Gene: ENSG00000130826 (Homo sapiens)

Overview top

Gene Identifier
ENSG00000130826
Transcript Identifier
ENST00000369550
Gene Type
Coding gene
Location
X : 154762966-154776867 : positive

Family Information

Homologous gene family
HOM03P000596
(86 genes in 39 species)
specific family
Orthologous gene family
ORTHO03P000702
(44 genes in 38 species)
specific family

Descriptions

gene_descr
dyskeratosis congenita 1, dyskerin

Identifiers

Type Value
pidENSP00000358563
HGNC2890
UniprotO60832

Toolbox

Explore

Create

View

Browse

 

Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0000495
IBA
Genome Projectbox H/ACA snoRNA 3'-end processing
GO:0000723
TAS
Genome Projecttelomere maintenance
GO:0001522
IEA
Genome Projectpseudouridine synthesis
GO:0006364
TAS, IEA
Genome ProjectrRNA processing
GO:0006396
TAS, IEA
Genome ProjectRNA processing
GO:0007004
TAS
Genome Projecttelomere maintenance via telomerase
GO:0008283
TAS
Genome Projectcell proliferation
GO:0009451
IEA
Genome ProjectRNA modification
GO:0031118
IBA
Genome ProjectrRNA pseudouridine synthesis
GO:0031120
IBA
Genome ProjectsnRNA pseudouridine synthesis
GO:0032212
IEA
Genome Projectpositive regulation of telomere maintenance via telomerase
GO:0033979
IEA
Genome Projectbox H/ACA snoRNA metabolic process
GO:0042254
IEA
Genome Projectribosome biogenesis
GO:0051973
IEA
Genome Projectpositive regulation of telomerase activity
GO:1990481
IBA
Genome ProjectmRNA pseudouridine synthesis

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0003720
IDA
Genome Projecttelomerase activity
GO:0003723
TAS, IEA
Genome ProjectRNA binding
GO:0005515
IPI
Genome Projectprotein binding
GO:0009982
IBA
IEA
Genome Projectpseudouridine synthase activity
GO:0016853
IEA
Genome Projectisomerase activity
GO:0044822
IDA
Genome Projectpoly(A) RNA binding

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0005634
IDA
IEA
Genome Projectnucleus
GO:0005654
IDA
TAS
Genome Projectnucleoplasm
GO:0005697
IDA
Genome Projecttelomerase holoenzyme complex
GO:0005730
IDA
TAS, IEA
Genome Projectnucleolus
GO:0005737
IEA
Genome Projectcytoplasm
GO:0015030
IEA
Genome ProjectCajal body
GO:0030529
IEA
Genome Projectintracellular ribonucleoprotein complex
GO:0031429
IBA
Genome Projectbox H/ACA snoRNP complex

Color Legend

Experimental Evidence
Computational Reviewed Evidence
Electronic Evidence
GO Sources:   Primary     Orthology     Homology  
Show redundant parents:  
 
InterPro Description
IPR002478PUA domain
IPR002501Pseudouridine synthase II, N-terminal
IPR004521Uncharacterised domain CHP00451
IPR004802tRNA pseudouridine synthase B family
IPR012960Dyskerin-like
IPR015947PUA-like domain
IPR020103Pseudouridine synthase, catalytic domain

No MapMan annotations defined for this gene.