Full text data of FAM50A
FAM50A
(DXS9928E, HXC26, XAP5)
[Confidence: low (only semi-automatic identification from reviews)]
Protein FAM50A (Protein HXC-26; Protein XAP-5)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Protein FAM50A (Protein HXC-26; Protein XAP-5)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
Q14320
ID FA50A_HUMAN Reviewed; 339 AA.
AC Q14320; A8KAQ4; B2R997; Q5HY37;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
read moreDT 11-JAN-2001, sequence version 2.
DT 22-JAN-2014, entry version 108.
DE RecName: Full=Protein FAM50A;
DE AltName: Full=Protein HXC-26;
DE AltName: Full=Protein XAP-5;
GN Name=FAM50A; Synonyms=DXS9928E, HXC26, XAP5;
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], FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=9339379; DOI=10.1006/geno.1997.4912;
RA Mazzarella R., Pengue G., Yoon J., Jones J., Schlessinger D.;
RT "Differential expression of XAP5, a candidate disease gene.";
RL Genomics 45:216-219(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A.,
RA Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G.,
RA Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S.,
RA Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R.,
RA Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L.,
RA Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A.,
RA Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S.,
RA Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R.,
RA Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M.,
RA Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N.,
RA Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D.,
RA Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W.,
RA Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C.,
RA Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C.,
RA Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J.,
RA Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S.,
RA Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I.,
RA Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L.,
RA Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P.,
RA Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S.,
RA Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A.,
RA Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J.,
RA Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J.,
RA Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S.,
RA de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z.,
RA Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C.,
RA Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W.,
RA Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T.,
RA Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I.,
RA Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N.,
RA Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J.,
RA Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E.,
RA Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S.,
RA Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T.,
RA Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S.,
RA Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L.,
RA Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A.,
RA Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L.,
RA Williams G., Williams L., Williamson A., Williamson H., Wilming L.,
RA Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H.,
RA Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A.,
RA Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A.,
RA Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T.,
RA Gibbs R.A., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
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=Placenta;
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 NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 15-339.
RC TISSUE=Skeletal muscle;
RX PubMed=9039504; DOI=10.1093/dnares/3.5.337;
RA Toyoda A., Sakai T., Sugiyama Y., Kusuda J., Hashimoto K., Maeda H.;
RT "Isolation and analysis of a novel gene, HXC-26, adjacent to the rab
RT GDP dissociation inhibitor gene located at human chromosome Xq28
RT region.";
RL DNA Res. 3:337-340(1996).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 66-339.
RX PubMed=8733135; DOI=10.1093/hmg/5.5.659;
RA Chen E.Y., Zollo M., Mazzarella R.A., Ciccodicola A., Chen C.-N.,
RA Zuo L., Heiner C., Burough F.W., Ripetto M., Schlessinger D.,
RA D'Urso M.;
RT "Long-range sequence analysis in Xq28: thirteen known and six
RT candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and
RT G6PD loci.";
RL Hum. Mol. Genet. 5:659-668(1996).
RN [8]
RP PROTEIN SEQUENCE OF 159-170, AND MASS SPECTROMETRY.
RC TISSUE=Fetal brain cortex;
RA Lubec G., Chen W.-Q., Sun Y.;
RL Submitted (DEC-2008) to UniProtKB.
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [10]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, MASS SPECTROMETRY, AND
RP CLEAVAGE OF INITIATOR METHIONINE.
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
CC -!- FUNCTION: May be a DNA-binding protein or transcriptional factor.
CC -!- SUBCELLULAR LOCATION: Nucleus (Potential).
CC -!- TISSUE SPECIFICITY: Expressed in all tissues examined. Mostly
CC abundant in fetal brain, liver and kidney; in the adult, high
CC levels were also observed in heart, skeletal muscle, spleen,
CC thymus, prostate and small intestine.
CC -!- SIMILARITY: Belongs to the FAM50 family.
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DR EMBL; AD001530; AAB81663.1; -; mRNA.
DR EMBL; AK293119; BAF85808.1; -; mRNA.
DR EMBL; AK313697; BAG36444.1; -; mRNA.
DR EMBL; BX936365; CAI43193.1; -; Genomic_DNA.
DR EMBL; CH471172; EAW72708.1; -; Genomic_DNA.
DR EMBL; BC000028; AAH00028.1; -; mRNA.
DR EMBL; D83389; BAA11907.1; -; Genomic_DNA.
DR EMBL; D83260; BAA11871.1; -; mRNA.
DR EMBL; L44140; AAA92649.1; -; Genomic_DNA.
DR PIR; JC5276; JC5276.
DR RefSeq; NP_004690.1; NM_004699.3.
DR UniGene; Hs.54277; -.
DR ProteinModelPortal; Q14320; -.
DR IntAct; Q14320; 1.
DR MINT; MINT-3029323; -.
DR STRING; 9606.ENSP00000377225; -.
DR PhosphoSite; Q14320; -.
DR DMDM; 12231058; -.
DR PaxDb; Q14320; -.
DR PeptideAtlas; Q14320; -.
DR PRIDE; Q14320; -.
DR DNASU; 9130; -.
DR Ensembl; ENST00000393600; ENSP00000377225; ENSG00000071859.
DR Ensembl; ENST00000596978; ENSP00000470975; ENSG00000269645.
DR GeneID; 9130; -.
DR KEGG; hsa:9130; -.
DR UCSC; uc004fll.4; human.
DR CTD; 9130; -.
DR GeneCards; GC0XP153672; -.
DR HGNC; HGNC:18786; FAM50A.
DR HPA; HPA003585; -.
DR MIM; 300453; gene.
DR neXtProt; NX_Q14320; -.
DR PharmGKB; PA134984709; -.
DR eggNOG; NOG252249; -.
DR HOGENOM; HOG000283611; -.
DR HOVERGEN; HBG000678; -.
DR InParanoid; Q14320; -.
DR KO; K13119; -.
DR OMA; KGNTIQQ; -.
DR PhylomeDB; Q14320; -.
DR ChiTaRS; FAM50A; human.
DR GeneWiki; FAM50A; -.
DR GenomeRNAi; 9130; -.
DR NextBio; 34225; -.
DR PRO; PR:Q14320; -.
DR ArrayExpress; Q14320; -.
DR Bgee; Q14320; -.
DR CleanEx; HS_FAM50A; -.
DR Genevestigator; Q14320; -.
DR GO; GO:0005634; C:nucleus; NAS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; NAS:UniProtKB.
DR InterPro; IPR007005; XAP5.
DR PANTHER; PTHR12722; PTHR12722; 1.
DR Pfam; PF04921; XAP5; 1.
PE 1: Evidence at protein level;
KW Acetylation; Complete proteome; Direct protein sequencing; Nucleus;
KW Reference proteome.
FT INIT_MET 1 1 Removed.
FT CHAIN 2 339 Protein FAM50A.
FT /FTId=PRO_0000068284.
FT MOTIF 152 155 Nuclear localization signal (Potential).
FT MOD_RES 2 2 N-acetylalanine.
FT CONFLICT 166 166 F -> S (in Ref. 2; BAF85808).
FT CONFLICT 330 330 E -> G (in Ref. 2; BAF85808).
SQ SEQUENCE 339 AA; 40242 MW; 88BCA57E49B0AA32 CRC64;
MAQYKGAASE AGRAMHLMKK REKQREQMEQ MKQRIAEENI MKSNIDKKFS AHYDAVEAEL
KSSTVGLVTL NDMKAKQEAL VKEREKQLAK KEQSKELQMK LEKLREKERK KEAKRKISSL
SFTLEEEEEG GEEEEEAAMY EEEMEREEIT TKKRKLGKNP DVDTSFLPDR DREEEENRLR
EELRQEWEAK QEKIKSEEIE ITFSYWDGSG HRRTVKMRKG NTMQQFLQKA LEILRKDFSE
LRSAGVEQLM YIKEDLIIPH HHSFYDFIVT KARGKSGPLF NFDVHDDVRL LSDATVEKDE
SHAGKVVLRS WYEKNKHIFP ASRWEPYDPE KKWDKYTIR
//
ID FA50A_HUMAN Reviewed; 339 AA.
AC Q14320; A8KAQ4; B2R997; Q5HY37;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
read moreDT 11-JAN-2001, sequence version 2.
DT 22-JAN-2014, entry version 108.
DE RecName: Full=Protein FAM50A;
DE AltName: Full=Protein HXC-26;
DE AltName: Full=Protein XAP-5;
GN Name=FAM50A; Synonyms=DXS9928E, HXC26, XAP5;
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], FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=9339379; DOI=10.1006/geno.1997.4912;
RA Mazzarella R., Pengue G., Yoon J., Jones J., Schlessinger D.;
RT "Differential expression of XAP5, a candidate disease gene.";
RL Genomics 45:216-219(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A.,
RA Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G.,
RA Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S.,
RA Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R.,
RA Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L.,
RA Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A.,
RA Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S.,
RA Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R.,
RA Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M.,
RA Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N.,
RA Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D.,
RA Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W.,
RA Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C.,
RA Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C.,
RA Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J.,
RA Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S.,
RA Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I.,
RA Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L.,
RA Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P.,
RA Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S.,
RA Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A.,
RA Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J.,
RA Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J.,
RA Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S.,
RA de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z.,
RA Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C.,
RA Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W.,
RA Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T.,
RA Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I.,
RA Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N.,
RA Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J.,
RA Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E.,
RA Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S.,
RA Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T.,
RA Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S.,
RA Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L.,
RA Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A.,
RA Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L.,
RA Williams G., Williams L., Williamson A., Williamson H., Wilming L.,
RA Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H.,
RA Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A.,
RA Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A.,
RA Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T.,
RA Gibbs R.A., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
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=Placenta;
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 NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 15-339.
RC TISSUE=Skeletal muscle;
RX PubMed=9039504; DOI=10.1093/dnares/3.5.337;
RA Toyoda A., Sakai T., Sugiyama Y., Kusuda J., Hashimoto K., Maeda H.;
RT "Isolation and analysis of a novel gene, HXC-26, adjacent to the rab
RT GDP dissociation inhibitor gene located at human chromosome Xq28
RT region.";
RL DNA Res. 3:337-340(1996).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 66-339.
RX PubMed=8733135; DOI=10.1093/hmg/5.5.659;
RA Chen E.Y., Zollo M., Mazzarella R.A., Ciccodicola A., Chen C.-N.,
RA Zuo L., Heiner C., Burough F.W., Ripetto M., Schlessinger D.,
RA D'Urso M.;
RT "Long-range sequence analysis in Xq28: thirteen known and six
RT candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and
RT G6PD loci.";
RL Hum. Mol. Genet. 5:659-668(1996).
RN [8]
RP PROTEIN SEQUENCE OF 159-170, AND MASS SPECTROMETRY.
RC TISSUE=Fetal brain cortex;
RA Lubec G., Chen W.-Q., Sun Y.;
RL Submitted (DEC-2008) to UniProtKB.
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [10]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, MASS SPECTROMETRY, AND
RP CLEAVAGE OF INITIATOR METHIONINE.
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
CC -!- FUNCTION: May be a DNA-binding protein or transcriptional factor.
CC -!- SUBCELLULAR LOCATION: Nucleus (Potential).
CC -!- TISSUE SPECIFICITY: Expressed in all tissues examined. Mostly
CC abundant in fetal brain, liver and kidney; in the adult, high
CC levels were also observed in heart, skeletal muscle, spleen,
CC thymus, prostate and small intestine.
CC -!- SIMILARITY: Belongs to the FAM50 family.
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DR EMBL; AD001530; AAB81663.1; -; mRNA.
DR EMBL; AK293119; BAF85808.1; -; mRNA.
DR EMBL; AK313697; BAG36444.1; -; mRNA.
DR EMBL; BX936365; CAI43193.1; -; Genomic_DNA.
DR EMBL; CH471172; EAW72708.1; -; Genomic_DNA.
DR EMBL; BC000028; AAH00028.1; -; mRNA.
DR EMBL; D83389; BAA11907.1; -; Genomic_DNA.
DR EMBL; D83260; BAA11871.1; -; mRNA.
DR EMBL; L44140; AAA92649.1; -; Genomic_DNA.
DR PIR; JC5276; JC5276.
DR RefSeq; NP_004690.1; NM_004699.3.
DR UniGene; Hs.54277; -.
DR ProteinModelPortal; Q14320; -.
DR IntAct; Q14320; 1.
DR MINT; MINT-3029323; -.
DR STRING; 9606.ENSP00000377225; -.
DR PhosphoSite; Q14320; -.
DR DMDM; 12231058; -.
DR PaxDb; Q14320; -.
DR PeptideAtlas; Q14320; -.
DR PRIDE; Q14320; -.
