Full text data of FAM188A
FAM188A
(C10orf97, CARP, DERP5)
[Confidence: low (only semi-automatic identification from reviews)]
Protein FAM188A (Dermal papilla-derived protein 5; Protein CARP)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Protein FAM188A (Dermal papilla-derived protein 5; Protein CARP)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
Q9H8M7
ID F188A_HUMAN Reviewed; 445 AA.
AC Q9H8M7; Q5SZ68; Q5SZ69; Q5SZ70; Q6IA40; Q6P7P0; Q7Z2S1; Q8WUF1;
read moreAC Q9H3I4;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 22-JAN-2014, entry version 104.
DE RecName: Full=Protein FAM188A;
DE AltName: Full=Dermal papilla-derived protein 5;
DE AltName: Full=Protein CARP;
GN Name=FAM188A; Synonyms=C10orf97, CARP, DERP5; ORFNames=MSTP126, My042;
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 [MRNA] (ISOFORM 1), POSSIBLE FUNCTION, SUBCELLULAR
RP LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=12054670; DOI=10.1016/S0006-291X(02)00379-0;
RA Liu B., Liu Y., Chen J., Wei Z., Yu H., Zhen Y., Lu L., Hui R.T.;
RT "CARP is a novel caspase recruitment domain containing pro-apoptotic
RT protein.";
RL Biochem. Biophys. Res. Commun. 293:1396-1404(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Ikeda A., Yamashita M., Yoshimoto M.;
RT "Molecular cloning of a dermal papilla derived gene.";
RL Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Aorta;
RA Liu B., Qin B.M., Sheng H., Zhao B., Liu Y.Q., Wang X.Y., Zhang Q.,
RA Song L., Liu B.H., Lu H., Xu H.S., Zheng W.Y., Gong J., Hui R.T.;
RT "Homo sapiens normal aorta mRNA MST126.";
RL Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D.,
RA Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L.,
RA Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S.,
RA Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L.,
RA Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J.,
RA Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M.,
RA Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S.,
RA Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M.,
RA Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A.,
RA Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T.,
RA Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I.,
RA Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T.,
RA Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W.,
RA Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H.,
RA Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L.,
RA Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K.,
RA Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T.,
RA Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [8]
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 [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, Testis, and Uterus;
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 [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 176-445.
RC TISSUE=Fetal brain;
RA Mao Y.M., Xie Y., Zheng Z.H.;
RL Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases.
RN [11]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-125, AND MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
CC -!- FUNCTION: May have pro-apoptotic function. Overexpression
CC significantly inhibits cell proliferation in several tumor cell
CC lines.
CC -!- INTERACTION:
CC Q92905:COPS5; NbExp=3; IntAct=EBI-724928, EBI-594661;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9H8M7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H8M7-2; Sequence=VSP_031039;
CC -!- TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle,
CC and kidney, with weak expression in liver and brain.
CC -!- SIMILARITY: Belongs to the FAM188 family.
CC -!- CAUTION: Was named CARP for 'CARD domain-containing protein' by
CC PubMed:12054670. However, no CARD domain is detected by any
CC prediction tool.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAG43159.1; Type=Erroneous initiation;
CC Sequence=AAH61585.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
CC Sequence=AAQ13660.1; Type=Frameshift; Positions=111;
CC Sequence=CAI13817.1; Type=Erroneous gene model prediction;
CC Sequence=CAI13818.1; Type=Erroneous gene model prediction;
CC Sequence=CAI13819.1; Type=Erroneous gene model prediction;
CC Sequence=EAW86233.1; Type=Erroneous gene model prediction;
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DR EMBL; AB014761; BAB87802.1; -; mRNA.
DR EMBL; AK023459; BAB14582.1; -; mRNA.
DR EMBL; AL833873; CAD38730.1; -; mRNA.
DR EMBL; CR457315; CAG33596.1; -; mRNA.
