Version 5.4
Homo sapiens Gene: CIRH1A
Summary
InnateDB Gene IDBG-38880.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CIRH1A
Gene Name cirrhosis, autosomal recessive 1A (cirhin)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000141076
Encoded Proteins
IDBP-38882
cirrhosis, autosomal recessive 1A (cirhin)
IDBP-38884
cirrhosis, autosomal recessive 1A (cirhin)
IDBP-748937
IDBP-751206
IDBP-751227
IDBP-748579
IDBP-746678
IDBP-750033
IDBP-751761
IDBP-752256
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:69131291-69231130
Strand Forward strand
Band q22.1
Transcripts
ENST00000314423 ENSP00000327179
ENST00000352319 ENSP00000339164
ENST00000567235 ENSP00000455269
ENST00000567460 ENSP00000463109
ENST00000569615
ENST00000569800
ENST00000563094 ENSP00000456622
ENST00000569014
ENST00000566227 ENSP00000462497
ENST00000564408
ENST00000567500 ENSP00000456317
ENST00000567015
ENST00000568448 ENSP00000462451
ENST00000563299 ENSP00000461517
ENST00000562237 ENSP00000456709
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0030490 maturation of SSU-rRNA
Cellular Component
GO:0005730 nucleolus
GO:0034455 t-UTP complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000041438
View Gene Order
ENSBTAG00000006347
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.461113 Hs.713580 Hs.713853
RefSeq NM_032830 XM_005256204 XM_005256205
HUGO
OMIM
CCDS CCDS10872
HPRD 08468
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca