Full text data of CRNN
CRNN
(C1orf10, DRC1, PDRC1, SEP53)
[Confidence: low (only semi-automatic identification from reviews)]
Cornulin (53 kDa putative calcium-binding protein; 53 kDa squamous epithelial-induced stress protein; 58 kDa heat shock protein; Squamous epithelial heat shock protein 53; Tumor-related protein)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Cornulin (53 kDa putative calcium-binding protein; 53 kDa squamous epithelial-induced stress protein; 58 kDa heat shock protein; Squamous epithelial heat shock protein 53; Tumor-related protein)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
Q9UBG3
ID CRNN_HUMAN Reviewed; 495 AA.
AC Q9UBG3; B2RE60; Q8N613;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-MAY-2000, sequence version 1.
DT 22-JAN-2014, entry version 94.
DE RecName: Full=Cornulin;
DE AltName: Full=53 kDa putative calcium-binding protein;
DE AltName: Full=53 kDa squamous epithelial-induced stress protein;
DE AltName: Full=58 kDa heat shock protein;
DE AltName: Full=Squamous epithelial heat shock protein 53;
DE AltName: Full=Tumor-related protein;
GN Name=CRNN; Synonyms=C1orf10, DRC1, PDRC1, SEP53;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Fetal esophagus;
RX PubMed=11056050; DOI=10.1006/geno.2000.6344;
RA Xu Z., Wang M.-R., Xu X., Cai Y., Han Y.-L., Wu K.-M., Wang J.,
RA Chen B.-S., Wang X.-Q., Wu M.;
RT "Novel human esophagus-specific gene c1orf10: cDNA cloning, gene
RT structure, and frequent loss of expression in esophageal cancer.";
RL Genomics 69:322-330(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Esophagus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
RA Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
RA Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
RA McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
RA Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
RA Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
RA Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
RA Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
RA Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
RA Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
RA Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
RA Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
RA Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
RA Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
RA Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
RA Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
RA Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
RA Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
RA Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
RA Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
RA Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
RA Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
RA Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
RA Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skeletal muscle;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP INDUCTION, TISSUE SPECIFICITY, AND IDENTIFICATION BY MASS
RP SPECTROMETRY.
RX PubMed=11606197; DOI=10.1046/j.0014-2956.2001.02468.x;
RA Yagui-Beltran A., Craig A.L., Lawrie L., Thompson D., Pospisilova S.,
RA Johnston D., Kernohan N., Hopwood D., Dillon J.F., Hupp T.R.;
RT "The human oesophageal squamous epithelium exhibits a novel type of
RT heat shock protein response.";
RL Eur. J. Biochem. 268:5343-5355(2001).
RN [7]
RP FUNCTION, SUBUNIT, INDUCTION, AND TISSUE SPECIFICITY.
RX PubMed=15896671; DOI=10.1016/j.biocel.2005.02.005;
RA Imai F.L., Uzawa K., Nimura Y., Moriya T., Imai M.A., Shiiba M.,
RA Bukawa H., Yokoe H., Tanzawa H.;
RT "Chromosome 1 open reading frame 10 (C1orf10) gene is frequently down-
RT regulated and inhibits cell proliferation in oral squamous cell
RT carcinoma.";
RL Int. J. Biochem. Cell Biol. 37:1641-1655(2005).
RN [8]
RP COFACTOR, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=15854041; DOI=10.1111/j.0022-202X.2005.23694.x;
RA Contzler R., Favre B., Huber M., Hohl D.;
RT "Cornulin, a new member of the 'fused gene' family, is expressed
RT during epidermal differentiation.";
RL J. Invest. Dermatol. 124:990-997(2005).
RN [9]
RP TISSUE SPECIFICITY.
RX PubMed=16466100;
RA Johnston N., Dettmar P.W., Lively M.O., Postma G.N., Belafsky P.C.,
RA Birchall M., Koufman J.A.;
RT "Effect of pepsin on laryngeal stress protein (Sep70, Sep53, and
RT Hsp70) response: role in laryngopharyngeal reflux disease.";
RL Ann. Otol. Rhinol. Laryngol. 115:47-58(2006).
