ID:CIR1A_HUMAN DESCRIPTION: RecName: Full=Cirhin; 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. SUBUNIT: Interacts with HIVEP1. SUBCELLULAR LOCATION: Nucleus, nucleolus. DISEASE: Defects in CIRH1A are the cause of North American Indian childhood cirrhosis (NAIC) [MIM:604901]. NAIC is a 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. SIMILARITY: Contains 11 WD repeats. SEQUENCE CAUTION: Sequence=BAB55100.1; Type=Erroneous initiation; Sequence=BAB55116.1; Type=Erroneous initiation; Sequence=BAB55212.1; Type=Erroneous initiation; Sequence=BAB85574.2; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CIRH1A";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q969X6
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Protein Q969X6 (Reactome details) participates in the following event(s):
R-HSA-6790906 EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248 R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol R-HSA-6790901 rRNA modification in the nucleus and cytosol R-HSA-8868773 rRNA processing in the nucleus and cytosol R-HSA-72312 rRNA processing R-HSA-8953854 Metabolism of RNA
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
