Homo sapiens Protein: TNXB | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-79911.7 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | TNXB | ||||||||||||||||||
Protein Name | tenascin XB | ||||||||||||||||||
Synonyms | EDS3; HXBL; TENX; TN-X; TNX; TNXB1; TNXB2; TNXBS; VUR8; XB; XBS; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000364396 | ||||||||||||||||||
InnateDB Gene | IDBG-79909 (TNXB) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Appears to mediate interactions between cells and the extracellular matrix. Substrate-adhesion molecule that appears to inhibit cell migration. Accelerates collagen fibril formation. May play a role in supporting the growth of epithelial tumors. {ECO:0000269PubMed:17033827}. | ||||||||||||||||||
Subcellular Localization | Secreted, extracellular space, extracellular matrix. | ||||||||||||||||||
Disease Associations | Tenascin-X deficiency (TNXD) [MIM:606408]: TNXD leads to an Ehlers-Danlos-like syndrome characterized by hyperextensible skin, hypermobile joints, and tissue fragility. Tenascin-X- deficient patients, however, lack atrophic scars, a major diagnostic criteria for classic Ehlers-Danlos. Delayed wound healing, which is also common in classic EDS, is only present in a subset of patients. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Highly expressed in fetal adrenal, in fetal testis, fetal smooth, striated and cardiac muscle. Isoform XB- short is only expressed in the adrenal gland. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000742
Epidermal growth factor-like domain IPR003961 Fibronectin, type III IPR013111 EGF-like domain, extracellular |
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PFAM |
PF00008
PF00041 PF01108 PF07974 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00181
SM00060 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P22105 | ||||||||||||||||||
PhosphoSite | PhosphoSite-P22105 | ||||||||||||||||||
TrEMBL | Q9NPK8 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 7148 | ||||||||||||||||||
UniGene | Hs.485104 | ||||||||||||||||||
RefSeq | |||||||||||||||||||
HUGO | HGNC:11976 | ||||||||||||||||||
OMIM | 600985 | ||||||||||||||||||
CCDS | |||||||||||||||||||
HPRD | 02993 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB209012 AF019413 AL049547 AL645922 AL662828 AL662849 AL662884 AL772248 BC033740 BC125114 BC125115 BC130037 CH471081 M25813 U24488 U52696 U89337 X71923 Y13782 Y13783 | ||||||||||||||||||
GenPept | AAA35884 AAB41287 AAB47488 AAB67981 AAC50889 AAH33740 AAI25115 AAI25116 AAI30038 BAD92249 CAA50739 CAA74109 CAA74110 CAB89296 CAB89297 CAB89300 CAI17414 CAI17471 CAI18078 CAI18332 CAQ09268 EAX03574 | ||||||||||||||||||