Version 5.4
Mus musculus Gene: Cirh1a
Summary
InnateDB Gene IDBG-190215.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Cirh1a
Gene Name cirrhosis, autosomal recessive 1A (human)
Synonyms Cirhin; Naic; Teg-292; Tex292
Species Mus musculus
Ensembl Gene ENSMUSG00000041438
Encoded Proteins
IDBP-190219
cirrhosis, autosomal recessive 1A (human)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000141076:
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 8:106893640-106923093
Strand Forward strand
Band D3
Transcripts
ENSMUST00000047629 ENSMUSP00000048377
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [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
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000141076
View Gene Order
ENSBTAG00000006347
Not yet available
Cross-References
SwissProt Q8R2N2
TrEMBL
UniProt Splice Variant
Entrez Gene 21771
UniGene Mm.10665 Mm.402485
RefSeq NM_011574 XM_006530842
OMIM
CCDS CCDS52664
HPRD
IMGT
MGI ID MGI:1096573
MGI Symbol Cirh1a
EMBL AK173318 BC018262 BC027399 BC068113 X80433 X80434
GenPept AAH18262 AAH27399 AAH68113 BAD32596 CAA56628 CAA56629
RNA Seq Atlas 21771

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