Version 5.4
| Homo sapiens Protein: CPA6 | |||||||||
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| Summary | |||||||||
| InnateDB Protein | IDBP-478830.4 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | CPA6 | ||||||||
| Protein Name | carboxypeptidase A6 | ||||||||
| Synonyms | |||||||||
| Species | Homo sapiens | ||||||||
| Ensembl Protein | ENSP00000431112 | ||||||||
| InnateDB Gene | IDBG-24436 (CPA6) | ||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||
| Function | May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II. {ECO:0000269PubMed:18178555}. | ||||||||
| Subcellular Localization | Secreted, extracellular space, extracellular matrix {ECO:0000269PubMed:18178555}. | ||||||||
| Disease Associations | Note=A chromosomal aberration involving CPA6 was found in a patient with Duane retraction syndrome. Translocation t(6;8)(q26;q13).Epilepsy, familial temporal lobe, 5 (ETL5) [MIM:614417]: A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. {ECO:0000269PubMed:21922598}. Note=The disease is caused by mutations affecting the gene represented in this entry.Febrile seizures, familial, 11 (FEB11) [MIM:614418]: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. {ECO:0000269PubMed:21922598}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||
| Tissue Specificity | Expressed in the hippocampus, nucleus raphe, and cortex. {ECO:0000269PubMed:21922598}. | ||||||||
| 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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| 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 |
IPR000834
Peptidase M14, carboxypeptidase A IPR003146 Proteinase inhibitor, carboxypeptidase propeptide IPR009020 Proteinase inhibitor, propeptide |
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| PFAM |
PF00246
PF02244 |
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| PRINTS |
PR00765
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| PIRSF | |||||||||
| SMART |
SM00631
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| TIGRFAMs | |||||||||
| Post-translational Modifications | |||||||||
| Modification | |||||||||
| Cross-References | |||||||||
| SwissProt | Q8N4T0 | ||||||||
| PhosphoSite | PhosphoSite-Q8N4T0 | ||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 57094 | ||||||||
| UniGene | Hs.658850 | ||||||||
| RefSeq | |||||||||
| HUGO | HGNC:17245 | ||||||||
| OMIM | 609562 | ||||||||
| CCDS | |||||||||
| HPRD | 09891 | ||||||||
| IMGT | |||||||||
| EMBL | AF221594 AF466284 AY044833 BC033684 BK000188 | ||||||||
| GenPept | AAF91231 AAH33684 AAK84941 AAM19307 DAA00037 | ||||||||