M4A14_HUMAN
ID M4A14_HUMAN Reviewed; 679 AA.
AC Q96JA4; E9PJE3; Q2TVT5; Q3B7W3; Q86XH8; Q9NTC2;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Membrane-spanning 4-domains subfamily A member 14;
DE AltName: Full=Testis development protein NYD-SP21;
GN Name=MS4A14; Synonyms=MS4A13, MS4A16;
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), AND VARIANTS TYR-177 AND ARG-584.
RC TISSUE=Testis;
RA Li J.M., Sha J.H., Zhou Z.M.;
RT "A new testis development gene NYD-SP21 from human testes.";
RL Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND VARIANTS TYR-177 AND
RP ARG-584.
RC TISSUE=Testis;
RA Liang Y., Tedder T.F.;
RT "MS4A genes.";
RL Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases.
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
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).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 191-679 (ISOFORMS 1/2), AND
RP VARIANT ARG-584.
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
CC -!- FUNCTION: May be involved in signal transduction as a component of a
CC multimeric receptor complex. {ECO:0000250}.
CC -!- INTERACTION:
CC Q96JA4; O14735: CDIPT; NbExp=3; IntAct=EBI-12839612, EBI-358858;
CC Q96JA4; Q8N6F1-2: CLDN19; NbExp=3; IntAct=EBI-12839612, EBI-12256978;
CC Q96JA4; Q96F15: GIMAP5; NbExp=3; IntAct=EBI-12839612, EBI-6166686;
CC Q96JA4; Q96IW7: SEC22A; NbExp=3; IntAct=EBI-12839612, EBI-8652744;
CC Q96JA4; Q969K7: TMEM54; NbExp=3; IntAct=EBI-12839612, EBI-3922833;
CC Q96JA4; Q8N661: TMEM86B; NbExp=3; IntAct=EBI-12839612, EBI-2548832;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q96JA4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96JA4-2; Sequence=VSP_031780;
CC Name=3;
CC IsoId=Q96JA4-4; Sequence=VSP_031779, VSP_031781, VSP_031782;
CC Name=4;
CC IsoId=Q96JA4-5; Sequence=VSP_056734;
CC -!- SIMILARITY: Belongs to the MS4A family. {ECO:0000305}.
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DR EMBL; AF367473; AAK53409.2; -; mRNA.
DR EMBL; AY094610; AAM48587.1; -; mRNA.
DR EMBL; AY094611; AAM48588.1; -; mRNA.
DR EMBL; AY584610; AAV91959.1; -; mRNA.
DR EMBL; AP003127; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC107431; AAI07432.1; -; mRNA.
DR EMBL; AL137391; CAB70719.1; -; mRNA.
DR CCDS; CCDS31569.1; -. [Q96JA4-1]
DR CCDS; CCDS41652.1; -. [Q96JA4-2]
DR CCDS; CCDS58136.1; -. [Q96JA4-5]
DR PIR; T46450; T46450.
DR RefSeq; NP_001073160.1; NM_001079692.2. [Q96JA4-2]
DR RefSeq; NP_001248757.1; NM_001261828.1. [Q96JA4-5]
DR RefSeq; NP_115986.3; NM_032597.4. [Q96JA4-1]
DR AlphaFoldDB; Q96JA4; -.
DR BioGRID; 124204; 6.
DR IntAct; Q96JA4; 6.
DR STRING; 9606.ENSP00000433761; -.
DR TCDB; 1.A.37.3.1; the cd20 ca(2+) channel (cd20) family.
DR GlyGen; Q96JA4; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96JA4; -.
DR PhosphoSitePlus; Q96JA4; -.
DR SwissPalm; Q96JA4; -.
DR BioMuta; MS4A14; -.
DR DMDM; 296434579; -.
DR PaxDb; Q96JA4; -.
DR PeptideAtlas; Q96JA4; -.
DR PRIDE; Q96JA4; -.
DR Antibodypedia; 43483; 93 antibodies from 16 providers.
DR DNASU; 84689; -.
DR Ensembl; ENST00000300187.11; ENSP00000300187.6; ENSG00000166928.11. [Q96JA4-1]
DR Ensembl; ENST00000395005.6; ENSP00000378453.2; ENSG00000166928.11. [Q96JA4-2]
DR Ensembl; ENST00000531783.5; ENSP00000433761.1; ENSG00000166928.11. [Q96JA4-5]
DR GeneID; 84689; -.
DR KEGG; hsa:84689; -.
DR MANE-Select; ENST00000300187.11; ENSP00000300187.6; NM_032597.5; NP_115986.3.
