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UniProtKB - P42658 (DPP6_HUMAN)

Protein

Dipeptidyl aminopeptidase-like protein 6

Gene

DPP6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Promotes cell surface expression of the potassium channel KCND2 (PubMed:15454437, PubMed:19441798). Modulates the activity and gating characteristics of the potassium channel KCND2 (PubMed:18364354). Has no dipeptidyl aminopeptidase activity (PubMed:8103397, PubMed:15476821).1 Publication3 Publications

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.

GO - Molecular functioni

  • potassium channel regulator activity Source: UniProtKB
  • serine-type peptidase activity Source: InterPro
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Protein family/group databases

ESTHERihuman-DPP6 DPP4N_Peptidase_S9
MEROPSiS09.973
TCDBi8.A.51.1.1 the dipeptidyl-aminopeptidase-like protein 6 beta subunit of kv4 channels (dpp6) family

Names & Taxonomyi

Protein namesi
Recommended name:
Dipeptidyl aminopeptidase-like protein 6
Alternative name(s):
DPPX
Dipeptidyl aminopeptidase-related protein
Dipeptidyl peptidase 6
Dipeptidyl peptidase IV-like protein
Dipeptidyl peptidase VI
Short name:
DPP VI
Gene namesi
Name:DPP6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000130226.16
HGNCiHGNC:3010 DPP6
MIMi126141 gene
neXtProtiNX_P42658

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 95CytoplasmicSequence analysisAdd BLAST95
Transmembranei96 – 116Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini117 – 865ExtracellularSequence analysisAdd BLAST749

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Familial paroxysmal ventricular fibrillation 2 (VF2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. 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.
Disease descriptionA 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.
See also OMIM:612956
Mental retardation, autosomal dominant 33 (MRD33)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD33 patients manifest microcephaly and intellectual disability.
See also OMIM:616311
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073680385M → L in MRD33. 1 PublicationCorresponds to variant dbSNP:rs786205143EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation, Neurodegeneration

Organism-specific databases

DisGeNETi1804
MalaCardsiDPP6
MIMi612956 phenotype
616311 phenotype
OpenTargetsiENSG00000130226
Orphaneti2514 Autosomal dominant primary microcephaly
228140 Idiopathic ventricular fibrillation, non Brugada type
PharmGKBiPA27468

Polymorphism and mutation databases

BioMutaiDPP6
DMDMi218512016

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001224091 – 865Dipeptidyl aminopeptidase-like protein 6Add BLAST865

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi173N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi319N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi404N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi411 ↔ 4181 Publication
Glycosylationi471N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi527 ↔ 5301 Publication
Glycosylationi535N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi536 ↔ 5541 Publication
Glycosylationi566N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi735 ↔ 8461 Publication
Glycosylationi813N-linked (GlcNAc...) asparagine1 Publication1

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP42658
PeptideAtlasiP42658
PRIDEiP42658
ProteomicsDBi55521
55522 [P42658-2]

PTM databases

iPTMnetiP42658
PhosphoSitePlusiP42658
SwissPalmiP42658

Expressioni

Tissue specificityi

Expressed predominantly in brain.

Gene expression databases

BgeeiENSG00000130226 Expressed in 153 organ(s), highest expression level in middle temporal gyrus
CleanExiHS_DPP6
ExpressionAtlasiP42658 baseline and differential
GenevisibleiP42658 HS

Organism-specific databases

HPAiHPA050509

Interactioni

Subunit structurei

Homodimer (in vitro) (PubMed:15476821). Interacts with KCND2 (PubMed:15454437, PubMed:18364354). Identified in a complex with KCND2 and KCNIP2 (PubMed:18364354). Forms an octameric complex composed of four DPP6 subunits bound to the KCND2 tetramer (PubMed:18364354).4 Publications

Protein-protein interaction databases

BioGridi108138, 13 interactors
IntActiP42658, 1 interactor
STRINGi9606.ENSP00000367001

Structurei

Secondary structure

1865
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP42658
SMRiP42658
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP42658

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase S9B family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2100 Eukaryota
COG1506 LUCA
GeneTreeiENSGT00760000119233
HOGENOMiHOG000231875
HOVERGENiHBG105877
InParanoidiP42658
OMAiYKGYAES
OrthoDBiEOG091G0GBJ
PhylomeDBiP42658
TreeFamiTF313309

Family and domain databases

Gene3Di2.140.10.30, 1 hit
3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR001375 Peptidase_S9
IPR002469 Peptidase_S9B_N
IPR038554 Peptidase_S9B_N_sf
PfamiView protein in Pfam
PF00930 DPPIV_N, 1 hit
PF00326 Peptidase_S9, 1 hit
SUPFAMiSSF53474 SSF53474, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform DPPX-L (identifier: P42658-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MASLYQRFTG KINTSRSFPA PPEASHLLGG QGPEEDGGAG AKPLGPRAQA 
        60         70         80         90        100
AAPRERGGGG GGAGGRPRFQ YQARSDGDEE DELVGSNPPQ RNWKGIAIAL 
       110        120        130        140        150
LVILVICSLI VTSVILLTPA EDNSLSQKKK VTVEDLFSED FKIHDPEAKW 
       160        170        180        190        200
ISDTEFIYRE QKGTVRLWNV ETNTSTVLIE GKKIESLRAI RYEISPDREY 
       210        220        230        240        250
ALFSYNVEPI YQHSYTGYYV LSKIPHGDPQ SLDPPEVSNA KLQYAGWGPK 
       260        270        280        290        300
GQQLIFIFEN NIYYCAHVGK QAIRVVSTGK EGVIYNGLSD WLYEEEILKT 
       310        320        330        340        350
HIAHWWSPDG TRLAYAAIND SRVPIMELPT YTGSIYPTVK PYHYPKAGSE 
       360        370        380        390        400
NPSISLHVIG LNGPTHDLEM MPPDDPRMRE YYITMVKWAT STKVAVTWLN 
       410        420        430        440        450
RAQNVSILTL CDATTGVCTK KHEDESEAWL HRQNEEPVFS KDGRKFFFIR 
       460        470        480        490        500
AIPQGGRGKF YHITVSSSQP NSSNDNIQSI TSGDWDVTKI LAYDEKGNKI 
       510        520        530        540        550
YFLSTEDLPR RRQLYSANTV GNFNRQCLSC DLVENCTYFS ASFSHSMDFF 
       560        570        580        590        600
LLKCEGPGVP MVTVHNTTDK KKMFDLETNE HVKKAINDRQ MPKVEYRDIE 
       610        620        630        640        650
IDDYNLPMQI LKPATFTDTT HYPLLLVVDG TPGSQSVAEK FEVSWETVMV 
       660        670        680        690        700
SSHGAVVVKC DGRGSGFQGT KLLHEVRRRL GLLEEKDQME AVRTMLKEQY 
       710        720        730        740        750
IDRTRVAVFG KDYGGYLSTY ILPAKGENQG QTFTCGSALS PITDFKLYAS 
       760        770        780        790        800
AFSERYLGLH GLDNRAYEMT KVAHRVSALE EQQFLIIHPT ADEKIHFQHT 
       810        820        830        840        850
AELITQLIRG KANYSLQIYP DESHYFTSSS LKQHLYRSII NFFVECFRIQ 
       860 
DKLLTVTAKE DEEED
Length:865
Mass (Da):97,588
Last modified:December 16, 2008 - v2
Checksum:iD3E654013F19D951
GO
Isoform DPPX-S (identifier: P42658-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-81: MASLYQRFTG...QARSDGDEED → MTTAKEPSASGKSVQQQEQ

Show »
Length:803
Mass (Da):91,341
Checksum:iECBC607A432CE82C
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PF59E9PF59_HUMAN
Dipeptidyl aminopeptidase-like prot...
DPP6
801Annotation score:
E9PDL2E9PDL2_HUMAN
Dipeptidyl aminopeptidase-like prot...
DPP6
758Annotation score:
Q8IYG9Q8IYG9_HUMAN
DPP6 protein
DPP6
353Annotation score:
A0A087WTG7A0A087WTG7_HUMAN
Dipeptidyl aminopeptidase-like prot...
DPP6
291Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti73A → G in AAA35760 (PubMed:8103397).Curated1
Sequence conflicti520V → E in AAA35760 (PubMed:8103397).Curated1
Sequence conflicti520V → E in AAA35761 (PubMed:8103397).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073680385M → L in MRD33. 1 PublicationCorresponds to variant dbSNP:rs786205143EnsemblClinVar.1
Natural variantiVAR_051579854L → P1 PublicationCorresponds to variant dbSNP:rs3734960Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0053651 – 81MASLY…GDEED → MTTAKEPSASGKSVQQQEQ in isoform DPPX-S. 1 PublicationAdd BLAST81

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M96859 mRNA Translation: AAA35760.1
M96860 mRNA Translation: AAA35761.1
AC006019 Genomic DNA No translation available.
AC024239 Genomic DNA No translation available.
AC024730 Genomic DNA No translation available.
AC073336 Genomic DNA No translation available.
CCDSiCCDS75683.1 [P42658-1]
CCDS75684.1 [P42658-2]
PIRiI54331
I68600
RefSeqiNP_570629.2, NM_130797.3 [P42658-1]
UniGeneiHs.490684
Hs.551097
Hs.669076
Hs.703229

Genome annotation databases

EnsembliENST00000332007; ENSP00000328226; ENSG00000130226 [P42658-2]
ENST00000377770; ENSP00000367001; ENSG00000130226 [P42658-1]
ENST00000634466; ENSP00000488956; ENSG00000282974 [P42658-2]
ENST00000634541; ENSP00000489137; ENSG00000282974 [P42658-1]
GeneIDi1804
KEGGihsa:1804
UCSCiuc003wlk.4 human [P42658-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M96859 mRNA Translation: AAA35760.1
M96860 mRNA Translation: AAA35761.1
AC006019 Genomic DNA No translation available.
AC024239 Genomic DNA No translation available.
AC024730 Genomic DNA No translation available.
AC073336 Genomic DNA No translation available.
CCDSiCCDS75683.1 [P42658-1]
CCDS75684.1 [P42658-2]
PIRiI54331
I68600
RefSeqiNP_570629.2, NM_130797.3 [P42658-1]
UniGeneiHs.490684
Hs.551097
Hs.669076
Hs.703229

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1XFDX-ray3.00A/B/C/D127-849[»]
ProteinModelPortaliP42658
SMRiP42658
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108138, 13 interactors
IntActiP42658, 1 interactor
STRINGi9606.ENSP00000367001

Protein family/group databases

ESTHERihuman-DPP6 DPP4N_Peptidase_S9
MEROPSiS09.973
TCDBi8.A.51.1.1 the dipeptidyl-aminopeptidase-like protein 6 beta subunit of kv4 channels (dpp6) family

PTM databases

iPTMnetiP42658
PhosphoSitePlusiP42658
SwissPalmiP42658

Polymorphism and mutation databases

BioMutaiDPP6
DMDMi218512016

Proteomic databases

PaxDbiP42658
PeptideAtlasiP42658
PRIDEiP42658
ProteomicsDBi55521
55522 [P42658-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000332007; ENSP00000328226; ENSG00000130226 [P42658-2]
ENST00000377770; ENSP00000367001; ENSG00000130226 [P42658-1]
ENST00000634466; ENSP00000488956; ENSG00000282974 [P42658-2]
ENST00000634541; ENSP00000489137; ENSG00000282974 [P42658-1]
GeneIDi1804
KEGGihsa:1804
UCSCiuc003wlk.4 human [P42658-1]

Organism-specific databases

CTDi1804
DisGeNETi1804
EuPathDBiHostDB:ENSG00000130226.16
GeneCardsiDPP6
H-InvDBiHIX0020629
HGNCiHGNC:3010 DPP6
HPAiHPA050509
MalaCardsiDPP6
MIMi126141 gene
612956 phenotype
616311 phenotype
neXtProtiNX_P42658
OpenTargetsiENSG00000130226
Orphaneti2514 Autosomal dominant primary microcephaly
228140 Idiopathic ventricular fibrillation, non Brugada type
PharmGKBiPA27468
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2100 Eukaryota
COG1506 LUCA
GeneTreeiENSGT00760000119233
HOGENOMiHOG000231875
HOVERGENiHBG105877
InParanoidiP42658
OMAiYKGYAES
OrthoDBiEOG091G0GBJ
PhylomeDBiP42658
TreeFamiTF313309

Miscellaneous databases

ChiTaRSiDPP6 human
EvolutionaryTraceiP42658
GeneWikiiDPP6
GenomeRNAii1804
PROiPR:P42658
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130226 Expressed in 153 organ(s), highest expression level in middle temporal gyrus
CleanExiHS_DPP6
ExpressionAtlasiP42658 baseline and differential
GenevisibleiP42658 HS

Family and domain databases

Gene3Di2.140.10.30, 1 hit
3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR001375 Peptidase_S9
IPR002469 Peptidase_S9B_N
IPR038554 Peptidase_S9B_N_sf
PfamiView protein in Pfam
PF00930 DPPIV_N, 1 hit
PF00326 Peptidase_S9, 1 hit
SUPFAMiSSF53474 SSF53474, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDPP6_HUMAN
AccessioniPrimary (citable) accession number: P42658
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: December 16, 2008
Last modified: November 7, 2018
This is version 166 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Peptidase families
    Classification of peptidase families and list of entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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