DR EMBL; AF176916; AAQ13660.1; ALT_FRAME; mRNA.
DR EMBL; AL590439; CAI13817.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AL590439; CAI13818.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AL590439; CAI13819.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AL590439; CAI13820.1; -; Genomic_DNA.
DR EMBL; CH471072; EAW86233.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH471072; EAW86234.1; -; Genomic_DNA.
DR EMBL; BC020605; AAH20605.1; -; mRNA.
DR EMBL; BC061585; AAH61585.1; ALT_SEQ; mRNA.
DR EMBL; BC067799; AAH67799.1; -; mRNA.
DR EMBL; AF063600; AAG43159.1; ALT_INIT; mRNA.
DR PIR; JC7861; JC7861.
DR RefSeq; NP_079224.1; NM_024948.2.
DR RefSeq; XP_005252656.1; XM_005252599.1.
DR RefSeq; XP_005252657.1; XM_005252600.1.
DR RefSeq; XP_005252658.1; XM_005252601.1.
DR RefSeq; XP_005252659.1; XM_005252602.1.
DR UniGene; Hs.158870; -.
DR ProteinModelPortal; Q9H8M7; -.
DR SMR; Q9H8M7; 305-368.
DR IntAct; Q9H8M7; 2.
DR MINT; MINT-1412937; -.
DR PhosphoSite; Q9H8M7; -.
DR DMDM; 74761533; -.
DR PaxDb; Q9H8M7; -.
DR PRIDE; Q9H8M7; -.
DR DNASU; 80013; -.
DR Ensembl; ENST00000277632; ENSP00000277632; ENSG00000148481.
DR GeneID; 80013; -.
DR KEGG; hsa:80013; -.
DR UCSC; uc001iod.1; human.
DR CTD; 80013; -.
DR GeneCards; GC10M015820; -.
DR HGNC; HGNC:23578; FAM188A.
DR HPA; HPA038400; -.
DR MIM; 611649; gene.
DR neXtProt; NX_Q9H8M7; -.
DR PharmGKB; PA165548562; -.
DR eggNOG; NOG262878; -.
DR HOVERGEN; HBG061682; -.
DR InParanoid; Q9H8M7; -.
DR OMA; PAQSSCQ; -.
DR OrthoDB; EOG7GXPB8; -.
DR PhylomeDB; Q9H8M7; -.
DR ChiTaRS; FAM188A; human.
DR GenomeRNAi; 80013; -.
DR NextBio; 70114; -.
DR PRO; PR:Q9H8M7; -.
DR Bgee; Q9H8M7; -.
DR Genevestigator; Q9H8M7; -.
DR GO; GO:0031965; C:nuclear membrane; IDA:HPA.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR GO; GO:0006915; P:apoptotic process; IEA:UniProtKB-KW.
DR Gene3D; 1.10.238.10; -; 1.
DR InterPro; IPR025257; DUF4205.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR Pfam; PF13898; DUF4205; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Apoptosis; Complete proteome; Nucleus;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1 445 Protein FAM188A.
FT /FTId=PRO_0000317560.
FT MOD_RES 125 125 Phosphoserine.
FT VAR_SEQ 137 445 Missing (in isoform 2).
FT /FTId=VSP_031039.
FT CONFLICT 31 31 Q -> R (in Ref. 5; CAG33596).
FT CONFLICT 96 96 S -> G (in Ref. 9; AAH20605).
FT CONFLICT 111 111 L -> V (in Ref. 6; AAQ13660).
FT CONFLICT 116 116 T -> A (in Ref. 5; CAG33596).
