Skip Header

 
Contribute Send feedback

Reviewed, UniProtKB/Swiss-Prot P41732 (TSN7_HUMAN)

Last modified November 25, 2008. Version 84. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length249 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence 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 componentMembrane
   DiseaseDisease mutation
Mental retardation
   DomainTransmembrane
   PTMGlycoprotein

Gene Ontology (GO)

   Biological processprotein amino acid N-linked glycosylation Ref.1

Traceable author statement. Source: ProtInc

   Cellular componentintegral to plasma membrane Ref.1

Traceable author statement. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 249249Tetraspanin-7
PRO_0000219248

Regions

Topological domain1 – 1616Cytoplasmic Potential
Transmembrane17 – 4024 Potential
Topological domain41 – 5616Extracellular Potential
Transmembrane57 – 7519 Potential
Topological domain76 – 8611Cytoplasmic Potential
Transmembrane87 – 11226 Potential
Topological domain113 – 213101Extracellular Potential
Transmembrane214 – 23421 Potential
Topological domain235 – 24915Cytoplasmic Potential

Amino acid modifications

Glycosylation541N-linked (GlcNAc...) Potential
Glycosylation1551N-linked (GlcNAc...) Potential
Glycosylation1581N-linked (GlcNAc...) Potential
Glycosylation1771N-linked (GlcNAc...) Potential
Glycosylation1881N-linked (GlcNAc...) Potential

Natural variations

Natural variant531E → K: dbSNP rs17851592.
VAR_037905
Natural variant1271A → T: dbSNP rs17851593.
VAR_037906
Natural variant1721P → H in MRX58.
VAR_009259

Experimental info

Sequence conflict1361E → K in CAB65594. Ref.3

Sequences

Sequence LengthMass (Da)Tools
P41732-1 [UniParc].

Last modified November 16, 2001. Version 2.
Checksum: F2CF4517DB388173

FASTA24927,574
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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

Cross-references

Sequence databases

D10653 mRNA. Translation: BAA01501.1. Different initiation.
D29808 mRNA. Translation: BAA06191.1. Different initiation.
AJ250562 expand/collapse EMBL AC list , 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.
PIRI39368.
RefSeqNP_004606.2.
UniGeneHs.441664

3D structure databases

ModBaseSearch...

PTM databases

PhosphoSiteP41732.

Genome annotation databases

EnsemblENSG00000156298. Homo sapiens. [Contig view]
GeneID7102.
KEGGhsa:7102.

Organism-specific databases

H-InvDBHIX0016728.
HGNCHGNC:11854. TSPAN7.
HPAHPA003140.
MIM300096. gene.
300210. phenotype.
PharmGKBPA36555.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMP41732.
HOVERGENP41732.

Gene expression databases

ArrayExpressP41732.
CleanExHS_TSPAN7.
GermOnlineENSG00000156298. Homo sapiens.

Family and domain databases

InterProIPR000301. Transmem_4.
[Graphical view]
PfamPF00335. Tetraspannin. 1 hit.
[Graphical view]
PRINTSPR00259. TMFOUR.
PROSITEPS00421. TM4_1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio27785.
SOURCESearch...

Entry information

Entry nameTSN7_HUMAN
AccessionPrimary (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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human cell differentiation molecules

CD nomenclature of surface proteins of human leucocytes and list of entries

Human chromosome X

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents