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CIRH1A Gene

protein-coding   GIFtS: 59
GCID: GC16P069166

Cirrhosis, Autosomal Recessive 1A (Cirhin)

  See CIRH1A-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cirrhosis, Autosomal Recessive 1A (Cirhin)1 2     Small Subunit (SSU) Processome Component1
UTP41 2 3     CIRHIN2
NAIC2 5     cirhin2
TEX2922 5     Testis Expressed Gene 2922
KIAA19883 5     UTP4, Small Subunit (SSU) Processome Component, Homolog2
Homolog (Yeast)1     

External Ids:    HGNC: 19831   Entrez Gene: 849162   Ensembl: ENSG000001410767   OMIM: 6074565   UniProtKB: Q969X63   

Export aliases for CIRH1A gene to outside databases

Previous GC identifers: GC16U990125 GC16P069544 GC16P068901 GC16P068942 GC16P067724 GC16P055039


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CIRH1A Gene:
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)

GeneCards Summary for CIRH1A Gene:
CIRH1A (cirrhosis, autosomal recessive 1A (cirhin)) is a protein-coding gene. Diseases associated with CIRH1A include north american indian childhood cirrhosis, and neonatal jaundice.

UniProtKB/Swiss-Prot: CIR1A_HUMAN, Q969X6
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

Gene Wiki entry for CIRH1A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CIRH1A gene promoter:
         E2F-4   E2F-3a   E2F-5   Nkx2-5   E2F-2   RORalpha1   AREB6   E2F   E2F-1   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCIRH1A promoter sequence
   Search Chromatin IP Primers for CIRH1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CIRH1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22

CIRH1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CIRH1A gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P069166:  view genomic region     (about GC identifiers)

Start:
69,165,194 bp from pter      End:
69,265,033 bp from pter
Size:
99,840 bases      Orientation:
plus strand

1 alternative location:
Chr16-,NW_003315946 60,802-86,658     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CIR1A_HUMAN, Q969X6 (See protein sequence)
Recommended Name: Cirhin  
Size: 686 amino acids; 76890 Da
Subunit: Interacts with HIVEP1. Forms a complex with NOL11, UTP15, WDR43 and WDR75; within this complex, directly
interacts with NOL11
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;
Secondary accessions: Q8NCD9 Q8TF14 Q96SP0 Q96SR9 Q96SZ9 Q96T13 Q9BWK6
Alternative splicing: 3 isoforms:  Q969X6-1   Q969X6-2   Q969X6-3   (May be due to intron retention)

Explore the universe of human proteins at neXtProt for CIRH1A: NX_Q969X6

Explore proteomics data for CIRH1A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys53, Lys134, Lys321, Lys569, Lys617
  • Modification sites at PhosphoSitePlus

  • See CIRH1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_116219.2  
    ENSEMBL proteins: 
     ENSP00000461517   ENSP00000327179   ENSP00000456709   ENSP00000463109   ENSP00000462497  
     ENSP00000339164   ENSP00000456622   ENSP00000455269   ENSP00000462451   ENSP00000456317  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    3 InterPro protein domains:
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q969X6

    ProtoNet protein and cluster: Q969X6

    UniProtKB/Swiss-Prot: CIR1A_HUMAN, Q969X6
    Similarity: Contains 11 WD repeats


    Find genes that share domains with CIRH1A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CIR1A_HUMAN, Q969X6
    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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI19732766
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with CIRH1A           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for CIRH1A:
     Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa  Nuclear 40S maturation defects  Nucleolar pre-40S maturation d 
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CIRH1A
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    miRNA
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    miRTarBase miRNAs that target CIRH1A:
    hsa-mir-100-5p (MIRT048515), hsa-mir-106b-3p (MIRT038574), hsa-mir-455-3p (MIRT037816), hsa-mir-16-5p (MIRT031534), hsa-let-7a-5p (MIRT052372), hsa-mir-7-1-3p (MIRT038680), hsa-mir-99a-5p (MIRT048617)

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CIRH1A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CIR1A_HUMAN, Q969X6: Nucleus, nucleolus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion2
    peroxisome2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IDA16225863
    GO:0034455t-UTP complex IDA--

    Find genes that share ontologies with CIRH1A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CIRH1A About    
    See pathways by source

    SuperPathContained pathways About
    1Ribosome biogenesis in eukaryotes
    Ribosome biogenesis in eukaryotes