SQ SEQUENCE 445 AA; 49725 MW; F30B4A5E357AF52E CRC64;
MSELTKELME LVWGTKSSPG LSDTIFCRWT QGFVFSESEG SALEQFEGGP CAVIAPVQAF
LLKKLLFSSE KSSWRDCSEE EQKELLCHTL CDILESACCD HSGSYCLVSW LRGKTTEETA
SISGSPAESS CQVEHSSALA VEELGFERFH ALIQKRSFRS LPELKDAVLD QYSMWGNKFG
VLLFLYSVLL TKGIENIKNE IEDASEPLID PVYGHGSQSL INLLLTGHAV SNVWDGDREC
SGMKLLGIHE QAAVGFLTLM EALRYCKVGS YLKSPKFPIW IVGSETHLTV FFAKDMALVA
PEAPSEQARR VFQTYDPEDN GFIPDSLLED VMKALDLVSD PEYINLMKNK LDPEGLGIIL
LGPFLQEFFP DQGSSGPESF TVYHYNGLKQ SNYNEKVMYV EGTAVVMGFE DPMLQTDDTP
IKRCLQTKWP YIELLWTTDR SPSLN
//
ID F188A_HUMAN Reviewed; 445 AA.
AC Q9H8M7; Q5SZ68; Q5SZ69; Q5SZ70; Q6IA40; Q6P7P0; Q7Z2S1; Q8WUF1;
read moreAC Q9H3I4;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 22-JAN-2014, entry version 104.
DE RecName: Full=Protein FAM188A;
DE AltName: Full=Dermal papilla-derived protein 5;
DE AltName: Full=Protein CARP;
GN Name=FAM188A; Synonyms=C10orf97, CARP, DERP5; ORFNames=MSTP126, My042;
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 [MRNA] (ISOFORM 1), POSSIBLE FUNCTION, SUBCELLULAR
RP LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=12054670; DOI=10.1016/S0006-291X(02)00379-0;
RA Liu B., Liu Y., Chen J., Wei Z., Yu H., Zhen Y., Lu L., Hui R.T.;
RT "CARP is a novel caspase recruitment domain containing pro-apoptotic
RT protein.";
RL Biochem. Biophys. Res. Commun. 293:1396-1404(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Ikeda A., Yamashita M., Yoshimoto M.;
RT "Molecular cloning of a dermal papilla derived gene.";
RL Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Aorta;
RA Liu B., Qin B.M., Sheng H., Zhao B., Liu Y.Q., Wang X.Y., Zhang Q.,
RA Song L., Liu B.H., Lu H., Xu H.S., Zheng W.Y., Gong J., Hui R.T.;
RT "Homo sapiens normal aorta mRNA MST126.";
RL Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D.,
RA Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L.,
RA Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S.,
RA Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L.,
RA Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J.,
RA Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M.,
RA Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S.,
RA Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M.,
RA Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A.,
RA Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T.,
RA Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I.,
RA Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T.,
RA Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W.,
RA Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H.,
RA Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L.,
RA Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K.,
RA Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T.,
RA Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [8]
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 [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, Testis, and Uterus;
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 [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 176-445.
RC TISSUE=Fetal brain;
RA Mao Y.M., Xie Y., Zheng Z.H.;
RL Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases.
RN [11]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-125, AND MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
CC -!- FUNCTION: May have pro-apoptotic function. Overexpression
CC significantly inhibits cell proliferation in several tumor cell
CC lines.
CC -!- INTERACTION:
CC Q92905:COPS5; NbExp=3; IntAct=EBI-724928, EBI-594661;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9H8M7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H8M7-2; Sequence=VSP_031039;
CC -!- TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle,
CC and kidney, with weak expression in liver and brain.
CC -!- SIMILARITY: Belongs to the FAM188 family.
CC -!- CAUTION: Was named CARP for 'CARD domain-containing protein' by
CC PubMed:12054670. However, no CARD domain is detected by any
CC prediction tool.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAG43159.1; Type=Erroneous initiation;
CC Sequence=AAH61585.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
CC Sequence=AAQ13660.1; Type=Frameshift; Positions=111;
CC Sequence=CAI13817.1; Type=Erroneous gene model prediction;
CC Sequence=CAI13818.1; Type=Erroneous gene model prediction;
CC Sequence=CAI13819.1; Type=Erroneous gene model prediction;
CC Sequence=EAW86233.1; Type=Erroneous gene model prediction;
CC -----------------------------------------------------------------------
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DR EMBL; AB014761; BAB87802.1; -; mRNA.
