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Protein

Membrane-spanning 4-domains subfamily A member 4A

Gene

MS4A4A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:13371. MS4A4A.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 64CytoplasmicSequence analysisAdd BLAST64
Transmembranei65 – 85HelicalSequence analysisAdd BLAST21
Topological domaini86 – 98ExtracellularSequence analysisAdd BLAST13
Transmembranei99 – 119HelicalSequence analysisAdd BLAST21
Topological domaini120 – 137CytoplasmicSequence analysisAdd BLAST18
Transmembranei138 – 158HelicalSequence analysisAdd BLAST21
Topological domaini159 – 179ExtracellularSequence analysisAdd BLAST21
Transmembranei180 – 200HelicalSequence analysisAdd BLAST21
Topological domaini201 – 239CytoplasmicSequence analysisAdd BLAST39

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi51338.
OpenTargetsiENSG00000110079.
PharmGKBiPA31113.

Polymorphism and mutation databases

BioMutaiMS4A4A.
DMDMi30580442.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001586341 – 239Membrane-spanning 4-domains subfamily A member 4AAdd BLAST239

Proteomic databases

PaxDbiQ96JQ5.
PeptideAtlasiQ96JQ5.
PRIDEiQ96JQ5.

Expressioni

Tissue specificityi

Variable expression in multiple hemopoietic cell lines.

Gene expression databases

BgeeiENSG00000110079.
CleanExiHS_MS4A4A.
ExpressionAtlasiQ96JQ5. baseline and differential.
GenevisibleiQ96JQ5. HS.

Organism-specific databases

HPAiHPA029323.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000338648.

Structurei

3D structure databases

ProteinModelPortaliQ96JQ5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the MS4A family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410J084. Eukaryota.
ENOG4112CBR. LUCA.
GeneTreeiENSGT00730000110654.
HOGENOMiHOG000113440.
HOVERGENiHBG054370.
InParanoidiQ96JQ5.
OMAiYIGYTIW.
OrthoDBiEOG091G0IBB.
PhylomeDBiQ96JQ5.
TreeFamiTF335157.

Family and domain databases

InterProiIPR007237. CD20-like.
IPR030417. MS4A.
IPR030425. MS4A4A.
[Graphical view]
PANTHERiPTHR23320. PTHR23320. 1 hit.
PTHR23320:SF59. PTHR23320:SF59. 1 hit.
PfamiPF04103. CD20. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti26M → I (PubMed:11245982).Curated1
Sequence conflicti100Y → H in AAF65507 (Ref. 5) Curated1
Sequence conflicti200V → C in AAL56220 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05351752K → E.Corresponds to variant rs10750931dbSNPEnsembl.1
Natural variantiVAR_024540178M → V.Corresponds to variant rs6591561dbSNPEnsembl.1
Natural variantiVAR_062123191L → I.Corresponds to variant rs4644658dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_007380130 – 182Missing in isoform 2. 1 PublicationAdd BLAST53

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
XP_016873398.1. XM_017017909.1.
UniGeneiHs.325960.

Genome annotation databases

EnsembliENST00000337908; ENSP00000338648; ENSG00000110079. [Q96JQ5-1]
ENST00000532114; ENSP00000434506; ENSG00000110079. [Q96JQ5-2]
GeneIDi51338.
KEGGihsa:51338.
UCSCiuc001noz.4. human. [Q96JQ5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
XP_016873398.1. XM_017017909.1.
UniGeneiHs.325960.

3D structure databases

ProteinModelPortaliQ96JQ5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000338648.

Polymorphism and mutation databases

BioMutaiMS4A4A.
DMDMi30580442.

Proteomic databases

PaxDbiQ96JQ5.
PeptideAtlasiQ96JQ5.
PRIDEiQ96JQ5.

Protocols and materials databases

DNASUi51338.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000337908; ENSP00000338648; ENSG00000110079. [Q96JQ5-1]
ENST00000532114; ENSP00000434506; ENSG00000110079. [Q96JQ5-2]
GeneIDi51338.
KEGGihsa:51338.
UCSCiuc001noz.4. human. [Q96JQ5-1]

Organism-specific databases

CTDi51338.
DisGeNETi51338.
GeneCardsiMS4A4A.
H-InvDBHIX0058934.
HGNCiHGNC:13371. MS4A4A.
HPAiHPA029323.
MIMi606547. gene.
neXtProtiNX_Q96JQ5.
OpenTargetsiENSG00000110079.
PharmGKBiPA31113.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J084. Eukaryota.
ENOG4112CBR. LUCA.
GeneTreeiENSGT00730000110654.
HOGENOMiHOG000113440.
HOVERGENiHBG054370.
InParanoidiQ96JQ5.
OMAiYIGYTIW.
OrthoDBiEOG091G0IBB.
PhylomeDBiQ96JQ5.
TreeFamiTF335157.

Miscellaneous databases

GenomeRNAii51338.
PROiQ96JQ5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000110079.
CleanExiHS_MS4A4A.
ExpressionAtlasiQ96JQ5. baseline and differential.
GenevisibleiQ96JQ5. HS.

Family and domain databases

InterProiIPR007237. CD20-like.
IPR030417. MS4A.
IPR030425. MS4A4A.
[Graphical view]
PANTHERiPTHR23320. PTHR23320. 1 hit.
PTHR23320:SF59. PTHR23320:SF59. 1 hit.
PfamiPF04103. CD20. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 2, 2016
This is version 120 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.