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Q96JQ5

- M4A4A_HUMAN

UniProt

Q96JQ5 - M4A4A_HUMAN

Protein

Membrane-spanning 4-domains subfamily A member 4A

Gene

MS4A4A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    May be involved in signal transduction as a component of a multimeric receptor complex.

    Keywords - Molecular functioni

    Receptor

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Membrane-spanning 4-domains subfamily A member 4A
    Alternative name(s):
    CD20 antigen-like 1
    Four-span transmembrane protein 1
    Gene namesi
    Name:MS4A4A
    Synonyms:4SPAN1, CD20L1, MS4A4
    ORF Names:HDCME31P
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:13371. MS4A4A.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA31113.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 239239Membrane-spanning 4-domains subfamily A member 4APRO_0000158634Add
    BLAST

    Proteomic databases

    PRIDEiQ96JQ5.

    Expressioni

    Tissue specificityi

    Variable expression in multiple hemopoietic cell lines.

    Gene expression databases

    ArrayExpressiQ96JQ5.
    BgeeiQ96JQ5.
    CleanExiHS_MS4A4A.
    GenevestigatoriQ96JQ5.

    Organism-specific databases

    HPAiHPA029323.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000338648.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96JQ5.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 6464CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini86 – 9813ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini120 – 13718CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini159 – 17921ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini201 – 23939CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei65 – 8521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei99 – 11921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei138 – 15821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei180 – 20021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the MS4A family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG41861.
    HOGENOMiHOG000113440.
    HOVERGENiHBG054370.
    InParanoidiQ96JQ5.
    OMAiYSFHHPY.
    OrthoDBiEOG7VHSZF.
    PhylomeDBiQ96JQ5.
    TreeFamiTF335157.

    Family and domain databases

    InterProiIPR007237. CD20-like.
    [Graphical view]
    PfamiPF04103. CD20. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96JQ5-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MHQTYSRHCR PEESTFSAAM TTMQGMEQAM PGAGPGVPQL GNMAVIHSHL    50
    WKGLQEKFLK GEPKVLGVVQ ILTALMSLSM GITMMCMASN TYGSNPISVY 100
    IGYTIWGSVM FIISGSLSIA AGIRTTKGLV RGSLGMNITS SVLAASGILI 150
    NTFSLAFYSF HHPYCNYYGN SNNCHGTMSI LMGLDGMVLL LSVLEFCIAV 200
    SLSAFGCKVL CCTPGGVVLI LPSHSHMAET ASPTPLNEV 239
    Length:239
    Mass (Da):25,441
    Last modified:December 1, 2001 - v1
    Checksum:iF0617D94669CB447
    GO
    Isoform 2 (identifier: Q96JQ5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         130-182: Missing.

    Show »
    Length:186
    Mass (Da):19,682
    Checksum:i14A89883D4417D17
    GO

    Sequence cautioni

    The sequence AAF65507.1 differs from that shown. Reason: Frameshift at position 33.
    The sequence BAB18738.1 differs from that shown. Reason: Frameshift at position 34.
    The sequence AAK37594.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAL08486.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAL56220.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti26 – 261M → I(PubMed:11245982)Curated
    Sequence conflicti100 – 1001Y → H in AAF65507. 1 PublicationCurated
    Sequence conflicti200 – 2001V → C in AAL56220. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti52 – 521K → E.
    Corresponds to variant rs10750931 [ dbSNP | Ensembl ].
    VAR_053517
    Natural varianti178 – 1781M → V.
    Corresponds to variant rs6591561 [ dbSNP | Ensembl ].
    VAR_024540
    Natural varianti191 – 1911L → I.
    Corresponds to variant rs4644658 [ dbSNP | Ensembl ].
    VAR_062123

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei130 – 18253Missing in isoform 2. 1 PublicationVSP_007380Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB022821 mRNA. Translation: BAB61018.1.
    AB013102 mRNA. Translation: BAB18738.1. Frameshift.
    AF237912 mRNA. Translation: AAK37594.1. Different initiation.
    AF350500 mRNA. Translation: AAL56220.1. Different initiation.
    AF068288 mRNA. Translation: AAF65507.1. Frameshift.
    AF354928 mRNA. Translation: AAL08486.1. Different initiation.
    BC020648 mRNA. Translation: AAH20648.1.
    CCDSiCCDS58135.1. [Q96JQ5-2]
    CCDS7982.1. [Q96JQ5-1]
    RefSeqiNP_001230195.1. NM_001243266.1. [Q96JQ5-2]
    NP_076926.2. NM_024021.3.
    NP_683876.1. NM_148975.2. [Q96JQ5-1]
    UniGeneiHs.325960.