DR EMBL; AK023459; BAB14582.1; -; mRNA.
DR EMBL; AL833873; CAD38730.1; -; mRNA.
DR EMBL; CR457315; CAG33596.1; -; mRNA.
DR EMBL; AF176916; AAQ13660.1; ALT_FRAME; mRNA.
DR EMBL; AL590439; CAI13817.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AL590439; CAI13818.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AL590439; CAI13819.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AL590439; CAI13820.1; -; Genomic_DNA.
DR EMBL; CH471072; EAW86233.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH471072; EAW86234.1; -; Genomic_DNA.
DR EMBL; BC020605; AAH20605.1; -; mRNA.
DR EMBL; BC061585; AAH61585.1; ALT_SEQ; mRNA.
DR EMBL; BC067799; AAH67799.1; -; mRNA.
DR EMBL; AF063600; AAG43159.1; ALT_INIT; mRNA.
DR PIR; JC7861; JC7861.
DR RefSeq; NP_079224.1; NM_024948.2.
DR RefSeq; XP_005252656.1; XM_005252599.1.
DR RefSeq; XP_005252657.1; XM_005252600.1.
DR RefSeq; XP_005252658.1; XM_005252601.1.
DR RefSeq; XP_005252659.1; XM_005252602.1.
DR UniGene; Hs.158870; -.
DR ProteinModelPortal; Q9H8M7; -.
DR SMR; Q9H8M7; 305-368.
DR IntAct; Q9H8M7; 2.
DR MINT; MINT-1412937; -.
DR PhosphoSite; Q9H8M7; -.
DR DMDM; 74761533; -.
DR PaxDb; Q9H8M7; -.
DR PRIDE; Q9H8M7; -.
DR DNASU; 80013; -.
DR Ensembl; ENST00000277632; ENSP00000277632; ENSG00000148481.
DR GeneID; 80013; -.
DR KEGG; hsa:80013; -.
DR UCSC; uc001iod.1; human.
DR CTD; 80013; -.
DR GeneCards; GC10M015820; -.
DR HGNC; HGNC:23578; FAM188A.
DR HPA; HPA038400; -.
DR MIM; 611649; gene.
DR neXtProt; NX_Q9H8M7; -.
DR PharmGKB; PA165548562; -.
DR eggNOG; NOG262878; -.
DR HOVERGEN; HBG061682; -.
DR InParanoid; Q9H8M7; -.
DR OMA; PAQSSCQ; -.
DR OrthoDB; EOG7GXPB8; -.
DR PhylomeDB; Q9H8M7; -.
DR ChiTaRS; FAM188A; human.
DR GenomeRNAi; 80013; -.
DR NextBio; 70114; -.
DR PRO; PR:Q9H8M7; -.
DR Bgee; Q9H8M7; -.
DR Genevestigator; Q9H8M7; -.
DR GO; GO:0031965; C:nuclear membrane; IDA:HPA.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR GO; GO:0006915; P:apoptotic process; IEA:UniProtKB-KW.
DR Gene3D; 1.10.238.10; -; 1.
DR InterPro; IPR025257; DUF4205.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR Pfam; PF13898; DUF4205; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Apoptosis; Complete proteome; Nucleus;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1 445 Protein FAM188A.
FT /FTId=PRO_0000317560.
FT MOD_RES 125 125 Phosphoserine.
FT VAR_SEQ 137 445 Missing (in isoform 2).
FT /FTId=VSP_031039.
FT CONFLICT 31 31 Q -> R (in Ref. 5; CAG33596).
FT CONFLICT 96 96 S -> G (in Ref. 9; AAH20605).
