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CIRH1A cirrhosis, autosomal recessive 1A (cirhin) [ Homo sapiens (human) ]

Gene ID: 84916, updated on 19-Jul-2014
Official Symbol
CIRH1Aprovided by HGNC
Official Full Name
cirrhosis, autosomal recessive 1A (cirhin)provided by HGNC
Primary source
HGNC:1983
See related
Ensembl:ENSG00000141076; HPRD:08468; MIM:607456; Vega:OTTHUMG00000137570
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NAIC; UTP4; CIRHIN; TEX292
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]
See CIRH1A in Epigenomics
Location:
16q22.1
Exon count :
18
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (69132596..69169034)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (69166499..69202937)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene transport and golgi organization 6 homolog (Drosophila) Neighboring gene ribosomal protein S2 pseudogene 45 Neighboring gene hyaluronan synthase 3 Neighboring gene CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae) Neighboring gene syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) Neighboring gene zinc finger CCHC-type and RNA binding motif 1 pseudogene Neighboring gene vacuolar protein sorting 4 homolog A (S. cerevisiae)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Ribosome biogenesis in eukaryotes, organism-specific biosystem (from KEGG)
    Ribosome biogenesis in eukaryotes, organism-specific biosystemRibosomes are the cellular factories responsible for making proteins. In eukaryotes, ribosome biogenesis involves the production and correct assembly of four rRNAs and about 80 ribosomal proteins. It...
  • Ribosome biogenesis in eukaryotes, conserved biosystem (from KEGG)
    Ribosome biogenesis in eukaryotes, conserved biosystemRibosomes are the cellular factories responsible for making proteins. In eukaryotes, ribosome biogenesis involves the production and correct assembly of four rRNAs and about 80 ribosomal proteins. It...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
maturation of SSU-rRNA IMP
Inferred from Mutant Phenotype
more info
 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
t-UTP complex IDA
Inferred from Direct Assay
more info
 
Preferred Names
cirhin
Names
cirhin
testis expressed gene 292
UTP4, small subunit (SSU) processome component, homolog

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008278.1 

    Range
    5001..41439
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032830.2NP_116219.2  cirhin

    See proteins identical to NP_116219.2

    Status: REVIEWED

    Source sequence(s)
    BC009348, CA430627, DA277545
    Consensus CDS
    CCDS10872.1
    UniProtKB/Swiss-Prot
    Q969X6
    Related
    ENSP00000327179, OTTHUMP00000174891, ENST00000314423, OTTHUMT00000268950
    Conserved Domains (2) summary
    COG2319
    Location:17324
    Blast Score: 221
    COG2319; FOG: WD40 repeat [General function prediction only]
    cd00200
    Location:16306
    Blast Score: 300
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 ALT_REF_LOCI_1

Genomic

  1. NW_003315946.1 

    Range
    60802..86658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    69132596..69169034
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256204.1XP_005256261.1  

    See proteins identical to XP_005256261.1

    Conserved Domains (2) summary
    COG2319
    Location:11436
    Blast Score: 189
    COG2319; FOG: WD40 repeat [General function prediction only]
    cd00200
    Location:3223
    Blast Score: 201
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. XM_005256205.1XP_005256262.1  

    Conserved Domains (2) summary
    COG2319
    Location:16338
    Blast Score: 129
    COG2319; FOG: WD40 repeat [General function prediction only]
    cd00200
    Location:17369
    Blast Score: 134
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    55039236..55075658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    70574574..70611013
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)