Q96JQ5 (M4A4A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	239 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Molecular function	Receptor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 239	239	Membrane-spanning 4-domains subfamily A member 4A		PRO_0000158634
Regions
	Topological domain	1 – 64	64	Cytoplasmic Potential
	Transmembrane	65 – 85	21	Helical; Potential
	Topological domain	86 – 98	13	Extracellular Potential
	Transmembrane	99 – 119	21	Helical; Potential
	Topological domain	120 – 137	18	Cytoplasmic Potential
	Transmembrane	138 – 158	21	Helical; Potential
	Topological domain	159 – 179	21	Extracellular Potential
	Transmembrane	180 – 200	21	Helical; Potential
	Topological domain	201 – 239	39	Cytoplasmic Potential
Natural variations
	Alternative sequence	130 – 182	53	Missing in isoform 2.		VSP_007380
	Natural variant	52	1	K → E. Corresponds to variant rs10750931 [ dbSNP | Ensembl ].		VAR_053517
	Natural variant	178	1	M → V. Corresponds to variant rs6591561 [ dbSNP | Ensembl ].		VAR_024540
	Natural variant	191	1	L → I. Corresponds to variant rs4644658 [ dbSNP | Ensembl ].		VAR_062123
Experimental info
	Sequence conflict	26	1	M → I Ref.2
	Sequence conflict	100	1	Y → H in AAF65507. Ref.5
	Sequence conflict	200	1	V → C in AAL56220. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: F0617D94669CB447	FASTA	239	25,441
	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
	Isoform 2 [UniParc]. Checksum: 14A89883D4417D17	FASTA	186	19,682
	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 AGIRTTKGLG LDGMVLLLSV LEFCIAVSLS AFGCKVLCCT PGGVVLILPS HSHMAETASP TPLNEV

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00096647. IPI00292233.
RefSeq	NP_001230195.1. NM_001243266.1. NP_076926.2. NM_024021.3. NP_683876.1. NM_148975.2.
UniGene	Hs.325960.
3D structure databases
ProteinModelPortal	Q96JQ5.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000338648.
Polymorphism databases
DMDM	30580442.
Proteomic databases
PRIDE	Q96JQ5.
Protocols and materials databases
DNASU	51338.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000337908; ENSP00000338648; ENSG00000110079. ENST00000355131; ENSP00000347252; ENSG00000110079. ENST00000395016; ENSP00000378462; ENSG00000110079. ENST00000532114; ENSP00000434506; ENSG00000110079.
GeneID	51338.
KEGG	hsa:51338.
UCSC	uc001noz.3. human. uc001npc.3. human.
Organism-specific databases
CTD	51338.
GeneCards	GC11P060048.
H-InvDB	HIX0058934.
HGNC	HGNC:13371. MS4A4A.
HPA	HPA029323.
MIM	606547. gene.
neXtProt	NX_Q96JQ5.
PharmGKB	PA31113.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG41861.
HOGENOM	HOG000113440.
HOVERGEN	HBG054370.
InParanoid	Q96JQ5.
OMA	GMEQAMP.
OrthoDB	EOG4NS3CC.
PhylomeDB	Q96JQ5.
Gene expression databases
ArrayExpress	Q96JQ5.
Bgee	Q96JQ5.
CleanEx	HS_MS4A4A.
Genevestigator	Q96JQ5.
GermOnline	ENSG00000110079. Homo sapiens.
Family and domain databases
InterPro	IPR007237. CD20-like. [Graphical view]
Pfam	PF04103. CD20. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	51338.
NextBio	54770.
SOURCE	Search...

Entry information

Entry name

M4A4A_HUMAN

Accession

Primary (citable) accession number: Q96JQ5
Secondary accession number(s): Q8TEZ6 , Q96PG7, Q9BY18, Q9H3V3, Q9P1S3

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 9, 2003
Last sequence update:	December 1, 2001
Last modified:	April 3, 2013
This is version 95 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.