FA47A_HUMAN
ID FA47A_HUMAN Reviewed; 791 AA.
AC Q5JRC9; A8K8I9; Q8TAA0;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 10-FEB-2009, sequence version 3.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=Protein FAM47A;
GN Name=FAM47A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT 495-PRO--GLU-507 DEL.
RC TISSUE=Testis;
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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA 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 [2]
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., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., 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., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., 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., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., 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., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., 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., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS LEU-50; GLU-232 AND
RP 495-PRO--GLU-507 DEL.
RC TISSUE=Testis;
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- POLYMORPHISM: The repeat encompassing Pro-495 to Glu-507 may be
CC polymorphic. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the FAM47 family. {ECO:0000305}.
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DR EMBL; AK292354; BAF85043.1; -; mRNA.
DR EMBL; AL591625; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC026171; AAH26171.1; -; mRNA.
DR CCDS; CCDS43926.1; -.
DR RefSeq; NP_981953.2; NM_203408.3.
DR AlphaFoldDB; Q5JRC9; -.
DR BioGRID; 127700; 2.
DR STRING; 9606.ENSP00000345029; -.
DR iPTMnet; Q5JRC9; -.
DR PhosphoSitePlus; Q5JRC9; -.
DR BioMuta; FAM47A; -.
DR DMDM; 223590225; -.
DR EPD; Q5JRC9; -.
DR MassIVE; Q5JRC9; -.
DR PaxDb; Q5JRC9; -.
DR PeptideAtlas; Q5JRC9; -.
DR PRIDE; Q5JRC9; -.
DR Antibodypedia; 435; 38 antibodies from 14 providers.
DR DNASU; 158724; -.
DR Ensembl; ENST00000346193.5; ENSP00000345029.3; ENSG00000185448.12.
DR GeneID; 158724; -.
DR KEGG; hsa:158724; -.
DR MANE-Select; ENST00000346193.5; ENSP00000345029.3; NM_203408.4; NP_981953.2.
DR UCSC; uc004ddg.4; human.
DR CTD; 158724; -.
DR GeneCards; FAM47A; -.
DR HGNC; HGNC:29962; FAM47A.
DR HPA; ENSG00000185448; Tissue enriched (testis).
DR neXtProt; NX_Q5JRC9; -.
DR OpenTargets; ENSG00000185448; -.
DR PharmGKB; PA134944222; -.
DR VEuPathDB; HostDB:ENSG00000185448; -.
DR eggNOG; ENOG502SEIG; Eukaryota.
DR GeneTree; ENSGT00940000163970; -.
DR InParanoid; Q5JRC9; -.
DR OMA; VSILCRE; -.
DR OrthoDB; 678383at2759; -.
DR PhylomeDB; Q5JRC9; -.
DR TreeFam; TF340932; -.
DR PathwayCommons; Q5JRC9; -.
DR BioGRID-ORCS; 158724; 8 hits in 683 CRISPR screens.
DR GenomeRNAi; 158724; -.
DR Pharos; Q5JRC9; Tdark.
DR PRO; PR:Q5JRC9; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q5JRC9; protein.
DR Bgee; ENSG00000185448; Expressed in sperm and 4 other tissues.
DR ExpressionAtlas; Q5JRC9; baseline and differential.
DR Genevisible; Q5JRC9; HS.
DR InterPro; IPR032743; FAM47.
DR Pfam; PF14642; FAM47; 5.
PE 2: Evidence at transcript level;
KW Reference proteome.
FT CHAIN 1..791
FT /note="Protein FAM47A"
FT /id="PRO_0000187037"
FT REGION 195..257
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 274..409
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 449..573
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 274..291
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 331..350
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 503..520
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 521..535
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 539..558
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 50
FT /note="F -> L (in dbSNP:rs17856750)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_054412"
FT VARIANT 232
FT /note="V -> E (in dbSNP:rs17856751)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_054413"
FT VARIANT 377
FT /note="A -> S (in dbSNP:rs1811716)"
FT /id="VAR_054414"
FT VARIANT 495..507
FT /note="Missing"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_054415"
FT VARIANT 531
FT /note="G -> R (in dbSNP:rs5971820)"
FT /id="VAR_054416"
SQ SEQUENCE 791 AA; 90592 MW; 03E73A0CBCF018FC CRC64;
MGDQRLQDWL RSPGMDSKPW YCNKRPSKCF AKCKHRRLRF PPMDTQNWVF VKEGMDDFRY
GCPSPEDTLV CRRDEFLLPK ISLRGPQADP KSGQKKLLKK AALFSKLSPA QLARKAFVEQ
VEAQLMAKHP LAMYPNLGED MPPDLLLQVL KHLDPERELE DAWACCETQE KTTEVPTEPG
KHPCGEFCLK PPETPVSHLL PEPPETGVSH LSPEPPKTPV SSLRPEPPET GVSHLRPEPP
ETGVSHIRPG PPITRRRSSL LRQLLKLDSE RKLEDARAPC EGREKTTDEP TEPGKYPCGK
FCPRPFETPL SHLRQEPPKT PVSSLRPEPP ETGESHLRLE HSKTRRGSSL RSEPSETGVS
RLRLAPPKTR RGSSLHAEPS KTGVSHLSPE PPKTEVSHLH PVPPKTGVCH LRLEPPDTSQ
VSNLLLYILK VLDSGRTLKD VWDRCEARVK KTKEPTEPHK SPCGEPCLQP PETQVSHPHP
EHPKTRRRSS LHSQPPKTRR TSSLRSEPPK TRRTSSLRSE PPKTRRTSSL GPEPPKTRRV
SSLRPELPKS RRVSSLHPEP PKAPESHQFS EPPKIRASYI KELLQEDTPS TKECVSDSLQ
YRYTSEKLRE FFKWAGDLGA DEESIRNLFD FTPKYRATHE DQKFKKVKEC SSELKYSMEL
DEKDEDKFFS QEKYWGRKFH TPSNSYTAQR VKMKYGAWYL KPKLWKKLRS DEPLIDPKLL
LKKPDEPDVL DDLYGPIAFK DFILSKGYEM PGIIQRLFAR RGWTYDSVKT PIQRAMIFYK
YKEIVEASEE D
