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

    Gene ID: 1804, updated on 3-Apr-2024

    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; AllianceGenome:HGNC:3010
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DPP6 in Genome Data Viewer
    Location:
    7q36.2
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (153748133..154894285)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (154922684..156069555)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (153445218..154685995)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375579 Neighboring gene uncharacterized LOC107986750 Neighboring gene NANOG hESC enhancer GRCh37_chr7:153367335-153367836 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:153501631-153501821 Neighboring gene uncharacterized LOC107986722 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:153555187-153556386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:153583199-153583700 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:153632460-153632651 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:153640855-153641356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:153641357-153641856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:153686082-153686582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:153748374-153748976 Neighboring gene uncharacterized LOC101929998 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:153797461-153797962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:153880891-153881704 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:153881705-153882518 Neighboring gene NANOG hESC enhancer GRCh37_chr7:153895575-153896144 Neighboring gene uncharacterized LOC105375582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:153991562-153992062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:154376061-154376644 Neighboring gene uncharacterized LOC105375581 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:154451859-154453058 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:154455057-154456256 Neighboring gene Sharpr-MPRA regulatory region 9204 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:154541852-154542037 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:154559199-154559739 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:154574745-154575246 Neighboring gene uncharacterized LOC105375580 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:154649493-154650146 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:154648838-154649492 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:154660288-154661046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26889 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:154737734-154738933 Neighboring gene PAXIP1 antisense RNA 2 Neighboring gene uncharacterized LOC124901781 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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Intellectual disability, autosomal dominant 33
    MedGen: C4225375 OMIM: 616311 GeneReviews: Not available
    not available
    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 2019-06-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2019-06-26)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ55680, MGC46605

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables dipeptidyl-peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables potassium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables potassium channel regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables potassium channel regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables serine-type peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in protein localization to plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of potassium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of voltage-gated potassium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of 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)

    NEW Try the new Transcript table

    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
      309413..1151300
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039350.3NP_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_001290252.2NP_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, AC099341, AK294483, AK308993, BC150304, DA156107
      Consensus CDS
      CCDS78291.1
      UniProtKB/TrEMBL
      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:534740
      Abhydrolase; alpha/beta hydrolases
    3. NM_001290253.2NP_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_001364497.2NP_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
      Consensus CDS
      CCDS94238.1
      UniProtKB/TrEMBL
      A0A994J7K0, A7E2E4
      Related
      ENSP00000516215.1, ENST00000706130.1
      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_001364498.2NP_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
      Consensus CDS
      CCDS94238.1
      UniProtKB/TrEMBL
      A0A994J7K0, A7E2E4
      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_001364499.2NP_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
      Consensus CDS
      CCDS94238.1
      UniProtKB/TrEMBL
      A0A994J7K0, A7E2E4
      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_001364500.2NP_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
      Consensus CDS
      CCDS94238.1
      UniProtKB/TrEMBL
      A0A994J7K0, A7E2E4
      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_001364501.2NP_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_001364502.2NP_001351431.1  dipeptidyl aminopeptidase-like protein 6 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC024730, AC099341, AC142230
      Consensus CDS
      CCDS94239.1
      UniProtKB/TrEMBL
      A0A994J521, Q75MI7
      Related
      ENSP00000516214.1, ENST00000496611.2
      Conserved Domains (1) summary
      cl28622
      Location:2555
      PLN02870; Probable galacturonosyltransferase
    10. NM_001936.5NP_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, AC099341, 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
      Related
      ENSP00000367001.3, ENST00000377770.8
      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_157195.2 RNA Sequence

      Status: REVIEWED

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

      Status: REVIEWED

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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      153748133..154894285
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419951.1XP_047275907.1  dipeptidyl aminopeptidase-like protein 6 isoform X2

      UniProtKB/TrEMBL
      A0A994J7K0
    2. XM_017011812.3XP_016867301.1  dipeptidyl aminopeptidase-like protein 6 isoform X1

      UniProtKB/TrEMBL
      Q75MF0
      Related
      ENSP00000516234.1, ENST00000706151.1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_012132919.1 Reference GRCh38.p14 PATCHES

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      154922684..156069555
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357416.1XP_054213391.1  dipeptidyl aminopeptidase-like protein 6 isoform X1