FT CONFLICT 111 111 L -> V (in Ref. 6; AAQ13660).
FT CONFLICT 116 116 T -> A (in Ref. 5; CAG33596).
SQ SEQUENCE 445 AA; 49725 MW; F30B4A5E357AF52E CRC64;
MSELTKELME LVWGTKSSPG LSDTIFCRWT QGFVFSESEG SALEQFEGGP CAVIAPVQAF
LLKKLLFSSE KSSWRDCSEE EQKELLCHTL CDILESACCD HSGSYCLVSW LRGKTTEETA
SISGSPAESS CQVEHSSALA VEELGFERFH ALIQKRSFRS LPELKDAVLD QYSMWGNKFG
VLLFLYSVLL TKGIENIKNE IEDASEPLID PVYGHGSQSL INLLLTGHAV SNVWDGDREC
SGMKLLGIHE QAAVGFLTLM EALRYCKVGS YLKSPKFPIW IVGSETHLTV FFAKDMALVA
PEAPSEQARR VFQTYDPEDN GFIPDSLLED VMKALDLVSD PEYINLMKNK LDPEGLGIIL
LGPFLQEFFP DQGSSGPESF TVYHYNGLKQ SNYNEKVMYV EGTAVVMGFE DPMLQTDDTP
IKRCLQTKWP YIELLWTTDR SPSLN
//
MIM
611649
*RECORD*
*FIELD* NO
611649
*FIELD* TI
*611649 CHROMOSOME 10 OPEN READING FRAME 97; C10ORF97
;;CARD-CONTAINING PROTEIN; CARP
read more*FIELD* TX
DESCRIPTION
C10ORF97 is a member of the caspase-associated recruitment domain (CARD)
family of proteins that play a role in apoptosis (Liu et al., 2002).
CLONING
By large-scale sequencing of a human aorta cDNA library, Liu et al.
(2002) cloned C10ORF97, which they called CARP. The deduced 445-amino
acid protein has a calculated molecular mass of 49.7 kD and contains a
nuclear receptor-binding motif, a caspase-associated recruitment domain,
2 EF-hand calcium-binding motifs, and an estimated 42% alpha-helix
content. C10ORF97 also contains 17 potential phosphorylation sites and 4
N-myristoylation sites. C10ORF97 shares 95.5% amino acid similarity with
its mouse ortholog and shares similarity over the CARD domain with many
apoptosis proteins including APAF1 (602233), RAIDD (CRADD; 603454), and
CASP1 (147678). Northern blot analysis of human tissues detected strong
expression in heart, skeletal muscle, and kidney, with weak expression
in liver and brain. Tumor cell lines analyzed showed ubiquitous
expression with highest levels in Helas S3 and lung carcinoma A549
cells. Immunostaining and subcellular fractionation studies localized
C10ORF97 to the nucleus when expressed in HEK293S cells.
GENE FUNCTION
Using fluorescence microscopy and DNA staining, Liu et al. (2002) showed
that overexpression of C10ORF97 induced apoptosis in HEK293 and lung
carcinoma A549 cells. Overexpression of C10ORF97 significantly inhibited
cell proliferation in several tumor cell lines. Antisense inhibition of
cells overexpressing C10ORF97 stimulated proliferation and abolished the
effect of C10ORF97 on apoptosis.
Shi et al. (2011) found downregulation of C10ORF97 in nonsmall cell lung
cancer (NSCLC; see 211980) tissue. Low C10ORF97 staining was found in
51.7% (217 of 420) of NSCLC samples and in 9% (19 of 210) of normal lung
samples. By contrast, only 5.2% (22 of 420) of the NSCLC samples and
40.5% (85 of 210) of the normal lung samples showed high C10ORF97
staining. Overexpression of C10ORF97 in lung cancer A549 cells
suppressed cell proliferation compared to controls, and silencing with
siRNA promoted A549 cell proliferation. Overexpression of C10ORF97 in
A549 cells reduced colony-forming ability, inhibited cell adhesion, and
caused decreased cellular motility in vitro. These findings were
replicated in mice in vivo who were injected with tumor cells: mice
treated with an adenoviral vector carrying the C10ORF97 gene showed a
significant suppression of tumor growth compared to untreated mice.
Analysis of cell cycle kinetics using flow cytometry showed that
C10ORF97 overexpression caused arrest of A549 cells in G1 phase, with a
decrease in the number of cells in S phase. C10ORF97 modulated the
expression of several cell cycle regulators, including an increase of
p27 (CDKN1B; 600778), and was shown to interact and interfere with JAB1
(COPS5; 604850) function. Through this interaction, C10ORF97 inhibited
JAB1-mediated activation of AP1 (see JUN oncogene, 165160) in a
dose-dependent manner, and blocked the JAB1-mediated translation of p27
from the nucleus to the cytoplasm. The findings were consistent with
C10ORF97 acting as a tumor suppressor gene with a role in regulation of
the cell cycle.
GENE STRUCTURE
Liu et al. (2002) determined that the C10ORF97 gene contains 15 exons.
MAPPING
By genomic sequence analysis, Liu et al. (2002) mapped the C10ORF97 gene
to chromosome 10p13.
MOLECULAR GENETICS
For discussion of a possible association between variation in the
C10ORF7 gene and nonsmall cell lung cancer, see 211980.
*FIELD* RF
1. Liu, B.; Liu, Y.; Chen, J.; Wei, Z.; Yu, H.; Zhen, Y.; Lu, L.;
Hui, R.: CARP is a novel caspase recruitment domain containing pro-apoptotic
protein. Biochem. Biophys. Res. Commun. 293: 1396-1404, 2002.
2. Shi, Y.; Chen, J.; Li, Z.; Zhang, Z.; Yu, H.; Sun, K.; Wang, X.;
Song, X.; Wang, Y.; Zhen, Y.; Yang, T.; Lou, K.; Zhang, Y.; Zhang,
G.; Hu, Y.; Ji, J.; Hui, R.: C10ORF97 is a novel tumor-suppressor
gene of non-small-cell lung cancer and a functional variant of this
gene increases the risk of non-small-cell lung cancer. Oncogene 30:
4107-4117, 2011.
*FIELD* CN
Cassandra L. Kniffin - updated: 6/19/2012
*FIELD* CD
Dorothy S. Reilly: 12/6/2007
*FIELD* ED
carol: 06/21/2012
ckniffin: 6/19/2012
wwang: 12/6/2007
*RECORD*
*FIELD* NO
611649
*FIELD* TI
*611649 CHROMOSOME 10 OPEN READING FRAME 97; C10ORF97
;;CARD-CONTAINING PROTEIN; CARP
read more*FIELD* TX
DESCRIPTION
C10ORF97 is a member of the caspase-associated recruitment domain (CARD)
family of proteins that play a role in apoptosis (Liu et al., 2002).
CLONING
By large-scale sequencing of a human aorta cDNA library, Liu et al.
(2002) cloned C10ORF97, which they called CARP. The deduced 445-amino
acid protein has a calculated molecular mass of 49.7 kD and contains a
nuclear receptor-binding motif, a caspase-associated recruitment domain,
2 EF-hand calcium-binding motifs, and an estimated 42% alpha-helix
content. C10ORF97 also contains 17 potential phosphorylation sites and 4
N-myristoylation sites. C10ORF97 shares 95.5% amino acid similarity with
its mouse ortholog and shares similarity over the CARD domain with many
apoptosis proteins including APAF1 (602233), RAIDD (CRADD; 603454), and
CASP1 (147678). Northern blot analysis of human tissues detected strong
expression in heart, skeletal muscle, and kidney, with weak expression
in liver and brain. Tumor cell lines analyzed showed ubiquitous
expression with highest levels in Helas S3 and lung carcinoma A549
cells. Immunostaining and subcellular fractionation studies localized
C10ORF97 to the nucleus when expressed in HEK293S cells.
GENE FUNCTION
Using fluorescence microscopy and DNA staining, Liu et al. (2002) showed
that overexpression of C10ORF97 induced apoptosis in HEK293 and lung
carcinoma A549 cells. Overexpression of C10ORF97 significantly inhibited
cell proliferation in several tumor cell lines. Antisense inhibition of
cells overexpressing C10ORF97 stimulated proliferation and abolished the
effect of C10ORF97 on apoptosis.
Shi et al. (2011) found downregulation of C10ORF97 in nonsmall cell lung
cancer (NSCLC; see 211980) tissue. Low C10ORF97 staining was found in
51.7% (217 of 420) of NSCLC samples and in 9% (19 of 210) of normal lung
samples. By contrast, only 5.2% (22 of 420) of the NSCLC samples and
40.5% (85 of 210) of the normal lung samples showed high C10ORF97
staining. Overexpression of C10ORF97 in lung cancer A549 cells
suppressed cell proliferation compared to controls, and silencing with
siRNA promoted A549 cell proliferation. Overexpression of C10ORF97 in
A549 cells reduced colony-forming ability, inhibited cell adhesion, and
caused decreased cellular motility in vitro. These findings were
replicated in mice in vivo who were injected with tumor cells: mice
treated with an adenoviral vector carrying the C10ORF97 gene showed a
significant suppression of tumor growth compared to untreated mice.
Analysis of cell cycle kinetics using flow cytometry showed that
C10ORF97 overexpression caused arrest of A549 cells in G1 phase, with a
decrease in the number of cells in S phase. C10ORF97 modulated the
expression of several cell cycle regulators, including an increase of
p27 (CDKN1B; 600778), and was shown to interact and interfere with JAB1
(COPS5; 604850) function. Through this interaction, C10ORF97 inhibited
JAB1-mediated activation of AP1 (see JUN oncogene, 165160) in a
dose-dependent manner, and blocked the JAB1-mediated translation of p27
from the nucleus to the cytoplasm. The findings were consistent with
C10ORF97 acting as a tumor suppressor gene with a role in regulation of
the cell cycle.
GENE STRUCTURE
Liu et al. (2002) determined that the C10ORF97 gene contains 15 exons.
MAPPING
By genomic sequence analysis, Liu et al. (2002) mapped the C10ORF97 gene
to chromosome 10p13.
MOLECULAR GENETICS
For discussion of a possible association between variation in the
C10ORF7 gene and nonsmall cell lung cancer, see 211980.
*FIELD* RF
1. Liu, B.; Liu, Y.; Chen, J.; Wei, Z.; Yu, H.; Zhen, Y.; Lu, L.;
Hui, R.: CARP is a novel caspase recruitment domain containing pro-apoptotic
protein. Biochem. Biophys. Res. Commun. 293: 1396-1404, 2002.
2. Shi, Y.; Chen, J.; Li, Z.; Zhang, Z.; Yu, H.; Sun, K.; Wang, X.;
Song, X.; Wang, Y.; Zhen, Y.; Yang, T.; Lou, K.; Zhang, Y.; Zhang,
G.; Hu, Y.; Ji, J.; Hui, R.: C10ORF97 is a novel tumor-suppressor
gene of non-small-cell lung cancer and a functional variant of this
gene increases the risk of non-small-cell lung cancer. Oncogene 30:
4107-4117, 2011.
*FIELD* CN
Cassandra L. Kniffin - updated: 6/19/2012
*FIELD* CD
Dorothy S. Reilly: 12/6/2007
*FIELD* ED
carol: 06/21/2012
ckniffin: 6/19/2012
wwang: 12/6/2007