Reviewed, UniProtKB/Swiss-Prot P41732 (TSN7_HUMAN)

Names and origin

Protein names

Recommended name:
    Tetraspanin-7
      Short name=Tspan-7
Alternative name(s):
    Transmembrane 4 superfamily member 2
    Cell surface glycoprotein A15
    T-cell acute lymphoblastic leukemia-associated antigen 1
      Short name=TALLA-1
    Membrane component, X chromosome, surface marker 1
    CD_antigen=CD231

Gene names

Name:	TSPAN7
Synonyms:	A15, DXS1692E, MXS1, TM4SF2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	249 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May be involved in cell proliferation and cell motility.
Subcellular location	Membrane; Multi-pass membrane protein.
Tissue specificity	Not solely expressed in T-cells. Expressed in acute myelocytic leukemia cells of some patients.
Involvement in disease	Defects in TSPAN7 are the cause of non-syndromic mental retardation X-linked type 58 (MRX58) [MIM:300210]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.
Sequence similarities	Belongs to the tetraspanin (TM4SF) family.

Ontologies

Keywords
Cellular component	Membrane
Disease	Disease mutation Mental retardation
Domain	Transmembrane
PTM	Glycoprotein
Gene Ontology (GO)
Biological process	protein amino acid N-linked glycosylation Ref.1 Traceable author statement. Source: ProtInc
Cellular component	integral to plasma membrane Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 249	249	Tetraspanin-7		PRO_0000219248
Regions
	Topological domain	1 – 16	16	Cytoplasmic Potential
	Transmembrane	17 – 40	24	Potential
	Topological domain	41 – 56	16	Extracellular Potential
	Transmembrane	57 – 75	19	Potential
	Topological domain	76 – 86	11	Cytoplasmic Potential
	Transmembrane	87 – 112	26	Potential
	Topological domain	113 – 213	101	Extracellular Potential
	Transmembrane	214 – 234	21	Potential
	Topological domain	235 – 249	15	Cytoplasmic Potential
Amino acid modifications
	Glycosylation	54	1	N-linked (GlcNAc...) Potential
	Glycosylation	155	1	N-linked (GlcNAc...) Potential
	Glycosylation	158	1	N-linked (GlcNAc...) Potential
	Glycosylation	177	1	N-linked (GlcNAc...) Potential
	Glycosylation	188	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	53	1	E → K: dbSNP rs17851592.		VAR_037905
	Natural variant	127	1	A → T: dbSNP rs17851593.		VAR_037906
	Natural variant	172	1	P → H in MRX58.		VAR_009259
Experimental info
	Sequence conflict	136	1	E → K in CAB65594. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	P41732-1 [UniParc]. Last modified November 16, 2001. Version 2. Checksum: F2CF4517DB388173	FASTA	249	27,574
	10 20 30 40 50 60 MASRRMETKP VITCLKTLLI IYSFVFWITG VILLAVGVWG KLTLGTYISL IAENSTNAPY 70 80 90 100 110 120 VLIGTGTTIV VFGLFGCFAT CRGSPWMLKL YAMFLSLVFL AELVAGISGF VFRHEIKDTF 130 140 150 160 170 180 LRTYTDAMQT YNGNDERSRA VDHVQRSLSC CGVQNYTNWS TSPYFLEHGI PPSCCMNETD 190 200 210 220 230 240 CNPQDLHNLT VAATKVNQKG CYDLVTSFME TNMGIIAGVA FGIAFSQLIG MLLACCLSRF ITANQYEMV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation of a novel cDNA clone showing marked similarity to ME491/CD63 superfamily." Emi N., Kitaori K., Seto M., Ueda R., Saito H., Takahashi T. Immunogenetics 37:193-198(1993) [PubMed: 8420826] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Peripheral blood lymphocyte.
[2]	"Identification of a highly specific surface marker of T-cell acute lymphoblastic leukemia and neuroblastoma as a new member of the transmembrane 4 superfamily." Takagi S., Fujikawa K., Imai T., Fukuhara N., Fukudome K., Minegishi M., Tsuchiya S., Konno T., Hinuma Y., Yoshie O. Int. J. Cancer 61:706-715(1995) [PubMed: 7768645] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4-249. Tissue: Peripheral blood.
[3]	"A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation." Zemni R., Bienvenu T., Vinet M.C., Sefiani A., Carrie A., Billuart P., McDonell N., Couvert P., Francis F., Chafey P., Fauchereau F., Friocourt G., desPortes V., Cardona A., Frints S., Meindl A., Brandau O., Ronce N. , Moraine C., Bokhoven H.V., Ropers H.-H., Sudbrak R., Kahn A., Fryns J.-P., Beldjord C., Chelly J. Nat. Genet. 24:167-170(2000) [PubMed: 10655063] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT MRX58 HIS-172.
[4]	"Homo sapiens transmembrane 4 superfamily member 2 (TM4SF2, tetraspanins), mRNA." Wang H., Gao X., Huang Y., Han J. Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brain.
[5]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS LYS-53 AND THR-127. Tissue: Brain.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	D10653 mRNA. Translation: BAA01501.1. Different initiation. D29808 mRNA. Translation: BAA06191.1. Different initiation. AJ250562 , AJ250563, AJ250564, AJ250565, AJ250566, AJ250567, AJ250568 Genomic DNA. Translation: CAB65594.1. AB062057 mRNA. Translation: BAB55825.1. AB062057 mRNA. Translation: BAB55824.1. BC018036 mRNA. Translation: AAH18036.1.
PIR	I39368.
RefSeq	NP_004606.2.
UniGene	Hs.441664
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	P41732.
Genome annotation databases
Ensembl	ENSG00000156298. Homo sapiens. [Contig view]
GeneID	7102.
KEGG	hsa:7102.
Organism-specific databases
H-InvDB	HIX0016728.
HGNC	HGNC:11854. TSPAN7.
HPA	HPA003140.
MIM	300096. gene. 300210. phenotype.
PharmGKB	PA36555.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	P41732.
HOVERGEN	P41732.
Gene expression databases
ArrayExpress	P41732.
CleanEx	HS_TSPAN7.
GermOnline	ENSG00000156298. Homo sapiens.
Family and domain databases
InterPro	IPR000301. Transmem_4. [Graphical view]
Pfam	PF00335. Tetraspannin. 1 hit. [Graphical view]
PRINTS	PR00259. TMFOUR.
PROSITE	PS00421. TM4_1. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	27785.
SOURCE	Search...

Entry information

Entry name

TSN7_HUMAN

Accession

Primary (citable) accession number: P41732
Secondary accession number(s): Q8WVG5, Q9UEY9

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	November 16, 2001
Last modified:	November 25, 2008
This is version 84 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)