    Genome annotation databases

    EnsembliENST00000337908; ENSP00000338648; ENSG00000110079. [Q96JQ5-1]
    ENST00000532114; ENSP00000434506; ENSG00000110079. [Q96JQ5-2]
    GeneIDi51338.
    KEGGihsa:51338.
    UCSCiuc001noz.3. human. [Q96JQ5-1]
    uc001npc.3. human. [Q96JQ5-2]

    Polymorphism databases

    DMDMi30580442.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB022821 mRNA. Translation: BAB61018.1 .
    AB013102 mRNA. Translation: BAB18738.1 . Frameshift.
    AF237912 mRNA. Translation: AAK37594.1 . Different initiation.
    AF350500 mRNA. Translation: AAL56220.1 . Different initiation.
    AF068288 mRNA. Translation: AAF65507.1 . Frameshift.
    AF354928 mRNA. Translation: AAL08486.1 . Different initiation.
    BC020648 mRNA. Translation: AAH20648.1 .
    CCDSi CCDS58135.1. [Q96JQ5-2 ]
    CCDS7982.1. [Q96JQ5-1 ]
    RefSeqi NP_001230195.1. NM_001243266.1. [Q96JQ5-2 ]
    NP_076926.2. NM_024021.3.
    NP_683876.1. NM_148975.2. [Q96JQ5-1 ]
    UniGenei Hs.325960.

    3D structure databases

    ProteinModelPortali Q96JQ5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000338648.

    Polymorphism databases

    DMDMi 30580442.

    Proteomic databases

    PRIDEi Q96JQ5.

    Protocols and materials databases

    DNASUi 51338.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000337908 ; ENSP00000338648 ; ENSG00000110079 . [Q96JQ5-1 ]
    ENST00000532114 ; ENSP00000434506 ; ENSG00000110079 . [Q96JQ5-2 ]
    GeneIDi 51338.
    KEGGi hsa:51338.
    UCSCi uc001noz.3. human. [Q96JQ5-1 ]
    uc001npc.3. human. [Q96JQ5-2 ]

    Organism-specific databases

    CTDi 51338.
    GeneCardsi GC11P060048.
    H-InvDB HIX0058934.
    HGNCi HGNC:13371. MS4A4A.
    HPAi HPA029323.
    MIMi 606547. gene.
    neXtProti NX_Q96JQ5.
    PharmGKBi PA31113.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41861.
    HOGENOMi HOG000113440.
    HOVERGENi HBG054370.
    InParanoidi Q96JQ5.
    OMAi YSFHHPY.
    OrthoDBi EOG7VHSZF.
    PhylomeDBi Q96JQ5.
    TreeFami TF335157.

    Miscellaneous databases

    GenomeRNAii 51338.
    NextBioi 54770.
    PROi Q96JQ5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96JQ5.
    Bgeei Q96JQ5.
    CleanExi HS_MS4A4A.
    Genevestigatori Q96JQ5.

    Family and domain databases

    InterProi IPR007237. CD20-like.
    [Graphical view ]
    Pfami PF04103. CD20. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of a Fc epsilon receptor beta subunit homolog lacking ITAM motif."
      Fujii Y., Takayama K.
      Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Blood.
    2. "Identification of a new multigene four-transmembrane family (MS4A) related to CD20, HTm4 and beta subunit of the high-affinity IgE receptor."
      Ishibashi K., Suzuki M., Sasaki S., Imai M.
      Gene 264:87-93(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 10-239 (ISOFORM 1).
    3. "Identification of a CD20-, Fc-epsilon-RI-beta-, and HTm4-related gene family: sixteen new MS4A family members expressed in human and mouse."
      Liang Y., Tedder T.F.
      Genomics 72:119-127(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 14-239 (ISOFORM 1).
      Tissue: Placenta.
    4. "Isolation of a family of hematopoietic-expressed four-transmembrane genes related to CD20 and Fc-epsilon-RI-beta."
      Hulett M.D., Pagler E., Hogarth P.M., Eyre H.J., Baker E., Crawford J., Sutherland G.R., Parish C.R.
      Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 14-239 (ISOFORM 1).
    5. "A novel gene from human dendritic cell."
      Zhao Z., Huang X., Li N., Zhu X., Cao X.
      Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 14-239 (ISOFORM 1).
      Tissue: Dendritic cell.
    6. "Structural organization of the human MS4A gene cluster on chromosome 11q12."
      Liang Y., Buckley T.R., Tu L., Langdon S.D., Tedder T.F.
      Immunogenetics 53:357-368(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 15-186 (ISOFORM 2).
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Placenta.

    Entry informationi

    Entry nameiM4A4A_HUMAN
    AccessioniPrimary (citable) accession number: Q96JQ5
    Secondary accession number(s): Q8TEZ6
    , Q96PG7, Q9BY18, Q9H3V3, Q9P1S3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 9, 2003
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 104 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3