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Q96JQ5 (M4A4A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 101. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Membrane-spanning 4-domains subfamily A member 4A
Alternative name(s):
CD20 antigen-like 1
Four-span transmembrane protein 1
Gene names
Name:MS4A4A
Synonyms:4SPAN1, CD20L1, MS4A4
ORF Names:HDCME31P
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length239 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

Variable expression in multiple hemopoietic cell lines.

Sequence similarities

Belongs to the MS4A family.

Sequence caution

The sequence AAF65507.1 differs from that shown. Reason: Frameshift at position 33.

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.

The sequence BAB18738.1 differs from that shown. Reason: Frameshift at position 34.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Molecular functionReceptor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96JQ5-1)

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.
Isoform 2 (identifier: Q96JQ5-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 239239Membrane-spanning 4-domains subfamily A member 4A
PRO_0000158634

Regions

Topological domain1 – 6464Cytoplasmic Potential
Transmembrane65 – 8521Helical; Potential
Topological domain86 – 9813Extracellular Potential
Transmembrane99 – 11921Helical; Potential
Topological domain120 – 13718Cytoplasmic Potential
Transmembrane138 – 15821Helical; Potential
Topological domain159 – 17921Extracellular Potential
Transmembrane180 – 20021Helical; Potential
Topological domain201 – 23939Cytoplasmic Potential

Natural variations

Alternative sequence130 – 18253Missing in isoform 2.
VSP_007380
Natural variant521K → E.
Corresponds to variant rs10750931 [ dbSNP | Ensembl ].
VAR_053517
Natural variant1781M → V.
Corresponds to variant rs6591561 [ dbSNP | Ensembl ].
VAR_024540
Natural variant1911L → I.
Corresponds to variant rs4644658 [ dbSNP | Ensembl ].
VAR_062123

Experimental info

Sequence conflict261M → I Ref.2
Sequence conflict1001Y → H in AAF65507. Ref.5
Sequence conflict2001V → C in AAL56220. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: F0617D94669CB447

FASTA23925,441
        10         20         30         40         50         60 
MHQTYSRHCR PEESTFSAAM TTMQGMEQAM PGAGPGVPQL GNMAVIHSHL WKGLQEKFLK 

        70         80         90        100        110        120 
GEPKVLGVVQ ILTALMSLSM GITMMCMASN TYGSNPISVY IGYTIWGSVM FIISGSLSIA 

       130        140        150        160        170        180 
AGIRTTKGLV RGSLGMNITS SVLAASGILI NTFSLAFYSF HHPYCNYYGN SNNCHGTMSI 

       190        200        210        220        230 
LMGLDGMVLL LSVLEFCIAV SLSAFGCKVL CCTPGGVVLI LPSHSHMAET ASPTPLNEV 

« Hide

Isoform 2 [UniParc].

Checksum: 14A89883D4417D17
Show »

FASTA18619,682

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001230195.1. NM_001243266.1.
NP_076926.2. NM_024021.3.
NP_683876.1. NM_148975.2.
UniGeneHs.325960.

3D structure databases

ProteinModelPortalQ96JQ5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000338648.

Polymorphism databases

DMDM30580442.

Proteomic databases

PRIDEQ96JQ5.

Protocols and materials databases

DNASU51338.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000337908; ENSP00000338648; ENSG00000110079. [Q96JQ5-1]
ENST00000355131; ENSP00000347252; ENSG00000110079.
ENST00000395016; ENSP00000378462; ENSG00000110079.
ENST00000532114; ENSP00000434506; ENSG00000110079. [Q96JQ5-2]
GeneID51338.
KEGGhsa:51338.
UCSCuc001noz.3. human. [Q96JQ5-1]
uc001npc.3. human. [Q96JQ5-2]

Organism-specific databases

CTD51338.
GeneCardsGC11P060048.
H-InvDBHIX0058934.
HGNCHGNC:13371. MS4A4A.
HPAHPA029323.
MIM606547. gene.
neXtProtNX_Q96JQ5.
PharmGKBPA31113.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41861.
HOGENOMHOG000113440.
HOVERGENHBG054370.
InParanoidQ96JQ5.
OMAYIGYTIW.
OrthoDBEOG7VHSZF.
PhylomeDBQ96JQ5.
TreeFamTF335157.

Gene expression databases

ArrayExpressQ96JQ5.
BgeeQ96JQ5.
CleanExHS_MS4A4A.
GenevestigatorQ96JQ5.

Family and domain databases

InterProIPR007237. CD20-like.
[Graphical view]
PfamPF04103. CD20. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi51338.
NextBio54770.
PROQ96JQ5.
SOURCESearch...

Entry information

Entry nameM4A4A_HUMAN
AccessionPrimary (citable) accession number: Q96JQ5
Secondary accession number(s): Q8TEZ6 expand/collapse secondary AC list , Q96PG7, Q9BY18, Q9H3V3, Q9P1S3
Entry history
Integrated into UniProtKB/Swiss-Prot: May 9, 2003
Last sequence update: December 1, 2001
Last modified: March 19, 2014
This is version 101 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM