Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1804
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol DPP6   Gene   UCSC   Ensembl
Aliases DPL1, DPPX, MRD33, VF2
Gene name dipeptidyl peptidase like 6
Alternate names dipeptidyl aminopeptidase-like protein 6, DPP VI, dipeptidyl aminopeptidase IV-related protein, dipeptidyl peptidase IV-related protein, dipeptidyl peptidase VI, dipeptidyl-peptidase 6,
Gene location 7q36.2 (153747985: 154894289)     Exons: 32     NC_000007.14
Gene summary(Entrez) 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]
OMIM 126141

SNPs

 rs758316

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000669.2   g.153934563G>A
NC_000007.13   g.153631648G>A
NC_000007.14   g.153934563G>A
NG_033878.1   g.52230G>A
NM_001039350.2   c.51+46829G>A

Protein Summary
Protein general information P42658  

Name: Dipeptidyl aminopeptidase like protein 6 (DPPX) (Dipeptidyl aminopeptidase related protein) (Dipeptidyl peptidase 6) (Dipeptidyl peptidase IV like protein) (Dipeptidyl peptidase VI) (DPP VI)

Length: 865  Mass: 97,588

Tissue specificity: Expressed predominantly in brain.

Sequence MASLYQRFTGKINTSRSFPAPPEASHLLGGQGPEEDGGAGAKPLGPRAQAAAPRERGGGGGGAGGRPRFQYQARS
DGDEEDELVGSNPPQRNWKGIAIALLVILVICSLIVTSVILLTPAEDNSLSQKKKVTVEDLFSEDFKIHDPEAKW
ISDTEFIYREQKGTVRLWNVETNTSTVLIEGKKIESLRAIRYEISPDREYALFSYNVEPIYQHSYTGYYVLSKIP
HGDPQSLDPPEVSNAKLQYAGWGPKGQQLIFIFENNIYYCAHVGKQAIRVVSTGKEGVIYNGLSDWLYEEEILKT
HIAHWWSPDGTRLAYAAINDSRVPIMELPTYTGSIYPTVKPYHYPKAGSENPSISLHVIGLNGPTHDLEMMPPDD
PRMREYYITMVKWATSTKVAVTWLNRAQNVSILTLCDATTGVCTKKHEDESEAWLHRQNEEPVFSKDGRKFFFIR
AIPQGGRGKFYHITVSSSQPNSSNDNIQSITSGDWDVTKILAYDEKGNKIYFLSTEDLPRRRQLYSANTVGNFNR
QCLSCDLVENCTYFSASFSHSMDFFLLKCEGPGVPMVTVHNTTDKKKMFDLETNEHVKKAINDRQMPKVEYRDIE
IDDYNLPMQILKPATFTDTTHYPLLLVVDGTPGSQSVAEKFEVSWETVMVSSHGAVVVKCDGRGSGFQGTKLLHE
VRRRLGLLEEKDQMEAVRTMLKEQYIDRTRVAVFGKDYGGYLSTYILPAKGENQGQTFTCGSALSPITDFKLYAS
AFSERYLGLHGLDNRAYEMTKVAHRVSALEEQQFLIIHPTADEKIHFQHTAELITQLIRGKANYSLQIYPDESHY
FTSSSLKQHLYRSIINFFVECFRIQDKLLTVTAKEDEEED
Structural information
Interpro:  IPR029058 IPR001375 IPR002469

Pfam:  		 PF00930 PF00326

PDB:  		 1XFD
PDBsum:   1XFD
STRING:   ENSP00000367001;
Other Databases GeneCards:  DPP6;  Malacards:  DPP6

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005886 plasma membrane
 ISS cellular_component
GO:0006508 proteolysis
 IEA biological_process
GO:0008076 voltage-gated potassium c
hannel complex
 IDA cellular_component
GO:0008236 serine-type peptidase act
ivity
 IEA molecular_function
GO:0009986 cell surface
 IEA cellular_component
GO:0015459 potassium channel regulat
or activity
 ISS molecular_function
GO:0015459 potassium channel regulat
or activity
 IDA molecular_function
GO:0016021 integral component of mem
brane
 IDA cellular_component
GO:0043025 neuronal cell body
 IEA cellular_component
GO:0043268 positive regulation of po
tassium ion transport
 IEA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0072659 protein localization to p
lasma membrane
 ISS biological_process
GO:1901379 regulation of potassium i
on transmembrane transpor
t
 ISS biological_process
GO:1901379 regulation of potassium i
on transmembrane transpor
t
 IDA biological_process
GO:0008239 dipeptidyl-peptidase acti
vity
 IDA molecular_function
GO:0005886 plasma membrane
 ISS cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0006508 proteolysis
 IEA biological_process
GO:0008076 voltage-gated potassium c
hannel complex
 IEA cellular_component
GO:0008076 voltage-gated potassium c
hannel complex
 IDA cellular_component
GO:0008236 serine-type peptidase act
ivity
 IEA molecular_function
GO:0009986 cell surface
 IEA cellular_component
GO:0015459 potassium channel regulat
or activity
 ISS molecular_function
GO:0015459 potassium channel regulat
or activity
 IDA molecular_function
GO:0016020 membrane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 IDA cellular_component
GO:0043025 neuronal cell body
 IEA cellular_component
GO:0043268 positive regulation of po
tassium ion transport
 IEA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0072659 protein localization to p
lasma membrane
 ISS biological_process
GO:1901379 regulation of potassium i
on transmembrane transpor
t
 ISS biological_process
GO:1901379 regulation of potassium i
on transmembrane transpor
t
 IDA biological_process
GO:0008239 dipeptidyl-peptidase acti
vity
 IDA molecular_function
GO:0005886 plasma membrane
 ISS cellular_component
GO:0008076 voltage-gated potassium c
hannel complex
 IDA cellular_component
GO:0015459 potassium channel regulat
or activity
 ISS molecular_function
GO:0015459 potassium channel regulat
or activity
 IDA molecular_function
GO:0016021 integral component of mem
brane
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0072659 protein localization to p
lasma membrane
 ISS biological_process
GO:1901379 regulation of potassium i
on transmembrane transpor
t
 ISS biological_process
GO:1901379 regulation of potassium i
on transmembrane transpor
t
 IDA biological_process
GO:0008239 dipeptidyl-peptidase acti
vity
 IDA molecular_function

Diseases

Associated diseases References
Amyotrophic lateral sclerosis (ALS) PMID: 18057069
Azoospermia PMID: 24937803
Cancer PMID: 20686608
Endometriosis PMID: 25083881
Familial idiopathic ventricular fibrillation KEGG: H00730
Mental retardation OMIM: 126141
Mood disorders PMID: 21826085
Recurrent miscarriage PMID: 24937803
Endometriosis INFBASE25083881

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25083881 Endometrio
sis
 DPP6 (rs758316), ASTN2 (rs4837864) Europea
n
 20, 100 (17,974
population con
trols, 2,126 su
rgically confir
med endometrios
is cases)
 ASTN2
DPP6
 Show abstract