F1891_HUMAN
ID F1891_HUMAN Reviewed; 539 AA.
AC O60320; A0PK09;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 4.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Protein FAM189A1;
DE AltName: Full=Transmembrane protein 228;
GN Name=FAM189A1; Synonyms=KIAA0574, TMEM228;
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=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 5-218 (ISOFORM 1), AND VARIANTS ARG-375 AND HIS-393.
RC TISSUE=Retinal pigment epithelium;
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).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3-177 (ISOFORM 1).
RC TISSUE=Amygdala;
RX PubMed=16344560; DOI=10.1101/gr.4039406;
RA Kimura K., Wakamatsu A., Suzuki Y., Ota T., Nishikawa T., Yamashita R.,
RA Yamamoto J., Sekine M., Tsuritani K., Wakaguri H., Ishii S., Sugiyama T.,
RA Saito K., Isono Y., Irie R., Kushida N., Yoneyama T., Otsuka R., Kanda K.,
RA Yokoi T., Kondo H., Wagatsuma M., Murakawa K., Ishida S., Ishibashi T.,
RA Takahashi-Fujii A., Tanase T., Nagai K., Kikuchi H., Nakai K., Isogai T.,
RA Sugano S.;
RT "Diversification of transcriptional modulation: large-scale identification
RT and characterization of putative alternative promoters of human genes.";
RL Genome Res. 16:55-65(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 135-539 (ISOFORM 1), AND VARIANTS
RP ARG-375 AND HIS-393.
RC TISSUE=Brain;
RX PubMed=9628581; DOI=10.1093/dnares/5.1.31;
RA Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N.,
RA Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. IX. The
RT complete sequences of 100 new cDNA clones from brain which can code for
RT large proteins in vitro.";
RL DNA Res. 5:31-39(1998).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O60320-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O60320-2; Sequence=VSP_030273;
CC -!- SIMILARITY: Belongs to the FAM189 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BC127817; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BG752856; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AC102941; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC090763; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC107980; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC061965; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BG752856; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC127817; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; DA188047; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AB011146; BAA25500.1; -; mRNA.
DR CCDS; CCDS45198.1; -. [O60320-1]
DR RefSeq; NP_056122.1; NM_015307.1. [O60320-1]
DR AlphaFoldDB; O60320; -.
DR BioGRID; 116940; 1.
DR IntAct; O60320; 3.
DR STRING; 9606.ENSP00000261275; -.
DR TCDB; 1.A.37.4.1; the cd20 ca(2+) channel (cd20) family.
DR iPTMnet; O60320; -.
DR PhosphoSitePlus; O60320; -.
DR BioMuta; FAM189A1; -.
DR EPD; O60320; -.
DR MassIVE; O60320; -.
DR PaxDb; O60320; -.
DR PeptideAtlas; O60320; -.
DR PRIDE; O60320; -.
DR ProteomicsDB; 49345; -. [O60320-2]
DR TopDownProteomics; O60320-1; -. [O60320-1]
DR Antibodypedia; 2289; 29 antibodies from 10 providers.
DR DNASU; 23359; -.
DR Ensembl; ENST00000261275.5; ENSP00000261275.4; ENSG00000104059.5. [O60320-1]
DR GeneID; 23359; -.
DR KEGG; hsa:23359; -.
DR MANE-Select; ENST00000261275.5; ENSP00000261275.4; NM_015307.2; NP_056122.1.
DR UCSC; uc010azk.2; human. [O60320-1]
DR CTD; 23359; -.
DR DisGeNET; 23359; -.
DR GeneCards; FAM189A1; -.
DR HGNC; HGNC:29075; FAM189A1.
DR HPA; ENSG00000104059; Tissue enhanced (pancreas, thyroid gland).
DR MalaCards; FAM189A1; -.
DR neXtProt; NX_O60320; -.
DR OpenTargets; ENSG00000104059; -.
DR PharmGKB; PA165478574; -.
DR VEuPathDB; HostDB:ENSG00000104059; -.
DR eggNOG; ENOG502QUMS; Eukaryota.
DR GeneTree; ENSGT00530000063335; -.
DR HOGENOM; CLU_025607_1_1_1; -.
DR InParanoid; O60320; -.
DR OMA; HVVGTIR; -.
DR OrthoDB; 608892at2759; -.
DR PhylomeDB; O60320; -.
DR TreeFam; TF332736; -.
DR PathwayCommons; O60320; -.
DR BioGRID-ORCS; 23359; 13 hits in 1069 CRISPR screens.
DR ChiTaRS; FAM189A1; human.
DR GenomeRNAi; 23359; -.
DR Pharos; O60320; Tdark.
DR PRO; PR:O60320; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; O60320; protein.
DR Bgee; ENSG00000104059; Expressed in Ammon's horn and 91 other tissues.
DR ExpressionAtlas; O60320; baseline and differential.
DR Genevisible; O60320; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR007237; CD20-like.
DR InterPro; IPR030431; FAM189.
DR PANTHER; PTHR17615; PTHR17615; 1.
DR Pfam; PF04103; CD20; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..539
FT /note="Protein FAM189A1"
FT /id="PRO_0000314455"
FT TRANSMEM 31..51
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 65..85
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 89..109
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 176..196
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 301..481
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 305..355
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 357..376
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 390..421
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..196
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_030273"
FT VARIANT 228
FT /note="G -> S (in dbSNP:rs2292628)"
FT /id="VAR_059333"
FT VARIANT 314
FT /note="G -> D (in dbSNP:rs2306933)"
FT /id="VAR_059334"
FT VARIANT 375
FT /note="H -> R (in dbSNP:rs2256277)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9628581"
FT /id="VAR_039544"
FT VARIANT 393
FT /note="R -> H (in dbSNP:rs2256273)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9628581"
FT /id="VAR_039545"
FT VARIANT 431
FT /note="V -> A (in dbSNP:rs2279482)"
FT /id="VAR_059335"
SQ SEQUENCE 539 AA; 56544 MW; 43B9F5A654985E91 CRC64;
MPPAGGPRAP RPAALPRSLS RLRECPGRSR IVLALGATQM ALGCLIVAVS FAALALTTSA
RVRHSCPFWA GFSVLLSGLI GVVSWKRPLS LVITFFMLLS AVCVMLNLAG SILSCQNAQL
VNSLEGCQLI KFDSVEVCVC CELQHQSSGC SNLGETLKLN PLQENCNAVR LTLKDLLFSV
CALNVLSTIV CALATAMCCM QMVSSDVLQM FLPQRSHPAN PTCVTPHGTV LHQTLDFDEF
IPPLPPPPYY PPEYTCTPST EAQRGLHLDF APSPFGTLYD VAINSPGLLY PAELPPPYEA
VVGQPPASQV TSIGQQVAES SSGDPNTSAG FSTPVPADST SLLVSEGTAT PGSSPSPDGP
VGAPAPSEPA LPPGHVSPED PGMGSQVQPG PGRVSRSTSD PTLCTSSMAG DASSHRPSCS
QDLEAGLSEA VPGSASMSRS ATAACRAQLS PAGDPDTWKT DQRPTPEPFP ATSKERPRSL
VDSKAYADAR VLVAKFLEHS HCALPTEAQH MVGAMRLAVT NEERLEEEAV FGADVLDQV
