InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CIRH1A

Summary

InnateDB Protein

IDBP-38882.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CIRH1A

Protein Name

cirrhosis, autosomal recessive 1A (cirhin)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000327179

InnateDB Gene

IDBG-38880 (CIRH1A)

Protein Structure

UniProt Annotation

Function

May be a transcriptional regulator. Acts as a positive regulator of HIVEP1 which specifically binds to the DNA sequence 5'-GGGACTTTCC-3' found in enhancer elements of numerous viral promoters such as those of HIV-1, SV40, or CMV. Ribosome biogenesis factor involved in small subunit (SSU) pre-rRNA processing at sites A', A0, 1 and 2b. {ECO:0000269PubMed:19732766, ECO:0000269PubMed:22916032}.

Subcellular Localization

Nucleus, nucleolus {ECO:0000269PubMed:12429849, ECO:0000269PubMed:16225863}.

Disease Associations

North American Indian childhood cirrhosis (NAIC) [MIM:604901]: Severe autosomal recessive intrahepatic cholestasis, originally described in Ojibway-Cree children from northwestern Quebec. NAIC typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. Biochemical and histopathological features suggest involvement of the bile ducts rather than of the bile canaliculi. They include elevated gamma glutamyltransferase and alkaline phosphatase levels, and, typically, marked fibrosis around bile ducts. Clinically, NAIC is distinct from other nonsyndromic familial cholestases because of its marked cholangiopathic features and severe degree of fibrosis on liver histology. {ECO:0000269PubMed:12417987}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR001680 WD40 repeat
IPR011047 Quinonprotein alcohol dehydrogenase-like superfamily
IPR017986 WD40-repeat-containing domain

PFAM

PF00400

PRINTS

PIRSF

SMART

SM00320

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q969X6

PhosphoSite

PhosphoSite-Q969X6

TrEMBL

J3KTR0

UniProt Splice Variant

Entrez Gene

84916

UniGene

Hs.713853

RefSeq

NP_116219

HUGO

HGNC:1983

OMIM

607456

CCDS

CCDS10872

HPRD

08468

IMGT

EMBL

AB075868 AC009027 AC009131 AC026474 AK027419 AK027445 AK027584 AK027634 AK027675 AK074795 BC000167 BC009348

GenPept

AAH00167 AAH09348 BAB55100 BAB55116 BAB55212 BAB55251 BAB55287 BAB85574 BAC11214