RN [10]
RP FUNCTION, INDUCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=16640557; DOI=10.1111/j.1742-4658.2006.05206.x;
RA Darragh J., Hunter M., Pohler E., Nelson L., Dillon J.F., Nenutil R.,
RA Vojtesek B., Ross P.E., Kernohan N., Hupp T.R.;
RT "The calcium-binding domain of the stress protein SEP53 is required
RT for survival in response to deoxycholic acid-mediated injury.";
RL FEBS J. 273:1930-1947(2006).
RN [11]
RP TISSUE SPECIFICITY.
RX PubMed=17289885; DOI=10.1158/1078-0432.CCR-06-1577;
RA Luthra M.G., Ajani J.A., Izzo J., Ensor J., Wu T.T., Rashid A.,
RA Zhang L., Phan A., Fukami N., Luthra R.;
RT "Decreased expression of gene cluster at chromosome 1q21 defines
RT molecular subgroups of chemoradiotherapy response in esophageal
RT cancers.";
RL Clin. Cancer Res. 13:912-919(2007).
CC -!- FUNCTION: Survival factor that participates in the clonogenicity
CC of squamous esophageal epithelium cell lines, attenuates
CC deoxycholic acid (DCA)-induced apoptotic cell death and release of
CC calcium. When overexpressed in oral squamous carcinom cell lines,
CC regulates negatively cell proliferation by the induction of G1
CC arrest.
CC -!- COFACTOR: Binds calcium.
CC -!- SUBUNIT: Homodimer.
CC -!- SUBCELLULAR LOCATION: Cytoplasm. Note=Does not colocalize with
CC TGM1.
CC -!- TISSUE SPECIFICITY: Squamous epithelia cell-specific. Expressed in
CC the esophagus (periphery of the cells of the granular and the
CC upper spinous layers), foreskin (granular and lower cornified
CC cells), scalp skin (granular layer), inner root sheath of the hair
CC follicle and in primary keratinocytes (at protein level).
CC Expressed in the squamous epithelium of the cervix, esophagus,
CC foreskin and larynx. Expressed in the fetal bladder and scalp
CC skin. Expressed at very low levels in the lung, kidney, uterus,
CC skeletal muscle, heart and fetal brain. Undetectable or barely
CC detectable in esophageal and oral squamous cell carcinoma compared
CC with the matched adjacent normal esophageal mucosa. Undetectable
CC or barely detectable in larynx and esophagus from patients with
CC pH-documented laryngopharyngeal reflux (LPR).
CC -!- INDUCTION: Up-regulated after heat shock, ponasterone A and
CC deoxycholic acid.
CC -!- DOMAIN: The EF-hand is necessary for the colony survival activity
CC to protect cells from death induced by exposure to DCA.
CC -!- MISCELLANEOUS: Binds calcium with an affinity similar to that of
CC the S100 proteins.
CC -!- SIMILARITY: Belongs to the S100-fused protein family.
CC -!- SIMILARITY: Contains 1 EF-hand domain.
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DR EMBL; AF077831; AAD55747.1; -; mRNA.
DR EMBL; AF185276; AAF00514.1; -; Genomic_DNA.
DR EMBL; AK316568; BAG38157.1; -; mRNA.
DR EMBL; AL135842; CAI23349.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW53381.1; -; Genomic_DNA.
DR EMBL; BC030807; AAH30807.1; -; mRNA.
DR RefSeq; NP_057274.1; NM_016190.2.
DR UniGene; Hs.242057; -.
DR ProteinModelPortal; Q9UBG3; -.
DR SMR; Q9UBG3; 3-78.
DR IntAct; Q9UBG3; 1.
DR STRING; 9606.ENSP00000271835; -.
DR PhosphoSite; Q9UBG3; -.
DR DMDM; 74761891; -.
DR PaxDb; Q9UBG3; -.
