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Q96JQ5

- M4A4A_HUMAN

UniProt

Q96JQ5 - M4A4A_HUMAN

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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

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
Complete GO annotation...

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

BgeeiQ96JQ5.
CleanExiHS_MS4A4A.
ExpressionAtlasiQ96JQ5. baseline and differential.
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.
GeneTreeiENSGT00730000110654.
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

        10         20         30         40         50
MHQTYSRHCR PEESTFSAAM TTMQGMEQAM PGAGPGVPQL GNMAVIHSHL
60 70 80 90 100
WKGLQEKFLK GEPKVLGVVQ ILTALMSLSM GITMMCMASN TYGSNPISVY
110 120 130 140 150
IGYTIWGSVM FIISGSLSIA AGIRTTKGLV RGSLGMNITS SVLAASGILI
160 170 180 190 200
NTFSLAFYSF HHPYCNYYGN SNNCHGTMSI LMGLDGMVLL LSVLEFCIAV
210 220 230
SLSAFGCKVL CCTPGGVVLI LPSHSHMAET ASPTPLNEV
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.
GeneTreei ENSGT00730000110654.
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

Bgeei Q96JQ5.
CleanExi HS_MS4A4A.
ExpressionAtlasi Q96JQ5. baseline and differential.
Genevestigatori Q96JQ5.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 105 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