UniProt Protein Function: | TSPAN7: a multi-pass membrane protein. Member of the transmembrane 4 superfamily, also known as the tetraspanin family. These proteins apparently mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Defects in TSPAN7 are the cause of mental retardation X- linked type 58 (MRX58). 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. |
UniProt Protein Details: | Protein type:Membrane protein, integral; Membrane protein, multi-pass Chromosomal Location of Human Ortholog: Xp11.4 Cellular Component: integral to plasma membrane Biological Process: viral reproduction Disease: Mental Retardation, X-linked 58 |
NCBI Summary: | The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and may have a role in the control of neurite outgrowth. It is known to complex with integrins. This gene is associated with X-linked mental retardation and neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy. [provided by RefSeq, Jul 2008] |
UniProt Code: | P41732 |
NCBI GenInfo Identifier: | 17380550 |
NCBI Gene ID: | 7102 |
NCBI Accession: | P41732.2 |
UniProt Secondary Accession: | P41732,Q8WVG5, Q9UEY9, B2R5W7, D3DWB1, |
UniProt Related Accession: | P41732 |
Molecular Weight: | 27kDa |
NCBI Full Name: | Tetraspanin-7 |
NCBI Synonym Full Names: | tetraspanin 7 |
NCBI Official Symbol: | TSPAN7 |
NCBI Official Synonym Symbols: | A15; MXS1; CD231; MRX58; CCG-B7; TM4SF2; TALLA-1; TM4SF2b; DXS1692E |
NCBI Protein Information: | tetraspanin-7; tspan-7; CD231 antigen; tetraspanin protein; transmembrane protein A15; cell surface glycoprotein A15; transmembrane 4 superfamily 2b; transmembrane 4 superfamily member 2; membrane component chromosome X surface marker 1; membrane component, X chromosome, surface marker 1; T-cell acute lymphoblastic leukemia associated antigen 1; T-cell acute lymphoblastic leukemia-associated antigen 1 |
UniProt Protein Name: | Tetraspanin-7 |
UniProt Synonym Protein Names: | Cell surface glycoprotein A15; Membrane component chromosome X surface marker 1; T-cell acute lymphoblastic leukemia-associated antigen 1; TALLA-1; Transmembrane 4 superfamily member 2; CD_antigen: CD231 |
UniProt Gene Name: | TSPAN7 |
UniProt Entry Name: | TSN7_HUMAN |