F217A_HUMAN
ID F217A_HUMAN Reviewed; 508 AA.
AC Q8IXS0; Q5JYK1;
DT 16-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 16-AUG-2005, sequence version 2.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Protein FAM217A;
GN Name=FAM217A; Synonyms=C6orf146;
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=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ILE-431.
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 -!- INTERACTION:
CC Q8IXS0; Q8IYF3-3: TEX11; NbExp=3; IntAct=EBI-10694567, EBI-11523345;
CC -!- SIMILARITY: Belongs to the FAM217 family. {ECO:0000305}.
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DR EMBL; AL033383; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC039349; AAH39349.1; -; mRNA.
DR CCDS; CCDS4489.1; -.
DR RefSeq; NP_775834.2; NM_173563.2.
DR AlphaFoldDB; Q8IXS0; -.
DR BioGRID; 128817; 3.
DR IntAct; Q8IXS0; 2.
DR STRING; 9606.ENSP00000274673; -.
DR GlyGen; Q8IXS0; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8IXS0; -.
DR PhosphoSitePlus; Q8IXS0; -.
DR BioMuta; FAM217A; -.
DR MaxQB; Q8IXS0; -.
DR PaxDb; Q8IXS0; -.
DR PeptideAtlas; Q8IXS0; -.
DR PRIDE; Q8IXS0; -.
DR ProteomicsDB; 71054; -.
DR Antibodypedia; 44131; 64 antibodies from 15 providers.
DR DNASU; 222826; -.
DR Ensembl; ENST00000274673.8; ENSP00000274673.3; ENSG00000145975.15.
DR GeneID; 222826; -.
DR KEGG; hsa:222826; -.
DR MANE-Select; ENST00000274673.8; ENSP00000274673.3; NM_173563.3; NP_775834.2.
DR UCSC; uc003mvx.4; human.
DR CTD; 222826; -.
DR GeneCards; FAM217A; -.
DR HGNC; HGNC:21362; FAM217A.
DR HPA; ENSG00000145975; Tissue enriched (testis).
DR neXtProt; NX_Q8IXS0; -.
DR OpenTargets; ENSG00000145975; -.
DR PharmGKB; PA134935759; -.
DR VEuPathDB; HostDB:ENSG00000145975; -.
DR eggNOG; ENOG502SAD6; Eukaryota.
DR GeneTree; ENSGT00940000154543; -.
DR HOGENOM; CLU_026138_0_0_1; -.
DR InParanoid; Q8IXS0; -.
DR OrthoDB; 529883at2759; -.
DR PhylomeDB; Q8IXS0; -.
DR TreeFam; TF337855; -.
DR PathwayCommons; Q8IXS0; -.
DR SignaLink; Q8IXS0; -.
DR BioGRID-ORCS; 222826; 15 hits in 1069 CRISPR screens.
DR ChiTaRS; FAM217A; human.
DR GenomeRNAi; 222826; -.
DR Pharos; Q8IXS0; Tdark.
DR PRO; PR:Q8IXS0; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q8IXS0; protein.
DR Bgee; ENSG00000145975; Expressed in sperm and 103 other tissues.
DR ExpressionAtlas; Q8IXS0; baseline and differential.
DR Genevisible; Q8IXS0; HS.
DR InterPro; IPR029266; FAM217.
DR PANTHER; PTHR22145; PTHR22145; 1.
DR Pfam; PF15344; FAM217; 1.
PE 1: Evidence at protein level;
KW Reference proteome.
FT CHAIN 1..508
FT /note="Protein FAM217A"
FT /id="PRO_0000089540"
FT VARIANT 258
FT /note="A -> T (in dbSNP:rs639905)"
FT /id="VAR_056801"
FT VARIANT 309
FT /note="Q -> P (in dbSNP:rs10080405)"
FT /id="VAR_056802"
FT VARIANT 360
FT /note="C -> S (in dbSNP:rs17137618)"
FT /id="VAR_056803"
FT VARIANT 431
FT /note="V -> I (in dbSNP:rs595413)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_023207"
FT VARIANT 442
FT /note="M -> V (in dbSNP:rs10485172)"
FT /id="VAR_056804"
SQ SEQUENCE 508 AA; 57420 MW; 883F88EFF7AC7D2C CRC64;
MGRRNENCAN SLRVSNISQE NLSHWNLDSE VPVSENKNLP AGRDGAAGGK INKNYLEIPV
EQLMLEPNLS VHSQKSTQNS KQGIFQLWNC PLNEGSTIEK REFKKSSVET GFNVINHPIR
VFTLNHPLTI ASVDKQVGPY PGLPMPLGLC WPYADGDFFK NRNEIHVSSC STIENNDGET
LPAPNWNLKH GNSSVEENFT DESDLSENEK TNDTLLSYFK KVDLNLKPET IKNVEEPFTE
EPNEVFPYPD FLPPPFSALD LHNLALSKSD NWKVTVDPAE TSVEHLITRL LELERLQHMT
IQKERPRLQT TFCTPAVTER PSSSKATPKV RQPKLCDSLS LQIPCVDKSQ EKSKNNSGSC
KLEQNALKRN WSNAGKYRWN SRPLSLKSSS TPKQLIETYD KNPKSSILSP CQELSFKPTI
GHTNQSMVKM VSTRCLPWRS PMPVSPIPLT FPENQKEEIK APKRNFGTKK KLYRQNIVLN
RPFSIQKLNC LSPSLIAKDK CCSPIEQK