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

    Gene ID: 84916, updated on 9-Jun-2013
    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]
    Location :
    16q22.1
    Sequence :
    Chromosome: 16; NC_000016.9 (69166499..69202937)
    See CIRH1A in Epigenomics, MapViewer

    Chromosome 16 - NC_000016.9Genomic 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)

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. Povlsen LK, et al. Nat Cell Biol, 2012 Oct. PMID 23000965.
    2. A census of human soluble protein complexes. Havugimana PC, et al. Cell, 2012 Aug 31. PMID 22939629.
    3. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. Aichem A, et al. J Cell Sci, 2012 Oct 1. PMID 22797925.
    4. Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription. Tsai YC, et al. Mol Cell Proteomics, 2012 May. PMID 22586326.
    5. Global identification of modular cullin-RING ligase substrates. Emanuele MJ, et al. Cell, 2011 Oct 14. PMID 21963094.

    See all (27) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Cirhin is a transcriptional regulatory factor of this NF-kappaB sequence and could be a participant in the regulation of other genes with NF-kappaB responsive elements.
      Title: Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1.
    2. A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis
      Title: A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.
    3. Cirhin is a nucleolar protein and the R565W mutation, for which all North American Indian childhood cirrhosis patients are homozygous, has no effect on subcellular localization.
      Title: Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis.
    Submit: New GeneRIF Correction

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:124353 BioGRID:106848 APP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:124353 BioGRID:119021 GLTSCR2    BioGRID  PubMed Co-fractionation 
    BioGRID:124353 BioGRID:114995 ISG15    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124353 BioGRID:111606 PRNP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:124353 BioGRID:119602 SIRT7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124353 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124353 BioGRID:115791 UBD    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124353 BioGRID:123907 UTP15    BioGRID  PubMed Co-fractionation 
    • 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...

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ14728, FLJ17146, KIAA1988

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
    		  
    regulation of transcription, DNA-dependent IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_032830.2 → NP_116219.2  cirhin

      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:17 – 349
      Blast Score: 161
      COG2319; FOG: WD40 repeat [General function prediction only]
      cl02567
      Location:16 – 306
      Blast Score: 295
      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 104

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

    Reference GRCh37.p10 PATCHES

    Genomic

    1. NW_003315946.1 Reference GRCh37.p10 PATCHES

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000016.9 Reference GRCh37.p10 Primary Assembly

      Range
      69166499..69202937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000148.1 Alternate HuRef

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

    Alternate CHM1_1.0

    Genomic

    1. NC_018927.1 Alternate CHM1_1.0

      Range
      70173046..70209485
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01025514.1 (26126..32677) None
    genomic ABBA01025515.1 None
    genomic ABBA01025516.1 None
    genomic AC009027.10 None
    genomic AC009131.6 (55672..84540) None
    genomic AC208009.3 None
    genomic AMYH01007765.1 (101..36540) None
    genomic CH471092.1 EAW83251.1
      EAW83252.1
      EAW83253.1
      EAW83254.1
      EAW83255.1
      EAW83256.1
      EAW83257.1
    mRNA AB075868.2 BAB85574.2
    mRNA AK027419.1 BAB55100.1
    mRNA AK027445.1 BAB55116.1
    mRNA AK027584.1 BAB55212.1
    mRNA AK027634.1 BAB55251.1
    mRNA AK027675.1 BAB55287.1
    mRNA AK074795.1 BAC11214.1
    mRNA AK310104.1 None
    mRNA BC000167.2 AAH00167.1
    mRNA BC009348.2 AAH09348.1
    mRNA BX647265.1 None
    mRNA CA430627.1 None
    mRNA DA277545.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969X6.1 GenPept UniProtKB/Swiss-Prot:Q969X6

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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      Supplemental Content

      Table of contents

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      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
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        GTR associated with a gene
      • HomoloGene
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      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
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        Related Probe entry
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        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
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        Link to Nucleotide RefSeq RNAs
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        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
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        SNPs linked from GeneView
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        Gene Genotype Report
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        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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