DR PeptideAtlas; Q9UBG3; -.
DR PRIDE; Q9UBG3; -.
DR Ensembl; ENST00000271835; ENSP00000271835; ENSG00000143536.
DR GeneID; 49860; -.
DR KEGG; hsa:49860; -.
DR UCSC; uc001ezx.2; human.
DR CTD; 49860; -.
DR GeneCards; GC01M152381; -.
DR HGNC; HGNC:1230; CRNN.
DR HPA; CAB026182; -.
DR HPA; HPA024343; -.
DR MIM; 611312; gene.
DR neXtProt; NX_Q9UBG3; -.
DR PharmGKB; PA25601; -.
DR eggNOG; NOG44717; -.
DR HOGENOM; HOG000111974; -.
DR HOVERGEN; HBG072082; -.
DR InParanoid; Q9UBG3; -.
DR OMA; IVKPHDP; -.
DR OrthoDB; EOG7QC7VH; -.
DR PhylomeDB; Q9UBG3; -.
DR GenomeRNAi; 49860; -.
DR NextBio; 53028; -.
DR PRO; PR:Q9UBG3; -.
DR Bgee; Q9UBG3; -.
DR CleanEx; HS_CRNN; -.
DR Genevestigator; Q9UBG3; -.
DR GO; GO:0005737; C:cytoplasm; TAS:UniProtKB.
DR GO; GO:0016020; C:membrane; IDA:UniProtKB.
DR GO; GO:0005509; F:calcium ion binding; NAS:UniProtKB.
DR GO; GO:0016337; P:cell-cell adhesion; IDA:UniProtKB.
DR GO; GO:0009408; P:response to heat; IDA:UniProtKB.
DR Gene3D; 1.10.238.10; -; 1.
DR InterPro; IPR026792; Cornulin.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR018247; EF_Hand_1_Ca_BS.
DR InterPro; IPR002048; EF_hand_dom.
DR InterPro; IPR013787; S100_Ca-bd_sub.
DR PANTHER; PTHR11639:SF26; PTHR11639:SF26; 1.
DR Pfam; PF01023; S_100; 1.
DR PROSITE; PS00018; EF_HAND_1; 1.
DR PROSITE; PS50222; EF_HAND_2; 1.
PE 1: Evidence at protein level;
KW Calcium; Complete proteome; Cytoplasm; Metal-binding; Polymorphism;
KW Reference proteome.
FT CHAIN 1 495 Cornulin.
FT /FTId=PRO_0000305586.
FT DOMAIN 49 84 EF-hand.
FT CA_BIND 62 73 high affinity (By similarity).
FT COMPBIAS 139 389 Gln-rich.
FT VARIANT 27 27 A -> V (in dbSNP:rs35639220).
FT /FTId=VAR_048469.
FT VARIANT 374 374 Q -> H (in dbSNP:rs6695830).
FT /FTId=VAR_048470.
FT VARIANT 480 480 G -> S (in dbSNP:rs3829868).
FT /FTId=VAR_048471.
SQ SEQUENCE 495 AA; 53533 MW; C4882A11B4E64DC3 CRC64;
MPQLLQNING IIEAFRRYAR TEGNCTALTR GELKRLLEQE FADVIVKPHD PATVDEVLRL
LDEDHTGTVE FKEFLVLVFK VAQACFKTLS ESAEGACGSQ ESGSLHSGAS QELGEGQRSG
TEVGRAGKGQ HYEGSSHRQS QQGSRGQNRP GVQTQGQATG SAWVSSYDRQ AESQSQERIS
PQIQLSGQTE QTQKAGEGKR NQTTEMRPER QPQTREQDRA HQTGETVTGS GTQTQAGATQ
TVEQDSSHQT GRTSKQTQEA TNDQNRGTET HGQGRSQTSQ AVTGGHAQIQ AGTHTQTPTQ
TVEQDSSHQT GSTSTQTQES TNGQNRGTEI HGQGRSQTSQ AVTGGHTQIQ AGSHTETVEQ
DRSQTVSHGG AREQGQTQTQ PGSGQRWMQV SNPEAGETVP GGQAQTGAST ESGRQEWSST
HPRRCVTEGQ GDRQPTVVGE EWVDDHSRET VILRLDQGNL HTSVSSAQGQ DAAQSEEKRG
ITARELYSYL RSTKP
//
ID CRNN_HUMAN Reviewed; 495 AA.
AC Q9UBG3; B2RE60; Q8N613;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-MAY-2000, sequence version 1.
DT 22-JAN-2014, entry version 94.
DE RecName: Full=Cornulin;
DE AltName: Full=53 kDa putative calcium-binding protein;
DE AltName: Full=53 kDa squamous epithelial-induced stress protein;
DE AltName: Full=58 kDa heat shock protein;
DE AltName: Full=Squamous epithelial heat shock protein 53;
DE AltName: Full=Tumor-related protein;
GN Name=CRNN; Synonyms=C1orf10, DRC1, PDRC1, SEP53;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Fetal esophagus;
RX PubMed=11056050; DOI=10.1006/geno.2000.6344;
RA Xu Z., Wang M.-R., Xu X., Cai Y., Han Y.-L., Wu K.-M., Wang J.,
RA Chen B.-S., Wang X.-Q., Wu M.;
RT "Novel human esophagus-specific gene c1orf10: cDNA cloning, gene
RT structure, and frequent loss of expression in esophageal cancer.";
RL Genomics 69:322-330(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Esophagus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
RA Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
RA Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
RA McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
RA Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
RA Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
RA Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
RA Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
RA Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
RA Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
RA Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
RA Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
RA Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
RA Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
RA Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
RA Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
RA Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
RA Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
RA Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
RA Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
RA Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
RA Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
RA Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
RA Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skeletal muscle;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP INDUCTION, TISSUE SPECIFICITY, AND IDENTIFICATION BY MASS
RP SPECTROMETRY.
RX PubMed=11606197; DOI=10.1046/j.0014-2956.2001.02468.x;
RA Yagui-Beltran A., Craig A.L., Lawrie L., Thompson D., Pospisilova S.,
RA Johnston D., Kernohan N., Hopwood D., Dillon J.F., Hupp T.R.;
RT "The human oesophageal squamous epithelium exhibits a novel type of
RT heat shock protein response.";
RL Eur. J. Biochem. 268:5343-5355(2001).
RN [7]
RP FUNCTION, SUBUNIT, INDUCTION, AND TISSUE SPECIFICITY.
RX PubMed=15896671; DOI=10.1016/j.biocel.2005.02.005;
RA Imai F.L., Uzawa K., Nimura Y., Moriya T., Imai M.A., Shiiba M.,
RA Bukawa H., Yokoe H., Tanzawa H.;
RT "Chromosome 1 open reading frame 10 (C1orf10) gene is frequently down-
RT regulated and inhibits cell proliferation in oral squamous cell
RT carcinoma.";
RL Int. J. Biochem. Cell Biol. 37:1641-1655(2005).
RN [8]
RP COFACTOR, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=15854041; DOI=10.1111/j.0022-202X.2005.23694.x;
RA Contzler R., Favre B., Huber M., Hohl D.;
RT "Cornulin, a new member of the 'fused gene' family, is expressed
RT during epidermal differentiation.";
RL J. Invest. Dermatol. 124:990-997(2005).
RN [9]
RP TISSUE SPECIFICITY.
RX PubMed=16466100;
RA Johnston N., Dettmar P.W., Lively M.O., Postma G.N., Belafsky P.C.,
RA Birchall M., Koufman J.A.;
RT "Effect of pepsin on laryngeal stress protein (Sep70, Sep53, and
RT Hsp70) response: role in laryngopharyngeal reflux disease.";
RL Ann. Otol. Rhinol. Laryngol. 115:47-58(2006).
RN [10]
RP FUNCTION, INDUCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=16640557; DOI=10.1111/j.1742-4658.2006.05206.x;
RA Darragh J., Hunter M., Pohler E., Nelson L., Dillon J.F., Nenutil R.,
RA Vojtesek B., Ross P.E., Kernohan N., Hupp T.R.;
RT "The calcium-binding domain of the stress protein SEP53 is required
RT for survival in response to deoxycholic acid-mediated injury.";
RL FEBS J. 273:1930-1947(2006).
RN [11]
RP TISSUE SPECIFICITY.
RX PubMed=17289885; DOI=10.1158/1078-0432.CCR-06-1577;
RA Luthra M.G., Ajani J.A., Izzo J., Ensor J., Wu T.T., Rashid A.,
RA Zhang L., Phan A., Fukami N., Luthra R.;
RT "Decreased expression of gene cluster at chromosome 1q21 defines
RT molecular subgroups of chemoradiotherapy response in esophageal
RT cancers.";
RL Clin. Cancer Res. 13:912-919(2007).
CC -!- FUNCTION: Survival factor that participates in the clonogenicity
CC of squamous esophageal epithelium cell lines, attenuates
CC deoxycholic acid (DCA)-induced apoptotic cell death and release of
CC calcium. When overexpressed in oral squamous carcinom cell lines,
CC regulates negatively cell proliferation by the induction of G1
CC arrest.
CC -!- COFACTOR: Binds calcium.
CC -!- SUBUNIT: Homodimer.
CC -!- SUBCELLULAR LOCATION: Cytoplasm. Note=Does not colocalize with
CC TGM1.
CC -!- TISSUE SPECIFICITY: Squamous epithelia cell-specific. Expressed in
CC the esophagus (periphery of the cells of the granular and the
CC upper spinous layers), foreskin (granular and lower cornified
CC cells), scalp skin (granular layer), inner root sheath of the hair
CC follicle and in primary keratinocytes (at protein level).
CC Expressed in the squamous epithelium of the cervix, esophagus,
CC foreskin and larynx. Expressed in the fetal bladder and scalp
CC skin. Expressed at very low levels in the lung, kidney, uterus,
CC skeletal muscle, heart and fetal brain. Undetectable or barely
CC detectable in esophageal and oral squamous cell carcinoma compared
CC with the matched adjacent normal esophageal mucosa. Undetectable
CC or barely detectable in larynx and esophagus from patients with
CC pH-documented laryngopharyngeal reflux (LPR).
CC -!- INDUCTION: Up-regulated after heat shock, ponasterone A and
CC deoxycholic acid.
CC -!- DOMAIN: The EF-hand is necessary for the colony survival activity
CC to protect cells from death induced by exposure to DCA.
CC -!- MISCELLANEOUS: Binds calcium with an affinity similar to that of
CC the S100 proteins.
CC -!- SIMILARITY: Belongs to the S100-fused protein family.
CC -!- SIMILARITY: Contains 1 EF-hand domain.
CC -----------------------------------------------------------------------
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DR EMBL; AF077831; AAD55747.1; -; mRNA.
DR EMBL; AF185276; AAF00514.1; -; Genomic_DNA.
DR EMBL; AK316568; BAG38157.1; -; mRNA.
DR EMBL; AL135842; CAI23349.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW53381.1; -; Genomic_DNA.
DR EMBL; BC030807; AAH30807.1; -; mRNA.
DR RefSeq; NP_057274.1; NM_016190.2.
DR UniGene; Hs.242057; -.
DR ProteinModelPortal; Q9UBG3; -.
DR SMR; Q9UBG3; 3-78.
DR IntAct; Q9UBG3; 1.
DR STRING; 9606.ENSP00000271835; -.
DR PhosphoSite; Q9UBG3; -.
DR DMDM; 74761891; -.
DR PaxDb; Q9UBG3; -.
DR PeptideAtlas; Q9UBG3; -.
DR PRIDE; Q9UBG3; -.
DR Ensembl; ENST00000271835; ENSP00000271835; ENSG00000143536.