    Find genes that share SuperPaths with CIRH1A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for CIRH1A):
        Ribosome biogenesis in eukaryotes

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CIRH1A
    Interactions:

        Search GeneGlobe Interaction Network for CIRH1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CIRH1A (Q969X61, 3 ENSP000003271794) via UniProtKB, MINT, STRING, and/or I2D (see all 173)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IDA19732766
    GO:0030490maturation of SSU-rRNA IMP--

    Find genes that share ontologies with CIRH1A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CIRH1A (CIR1A)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CIRH1A gene: 
    NM_032830.2  

    Unigene Cluster for CIRH1A:

    Cirrhosis, autosomal recessive 1A (cirhin)
    Hs.461113  [show with all ESTs]
    Unigene Representative Sequence: NM_032830
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000563299 ENST00000314423(uc002ews.4 uc002ewt.4 uc010cfi.3)
    ENST00000562237 ENST00000567460 ENST00000566227 ENST00000352319(uc010cfj.1)
    ENST00000563094(uc002ewr.2) ENST00000569800 ENST00000567235 ENST00000568448
    ENST00000567015 ENST00000569014 ENST00000564408 ENST00000569615 ENST00000567500
    ENST00000567287
    miRNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CIRH1A
      QuantiTect SYBR Green Assays in human, mouse, rat CIRH1A
      QuantiFast Probe-based Assays in human, mouse, rat CIRH1A

    Additional mRNA sequence: 

    AK027419.1 AK027445.1 AK027634.1 AK027675.1 AK074795.1 BC000167.2 BC009348.2 BX647265.1 

    23 DOTS entries:

    DT.455881  DT.100816966  DT.75169114  DT.100029204  DT.95196197  DT.100816961  DT.100816959  DT.100816967 
    DT.120681285  DT.91653679  DT.100029205  DT.120681024  DT.120681025  DT.102834104  DT.120681130  DT.120681282 
    DT.100816960  DT.120680968  DT.120681093  DT.120681208  DT.75123809  DT.95235438  DT.99983411 

    Selected AceView cDNA sequences (see all 304):

    NM_032830 CA427372 CA443350 BE206966 BQ061771 BG289589 BM831421 CB242045 
    BU188216 H98739 BM785963 AB075868 BM790681 AI765878 AA643015 AW886509 
    BQ940750 AI199474 CB119481 AI733190 BU846189 AI754487 CA430712 CA443840 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CIRH1A (see all 15)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10 ^ 11 ^
    SP1:                                      -           -                             -     -                 -                                                   
    SP2:                                                  -                             -     -                 -                                                   
    SP3:                                                  -                             -     -                 -                                                   
    SP4:                                                                                -     -                 -                                                   
    SP5:                                      -                                         -     -                 -                                                   

    ExUns: 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19
    SP1:                                      -               
    SP2:                                      -               
    SP3:                                                      
    SP4:  -     -     -                       -               
    SP5:                                                      


    ECgene alternative splicing isoforms for CIRH1A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CIRH1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAATAAAAC
    CIRH1A Expression
    About this image


    CIRH1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Kidney (Urinary System)
    CIRH1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CIRH1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.461113
        Custom PCR Arrays for CIRH1A
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CIRH1A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CIRH1A gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cirh1a1 , 5 cirrhosis, autosomal recessive 1A (human)1, 5 87.9(n)1
    89.94(a)1
      8 (53.32 cM)5
    217711  NM_011574.21  NP_035704.21 
     1068936405 
    chicken
    (Gallus gallus)
    Aves CIRH1A1 cirrhosis, autosomal recessive 1A (cirhin) 63.8(n)
    61.22(a)
      769632  XM_004944334.1  XP_004944391.1 
    lizard
    (Anolis carolinensis)
    Reptilia CIRH1A6
    cirrhosis, autosomal recessive 1A (cirhin)
    61(a)
    1 ↔ 1
    GL343914.1(23-9710)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC526982 similar to testis expressed gene 292 74.13(n)    BC042339.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi09g102 Transcribed sequence with weak similarity to protein more 75.21(n)    CD760336.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(3)72Dn1 lethal (3) 72Dn 41.5(n)
    26.48(a)
      39774  NM_001275001.1  NP_001261930.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UTP4(YDR324C)4
    UTP41
    Subunit of U3-containing 90S preribosome and Small more4
    UTP41
    41.14(n)1
    28.62(a)1
      4(1116763-1114433)4
    8519241, 4  NP_010611.31  NP_010611.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G074101 AT4G07410 41.72(n)
    30.57(a)
      826172  NM_116813.3  NP_567317.2 
    rice
    (Oryza sativa)
    Liliopsida Os03g07351001 Os03g0735100 42.82(n)
    28.72(a)
      4334021  NM_001057720.2  NP_001051185.2 


