ENSG00000130175


Homo sapiens

Features
Gene ID: ENSG00000130175
  
Biological name :PRKCSH
  
Synonyms : P14314 / PRKCSH / protein kinase C substrate 80K-H
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: p13.2
Gene start: 11435288
Gene end: 11450968
  
Corresponding Affymetrix probe sets: 200707_at (Human Genome U133 Plus 2.0 Array)   214080_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000466134
Ensembl peptide - ENSP00000466012
Ensembl peptide - ENSP00000467566
Ensembl peptide - ENSP00000464835
Ensembl peptide - ENSP00000465047
Ensembl peptide - ENSP00000465461
Ensembl peptide - ENSP00000465489
Ensembl peptide - ENSP00000465821
Ensembl peptide - ENSP00000465889
Ensembl peptide - ENSP00000465948
NCBI entrez gene - 5589     See in Manteia.
OMIM - 177060
RefSeq - XM_017026977
RefSeq - NM_001001329
RefSeq - NM_001289102
RefSeq - NM_001289103
RefSeq - NM_001289104
RefSeq - NM_002743
RefSeq - XM_011528130
RefSeq - XM_011528131
RefSeq - XM_011528132
RefSeq Peptide - NP_002734
RefSeq Peptide - NP_001001329
RefSeq Peptide - NP_001276031
RefSeq Peptide - NP_001276032
RefSeq Peptide - NP_001276033
swissprot - K7EIP3
swissprot - K7EJ70
swissprot - K7EKX1
swissprot - K7EL27
swissprot - P14314
swissprot - A0A0C4DGP4
swissprot - K7ELL7
swissprot - K7EPW7
Ensembl - ENSG00000130175
  
Related genetic diseases (OMIM): 174050 - Polycystic liver disease 1, 174050
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 prkcshENSDARG00000004470Danio rerio
 O08795ENSMUSG00000003402Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR002048  EF-hand domain
 IPR002172  Low-density lipoprotein (LDL) receptor class A repeat
 IPR009011  Mannose-6-phosphate receptor binding domain superfamily
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site
 IPR026874  Glucosidase 2 subunit beta
 IPR028146  Glucosidase II beta subunit, N-terminal
 IPR036055  LDL receptor-like superfamily
 IPR036607  Glucosidase 2 subunit beta-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0001889 liver development IEA
 biological_processGO:0006457 protein folding TAS
 biological_processGO:0006491 N-glycan processing IEA
 biological_processGO:0006807 nitrogen compound metabolic process IEA
 biological_processGO:0010977 negative regulation of neuron projection development IEA
 biological_processGO:0035556 intracellular signal transduction NAS
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0051291 protein heterooligomerization IEA
 biological_processGO:0072001 renal system development IEA
 cellular_componentGO:0005622 intracellular NAS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0005080 protein kinase C binding IPI
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0044325 ion channel binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051219 phosphoprotein binding IPI


Pathways (from Reactome)
Pathway description
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
N-glycan trimming in the ER and Calnexin/Calreticulin cycle
Advanced glycosylation endproduct receptor signaling
Post-translational protein phosphorylation
Calnexin/calreticulin cycle


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000107 Renal cysts 
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 HP:0000707 Neurological abnormality "An abnormality of the central or peripheral nervous system." [HPO:curators]
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 HP:0001541 Ascites 
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 HP:0001626 Abnormality of the cardiovascular system "Any abnormality of the heart or vasculature." [HPO:curators]
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 HP:0001732 Abnormality of the pancreas 
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 HP:0002020 Gastroesophageal reflux 
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 HP:0002027 Abdominal pain 
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 HP:0002093 Respiratory insufficiency 
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 HP:0002239 Gastrointestinal hemorrhage 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002617 Aneurysm 
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 HP:0003155 Elevated alkaline phosphatase "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson]
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 HP:0003270 Abdominal distention "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators]
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 HP:0003418 Back pain 
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 HP:0003573 Increased total bilirubin 
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 HP:0005562 Multiple renal cysts 
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 HP:0006557 Polycystic liver disease 
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 HP:0008872 Feeding problems in infancy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000089597 GANAB / Q14697 / glucosidase II alpha subunit  / complex
 ENSG00000127022 CANX / P27824 / calnexin  / reaction
 ENSG00000179218 CALR / P27797 / calreticulin  / reaction
 ENSG00000167004 PDIA3 / P30101 / protein disulfide isomerase family A member 3  / reaction
 ENSG00000110917 MLEC / Q14165 / malectin  / reaction






 

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