DR GeneID; 49860; -.
DR KEGG; hsa:49860; -.
DR UCSC; uc001ezx.2; human.
DR CTD; 49860; -.
DR GeneCards; GC01M152381; -.
DR HGNC; HGNC:1230; CRNN.
DR HPA; CAB026182; -.
DR HPA; HPA024343; -.
DR MIM; 611312; gene.
DR neXtProt; NX_Q9UBG3; -.
DR PharmGKB; PA25601; -.
DR eggNOG; NOG44717; -.
DR HOGENOM; HOG000111974; -.
DR HOVERGEN; HBG072082; -.
DR InParanoid; Q9UBG3; -.
DR OMA; IVKPHDP; -.
DR OrthoDB; EOG7QC7VH; -.
DR PhylomeDB; Q9UBG3; -.
DR GenomeRNAi; 49860; -.
DR NextBio; 53028; -.
DR PRO; PR:Q9UBG3; -.
DR Bgee; Q9UBG3; -.
DR CleanEx; HS_CRNN; -.
DR Genevestigator; Q9UBG3; -.
DR GO; GO:0005737; C:cytoplasm; TAS:UniProtKB.
DR GO; GO:0016020; C:membrane; IDA:UniProtKB.
DR GO; GO:0005509; F:calcium ion binding; NAS:UniProtKB.
DR GO; GO:0016337; P:cell-cell adhesion; IDA:UniProtKB.
DR GO; GO:0009408; P:response to heat; IDA:UniProtKB.
DR Gene3D; 1.10.238.10; -; 1.
DR InterPro; IPR026792; Cornulin.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR018247; EF_Hand_1_Ca_BS.
DR InterPro; IPR002048; EF_hand_dom.
DR InterPro; IPR013787; S100_Ca-bd_sub.
DR PANTHER; PTHR11639:SF26; PTHR11639:SF26; 1.
DR Pfam; PF01023; S_100; 1.
DR PROSITE; PS00018; EF_HAND_1; 1.
DR PROSITE; PS50222; EF_HAND_2; 1.
PE 1: Evidence at protein level;
KW Calcium; Complete proteome; Cytoplasm; Metal-binding; Polymorphism;
KW Reference proteome.
FT CHAIN 1 495 Cornulin.
FT /FTId=PRO_0000305586.
FT DOMAIN 49 84 EF-hand.
FT CA_BIND 62 73 high affinity (By similarity).
FT COMPBIAS 139 389 Gln-rich.
FT VARIANT 27 27 A -> V (in dbSNP:rs35639220).
FT /FTId=VAR_048469.
FT VARIANT 374 374 Q -> H (in dbSNP:rs6695830).
FT /FTId=VAR_048470.
FT VARIANT 480 480 G -> S (in dbSNP:rs3829868).
FT /FTId=VAR_048471.
SQ SEQUENCE 495 AA; 53533 MW; C4882A11B4E64DC3 CRC64;
MPQLLQNING IIEAFRRYAR TEGNCTALTR GELKRLLEQE FADVIVKPHD PATVDEVLRL
LDEDHTGTVE FKEFLVLVFK VAQACFKTLS ESAEGACGSQ ESGSLHSGAS QELGEGQRSG
TEVGRAGKGQ HYEGSSHRQS QQGSRGQNRP GVQTQGQATG SAWVSSYDRQ AESQSQERIS
PQIQLSGQTE QTQKAGEGKR NQTTEMRPER QPQTREQDRA HQTGETVTGS GTQTQAGATQ
TVEQDSSHQT GRTSKQTQEA TNDQNRGTET HGQGRSQTSQ AVTGGHAQIQ AGTHTQTPTQ
TVEQDSSHQT GSTSTQTQES TNGQNRGTEI HGQGRSQTSQ AVTGGHTQIQ AGSHTETVEQ
DRSQTVSHGG AREQGQTQTQ PGSGQRWMQV SNPEAGETVP GGQAQTGAST ESGRQEWSST
HPRRCVTEGQ GDRQPTVVGE EWVDDHSRET VILRLDQGNL HTSVSSAQGQ DAAQSEEKRG
ITARELYSYL RSTKP
//
MIM
611312
*RECORD*
*FIELD* NO
611312
*FIELD* TI
*611312 CORNULIN; CRNN
;;CHROMOSOME 1 OPEN READING FRAME 10; C1ORF10;;
PDRC1
*FIELD* TX
read more
CLONING
Using differential display PCR to compare genes expressed in esophageal
cancer tissues to those expressed in adjacent normal esophageal mucosa,
Xu et al. (2000) identified a differentially expressed transcript, which
they named C1ORF10. The C1ORF10 cDNA encodes a deduced 490-amino acid
protein with 1 transmembrane domain, an N-terminal EF-hand
calcium-binding motif of about 90 amino acids that shares 25 to 35%
identity to human S100 calcium-binding proteins (e.g., 114085), and a
conserved consecutive repeat sequence of about 60 amino acids. Northern
blot analysis of 16 human adult tissues revealed restricted expression
of an approximately 2.0-kb C1ORF10 transcript in esophagus. Expression
in esophageal cancer tissue was greatly reduced or absent compared to
the expression in matched adjacent normal esophageal mucosa.
Contzler et al. (2005) further characterized the C10ORF10 protein, which
they called cornulin. They found that the protein contains 2 EF-hand
domains in the N terminus and shares sequence and structural identity
with members of the 'fused protein' family (e.g., repetin) as well as
with members of the S100 protein family. RT-PCR analysis detected
expression of cornulin in fetal bladder, scalp skin, foreskin, and in
cultured primary keratinocytes.
GENE FUNCTION
Using a Ca2+ overlay assay, Contzler et al. (2005) demonstrated that the
EF-hand domains of cornulin bind calcium. Confocal microscopy of HeLa
cells transfected with EGFP-labeled cornulin showed that cornulin was
distributed throughout the cytoplasm with denser staining occurring
around the nucleus; deletion of the EF-hand domains resulted in a
granular pattern of staining throughout the whole cell.
Immunofluorescence studies showed cornulin staining in the granular and
lower cornified cells of foreskin and also in the granular layer and
inner root sheath of the hair follicle in scalp skin; prominent staining
was observed on esophagus sections at the periphery of the cells of the
granular and the upper spinous layers. Because expression of cornulin
was especially high in Ca(2+)-differentiating cells, Contzler et al.
(2005) suggested that cornulin is a marker of late epidermal
differentiation.
GENE STRUCTURE
Xu et al. (2000) determined that the C1ORF10 gene contains 3 exons, the
first of which is noncoding, and spans 5 kb.
Contzler et al. (2005) found that the gene structure of C1ORF10 is
similar to that of members of the 'fused gene' family. C1ORF10 has a
short first noncoding exon, a long intron 1, a second exon containing
the initiation codon and the first EF-hand motif, and a third exon
containing the second EF-hand motif.
MAPPING
Using a radiation hybrid panel, Xu et al. (2000) mapped the
C1ORf10/cornulin gene to human chromosome 1q21. By sequence analysis,
Contzler et al. (2005) mapped the gene within the epidermal
differentiation complex on 1q21, very close to other members of the
'fused gene' family.
*FIELD* RF
1. Contzler, R.; Favre, B.; Huber, M.; Hohl, D.: Cornulin, a new
member of the 'fused Gene' family, is expressed during epidermal differentiation. J.
Invest. Derm. 124: 990-997, 2005.
2. Xu, Z.; Wang, M.-R.; Xu, X.; Cai, Y.; Han, Y.-L.; Wu, K.-M.; Wang,
J.; Chen, B.-S.; Wang, X.-Q.; Wu, M.: Novel human esophagus-specific
gene C1orf10: cDNA cloning, gene structure, and frequent loss of expression
in esophageal cancer. Genomics 69: 322-330, 2000.
