F209B_HUMAN
ID F209B_HUMAN Reviewed; 171 AA.
AC Q5JX69; Q3KRB5;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 15-FEB-2005, sequence version 1.
DT 03-AUG-2022, entry version 112.
DE RecName: Full=Protein FAM209B;
DE Flags: Precursor;
GN Name=FAM209B {ECO:0000312|HGNC:HGNC:16101}; Synonyms=C20orf107;
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=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LYS-74.
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 -!- FUNCTION: May play a role in sperm acrosome biogenesis.
CC {ECO:0000250|UniProtKB:A2APA5}.
CC -!- SUBCELLULAR LOCATION: Nucleus inner membrane
CC {ECO:0000250|UniProtKB:A2APA5}; Single-pass type I membrane protein
CC {ECO:0000255}.
CC -!- MISCELLANEOUS: The primate lineage appears to have undergone gene
CC duplication of FAM209, such that humans contain FAM209A and FAM209B.
CC {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the FAM209 family. {ECO:0000305}.
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DR EMBL; AL109806; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC105792; AAI05793.1; -; mRNA.
DR CCDS; CCDS33494.1; -.
DR RefSeq; NP_001013668.2; NM_001013646.3.
DR AlphaFoldDB; Q5JX69; -.
DR STRING; 9606.ENSP00000360376; -.
DR iPTMnet; Q5JX69; -.
DR PhosphoSitePlus; Q5JX69; -.
DR BioMuta; FAM209B; -.
DR DMDM; 74742706; -.
DR MassIVE; Q5JX69; -.
DR PaxDb; Q5JX69; -.
DR PeptideAtlas; Q5JX69; -.
DR PRIDE; Q5JX69; -.
DR ProteomicsDB; 63431; -.
DR Antibodypedia; 52594; 40 antibodies from 7 providers.
DR DNASU; 388799; -.
DR Ensembl; ENST00000371325.1; ENSP00000360376.1; ENSG00000213714.1.
DR GeneID; 388799; -.
DR KEGG; hsa:388799; -.
DR MANE-Select; ENST00000371325.1; ENSP00000360376.1; NM_001013646.4; NP_001013668.2.
DR UCSC; uc002xxz.5; human.
DR CTD; 388799; -.
DR GeneCards; FAM209B; -.
DR HGNC; HGNC:16101; FAM209B.
DR HPA; ENSG00000213714; Tissue enriched (testis).
DR neXtProt; NX_Q5JX69; -.
DR OpenTargets; ENSG00000213714; -.
DR PharmGKB; PA25646; -.
DR VEuPathDB; HostDB:ENSG00000213714; -.
DR eggNOG; ENOG502SQY6; Eukaryota.
DR GeneTree; ENSGT00390000005057; -.
DR HOGENOM; CLU_1585866_0_0_1; -.
DR InParanoid; Q5JX69; -.
DR OMA; KWLWLFF; -.
DR OrthoDB; 1258912at2759; -.
DR PhylomeDB; Q5JX69; -.
DR TreeFam; TF338191; -.
DR PathwayCommons; Q5JX69; -.
DR BioGRID-ORCS; 388799; 12 hits in 1036 CRISPR screens.
DR ChiTaRS; FAM209B; human.
DR GenomeRNAi; 388799; -.
DR Pharos; Q5JX69; Tdark.
DR PRO; PR:Q5JX69; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q5JX69; protein.
DR Bgee; ENSG00000213714; Expressed in sperm and 95 other tissues.
DR Genevisible; Q5JX69; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005637; C:nuclear inner membrane; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR InterPro; IPR027943; FAM209.
DR PANTHER; PTHR35157; PTHR35157; 1.
DR Pfam; PF15206; FAM209; 1.
PE 2: Evidence at transcript level;
KW Differentiation; Membrane; Nucleus; Reference proteome; Signal;
KW Spermatogenesis; Transmembrane; Transmembrane helix.
FT SIGNAL 1..19
FT /evidence="ECO:0000255"
FT CHAIN 20..171
FT /note="Protein FAM209B"
FT /id="PRO_0000236040"
FT TOPO_DOM 20..52
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 53..73
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 74..171
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT VARIANT 74
FT /note="Q -> K (in dbSNP:rs3209183)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_050918"
FT VARIANT 84
FT /note="E -> K (in dbSNP:rs61440263)"
FT /id="VAR_061633"
FT VARIANT 129
FT /note="E -> A (in dbSNP:rs2296129)"
FT /id="VAR_033762"
FT CONFLICT 37..38
FT /note="PC -> QY (in Ref. 2; AAI05793)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 171 AA; 19499 MW; 8B24B54EB89505A8 CRC64;
MWTLKSSLVL LLCLTCSYAF MFSSLRQKTS EPQGKVPCGE HFRIRQNLPE HTQGWLGSKW
LWLLFAVVPF VILQCQRDSE KNKEQSPPGL RGFPFRTPLK KNQNASLYKD CVFNTLNELE
VELLKFVSEV QNLKGAMATG SGSNLKLRRS EMPADPYHVT ICKIWGEESS S
