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DPP6 dipeptidyl peptidase like 6 [ Homo sapiens (human) ]

Gene ID: 1804, updated on 7-Dec-2018

Summary

Official Symbol
DPP6provided by HGNC
Official Full Name
dipeptidyl peptidase like 6provided by HGNC
Primary source
HGNC:HGNC:3010
See related
Ensembl:ENSG00000130226 MIM:126141
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VF2; DPL1; DPPX; MRD33
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]
Expression
Biased expression in brain (RPKM 22.2), endometrium (RPKM 11.9) and 5 other tissues See more
Orthologs

Genomic context

See DPP6 in Genome Data Viewer
Location:
7q36.2
Exon count:
32
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (153747986..154894290)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (153584419..154264025) , (154400205..154685995)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375579 Neighboring gene uncharacterized LOC107986750 Neighboring gene uncharacterized LOC107986722 Neighboring gene uncharacterized LOC101929998 Neighboring gene uncharacterized LOC107984014 Neighboring gene uncharacterized LOC105375582 Neighboring gene uncharacterized LOC112267989 Neighboring gene uncharacterized LOC105375581 Neighboring gene uncharacterized LOC105375580 Neighboring gene PAXIP1 antisense RNA 2 Neighboring gene PAXIP1 antisense RNA 1 (head to head) Neighboring gene PAX interacting protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, autosomal dominant 33
MedGen: C4225375 OMIM: 616311 GeneReviews: Not available
Compare labs
Ventricular fibrillation, paroxysmal familial, 2
MedGen: C2751829 OMIM: 612956 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2017-12-26)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2017-12-26)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association study of clinical symptoms of dissociation in a trauma-exposed sample.
NHGRI GWA Catalog
A genome-wide association study of sporadic ALS in a homogenous Irish population.
NHGRI GWA Catalog
DPP6 as a candidate gene for neuroleptic-induced tardive dyskinesia.
NHGRI GWA Catalog
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
NHGRI GWA Catalog
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.
NHGRI GWA Catalog
Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.
NHGRI GWA Catalog
Genome-wide association study of pancreatic cancer in Japanese population.
NHGRI GWA Catalog
Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog
Screening for replication of genome-wide SNP associations in sporadic ALS.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ55680, MGC46605

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT dipeptidyl-peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
potassium channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
potassium channel regulator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
serine-type peptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
protein localization to plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of potassium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
dipeptidyl aminopeptidase-like protein 6
Names
DPP VI
dipeptidyl aminopeptidase IV-related protein
dipeptidyl peptidase IV-related protein
dipeptidyl peptidase VI
dipeptidyl-peptidase 6

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033878.2 RefSeqGene

    Range
    144112..1151305
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001039350.2NP_001034439.1  dipeptidyl aminopeptidase-like protein 6 isoform 3

    See identical proteins and their annotated locations for NP_001034439.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5'-most exon and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC024239, AC073336, BC150304, BX647966, DA156107, HY037545
    Consensus CDS
    CCDS75682.1
    UniProtKB/TrEMBL
    A7E2E4, E9PF59
    Related
    ENSP00000385578.1, ENST00000404039.5
    Conserved Domains (2) summary
    pfam00930
    Location:131497
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
    cl21494
    Location:577786
    Abhydrolase; alpha/beta hydrolases
  2. NM_001290252.1NP_001277181.1  dipeptidyl aminopeptidase-like protein 6 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 5'-most exon, initiates translation at an alternate start codon, and lacks two exons in the central coding region, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.
    Source sequence(s)
    AC073336, AK294483, AK308993, BC150304, DA156107
    Consensus CDS
    CCDS78291.1
    UniProtKB/TrEMBL
    A7E2E4, B7Z299, E9PDL2
    Related
    ENSP00000397303.1, ENST00000427557.1
    Conserved Domains (2) summary
    pfam00930
    Location:133454
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
    cl21494
    Location:534743
    Abhydrolase; alpha/beta hydrolases
  3. NM_001290253.1NP_001277182.1  dipeptidyl aminopeptidase-like protein 6 isoform 5