*FIELD* CD
Stefanie A. Nelson: 8/9/2007
*FIELD* ED
carol: 08/09/2007
*RECORD*
*FIELD* NO
611312
*FIELD* TI
*611312 CORNULIN; CRNN
;;CHROMOSOME 1 OPEN READING FRAME 10; C1ORF10;;
PDRC1
*FIELD* TX
read more
CLONING
Using differential display PCR to compare genes expressed in esophageal
cancer tissues to those expressed in adjacent normal esophageal mucosa,
Xu et al. (2000) identified a differentially expressed transcript, which
they named C1ORF10. The C1ORF10 cDNA encodes a deduced 490-amino acid
protein with 1 transmembrane domain, an N-terminal EF-hand
calcium-binding motif of about 90 amino acids that shares 25 to 35%
identity to human S100 calcium-binding proteins (e.g., 114085), and a
conserved consecutive repeat sequence of about 60 amino acids. Northern
blot analysis of 16 human adult tissues revealed restricted expression
of an approximately 2.0-kb C1ORF10 transcript in esophagus. Expression
in esophageal cancer tissue was greatly reduced or absent compared to
the expression in matched adjacent normal esophageal mucosa.
Contzler et al. (2005) further characterized the C10ORF10 protein, which
they called cornulin. They found that the protein contains 2 EF-hand
domains in the N terminus and shares sequence and structural identity
with members of the 'fused protein' family (e.g., repetin) as well as
with members of the S100 protein family. RT-PCR analysis detected
expression of cornulin in fetal bladder, scalp skin, foreskin, and in
cultured primary keratinocytes.
GENE FUNCTION
Using a Ca2+ overlay assay, Contzler et al. (2005) demonstrated that the
EF-hand domains of cornulin bind calcium. Confocal microscopy of HeLa
cells transfected with EGFP-labeled cornulin showed that cornulin was
distributed throughout the cytoplasm with denser staining occurring
around the nucleus; deletion of the EF-hand domains resulted in a
granular pattern of staining throughout the whole cell.
Immunofluorescence studies showed cornulin staining in the granular and
lower cornified cells of foreskin and also in the granular layer and
inner root sheath of the hair follicle in scalp skin; prominent staining
was observed on esophagus sections at the periphery of the cells of the
granular and the upper spinous layers. Because expression of cornulin
was especially high in Ca(2+)-differentiating cells, Contzler et al.
(2005) suggested that cornulin is a marker of late epidermal
differentiation.
GENE STRUCTURE
Xu et al. (2000) determined that the C1ORF10 gene contains 3 exons, the
first of which is noncoding, and spans 5 kb.
Contzler et al. (2005) found that the gene structure of C1ORF10 is
similar to that of members of the 'fused gene' family. C1ORF10 has a
short first noncoding exon, a long intron 1, a second exon containing
the initiation codon and the first EF-hand motif, and a third exon
containing the second EF-hand motif.
MAPPING
Using a radiation hybrid panel, Xu et al. (2000) mapped the
C1ORf10/cornulin gene to human chromosome 1q21. By sequence analysis,
Contzler et al. (2005) mapped the gene within the epidermal
differentiation complex on 1q21, very close to other members of the
'fused gene' family.
*FIELD* RF
1. Contzler, R.; Favre, B.; Huber, M.; Hohl, D.: Cornulin, a new
member of the 'fused Gene' family, is expressed during epidermal differentiation. J.
Invest. Derm. 124: 990-997, 2005.
2. Xu, Z.; Wang, M.-R.; Xu, X.; Cai, Y.; Han, Y.-L.; Wu, K.-M.; Wang,
J.; Chen, B.-S.; Wang, X.-Q.; Wu, M.: Novel human esophagus-specific
gene C1orf10: cDNA cloning, gene structure, and frequent loss of expression
in esophageal cancer. Genomics 69: 322-330, 2000.
*FIELD* CD
Stefanie A. Nelson: 8/9/2007
*FIELD* ED
carol: 08/09/2007