    ENSEMBL Gene Tree for CIRH1A (if available)
    TreeFam Gene Tree for CIRH1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CIRH1A (see all 860)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1194659991,2,,4
    CNorth American Indian childhood cirrhosis (NAIC)4 pathogenic170205837(+) GGAGCC/TGGACT 2 R W mis11Minor allele frequency- T:0.00EU 1323
    rs105005481,2
    C,F,H--55046884(+) ATGGGC/TTTCTG 1 -- int134Minor allele frequency- T:0.09NS NA EA CSA WA 3015
    rs1153041501,2
    C,F--55052394(-) TTTCCT/CTTCTG 1 -- int11Minor allele frequency- C:0.02WA 118
    rs1171501181,2
    C,F--55058476(-) GCTCTA/GTTCTG 1 -- int11Minor allele frequency- G:0.04EA 120
    rs118595571,2
    C,F,H--55062299(+) TTCTTG/TGATTT 1 -- int13Minor allele frequency- T:0.11NA WA 124
    rs1147473111,2
    C,F--55065679(-) TTGTCC/TGTAAC 1 -- int11Minor allele frequency- T:0.07WA 118
    rs610787501,2
    C--55069344(+) AAAAA-/AGAAAA 1 -- int12Minor allele frequency- A:0.00NA CSA 4
    rs721060091,2
    C--55071215(+) ATATA-/TATATAT 1 -- int10--------
    rs792950661,2
    C,F--55073197(+) GGTGTC/TAGTGA 1 -- int11Minor allele frequency- T:0.08WA 118
    rs358375771,2
    C--55074464(+) TCTAC-/AAAAAA 1 -- int12Minor allele frequency- A:0.00NA CSA 4

    HapMap Linkage Disequilibrium report for CIRH1A (69165194 - 69265033 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CIRH1A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1851CNV Insertion18451855
    nsv1850CNV Loss18451855

    Human Gene Mutation Database (HGMD): CIRH1A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CIRH1A
    DNA2.0 Custom Variant and Variant Library Synthesis for CIRH1A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607456   
    OMIM disorders: 604901  
    UniProtKB/Swiss-Prot: CIR1A_HUMAN, Q969X6
  • 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. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 4 diseases for CIRH1A:    
    About MalaCards
    north american indian childhood cirrhosis    neonatal jaundice    intrahepatic cholestasis    cholestasis

    1 disease from the University of Copenhagen DISEASES database for CIRH1A:
    Cholestasis

    Find genes that share disorders with CIRH1A           About GenesLikeMe


    Export disorders for CIRH1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CIRH1A gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with CIRH1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis. (PubMed id 16225863)1, 2, 9 Yu B.... Richter A. (Exp. Cell Res. 2005)
    2. A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. (PubMed id 12417987)1, 2, 9 Chagnon P.... Richter A. (Am. J. Hum. Genet. 2002)
    3. Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1. (PubMed id 19732766)1, 2, 9 Yu B.... Richter A. (Exp. Cell Res. 2009)
    4. The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis. (PubMed id 20385600)1, 3 Freed E.F. and Baserga S.J. (Nucleic Acids Res. 2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Functional proteomic analysis of human nucleolus. (PubMed id 12429849)1, 2 Scherl A.... Diaz J.-J. (Mol. Biol. Cell 2002)
    8. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PubMed id 11853319)1, 2 Nagase T.... Ohara O. (DNA Res. 2001)
    9. Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype. (PubMed id 10820129)1, 3 BActard C....Mitchell G.A. (Am. J. Hum. Genet. 2000)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84916 HGNC: 1983 AceView: CIRH1A Ensembl:ENSG00000141076 euGenes: HUgn84916
    ECgene: CIRH1A Kegg: 84916 H-InvDB: CIRH1A

    (According to HUGE)
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    HUGE: KIAA1988

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CIRH1A Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/gtr/tests/205309/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CIRH1A gene:
    Search GeneIP for patents involving CIRH1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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