ENSG00000170927


Homo sapiens

Features
Gene ID: ENSG00000170927
  
Biological name :PKHD1
  
Synonyms : P08F94 / PKHD1 / PKHD1, fibrocystin/polyductin
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p12.2
Gene start: 51615300
Gene end: 52087625
  
Corresponding Affymetrix probe sets: 1553003_at (Human Genome U133 Plus 2.0 Array)   241694_at (Human Genome U133 Plus 2.0 Array)   244410_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000341097
Ensembl peptide - ENSP00000360158
NCBI entrez gene - 5314     See in Manteia.
OMIM - 606702
RefSeq - XM_017010952
RefSeq - NM_138694
RefSeq - NM_170724
RefSeq - XM_017010949
RefSeq - XM_017010950
RefSeq - XM_017010951
RefSeq - XM_011514680
RefSeq - XM_011514682
RefSeq - XM_011514683
RefSeq - XM_011514684
RefSeq - XM_011514685
RefSeq - XM_011514686
RefSeq - XM_011514687
RefSeq - XM_011514688
RefSeq - XM_017010944
RefSeq - XM_017010945
RefSeq - XM_017010946
RefSeq - XM_017010947
RefSeq - XM_017010948
RefSeq Peptide - NP_733842
RefSeq Peptide - NP_619639
swissprot - P08F94
Ensembl - ENSG00000170927
  
Related genetic diseases (OMIM): 263200 - Polycystic kidney disease 4, with or without hepatic disease, 263200
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
 PKHD1ENSGALG00000042136Gallus gallus
 Pkhd1ENSMUSG00000043760Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q86WI1 / PKHD1L1 / PKHD1 like 1ENSG0000020503825
CEMIP / Q8WUJ3 / cell migration inducing hyaluronan binding proteinENSG000001038886
TMEM2 / Q9UHN6 / transmembrane protein 2ENSG000001350486


Protein motifs (from Interpro)
Interpro ID Name
 IPR002909  IPT domain
 IPR006626  Parallel beta-helix repeat
 IPR011050  Pectin lyase fold/virulence factor
 IPR012334  Pectin lyase fold
 IPR013783  Immunoglobulin-like fold
 IPR014756  Immunoglobulin E-set
 IPR019316  G8 domain
 IPR028839  Fibrocystin
 IPR037524  PA14/GLEYA domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001822 kidney development ISS
 biological_processGO:0006874 cellular calcium ion homeostasis IMP
 biological_processGO:0008284 positive regulation of cell proliferation IMP
 biological_processGO:0010824 regulation of centrosome duplication IMP
 biological_processGO:0032006 regulation of TOR signaling IMP
 biological_processGO:0032088 negative regulation of NF-kappaB transcription factor activity IMP
 biological_processGO:0042592 homeostatic process NAS
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0051271 negative regulation of cellular component movement ISS
 biological_processGO:0051898 negative regulation of protein kinase B signaling IMP
 biological_processGO:0060271 cilium assembly ISS
 biological_processGO:0070372 regulation of ERK1 and ERK2 cascade IMP
 biological_processGO:0098609 cell-cell adhesion ISS
 cellular_componentGO:0000775 chromosome, centromeric region IEA
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005819 spindle IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IDA
 cellular_componentGO:0031362 anchored component of external side of plasma membrane TAS
 cellular_componentGO:0036064 ciliary basal body IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0072686 mitotic spindle IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000083 Renal failure 
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 HP:0000105 Enlarged kidneys 
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 HP:0000107 Renal cysts 
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 HP:0000113 Polycystic kidney 
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000368 Low-set, posteriorly rotated ears 
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 HP:0000400 Large ears 
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 HP:0000457 Flat nose 
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 HP:0001080 Biliary tract abnormality 
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 HP:0001405 Periportal fibrosis 
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 HP:0001407 Hepatic cysts 
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 HP:0001409 Portal hypertension 
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 HP:0001562 Oligohydramnios 
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 HP:0001737 Pancreatic cysts 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001944 Dehydration 
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 HP:0002009 Potter facies 
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 HP:0002040 Esophageal varices 
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 HP:0002089 Pulmonary hypoplasia 
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 HP:0002093 Respiratory insufficiency 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002612 Congenital hepatic fibrosis 
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 HP:0003811 Neonatal death 
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 HP:0005562 Multiple renal cysts 
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 HP:0005564 Absence of corticomedullary differentiation 
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 HP:0005576 Tubulointerstitial fibrosis 
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 HP:0008678 Renal hypoplasia/aplasia 
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 HP:0100720 Hypoplasia of the ear cartilage 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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