M4A4A_HUMAN
ID M4A4A_HUMAN Reviewed; 239 AA.
AC Q96JQ5; Q8TEZ6; Q96PG7; Q9BY18; Q9H3V3; Q9P1S3;
DT 09-MAY-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=Membrane-spanning 4-domains subfamily A member 4A;
DE AltName: Full=CD20 antigen-like 1;
DE AltName: Full=Four-span transmembrane protein 1;
GN Name=MS4A4A; Synonyms=4SPAN1, CD20L1, MS4A4; ORFNames=HDCME31P;
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 1).
RC TISSUE=Blood;
RA Fujii Y., Takayama K.;
RT "Characterization of a Fc epsilon receptor beta subunit homolog lacking
RT ITAM motif.";
RL Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 10-239 (ISOFORM 1).
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 [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 14-239 (ISOFORM 1).
RC TISSUE=Placenta;
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 [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 14-239 (ISOFORM 1).
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 14-239 (ISOFORM 1).
RC TISSUE=Dendritic cell;
RA Zhao Z., Huang X., Li N., Zhu X., Cao X.;
RT "A novel gene from human dendritic cell.";
RL Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 15-186 (ISOFORM 2).
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
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 Q96JQ5; O15342: ATP6V0E1; NbExp=3; IntAct=EBI-12820341, EBI-12935759;
CC Q96JQ5; Q8N6F1-2: CLDN19; NbExp=3; IntAct=EBI-12820341, EBI-12256978;
CC Q96JQ5; Q96FZ5: CMTM7; NbExp=3; IntAct=EBI-12820341, EBI-2807956;
CC Q96JQ5; P55060: CSE1L; NbExp=2; IntAct=EBI-12820341, EBI-286709;
CC Q96JQ5; Q9UBY5: LPAR3; NbExp=3; IntAct=EBI-12820341, EBI-12033434;
CC Q96JQ5; P21145: MAL; NbExp=3; IntAct=EBI-12820341, EBI-3932027;
CC Q96JQ5; Q02297-10: NRG1; NbExp=3; IntAct=EBI-12820341, EBI-12842334;
CC Q96JQ5; P60201-2: PLP1; NbExp=5; IntAct=EBI-12820341, EBI-12188331;
CC Q96JQ5; Q9NS64: RPRM; NbExp=4; IntAct=EBI-12820341, EBI-1052363;
CC Q96JQ5; Q96GQ5: RUSF1; NbExp=3; IntAct=EBI-12820341, EBI-8636004;
CC Q96JQ5; Q96IW7: SEC22A; NbExp=5; IntAct=EBI-12820341, EBI-8652744;
CC Q96JQ5; A2A2V5: SERTM1; NbExp=3; IntAct=EBI-12820341, EBI-17284533;
CC Q96JQ5; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-12820341, EBI-8638294;
CC Q96JQ5; Q71RG4: TMUB2; NbExp=3; IntAct=EBI-12820341, EBI-2820477;
CC Q96JQ5; O75841: UPK1B; NbExp=3; IntAct=EBI-12820341, EBI-12237619;
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96JQ5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96JQ5-2; Sequence=VSP_007380;
CC -!- TISSUE SPECIFICITY: Variable expression in multiple hemopoietic cell
CC lines.
CC -!- SIMILARITY: Belongs to the MS4A family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF65507.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAK37594.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAL08486.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAL56220.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAB18738.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AB022821; BAB61018.1; -; mRNA.
DR EMBL; AB013102; BAB18738.1; ALT_FRAME; mRNA.
DR EMBL; AF237912; AAK37594.1; ALT_INIT; mRNA.
DR EMBL; AF350500; AAL56220.1; ALT_INIT; mRNA.
DR EMBL; AF068288; AAF65507.1; ALT_FRAME; mRNA.
DR EMBL; AF354928; AAL08486.1; ALT_INIT; mRNA.
DR EMBL; BC020648; AAH20648.1; -; mRNA.
DR CCDS; CCDS58135.1; -. [Q96JQ5-2]
DR CCDS; CCDS7982.1; -. [Q96JQ5-1]
DR RefSeq; NP_001230195.1; NM_001243266.1. [Q96JQ5-2]
DR RefSeq; NP_076926.2; NM_024021.3.
DR RefSeq; NP_683876.1; NM_148975.2. [Q96JQ5-1]
DR RefSeq; XP_016873398.1; XM_017017909.1.
DR AlphaFoldDB; Q96JQ5; -.
DR SMR; Q96JQ5; -.
DR BioGRID; 119485; 53.
DR IntAct; Q96JQ5; 41.
DR STRING; 9606.ENSP00000338648; -.
DR BioMuta; MS4A4A; -.
DR DMDM; 30580442; -.
DR MassIVE; Q96JQ5; -.
DR PaxDb; Q96JQ5; -.
DR PeptideAtlas; Q96JQ5; -.
DR PRIDE; Q96JQ5; -.
DR Antibodypedia; 27893; 181 antibodies from 24 providers.
DR DNASU; 51338; -.
DR Ensembl; ENST00000337908.5; ENSP00000338648.4; ENSG00000110079.19. [Q96JQ5-1]
DR Ensembl; ENST00000532114.6; ENSP00000434506.1; ENSG00000110079.19. [Q96JQ5-2]
DR GeneID; 51338; -.
DR KEGG; hsa:51338; -.
DR MANE-Select; ENST00000337908.5; ENSP00000338648.4; NM_148975.3; NP_683876.1.
DR UCSC; uc001noz.4; human. [Q96JQ5-1]
DR CTD; 51338; -.
DR DisGeNET; 51338; -.
DR GeneCards; MS4A4A; -.
DR HGNC; HGNC:13371; MS4A4A.
DR HPA; ENSG00000110079; Tissue enhanced (placenta).
DR MIM; 606547; gene.
DR neXtProt; NX_Q96JQ5; -.
DR NIAGADS; ENSG00000110079; -.
DR OpenTargets; ENSG00000110079; -.
DR PharmGKB; PA31113; -.
DR VEuPathDB; HostDB:ENSG00000110079; -.
DR eggNOG; ENOG502S3XD; Eukaryota.
DR GeneTree; ENSGT00940000155376; -.
DR HOGENOM; CLU_091032_3_1_1; -.
DR InParanoid; Q96JQ5; -.
DR OMA; SENCFMS; -.
DR OrthoDB; 1178983at2759; -.
DR PhylomeDB; Q96JQ5; -.
DR TreeFam; TF335157; -.
DR PathwayCommons; Q96JQ5; -.
DR SignaLink; Q96JQ5; -.
DR BioGRID-ORCS; 51338; 16 hits in 1075 CRISPR screens.
DR GenomeRNAi; 51338; -.
DR Pharos; Q96JQ5; Tbio.
DR PRO; PR:Q96JQ5; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q96JQ5; protein.
DR Bgee; ENSG00000110079; Expressed in gall bladder and 149 other tissues.
DR ExpressionAtlas; Q96JQ5; baseline and differential.
DR Genevisible; Q96JQ5; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:ARUK-UCL.
DR GO; GO:0005794; C:Golgi apparatus; IDA:ARUK-UCL.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IDA:ARUK-UCL.
DR GO; GO:0044853; C:plasma membrane raft; IDA:ARUK-UCL.
DR InterPro; IPR007237; CD20-like.
DR InterPro; IPR030417; MS4A.
DR InterPro; IPR030425; MS4A_4A.
DR PANTHER; PTHR23320; PTHR23320; 1.
DR PANTHER; PTHR23320:SF141; PTHR23320:SF141; 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..239
FT /note="Membrane-spanning 4-domains subfamily A member 4A"
FT /id="PRO_0000158634"
FT TOPO_DOM 1..64
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 65..85
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 86..98
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 99..119
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 120..137
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 138..158
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 159..179
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 180..200
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 201..239
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT VAR_SEQ 130..182
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11486273"
FT /id="VSP_007380"
FT VARIANT 52
FT /note="K -> E (in dbSNP:rs10750931)"
FT /id="VAR_053517"
FT VARIANT 178
FT /note="M -> V (in dbSNP:rs6591561)"
FT /id="VAR_024540"
FT VARIANT 191
FT /note="L -> I (in dbSNP:rs4644658)"
FT /id="VAR_062123"
FT CONFLICT 26
FT /note="M -> I (in Ref. 2)"
FT /evidence="ECO:0000305"
FT CONFLICT 100
FT /note="Y -> H (in Ref. 5; AAF65507)"
FT /evidence="ECO:0000305"
FT CONFLICT 200
FT /note="V -> C (in Ref. 4; AAL56220)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 239 AA; 25441 MW; F0617D94669CB447 CRC64;
MHQTYSRHCR PEESTFSAAM TTMQGMEQAM PGAGPGVPQL GNMAVIHSHL WKGLQEKFLK
GEPKVLGVVQ ILTALMSLSM GITMMCMASN TYGSNPISVY IGYTIWGSVM FIISGSLSIA
AGIRTTKGLV RGSLGMNITS SVLAASGILI NTFSLAFYSF HHPYCNYYGN SNNCHGTMSI
LMGLDGMVLL LSVLEFCIAV SLSAFGCKVL CCTPGGVVLI LPSHSHMAET ASPTPLNEV
