FA47C_HUMAN
ID FA47C_HUMAN Reviewed; 1035 AA.
AC Q5HY64; Q6ZU46;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-FEB-2005, sequence version 1.
DT 03-AUG-2022, entry version 108.
DE RecName: Full=Putative protein FAM47C;
GN Name=FAM47C;
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 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 77-1035.
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).
CC -!- SIMILARITY: Belongs to the FAM47 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC86381.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; BX842568; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK125992; BAC86381.1; ALT_INIT; mRNA.
DR CCDS; CCDS35227.1; -.
DR RefSeq; NP_001013758.1; NM_001013736.2.
DR AlphaFoldDB; Q5HY64; -.
DR STRING; 9606.ENSP00000367913; -.
DR iPTMnet; Q5HY64; -.
DR PhosphoSitePlus; Q5HY64; -.
DR BioMuta; FAM47C; -.
DR DMDM; 74741513; -.
DR EPD; Q5HY64; -.
DR MassIVE; Q5HY64; -.
DR PaxDb; Q5HY64; -.
DR PeptideAtlas; Q5HY64; -.
DR PRIDE; Q5HY64; -.
DR DNASU; 442444; -.
DR Ensembl; ENST00000358047.5; ENSP00000367913.3; ENSG00000198173.5.
DR GeneID; 442444; -.
DR KEGG; hsa:442444; -.
DR MANE-Select; ENST00000358047.5; ENSP00000367913.3; NM_001013736.3; NP_001013758.1.
DR UCSC; uc004ddl.3; human.
DR CTD; 442444; -.
DR DisGeNET; 442444; -.
DR GeneCards; FAM47C; -.
DR HGNC; HGNC:25301; FAM47C.
DR HPA; ENSG00000198173; Tissue enriched (testis).
DR MIM; 301067; gene.
DR neXtProt; NX_Q5HY64; -.
DR OpenTargets; ENSG00000198173; -.
DR PharmGKB; PA145148924; -.
DR VEuPathDB; HostDB:ENSG00000198173; -.
DR eggNOG; ENOG502SEIG; Eukaryota.
DR GeneTree; ENSGT00940000163970; -.
DR HOGENOM; CLU_325693_0_0_1; -.
DR InParanoid; Q5HY64; -.
DR OMA; MGYGAWY; -.
DR OrthoDB; 678383at2759; -.
DR PhylomeDB; Q5HY64; -.
DR TreeFam; TF340932; -.
DR PathwayCommons; Q5HY64; -.
DR BioGRID-ORCS; 442444; 13 hits in 687 CRISPR screens.
DR GenomeRNAi; 442444; -.
DR Pharos; Q5HY64; Tdark.
DR PRO; PR:Q5HY64; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q5HY64; protein.
DR Bgee; ENSG00000198173; Expressed in sperm and 5 other tissues.
DR Genevisible; Q5HY64; HS.
DR InterPro; IPR032743; FAM47.
DR InterPro; IPR026083; FAM47C/D.
DR PANTHER; PTHR47415:SF2; PTHR47415:SF2; 7.
DR Pfam; PF14642; FAM47; 10.
PE 2: Evidence at transcript level;
KW Reference proteome.
FT CHAIN 1..1035
FT /note="Putative protein FAM47C"
FT /id="PRO_0000349311"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 159..797
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 159..176
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 193..210
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 223..237
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 288..302
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 924
FT /note="N -> T (in dbSNP:rs1995914)"
FT /id="VAR_046358"
FT CONFLICT 275
FT /note="P -> S (in Ref. 2; BAC86381)"
FT /evidence="ECO:0000305"
FT CONFLICT 482
FT /note="D -> N (in Ref. 2; BAC86381)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1035 AA; 115338 MW; 2752692CC5AC9DE7 CRC64;
MGDQRPQDRP SSPGMDSTPW YCDKPPSKYF AKRKHRRLRF PPVDTQNWVF VTEGMDDFRY
GCQSPEDTLV CRRDEFLLPK ISLRGPQADP KSRKKKLLKK AALFSKLSPA QPARKAFVEE
VEAQLMTKHP LAMYPNLGED MPPDLLLQVL KPLDPERKLE DAGSCEGQEK TTDEPTEPGK
YPCGEFSPRP PETRVSCLPP EPPKTPVSSL RPEPPETGVS HLRPQPPKTQ VSSLHLEPPE
TGVSHLRPEP PKTQVSSLHL EPPETGVSHL YLEPPGTGVS HLCPEPPKTR VSHLHREPPE
TGVPDLCLEP PKSRVSHLRP EPSETGVSHL HPEPPKTLVS SLHPEPPETG VSHLCPEPPE
TRVSPLRQLP PEAGVSHLCP EPPKTRVPPL RPETPKNGVS PLFPEPPKTR ISNLRSEPPK
IGVSHLCLEP PKTRGSHLRP EPPETGVSHL RPEPPKTRVS SLHLEPPETG VSHLCPEPPE
KDVSHLRPEP PDTGVSHLCP EPPKTRVSHL RPEPSETGVS HLRPEPPKIL VSSLHQAPPE
SSVSHLRPEP PETGVSHLRP EPPKTRMYSL RPEPPDTGVS HLCPEPPKTR VSSLPPEPPE
TGVSHLCPEP PETRVSHLRP EPPETGVSHL RPEPPKTRMY SLRPEPPNTG VSHLCPEPPK
TRVSSLPPEP PETGVSHLCP EPPETRVSHL RPEPPETGVS RLHPEPPKTR VSSLHAEPPE
SRVSHLCPEP PETGVSHLRP EPPKPRVSSL RPEPLETRVS HLRPEPPETG VSHLHPELPK
PRVSSLHLEP PKTRRVSSLR LEPPKTGRVS SLCPEPTKTG ASHLKELFQE GTSSTMECVS
DSLQRRHTSR KLRDFKWAGD LGVNEESISS LFDFTPECRA TYQDQKNKKA NECSSGLKYS
MELDEMDEVK FFSQEKDLDG KIQNAPNSHS AQHVKMGYGA WYLKPKLGKK LRSDEPLIDP
KLVLEKPDEP DILDGLYGPI AFKDFILSKG YEMPGIIQRL FARRGWTYDS VKTPIQRAMQ
VYKYKEDVTD ASEED