DR UCSC; uc001npj.4; human. [Q96JA4-1]
DR CTD; 84689; -.
DR DisGeNET; 84689; -.
DR GeneCards; MS4A14; -.
DR HGNC; HGNC:30706; MS4A14.
DR HPA; ENSG00000166928; Tissue enriched (testis).
DR neXtProt; NX_Q96JA4; -.
DR OpenTargets; ENSG00000166928; -.
DR PharmGKB; PA162396237; -.
DR VEuPathDB; HostDB:ENSG00000166928; -.
DR eggNOG; ENOG502S7I2; Eukaryota.
DR GeneTree; ENSGT00940000163132; -.
DR InParanoid; Q96JA4; -.
DR OMA; WRTQDWK; -.
DR OrthoDB; 969773at2759; -.
DR PhylomeDB; Q96JA4; -.
DR TreeFam; TF337098; -.
DR PathwayCommons; Q96JA4; -.
DR SignaLink; Q96JA4; -.
DR BioGRID-ORCS; 84689; 9 hits in 1062 CRISPR screens.
DR GenomeRNAi; 84689; -.
DR Pharos; Q96JA4; Tdark.
DR PRO; PR:Q96JA4; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q96JA4; protein.
DR Bgee; ENSG00000166928; Expressed in sperm and 106 other tissues.
DR ExpressionAtlas; Q96JA4; baseline and differential.
DR Genevisible; Q96JA4; 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 PANTHER; PTHR23320; PTHR23320; 2.
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..679
FT /note="Membrane-spanning 4-domains subfamily A member 14"
FT /id="PRO_0000320967"
FT TRANSMEM 50..70
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 76..96
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 110..130
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 141..161
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 218..259
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 331..363
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 469..491
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 505..633
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 519..537
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 548..576
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 585..601
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 615..630
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..112
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031779"
FT VAR_SEQ 90..106
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_031780"
FT VAR_SEQ 156
FT /note="I -> IGILLILLIISIAELSISVTIASFRSKCWTQSDE (in isoform
FT 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_056734"
FT VAR_SEQ 157..170
FT /note="VLFFLPSDVTQNSE -> DFILLTPPHSSHFL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031781"
FT VAR_SEQ 171..679
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031782"
FT VARIANT 177
FT /note="N -> Y (in dbSNP:rs7131283)"
FT /evidence="ECO:0000269|Ref.1, ECO:0000269|Ref.2"
FT /id="VAR_039330"
FT VARIANT 584
FT /note="G -> R (in dbSNP:rs3825020)"
FT /evidence="ECO:0000269|PubMed:17974005, ECO:0000269|Ref.1,
FT ECO:0000269|Ref.2"
FT /id="VAR_039331"
SQ SEQUENCE 679 AA; 76580 MW; BD523CE5C28E1207 CRC64;
MESTSQDRRA THVITIKPNE TVLTAFPYRP HSSLLDFLKG EPRVLGATQI LLALIIVGFG
TIFALNYIGF SQRLPLVVLT GYPFWGALIF ILTGYLTVTD KKSKLLGQGV TGMNVISSLV
AITGITFTIL SYRHQDKYCQ MPSFEEICVF SRTLFIVLFF LPSDVTQNSE QPAPEENDQL
QFVLQEEFSS DDSTTNAQSV IFGGYAFFKL TLSRSPLVSQ PGNKGREFVP DEQKQSILPS
PKFSEEEIEP LPPTLEKKPS ENMSIQLDST FKQMKDEDLQ SAIVQPSQMQ TKLLQDQAAS
LQVFPSHSAL KLEDISPEDL PSQALPVEGL SEQTMPSKST SSHVKQSSNL TANDLPPQGI
LSQDTSSQDM LFHDMTSQDM QSLDMLSQDT PSHAMPPQDI PSQDMLSQAL SAHAILPEAS
TSHIVQFPEI QHLLQQPPDL QPENTEPQNQ QILQMSYQDI RSEVMEETKE WKSEEELHRR
KSSRRHSLNQ QTKALQYLRR HSLDVQAKGQ KSSKRHSLDQ QSKGWQSPKQ KSLDQQIKDW
LSPKRHSVDK QAQLNQTKEQ LPDQQAEDQQ AKGEQYPEGQ SKDGQVKDQQ TDKEQNSKKQ
TQDQQTEDQP AQEKKSPKGQ FQNVQAEGQQ AQVEKVPKLL CQDSESQIQQ YQFWQFHKGN
LQAGQPRTVN LLAKNPLTG
