1. Gene
  2. DPP6 - dipeptidyl peptidase like 6 Gene

DPP6 - dipeptidyl peptidase like 6 Gene

中文名称:二肽基肽酶样 6

种属: Homo sapiens

同用名: VF2; DPL1; DPPX; MRD33

基因 ID: 1804 | 基因类型: protein coding

关于 DPP6

Cytogenetic location: 7q36.2 Genomic coordinates (GRCh38): 7:153,748,133-154,894,285 (from NCBI)

This gene has 23 transcripts (splice variants), 280 orthologues, 6 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 22.2), endometrium (RPKM 11.9) and 5 other tissues.

功能概要

该基因编码单程 II 型膜蛋白,它是丝氨酸蛋白酶肽酶 S9B 家族的成员。这种蛋白质没有可检测的蛋白酶活性,很可能是由于不存在通常存在于丝氨酸蛋白酶催化结构域中的保守丝氨酸残基。然而,它确实结合了特定的电压门控钾通道并改变了它们的表达和生物物理特性。该基因的变异可能与肌萎缩侧索硬化症的易感性和特发性心室颤动有关。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 3 月]

This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

DPP6 基因产物(11)

mRNA Protein Name
NM_001039350.3 NP_001034439.1 dipeptidyl aminopeptidase-like protein 6 isoform 3
NM_001290252.2 NP_001277181.1 dipeptidyl aminopeptidase-like protein 6 isoform 4
NM_001290253.2 NP_001277182.1 dipeptidyl aminopeptidase-like protein 6 isoform 5
NM_001364497.2 NP_001351426.1 dipeptidyl aminopeptidase-like protein 6 isoform 6
NM_001364498.2 NP_001351427.1 dipeptidyl aminopeptidase-like protein 6 isoform 6
NM_001364499.2 NP_001351428.1 dipeptidyl aminopeptidase-like protein 6 isoform 6
NM_001364500.2 NP_001351429.1 dipeptidyl aminopeptidase-like protein 6 isoform 6
NM_001364501.2 NP_001351430.1 dipeptidyl aminopeptidase-like protein 6 isoform 7
NM_001364502.2 NP_001351431.1 dipeptidyl aminopeptidase-like protein 6 isoform 8
NM_001936.5 NP_001927.3 dipeptidyl aminopeptidase-like protein 6 isoform 2
NM_130797.4 NP_570629.2 dipeptidyl aminopeptidase-like protein 6 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
NOT enables dipeptidyl-peptidase activity IDA
IDA: 通过直接分析推断
8103397 GOA
enables potassium channel regulator activity IDA
IDA: 通过直接分析推断
18364354 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10551270 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
18364354 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
18364354 GOA
part of voltage-gated potassium channel complex IDA
IDA: 通过直接分析推断
18364354 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

DPP6 蛋白结构

DPPIV_N

DPPIV_N: Dipeptidyl peptidase IV (DPP IV) N-terminal region (195 - 561)

Peptidase_S9

Peptidase_S9: Prolyl oligopeptidase family (642 - 849)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 865 a.a.
蛋白主名 其他名称

dipeptidyl aminopeptidase-like protein 6

DPP VI

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Dominant 33

MRD33

Autosomal Dominant Non-Syndromic Intellectual Disability 33

Mental Retardation, Autosomal Dominant 33

Autosomal Dominant Intellectual Developmental Disorder 33

Autosomal Dominant Mental Retardation 33

Mental Retardation, Autosomal Dominant, Type 33

Ventricular Fibrillation, Paroxysmal Familial, 2

VF2

Familial Paroxysmal Ventricular Fibrillation 2

Microcephaly, Autosomal Dominant

Autosomal Dominant Microcephaly

Microcephaly Autosomal Dominant

Autosomal Dominant Primary Microcephaly

Microcephaly With Autosomal Dominant Inheritance

Idiopathic Ventricular Fibrillation, Non Brugada Type

Familial Paroxysmal Ventricular Fibrillation, Non Brugada Type

Lateral Sclerosis

Primary Lateral Sclerosis

Adult-Onset Primary Lateral Sclerosis

Adult-Onset Pls

Motor Neuron Disease

Pls

Pls - [Primary Lateral Sclerosis]

Lateral Spinal Sclerosis

Lateral Complete Paralysis

Lateral Incomplete Paralysis

Lateral Paralysis

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

La Crosse Encephalitis

California Encephalitis

California Virus Encephalitis

Neuroinvasive California Encephalitis Virus Infection

Californian Encephalitis

Encephalitis, California

California Meningoencephalitis

California Encephalitis Virus Infection

California Encephalitis Virus Infection Neuroinvasive Disease

California Meningoencephalitis Virus Disease

California Serogroup Virus Neuroinvasive Disease

California Viral Encephalitis

Ce - [California Encephalitis]

Lac - [La Crosse Encephalitis]

Autoimmune Epilepsy
Stiff-Person Syndrome

SPS

Stiff-Man Syndrome

Stiff Man Syndrome

Stiff Person Syndrome

Moersch-Woltman Syndrome

Sms

Stiff-Trunk Syndrome

Morsch Woltman Syndrome

Stiff Person Syndrome And Related Disorders

Stiff Person Spectrum Disorder

Classic Stiff Person Syndrome

Classic Sps

Focal Stiff Limb Syndrome

Focal Stiff-Person Syndrome

Stiff Leg Syndrome

Progressive Encephalomyelitis With Rigidity

Limbic Encephalitis
Whipple Disease

Intestinal Lipodystrophy

Whipple'S Disease

Intestinal Lipophagic Granulomatosis

Secondary Non-Tropical Sprue

Tropheryma Whippelii Infection

Whipples Disease

Acute Disseminated Encephalomyelitis

Acute Disseminated Encephalitis

Adem

Ade

Encephalomyelitis Acute Disseminated

Encephalomyelitis, Acute Disseminated

Adem - [Acute Disseminated Encephalomyelitis]

Hyperekplexia

Hereditary Hyperekplexia

Kok Disease

Congenital Stiff Man Syndrome

Familial Startle Disease

Sthe

Stiff-Baby Syndrome

Hereditary Hyperexplexia

Startle Disease

Exaggerated Startle Reaction

Hyperexplexia Hereditary

Startle Disease, Familial

Startle Reaction, Exaggerated

Stiff-Man Syndrome, Congenital

Stiff-Person Syndrome, Congenital

Congenital Stiff-Man Syndrome

Congenital Stiff-Person Syndrome

Familial Hyperekplexia

Startle Syndrome

Stiff Baby Syndrome

Hyperekplexia, Hereditary

Stiff-Person Syndrome

Von Economo'S Disease

Encephalitis Lethargica

Von Economo Encephalitis

Von Economo Disease

Postinfectious Encephalitis

Postinfective Encephalitis

Secondary Encephalitis

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Mutism
Hemochromatosis, Type 1

Hemochromatosis

Hemochromatosis Type 1

Hereditary Hemochromatosis

Hh

HFE1

Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

Haemochromatosis

Iron Storage Disorder

Bronze Diabetes

Hereditary Haemochromatosis

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis

Choreatic Disease

Chorea

Hereditary Chorea

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Mus musculus DPP6 MGD MGI:94921
Bos taurus DPP6 VGNC VGNC:106716
Canis familiaris DPP6 VGNC VGNC:40075
Felis catus DPP6 VGNC VGNC:61605
Macaca mulatta DPP6 VGNC VGNC:71980
Rattus norvegicus DPP6 RGD RGD:68402