Version 5.4
| Homo sapiens Protein: TMPRSS6 | |||
|---|---|---|---|
| Summary | |||
| InnateDB Protein | IDBP-375166.5 | ||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||
| Gene Symbol | TMPRSS6 | ||
| Protein Name | transmembrane protease, serine 6 | ||
| Synonyms | |||
| Species | Homo sapiens | ||
| Ensembl Protein | ENSP00000397691 | ||
| InnateDB Gene | IDBG-6331 (TMPRSS6) | ||
| Protein Structure |
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| UniProt Annotation | |||
| Function | Serine protease which hydrolyzes a range of proteins including type I collagen, fibronectin and fibrinogen. Can also activate urokinase-type plasminogen activator with low efficiency. May play a specialized role in matrix remodeling processes in liver. Plays a role in the regulation of iron homeostasis, a process involving HAMP. Required to sense iron deficiency and suppress activation of the HAMP promoter. {ECO:0000269PubMed:12149247, ECO:0000269PubMed:18408718}. | ||
| Subcellular Localization | Cell membrane {ECO:0000269PubMed:12149247, ECO:0000269PubMed:20518742}; Single-pass type II membrane protein {ECO:0000269PubMed:12149247, ECO:0000269PubMed:20518742}. | ||
| Disease Associations | Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]: Key features include congenital hypochromic microcytic anemia, very low mean corpuscular erythrocyte volume, low transferrin saturation, abnormal iron absorption characterized by no hematologic improvement following treatment with oral iron, and abnormal iron utilization characterized by a sluggish, incomplete response to parenteral iron. {ECO:0000269PubMed:18408718, ECO:0000269PubMed:18603562, ECO:0000269PubMed:19357398, ECO:0000269PubMed:19592582, ECO:0000269PubMed:19708871, ECO:0000269PubMed:19747362, ECO:0000269PubMed:20232450, ECO:0000269PubMed:20704562, ECO:0000269PubMed:21618415, ECO:0000269PubMed:22581667}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations leading to abrogation of TMPRSS6 activity are associated with IRIDA due to elevated levels of hepcidin, a negative regulator of plasma iron pool (PubMed:20232450). {ECO:0000269PubMed:20232450}. | ||
| Tissue Specificity | Liver specific. {ECO:0000269PubMed:12149247}. | ||
| Comments | |||
| Interactions | |||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Protein Structure and Domains | |||
| PDB ID | |||
| InterPro |
IPR000082
SEA domain IPR000859 CUB domain |
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| PFAM |
PF01390
PF00431 |
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| PRINTS | |||
| PIRSF | |||
| SMART |
SM00200
SM00042 |
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| TIGRFAMs | |||
| Post-translational Modifications | |||
| Modification | |||
| Cross-References | |||
| SwissProt | |||
| PhosphoSite | PhosphoSite-Q8IU80 | ||
| TrEMBL | X6REP5 | ||
| UniProt Splice Variant | |||
| Entrez Gene | 164656 | ||
| UniGene | Hs.370885 | ||
| RefSeq | |||
| HUGO | HGNC:16517 | ||
| OMIM | 609862 | ||
| CCDS | |||
| HPRD | 10270 | ||
| IMGT | |||
| EMBL | AL022314 | ||
| GenPept | |||