Gene: ENSG00000170927 (Homo sapiens)

Overview top

Gene Identifier
ENSG00000170927
Transcript Identifier
ENST00000371117
Gene Type
Coding gene
Location
6 : 51619081-52084933 : negative

Family Information

Homologous gene family
HOM03P001396
(51 genes in 17 species)
specific family
Orthologous gene family
ORTHO03P006759
(12 genes in 5 species)
specific family

Descriptions

gene_descr
polycystic kidney and hepatic disease 1 (autosomal recessive)

Identifiers

Type Value
pidENSP00000360158
HGNC9016
UniprotP08F94

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Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0001822
ISS
IEA
Genome Projectkidney development
GO:0006874
IMP
Genome Projectcellular calcium ion homeostasis
GO:0008284
IMP
Genome Projectpositive regulation of cell proliferation
GO:0010824
IMP
IEA
Genome Projectregulation of centrosome duplication
GO:0016337
ISS
Genome Projectsingle organismal cell-cell adhesion
GO:0032006
IMP
Genome Projectregulation of TOR signaling
GO:0032088
IMP
Genome Projectnegative regulation of NF-kappaB transcription factor activity
GO:0042384
ISS
IEA
Genome Projectcilium assembly
GO:0042592
NAS
Genome Projecthomeostatic process
GO:0043066
IMP
Genome Projectnegative regulation of apoptotic process
GO:0051271
ISS
Genome Projectnegative regulation of cellular component movement
GO:0051898
IMP
Genome Projectnegative regulation of protein kinase B signaling
GO:0070372
IMP
Genome Projectregulation of ERK1 and ERK2 cascade

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0004872
NAS
Genome Projectreceptor activity
GO:0005515
IPI
Genome Projectprotein binding

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0005737
IDA
IEA
Genome Projectcytoplasm
GO:0005813
IDA
Genome Projectcentrosome
GO:0005815
IEA
Genome Projectmicrotubule organizing center
GO:0005819
IEA
Genome Projectspindle
GO:0005856
IEA
Genome Projectcytoskeleton
GO:0005929
IEA
Genome Projectcilium
GO:0016020
IEA
Genome Projectmembrane
GO:0016021
IEA
Genome Projectintegral component of membrane
GO:0016324
IDA
Genome Projectapical plasma membrane
GO:0031362
TAS
Genome Projectanchored component of external side of plasma membrane
GO:0036064
IDA
Genome Projectciliary basal body
GO:0042995
IEA
Genome Projectcell projection
GO:0048471
IDA
Genome Projectperinuclear region of cytoplasm
GO:0070062
IDA
Genome Projectextracellular exosome
GO:0072372
IDA
Genome Projectprimary cilium
GO:0072686
IDA
Genome Projectmitotic spindle

Color Legend

Experimental Evidence
Computational Reviewed Evidence
Electronic Evidence
GO Sources:   Primary     Orthology     Homology  
Show redundant parents:  
 
InterPro Description
IPR002909IPT domain
IPR006626Parallel beta-helix repeat
IPR011050Pectin lyase fold/virulence factor
IPR012334Pectin lyase fold
IPR013783Immunoglobulin-like fold
IPR014756Immunoglobulin E-set
IPR019316G8 domain
IPR028839Fibrocystin

No MapMan annotations defined for this gene.