Human Gene DPP6 (ENST00000332007.7) from GENCODE V44
Description: Homo sapiens dipeptidyl peptidase like 6 (DPP6), transcript variant 13, non-coding RNA. (from RefSeq NR_157196) RefSeq Summary (NM_001936): 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: ENST00000332007.7 Gencode Gene: ENSG00000130226.18 Transcript (Including UTRs) Position: hg38 chr7:154,305,110-154,893,451 Size: 588,342 Total Exon Count: 26 Strand: + Coding Region Position: hg38 chr7:154,305,495-154,892,480 Size: 586,986 Coding Exon Count: 26
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.
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.
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.
Biological Process: GO:0006508 proteolysis GO:0072659 protein localization to plasma membrane GO:1901379 regulation of potassium ion transmembrane transport
US Server
