DPP6 - dipeptidyl peptidase like 6 Gene

Also Known as VF2; DPL1; DPPX; MRD33

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1804

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
NOT enables dipeptidyl-peptidase activity	IDA IDA: Inferred from direct assay	8103397	GOA
enables potassium channel regulator activity	IDA IDA: Inferred from direct assay	18364354	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10551270	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in regulation of potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	18364354	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in membrane	IDA IDA: Inferred from direct assay	18364354	GOA
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	18364354	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DPP6 Protein Structure

DPPIV_N

Peptidase_S9

0
200
400
600
800
865 a.a.

Protein Preferred Names	Protein Names
dipeptidyl aminopeptidase-like protein 6	DPP VI

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03966	DPP6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21327	Dpp6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27846	Dpp6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	DPP6	NCBI