M4A6A_HUMAN
ID M4A6A_HUMAN Reviewed; 248 AA.
AC Q9H2W1; A8K755; F8W9K1; Q7Z4E8; Q8TBV7; Q8TEZ4; Q8TEZ5; Q96PG6; Q9H2L1;
AC Q9H2N3; Q9H3V1; Q9HC76;
DT 09-MAY-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Membrane-spanning 4-domains subfamily A member 6A;
DE AltName: Full=CD20 antigen-like 3;
DE AltName: Full=Four-span transmembrane protein 3;
GN Name=MS4A6A; Synonyms=4SPAN3, CD20L3, MS4A6; ORFNames=CDA01, MSTP090;
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 [MRNA] (ISOFORM 3).
RX PubMed=11245982; DOI=10.1016/s0378-1119(00)00598-9;
RA Ishibashi K., Suzuki M., Sasaki S., Imai M.;
RT "Identification of a new multigene four-transmembrane family (MS4A) related
RT to CD20, HTm4 and beta subunit of the high-affinity IgE receptor.";
RL Gene 264:87-93(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS SER-183 AND SER-185.
RC TISSUE=Liver, and Spleen;
RX PubMed=11401424; DOI=10.1006/geno.2000.6472;
RA Liang Y., Tedder T.F.;
RT "Identification of a CD20-, Fc-epsilon-RI-beta-, and HTm4-related gene
RT family: sixteen new MS4A family members expressed in human and mouse.";
RL Genomics 72:119-127(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Fetal liver;
RX PubMed=11486273; DOI=10.1007/s002510100339;
RA Liang Y., Buckley T.R., Tu L., Langdon S.D., Tedder T.F.;
RT "Structural organization of the human MS4A gene cluster on chromosome
RT 11q12.";
RL Immunogenetics 53:357-368(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RA Zhang W., Wan T., He L., Yuan Z., Cao X.;
RT "Novel human CD20-like molecule.";
RL Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Dendritic cell;
RA Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z.;
RL Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
RA Hulett M.D., Pagler E., Hogarth P.M., Eyre H.J., Baker E., Crawford J.,
RA Sutherland G.R., Parish C.R.;
RT "Isolation of a family of hematopoietic-expressed four-transmembrane genes
RT related to CD20 and Fc-epsilon-RI-beta.";
RL Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC TISSUE=Aorta;
RA Qin B.M., Liu B., Sheng H., Zhang Q., Liu Y.Q., Zhao B., Wang X.Y.,
RA Song L., Gao Y., Zhang C.L., Ye J., Ji X.J., Liu B.H., Lu H., Xu H.S.,
RA Chen J.Z., Cai M.Q., Zheng W.Y., Teng C.Y., Liu Q., Yu L.T., Lin J.,
RA Gong J., Zhang A.M., Gao R.L., Hui R.T.;
RL Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Pheochromocytoma;
RA Li Y., Huang Q., Peng Y., Song H., Yu Y., Xu S., Ren S., Chen Z., Han Z.;
RT "A novel gene expressed in human pheochromocytoma.";
RL Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Skeletal muscle;
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 [10]
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 [11]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [12]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Skeletal muscle;
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 be involved in signal transduction as a component of a
CC multimeric receptor complex.
CC -!- INTERACTION:
CC Q9H2W1; Q9NZD1: GPRC5D; NbExp=3; IntAct=EBI-1266965, EBI-13067820;
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1; Synonyms=3.1;
CC IsoId=Q9H2W1-1; Sequence=Displayed;
CC Name=2; Synonyms=3.2;
CC IsoId=Q9H2W1-2; Sequence=VSP_007381, VSP_007382;
CC Name=3;
CC IsoId=Q9H2W1-3; Sequence=VSP_007383, VSP_007384;
CC Name=4;
CC IsoId=Q9H2W1-4; Sequence=VSP_041191, VSP_041192;
CC Name=5;
CC IsoId=Q9H2W1-5; Sequence=VSP_056732, VSP_007381, VSP_007382;
CC -!- TISSUE SPECIFICITY: Variable expression in some B-cell, myelomonocytic,
CC and erythroleukemia cell lines.
CC -!- SIMILARITY: Belongs to the MS4A family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAG44626.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAG44672.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AB013104; BAB18740.1; -; mRNA.
DR EMBL; AF237908; AAK37417.1; -; mRNA.
DR EMBL; AF286866; AAK37994.1; -; mRNA.
DR EMBL; AF354930; AAL07357.1; -; mRNA.
DR EMBL; AF142409; AAG27920.1; -; mRNA.
DR EMBL; AF253977; AAG44626.1; ALT_FRAME; mRNA.
DR EMBL; AF261136; AAG44672.1; ALT_FRAME; mRNA.
DR EMBL; AF350502; AAL56222.1; -; mRNA.
DR EMBL; AF350503; AAL56223.1; -; mRNA.
DR EMBL; AF172819; AAQ13613.1; -; mRNA.
DR EMBL; AF212240; AAG41780.1; -; mRNA.
DR EMBL; AK291870; BAF84559.1; -; mRNA.
DR EMBL; AP003970; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471076; EAW73867.1; -; Genomic_DNA.
DR EMBL; BC022854; AAH22854.1; -; mRNA.
DR CCDS; CCDS44615.1; -. [Q9H2W1-2]
DR CCDS; CCDS44616.1; -. [Q9H2W1-3]
DR CCDS; CCDS58134.1; -. [Q9H2W1-5]
DR CCDS; CCDS7981.1; -. [Q9H2W1-1]
DR RefSeq; NP_001234928.1; NM_001247999.1. [Q9H2W1-5]
DR RefSeq; NP_071744.2; NM_022349.3. [Q9H2W1-2]
DR RefSeq; NP_690590.1; NM_152851.2. [Q9H2W1-3]
DR RefSeq; NP_690591.1; NM_152852.2. [Q9H2W1-1]
DR AlphaFoldDB; Q9H2W1; -.
DR BioGRID; 122119; 5.
DR IntAct; Q9H2W1; 7.
DR STRING; 9606.ENSP00000392770; -.
DR iPTMnet; Q9H2W1; -.
DR PhosphoSitePlus; Q9H2W1; -.
DR BioMuta; MS4A6A; -.
DR DMDM; 30580461; -.
DR EPD; Q9H2W1; -.
DR MassIVE; Q9H2W1; -.
DR PaxDb; Q9H2W1; -.
DR PeptideAtlas; Q9H2W1; -.
DR PRIDE; Q9H2W1; -.
DR ProteomicsDB; 30338; -.
DR ProteomicsDB; 80605; -. [Q9H2W1-1]
DR ProteomicsDB; 80606; -. [Q9H2W1-2]
DR ProteomicsDB; 80607; -. [Q9H2W1-3]
DR ProteomicsDB; 80608; -. [Q9H2W1-4]
DR Antibodypedia; 27866; 191 antibodies from 27 providers.
DR DNASU; 64231; -.
DR Ensembl; ENST00000412309.6; ENSP00000403212.2; ENSG00000110077.15. [Q9H2W1-5]
DR Ensembl; ENST00000420732.6; ENSP00000392921.2; ENSG00000110077.15. [Q9H2W1-3]
DR Ensembl; ENST00000426738.6; ENSP00000392770.3; ENSG00000110077.15. [Q9H2W1-5]
DR Ensembl; ENST00000528851.6; ENSP00000431901.1; ENSG00000110077.15. [Q9H2W1-2]
DR Ensembl; ENST00000530839.5; ENSP00000436979.1; ENSG00000110077.15. [Q9H2W1-1]
DR Ensembl; ENST00000532169.5; ENSP00000431266.1; ENSG00000110077.15. [Q9H2W1-4]
DR GeneID; 64231; -.
DR KEGG; hsa:64231; -.
DR MANE-Select; ENST00000528851.6; ENSP00000431901.1; NM_022349.4; NP_071744.2. [Q9H2W1-2]
DR UCSC; uc001noq.4; human. [Q9H2W1-1]
DR CTD; 64231; -.
DR DisGeNET; 64231; -.
DR GeneCards; MS4A6A; -.
DR HGNC; HGNC:13375; MS4A6A.
DR HPA; ENSG00000110077; Low tissue specificity.
DR MIM; 606548; gene.
DR neXtProt; NX_Q9H2W1; -.
DR NIAGADS; ENSG00000110077; -.
DR OpenTargets; ENSG00000110077; -.
DR PharmGKB; PA31119; -.
DR VEuPathDB; HostDB:ENSG00000110077; -.
DR eggNOG; ENOG502SUQB; Eukaryota.
DR GeneTree; ENSGT00940000163439; -.
DR HOGENOM; CLU_089673_1_0_1; -.
DR InParanoid; Q9H2W1; -.
DR PhylomeDB; Q9H2W1; -.
DR TreeFam; TF335157; -.
DR PathwayCommons; Q9H2W1; -.
DR SignaLink; Q9H2W1; -.
DR BioGRID-ORCS; 64231; 19 hits in 1073 CRISPR screens.
DR ChiTaRS; MS4A6A; human.
DR GenomeRNAi; 64231; -.
DR Pharos; Q9H2W1; Tbio.
DR PRO; PR:Q9H2W1; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9H2W1; protein.
DR Bgee; ENSG00000110077; Expressed in monocyte and 183 other tissues.
DR ExpressionAtlas; Q9H2W1; baseline and differential.
DR Genevisible; Q9H2W1; 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:0005802; C:trans-Golgi network; IDA:ARUK-UCL.
DR GO; GO:0007166; P:cell surface receptor signaling pathway; IBA:GO_Central.
DR InterPro; IPR007237; CD20-like.
DR InterPro; IPR030417; MS4A.
DR InterPro; IPR030427; MS4A6A-E.
DR PANTHER; PTHR23320; PTHR23320; 1.
DR PANTHER; PTHR23320:SF135; PTHR23320:SF135; 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..248
FT /note="Membrane-spanning 4-domains subfamily A member 6A"
FT /id="PRO_0000158638"
FT TOPO_DOM 1..46
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 47..67
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 68..84
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 85..105
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 106..116
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 117..137
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 138..185
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 186..206
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 207..248
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1
FT /note="M -> MVLLKLLEVYRKGSAGTFHKSTIFGNTIM (in isoform 5)"
FT /evidence="ECO:0000305"
FT /id="VSP_056732"
FT VAR_SEQ 95..141
FT /note="FIISGSLSIATEKRLTKLLVHSSLVGSILSALSALVGFIILSVKQAT -> V
FT SRVSEEGRMGQRGEEDANSLDFPPASLLCLICQEQGVNGESCSPVG (in isoform
FT 4)"
FT /evidence="ECO:0000303|Ref.7"
FT /id="VSP_041191"
FT VAR_SEQ 142..248
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.7"
FT /id="VSP_041192"
FT VAR_SEQ 149..178
FT /note="CELDKNNIPTRSYVSYFYHDSLYTTDCYTA -> WNSLSDADLHSAGILPSC
FT AHCCAAVETGLL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11245982"
FT /id="VSP_007383"
FT VAR_SEQ 179..248
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11245982"
FT /id="VSP_007384"
FT VAR_SEQ 218..225
FT /note="SVLFLPHS -> VSVLAGFT (in isoform 2 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:11486273, ECO:0000303|Ref.4,
FT ECO:0000303|Ref.6"
FT /id="VSP_007381"
FT VAR_SEQ 226..248
FT /note="Missing (in isoform 2 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:11486273, ECO:0000303|Ref.4,
FT ECO:0000303|Ref.6"
FT /id="VSP_007382"
FT VARIANT 183
FT /note="A -> S (in dbSNP:rs1440597159)"
FT /evidence="ECO:0000269|PubMed:11401424"
FT /id="VAR_015652"
FT VARIANT 185
FT /note="T -> S (in dbSNP:rs7232)"
FT /evidence="ECO:0000269|PubMed:11401424"
FT /id="VAR_015653"
FT CONFLICT 107
FT /note="K -> R (in Ref. 6; AAL56222/AAL56223)"
FT /evidence="ECO:0000305"
FT CONFLICT 110
FT /note="T -> S (in Ref. 6; AAL56222/AAL56223)"
FT /evidence="ECO:0000305"
FT CONFLICT 225
FT /note="S -> R (in Ref. 6; AAL56222)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 248 AA; 26943 MW; 49892BC25D220A23 CRC64;
MTSQPVPNET IIVLPSNVIN FSQAEKPEPT NQGQDSLKKH LHAEIKVIGT IQILCGMMVL
SLGIILASAS FSPNFTQVTS TLLNSAYPFI GPFFFIISGS LSIATEKRLT KLLVHSSLVG
SILSALSALV GFIILSVKQA TLNPASLQCE LDKNNIPTRS YVSYFYHDSL YTTDCYTAKA
SLAGTLSLML ICTLLEFCLA VLTAVLRWKQ AYSDFPGSVL FLPHSYIGNS GMSSKMTHDC
GYEELLTS
