Human Gene DPP6 (ENST00000377770.8) from GENCODE V44
  Description: Homo sapiens dipeptidyl peptidase like 6 (DPP6), transcript variant 1, mRNA. (from RefSeq NM_130797)
RefSeq Summary (NM_130797): 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].
Gencode Transcript: ENST00000377770.8
Gencode Gene: ENSG00000130226.18
Transcript (Including UTRs)
   Position: hg38 chr7:154,052,398-154,894,285 Size: 841,888 Total Exon Count: 26 Strand: +
Coding Region
   Position: hg38 chr7:154,052,821-154,892,480 Size: 839,660 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:154,052,398-154,894,285)mRNA (may differ from genome)Protein (865 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DPP6_HUMAN
DESCRIPTION: RecName: Full=Dipeptidyl aminopeptidase-like protein 6; AltName: Full=DPPX; AltName: Full=Dipeptidyl aminopeptidase-related protein; AltName: Full=Dipeptidyl peptidase 6; AltName: Full=Dipeptidyl peptidase IV-like protein; AltName: Full=Dipeptidyl peptidase VI; Short=DPP VI;
FUNCTION: May be involved in the physiological processes of brain function. Has no dipeptidyl aminopeptidase activity. May modulate the cell surface expression and the activity of the potassium channel KCND2.
SUBUNIT: Homodimer. Binds KCND2.
SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein (Probable).
TISSUE SPECIFICITY: Expressed predominantly in brain.
DISEASE: Defects in DPP6 are the cause of familial paroxysmal ventricular fibrillation type 2 (VF2) [MIM:612956]. 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. Note=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.
MISCELLANEOUS: Genetic variation in DPP6 may influence susceptibility to amyotrophic lateral sclerosis (ALS). ALS is a severely disabling and lethal disorder caused by progressive degeneration of motor neurons in the brain, spinal cord and brainstem.
SIMILARITY: Belongs to the peptidase S9B family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DPP6
Diseases sorted by gene-association score: mental retardation, autosomal dominant 33* (1229), ventricular fibrillation, paroxysmal familial, 2* (1050), autosomal dominant microcephaly* (375), idiopathic ventricular fibrillation, non brugada type* (247), paroxysmal ventricular fibrillation (14), gastrointestinal lymphoma (9), lateral sclerosis (5), hyperekplexia (4), gilles de la tourette syndrome (3), microcephaly (2), amyotrophic lateral sclerosis 1 (0)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 30.42 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 287.48 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -173.90423-0.411 Picture PostScript Text
3' UTR -626.601805-0.347 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001375 - Peptidase_S9
IPR002469 - Peptidase_S9B

Pfam Domains:
PF00930 - Dipeptidyl peptidase IV (DPP IV) N-terminal region
PF00326 - Prolyl oligopeptidase family

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1XFD - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P42658
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008236 serine-type peptidase activity
GO:0015459 potassium channel regulator activity
GO:0008239 dipeptidyl-peptidase activity

Biological Process:
GO:0006508 proteolysis
GO:0072659 protein localization to plasma membrane
GO:1901379 regulation of potassium ion transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC150304 - Homo sapiens dipeptidyl-peptidase 6, mRNA (cDNA clone MGC:167068 IMAGE:8860401), complete cds.
BX647966 - Homo sapiens mRNA; cDNA DKFZp686C1352 (from clone DKFZp686C1352).
BC035912 - Homo sapiens dipeptidyl-peptidase 6, mRNA (cDNA clone IMAGE:5494573), complete cds.
M96859 - Human dipeptidyl aminopeptidase like protein mRNA, complete cds.
AK309760 - Homo sapiens cDNA, FLJ99801.
AK308993 - Homo sapiens cDNA, FLJ99034.
AK293582 - Homo sapiens cDNA FLJ60433 complete cds, moderately similar to Dipeptidyl aminopeptidase-like protein 6.
M96860 - Human dipeptidyl aminopeptidase like protein mRNA, complete cds.
AK294483 - Homo sapiens cDNA FLJ55680 complete cds, highly similar to Dipeptidyl aminopeptidase-like protein 6.
AB384749 - Synthetic construct DNA, clone: pF1KB3104, Homo sapiens DPP6 gene for dipeptidyl aminopeptidase-like protein 6, complete cds, without stop codon, in Flexi system.
KJ896723 - Synthetic construct Homo sapiens clone ccsbBroadEn_06117 DPP6 gene, encodes complete protein.
KJ905192 - Synthetic construct Homo sapiens clone ccsbBroadEn_14618 DPP6 gene, encodes complete protein.
JC506684 - Sequence 52 from Patent EP2733220.
JC737796 - Sequence 52 from Patent WO2014075939.
AK126619 - Homo sapiens cDNA FLJ44657 fis, clone BRACE3001403.
AK131502 - Homo sapiens cDNA FLJ16710 fis, clone UTERU2021820.
JD404320 - Sequence 385344 from Patent EP1572962.
JD207201 - Sequence 188225 from Patent EP1572962.
JD462187 - Sequence 443211 from Patent EP1572962.
JD390321 - Sequence 371345 from Patent EP1572962.
JD310568 - Sequence 291592 from Patent EP1572962.
JD097796 - Sequence 78820 from Patent EP1572962.
JD242059 - Sequence 223083 from Patent EP1572962.
JD286483 - Sequence 267507 from Patent EP1572962.
JD562341 - Sequence 543365 from Patent EP1572962.
JD464461 - Sequence 445485 from Patent EP1572962.
JD468432 - Sequence 449456 from Patent EP1572962.
JD188951 - Sequence 169975 from Patent EP1572962.
JD306863 - Sequence 287887 from Patent EP1572962.
JD146301 - Sequence 127325 from Patent EP1572962.
JD095064 - Sequence 76088 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: DPP6_HUMAN, ENST00000377770.1, ENST00000377770.2, ENST00000377770.3, ENST00000377770.4, ENST00000377770.5, ENST00000377770.6, ENST00000377770.7, NM_130797, P42658, uc003wlk.1, uc003wlk.2, uc003wlk.3, uc003wlk.4, uc003wlk.5
UCSC ID: ENST00000377770.8
RefSeq Accession: NM_130797
Protein: P42658 (aka DPP6_HUMAN)
CCDS: CCDS75683.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.