M4A12_HUMAN
ID M4A12_HUMAN Reviewed; 267 AA.
AC Q9NXJ0; F5GX98; Q8N6L4;
DT 04-APR-2003, integrated into UniProtKB/Swiss-Prot.
DT 04-APR-2003, sequence version 2.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Membrane-spanning 4-domains subfamily A member 12;
GN Name=MS4A12;
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] (ISOFORM 1).
RC TISSUE=Colon mucosa;
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=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Colon, Kidney, and Stomach;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-219 (ISOFORM 2).
RC TISSUE=Small intestine;
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).
CC -!- FUNCTION: May be involved in signal transduction as a component of a
CC multimeric receptor complex.
CC -!- INTERACTION:
CC Q9NXJ0; Q9BU27: FAM3A; NbExp=3; IntAct=EBI-10227644, EBI-10298603;
CC Q9NXJ0; Q13021: MALL; NbExp=6; IntAct=EBI-10227644, EBI-750078;
CC Q9NXJ0; Q9Y342: PLLP; NbExp=6; IntAct=EBI-10227644, EBI-3919291;
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NXJ0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NXJ0-2; Sequence=VSP_044899;
CC -!- SIMILARITY: Belongs to the MS4A family. {ECO:0000305}.
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DR EMBL; AK000224; BAA91020.1; -; mRNA.
DR EMBL; AP001034; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC029793; AAH29793.1; -; mRNA.
DR EMBL; BP262976; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS53638.1; -. [Q9NXJ0-2]
DR CCDS; CCDS7988.1; -. [Q9NXJ0-1]
DR RefSeq; NP_001157942.1; NM_001164470.1. [Q9NXJ0-2]
DR RefSeq; NP_060186.2; NM_017716.2. [Q9NXJ0-1]
DR RefSeq; XP_011543419.1; XM_011545117.2. [Q9NXJ0-1]
DR AlphaFoldDB; Q9NXJ0; -.
DR BioGRID; 120210; 10.
DR IntAct; Q9NXJ0; 3.
DR STRING; 9606.ENSP00000016913; -.
DR iPTMnet; Q9NXJ0; -.
DR PhosphoSitePlus; Q9NXJ0; -.
DR BioMuta; MS4A12; -.
DR DMDM; 29611831; -.
DR MassIVE; Q9NXJ0; -.
DR PaxDb; Q9NXJ0; -.
DR PeptideAtlas; Q9NXJ0; -.
DR PRIDE; Q9NXJ0; -.
DR ProteomicsDB; 24356; -.
DR ProteomicsDB; 83104; -. [Q9NXJ0-1]
DR Antibodypedia; 27927; 137 antibodies from 20 providers.
DR DNASU; 54860; -.
DR Ensembl; ENST00000016913.8; ENSP00000016913.4; ENSG00000071203.9. [Q9NXJ0-1]
DR Ensembl; ENST00000537076.5; ENSP00000440424.1; ENSG00000071203.9. [Q9NXJ0-2]
DR GeneID; 54860; -.
DR KEGG; hsa:54860; -.
DR MANE-Select; ENST00000016913.8; ENSP00000016913.4; NM_017716.3; NP_060186.2.
DR UCSC; uc001npr.4; human. [Q9NXJ0-1]
DR CTD; 54860; -.
DR DisGeNET; 54860; -.
DR GeneCards; MS4A12; -.
DR HGNC; HGNC:13370; MS4A12.
DR HPA; ENSG00000071203; Tissue enriched (intestine).
DR MIM; 606550; gene.
DR neXtProt; NX_Q9NXJ0; -.
DR OpenTargets; ENSG00000071203; -.
DR PharmGKB; PA134971353; -.
DR VEuPathDB; HostDB:ENSG00000071203; -.
DR eggNOG; ENOG502S2RH; Eukaryota.
DR GeneTree; ENSGT00940000162443; -.
DR InParanoid; Q9NXJ0; -.
DR OMA; TNFREEA; -.
DR OrthoDB; 1231793at2759; -.
DR PhylomeDB; Q9NXJ0; -.
DR TreeFam; TF335157; -.
DR PathwayCommons; Q9NXJ0; -.
DR SignaLink; Q9NXJ0; -.
DR BioGRID-ORCS; 54860; 11 hits in 1069 CRISPR screens.
DR GenomeRNAi; 54860; -.
DR Pharos; Q9NXJ0; Tdark.
DR PRO; PR:Q9NXJ0; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9NXJ0; protein.
DR Bgee; ENSG00000071203; Expressed in mucosa of transverse colon and 51 other tissues.
DR ExpressionAtlas; Q9NXJ0; baseline and differential.
DR Genevisible; Q9NXJ0; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0007166; P:cell surface receptor signaling pathway; IBA:GO_Central.
DR InterPro; IPR007237; CD20-like.
DR InterPro; IPR030417; MS4A.
DR InterPro; IPR030422; MS4A12.
DR PANTHER; PTHR23320; PTHR23320; 1.
DR PANTHER; PTHR23320:SF72; PTHR23320:SF72; 1.
DR Pfam; PF04103; CD20; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Receptor; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..267
FT /note="Membrane-spanning 4-domains subfamily A member 12"
FT /id="PRO_0000158648"
FT TOPO_DOM 1..91
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 92..112
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 113..120
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 121..141
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 142..160
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 161..181
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 182..200
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 201..221
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 222..267
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 248..267
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 93..138
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16344560"
FT /id="VSP_044899"
FT VARIANT 10
FT /note="A -> D (in dbSNP:rs12788393)"
FT /id="VAR_057653"
FT CONFLICT 23
FT /note="S -> G (in Ref. 1; BAA91020)"
FT /evidence="ECO:0000305"
FT CONFLICT 202
FT /note="I -> F (in Ref. 4; BP262976)"
FT /evidence="ECO:0000305"
FT CONFLICT 210
FT /note="S -> L (in Ref. 4; BP262976)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 267 AA; 28069 MW; CDE0BBA77F2F6363 CRC64;
MMSSKPTSHA EVNETIPNPY PPSSFMAPGF QQPLGSINLE NQAQGAQRAQ PYGITSPGIF
ASSQPGQGNI QMINPSVGTA VMNFKEEAKA LGVIQIMVGL MHIGFGIVLC LISFSFREVL
GFASTAVIGG YPFWGGLSFI ISGSLSVSAS KELSRCLVKG SLGMNIVSSI LAFIGVILLL
VDMCINGVAG QDYWAVLSGK GISATLMIFS LLEFFVACAT AHFANQANTT TNMSVLVIPN
MYESNPVTPA SSSAPPRCNN YSANAPK