DR DNASU; 9130; -.
DR Ensembl; ENST00000393600; ENSP00000377225; ENSG00000071859.
DR Ensembl; ENST00000596978; ENSP00000470975; ENSG00000269645.
DR GeneID; 9130; -.
DR KEGG; hsa:9130; -.
DR UCSC; uc004fll.4; human.
DR CTD; 9130; -.
DR GeneCards; GC0XP153672; -.
DR HGNC; HGNC:18786; FAM50A.
DR HPA; HPA003585; -.
DR MIM; 300453; gene.
DR neXtProt; NX_Q14320; -.
DR PharmGKB; PA134984709; -.
DR eggNOG; NOG252249; -.
DR HOGENOM; HOG000283611; -.
DR HOVERGEN; HBG000678; -.
DR InParanoid; Q14320; -.
DR KO; K13119; -.
DR OMA; KGNTIQQ; -.
DR PhylomeDB; Q14320; -.
DR ChiTaRS; FAM50A; human.
DR GeneWiki; FAM50A; -.
DR GenomeRNAi; 9130; -.
DR NextBio; 34225; -.
DR PRO; PR:Q14320; -.
DR ArrayExpress; Q14320; -.
DR Bgee; Q14320; -.
DR CleanEx; HS_FAM50A; -.
DR Genevestigator; Q14320; -.
DR GO; GO:0005634; C:nucleus; NAS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; NAS:UniProtKB.
DR InterPro; IPR007005; XAP5.
DR PANTHER; PTHR12722; PTHR12722; 1.
DR Pfam; PF04921; XAP5; 1.
PE 1: Evidence at protein level;
KW Acetylation; Complete proteome; Direct protein sequencing; Nucleus;
KW Reference proteome.
FT INIT_MET 1 1 Removed.
FT CHAIN 2 339 Protein FAM50A.
FT /FTId=PRO_0000068284.
FT MOTIF 152 155 Nuclear localization signal (Potential).
FT MOD_RES 2 2 N-acetylalanine.
FT CONFLICT 166 166 F -> S (in Ref. 2; BAF85808).
FT CONFLICT 330 330 E -> G (in Ref. 2; BAF85808).
SQ SEQUENCE 339 AA; 40242 MW; 88BCA57E49B0AA32 CRC64;
MAQYKGAASE AGRAMHLMKK REKQREQMEQ MKQRIAEENI MKSNIDKKFS AHYDAVEAEL
KSSTVGLVTL NDMKAKQEAL VKEREKQLAK KEQSKELQMK LEKLREKERK KEAKRKISSL
SFTLEEEEEG GEEEEEAAMY EEEMEREEIT TKKRKLGKNP DVDTSFLPDR DREEEENRLR
EELRQEWEAK QEKIKSEEIE ITFSYWDGSG HRRTVKMRKG NTMQQFLQKA LEILRKDFSE
LRSAGVEQLM YIKEDLIIPH HHSFYDFIVT KARGKSGPLF NFDVHDDVRL LSDATVEKDE
SHAGKVVLRS WYEKNKHIFP ASRWEPYDPE KKWDKYTIR
//
MIM
300453
*RECORD*
*FIELD* NO
300453
*FIELD* TI
*300453 FAMILY WITH SEQUENCE SIMILARITY 50, MEMBER A; FAM50A
;;XAP5 GENE;;
DXS9928E;;
read moreHXC26;;
9F
*FIELD* TX
CLONING
By screening a human skeletal muscle cDNA library with a cosmid fragment
obtained from Xq28 by use of an enhanced promoter trap system, Toyoda et
al. (1996) cloned a partial XAP5 cDNA, which they called HXC-26.
Mazzarella et al. (1997) cloned a full-length XAP5 cDNA from a human
teratocarcinoma cDNA library. The full-length cDNA encodes a deduced
339-amino acid soluble protein with a predicted molecular mass of
approximately 40 kD. It contains 23% basic residues and an SV40 large T
antigen nuclear localization signal. By Northern blot analysis,
Mazzarella et al. (1997) detected a major 1.4-kb band in all tissues
examined, with an additional 1.8-kb band detectable in some tissues.
Expression was abundant in fetal brain, liver, and especially kidney,
with little signal from the equivalent adult organs; expression was high
in adult heart, skeletal muscle, spleen, thymus, prostate, and small
intestine.
GENE STRUCTURE
The XAP5 gene contains 13 exons and spans 6.5 to 8 kb of genomic
sequence (Toyoda et al., 1996; Mazzarella et al., 1997). Mazzarella et
al. (1997) identified a polymorphic CCG repeat region in the 5-prime UTR
of XAP5.
MOLECULAR GENETICS
By examination of 48 unrelated males with a PCR assay across the CCG
repeat region of the XAP5 gene, Mazzarella et al. (1997) demonstrated
that the longest CCG runs ranged from 8 to 12 repeats, with 9 repeats
being the most frequent.
MAPPING
By genomic sequence analysis, Toyoda et al. (1996) and Mazzarella et al.
(1997) identified the FAM50A gene at Xq28.
*FIELD* RF
1. Mazzarella, R.; Pengue, G.; Yoon, J.; Jones, J.; Schlessinger,
D.: Differential expression of XAP5, a candidate disease gene. Genomics 45:
216-219, 1997.
2. Toyoda, A.; Sakai, T.; Sugiyama, Y.; Kusuda, J.; Hashimoto, K.;
Maeda, H.: Isolation and analysis of a novel gene, HXC-26, adjacent
to the rab GDP dissociation inhibitor gene located at human chromosome
Xq28 region. DNA Res. 3: 337-340, 1996.
*FIELD* CD
Laura L. Baxter: 9/22/2003
*FIELD* ED
alopez: 05/31/2005
carol: 9/24/2003
carol: 9/23/2003
*RECORD*
*FIELD* NO
300453
*FIELD* TI
*300453 FAMILY WITH SEQUENCE SIMILARITY 50, MEMBER A; FAM50A
;;XAP5 GENE;;
DXS9928E;;
read moreHXC26;;
9F
*FIELD* TX
CLONING
By screening a human skeletal muscle cDNA library with a cosmid fragment
obtained from Xq28 by use of an enhanced promoter trap system, Toyoda et
al. (1996) cloned a partial XAP5 cDNA, which they called HXC-26.
Mazzarella et al. (1997) cloned a full-length XAP5 cDNA from a human
teratocarcinoma cDNA library. The full-length cDNA encodes a deduced
339-amino acid soluble protein with a predicted molecular mass of
approximately 40 kD. It contains 23% basic residues and an SV40 large T
antigen nuclear localization signal. By Northern blot analysis,
Mazzarella et al. (1997) detected a major 1.4-kb band in all tissues
examined, with an additional 1.8-kb band detectable in some tissues.
Expression was abundant in fetal brain, liver, and especially kidney,
with little signal from the equivalent adult organs; expression was high
in adult heart, skeletal muscle, spleen, thymus, prostate, and small
intestine.
GENE STRUCTURE
The XAP5 gene contains 13 exons and spans 6.5 to 8 kb of genomic
sequence (Toyoda et al., 1996; Mazzarella et al., 1997). Mazzarella et
al. (1997) identified a polymorphic CCG repeat region in the 5-prime UTR
of XAP5.
MOLECULAR GENETICS
By examination of 48 unrelated males with a PCR assay across the CCG
repeat region of the XAP5 gene, Mazzarella et al. (1997) demonstrated
that the longest CCG runs ranged from 8 to 12 repeats, with 9 repeats
being the most frequent.
MAPPING
By genomic sequence analysis, Toyoda et al. (1996) and Mazzarella et al.
(1997) identified the FAM50A gene at Xq28.
*FIELD* RF
1. Mazzarella, R.; Pengue, G.; Yoon, J.; Jones, J.; Schlessinger,
D.: Differential expression of XAP5, a candidate disease gene. Genomics 45:
216-219, 1997.
2. Toyoda, A.; Sakai, T.; Sugiyama, Y.; Kusuda, J.; Hashimoto, K.;
Maeda, H.: Isolation and analysis of a novel gene, HXC-26, adjacent
to the rab GDP dissociation inhibitor gene located at human chromosome
Xq28 region. DNA Res. 3: 337-340, 1996.
*FIELD* CD
Laura L. Baxter: 9/22/2003
*FIELD* ED
alopez: 05/31/2005
carol: 9/24/2003
carol: 9/23/2003