InnateDB Protein
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IDBP-38884.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CIRH1A
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Protein Name
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cirrhosis, autosomal recessive 1A (cirhin)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000339164
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InnateDB Gene
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IDBG-38880 (CIRH1A)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus, nucleolus {ECO:0000269PubMed:12429849, ECO:0000269PubMed:16225863}.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
14
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001680
WD40 repeat
IPR011047
Quinonprotein alcohol dehydrogenase-like superfamily
IPR017986
WD40-repeat-containing domain
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PFAM |
PF00400
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PRINTS |
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PIRSF |
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SMART |
SM00320
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TIGRFAMs |
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Modification |
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SwissProt |
Q969X6
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PhosphoSite |
PhosphoSite-Q969X6
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TrEMBL |
J3KTR0
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UniProt Splice Variant |
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Entrez Gene |
84916
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UniGene |
Hs.713853
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RefSeq |
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HUGO |
HGNC:1983
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OMIM |
607456
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CCDS |
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HPRD |
08468
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IMGT |
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EMBL |
AB075868
AC009027
AC009131
AC026474
AK027419
AK027445
AK027584
AK027634
AK027675
AK074795
BC000167
BC009348
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GenPept |
AAH00167
AAH09348
BAB55100
BAB55116
BAB55212
BAB55251
BAB55287
BAB85574
BAC11214
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