    See identical proteins and their annotated locations for NP_001277182.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks several exons, and contains an alternate 3-terminal exon, compared to variant 1. The encoded isoform (5) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC006019, AK001153, BC035912
    Consensus CDS
    CCDS78290.1
    UniProtKB/TrEMBL
    Q8IYG9
    Related
    ENSP00000384393.1, ENST00000406326.5
  4. NM_001364497.1NP_001351426.1  dipeptidyl aminopeptidase-like protein 6 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 7, 8, and 9, encodes isoform 6.
    Source sequence(s)
    AC005998, AC024239, AC024730, AC073336
    Conserved Domains (2) summary
    pfam00930
    Location:134500
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
    cl21494
    Location:580789
    Abhydrolase; alpha/beta hydrolases
  5. NM_001364498.1NP_001351427.1  dipeptidyl aminopeptidase-like protein 6 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 6, 8, and 9, encodes isoform 6.
    Source sequence(s)
    AC005998, AC024239, AC024730, AC073336
    Conserved Domains (2) summary
    pfam00930
    Location:134500
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
    cl21494
    Location:580789
    Abhydrolase; alpha/beta hydrolases
  6. NM_001364499.1NP_001351428.1  dipeptidyl aminopeptidase-like protein 6 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 6, 7, and 9, encodes isoform 6.
    Source sequence(s)
    AC005998, AC024239, AC024730, AC073336
    Conserved Domains (2) summary
    pfam00930
    Location:134500
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
    cl21494
    Location:580789
    Abhydrolase; alpha/beta hydrolases
  7. NM_001364500.1NP_001351429.1  dipeptidyl aminopeptidase-like protein 6 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 6, 7, and 8, encodes isoform 6.
    Source sequence(s)
    AC005998, AC024239, AC024730, AC073336
    Conserved Domains (2) summary
    pfam00930
    Location:134500
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
    cl21494
    Location:580789
    Abhydrolase; alpha/beta hydrolases
  8. NM_001364501.1NP_001351430.1  dipeptidyl aminopeptidase-like protein 6 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC005588, AC024239, AC024730, AC073336
    Conserved Domains (1) summary
    pfam00930
    Location:131366
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
  9. NM_001364502.1NP_001351431.1  dipeptidyl aminopeptidase-like protein 6 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC024730, AC099341, AC142230
    Conserved Domains (1) summary
    cl28622
    Location:2555
    PLN02870; Probable galacturonosyltransferase
  10. NM_001936.4NP_001927.3  dipeptidyl aminopeptidase-like protein 6 isoform 2

    See identical proteins and their annotated locations for NP_001927.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 5'-most exon and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2, also referred to as S) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC024239, AC073336, AK308993, BC150304, DA156107, HY037545
    Consensus CDS
    CCDS75684.1
    UniProtKB/TrEMBL
    A7E2E4
    Related
    ENSP00000328226.3, ENST00000332007.7
    Conserved Domains (2) summary
    pfam00930
    Location:133499
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
    cl21494
    Location:579788
    Abhydrolase; alpha/beta hydrolases
  11. NM_130797.4NP_570629.2  dipeptidyl aminopeptidase-like protein 6 isoform 1

    See identical proteins and their annotated locations for NP_570629.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also referred to as L).
    Source sequence(s)
    AC006019, AC024239, AC073336, BC035912, BC150304, DA156107, HY037545
    Consensus CDS
    CCDS75683.1
    UniProtKB/Swiss-Prot
    P42658
    UniProtKB/TrEMBL
    A7E2E4, Q8IYG9
    Related
    ENSP00000367001.3, ENST00000377770.7
    Conserved Domains (2) summary
    pfam00930
    Location:195561
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
    cl21494
    Location:641850
    Abhydrolase; alpha/beta hydrolases

RNA

  1. NR_157195.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005588, AC024239, AC024730, AC073336
  2. NR_157196.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC024239, AC024730, AC073336, AC099341

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    153747986..154894290
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011808.2XP_016867297.1  dipeptidyl aminopeptidase-like protein 6 isoform X1

    Conserved Domains (2) summary
    pfam00930
    Location:134500
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
    cl21494
    Location:580789
    Abhydrolase; alpha/beta hydrolases
  2. XM_017011810.2XP_016867299.1  dipeptidyl aminopeptidase-like protein 6 isoform X1

    Conserved Domains (2) summary
    pfam00930
    Location:134500
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
    cl21494
    Location:580789
    Abhydrolase; alpha/beta hydrolases
  3. XM_017011809.2XP_016867298.1  dipeptidyl aminopeptidase-like protein 6 isoform X1

    Conserved Domains (2) summary
    pfam00930
    Location:134500
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
    cl21494
    Location:580789
    Abhydrolase; alpha/beta hydrolases
  4. XM_017011811.2XP_016867300.1  dipeptidyl aminopeptidase-like protein 6 isoform X1

    Conserved Domains (2) summary
    pfam00930
    Location:134500
    DPPIV_N; Dipeptidyl peptidase IV (DPP IV) N-terminal region
    cl21494
    Location:580789
    Abhydrolase; alpha/beta hydrolases
  5. XM_017011812.2XP_016867301.1  dipeptidyl aminopeptidase-like protein 6 isoform X2

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_012132919.1 Reference GRCh38.p12 PATCHES

    Range
    23861..165626
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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