CPA6
entrez
57094
canonical
uniprot
Q8N4T0
canonical
ensembl
ENSG00000165078
resolver
ensp
ENSP00000297770
resolver
genesymbol
CPA6
resolver
genesymbol_syn
CPAH
resolver
hgnc
HGNC:17245
resolver
uniprot
Q8NEX8
resolver
uniprot
Q8TDE8
resolver
uniprot
Q9NRI9
resolver
uniprot_entry
CBPA6_HUMAN
resolver
uniprot_sec
Q8NEX8
resolver
uniprot_sec
Q8TDE8
resolver
uniprot_sec
Q9NRI9
resolver
amino_acid_sequence
MKCLGKRRGQAAAFLPLCWLFLKILQPGHSHLYNNRYAGDKVIRFIPKTEEEAYALKKISYQLKVDLWQPSSISYVSEGTVTDVHIPQNGSRALLAFLQEANIQYKVLIEDLQKTLEKGSSLHTQRNRRSLSGYNYEVYHSLEEIQNWMHHLNKTHSGLIHMFSIGRSYEGRSLFILKLGRRSRLKRAVWIDCGIHAREWIGPAFCQWFVKEALLTYKSDPAMRKMLNHLYFYIMPVFNVDGYHFSWTNDRFWRKTRSRNSRFRCRGVDANRNWKVKWCDEGASMHPCDDTYCGPFPESEPEVKAVANFLRKHRKHIRAYLSFHAYAQMLLYPYSYKYATIPNFRCVESAAYKAVNALQSVYGVRYRYGPASTTLYVSSGSSMDWAYKNGIPYAFAFELRDTGYFGFLLPEMLIKPTCTETMLAVKNITMHLLKKCP
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving CPA6 was found in a patient with Duane retraction syndrome. Translocation t(6;8)(q26;q13).; DISEASE: 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:0000269|PubMed:21922598}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:21922598}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.17.-
uniprot
proteins
function
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 (PubMed:18178555). Releases a C-terminal amino acid, with preference for large hydrophobic C-terminal amino acids and shows only very weak activity toward small amino acids and histidine (PubMed:20855895). {ECO:0000269|PubMed:18178555, ECO:0000269|PubMed:20855895}.
uniprot
proteins
mass_dalton
51008
uniprot
proteins
protein_family
Peptidase M14 family
uniprot
proteins
pubmed
11836249
uniprot
proteins
pubmed
12454025
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18178555
uniprot
proteins
pubmed
20855895
uniprot
proteins
pubmed
21922598
uniprot
proteins
sequence_length
437
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:18178555}.
uniprot
proteins