Entity Details

Primary name DPP6_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP42658
EntryNameDPP6_HUMAN
FullNameDipeptidyl aminopeptidase-like protein 6
TaxID9606
Evidenceevidence at protein level
Length865
SequenceStatuscomplete
DateCreated1995-11-01
DateModified2021-06-02

Ontological Relatives

GenesDPP6

GO terms

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GOName
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0008236 serine-type peptidase activity
GO:0015459 potassium channel regulator activity
GO:0016021 integral component of membrane
GO:0072659 protein localization to plasma membrane
GO:1901379 regulation of potassium ion transmembrane transport

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR001375 Peptidase S9, prolyl oligopeptidase, catalytic domainDomainDomain
IPR002469 Dipeptidylpeptidase IV, N-terminal domainDomainDomain
IPR029058 Alpha/Beta hydrolase foldFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
612956 OMIMFamilial paroxysmal ventricular fibrillation 2 (VF2)A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity. The disease is caused by variants affecting the gene represented in this entry. A genetic variation 340 bases upstream from the ATG start site of the DPP6 gene is the cause of familial paroxysmal ventricular fibrillation type 2.
616311 OMIMMental retardation, autosomal dominant 33 (MRD33)A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD33 patients manifest microcephaly and intellectual disability. The disease is caused by variants affecting the gene represented in this entry.