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Aliases for CIRH1A Gene

Aliases for CIRH1A Gene

  • Cirrhosis, Autosomal Recessive 1A (Cirhin) 2 3
  • UTP4 2 3 4
  • UTP4, Small Subunit (SSU) Processome Component, Homolog 3
  • Small Subunit (SSU) Processome Component 2
  • Testis Expressed Gene 292 3
  • Homolog (Yeast) 2
  • KIAA1988 4
  • CIRHIN 3
  • TEX292 3
  • NAIC 3

External Ids for CIRH1A Gene

Previous GeneCards Identifiers for CIRH1A Gene

  • GC16U990125
  • GC16P069544
  • GC16P068901
  • GC16P068942
  • GC16P067724
  • GC16P069166
  • GC16P055039

Summaries for CIRH1A Gene

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 hereditary north american indian childhood cirrhosis and cirrhosis, north american indian childhood type. Among its related pathways are Ribosome biogenesis in eukaryotes. GO annotations related to this gene include poly(A) RNA binding.

UniProtKB/Swiss-Prot for CIRH1A Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CIRH1A Gene

Genomics for CIRH1A Gene

Regulatory Elements for CIRH1A Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CIRH1A Gene

Chromosome:
16
Start:
69,131,291 bp from pter
End:
69,231,130 bp from pter
Size:
99,840 bases
Orientation:
Plus strand

Genomic View for CIRH1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CIRH1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CIRH1A Gene

Proteins for CIRH1A Gene

  • Protein details for CIRH1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969X6-CIR1A_HUMAN
    Recommended name:
    Cirhin
    Protein Accession:
    Q969X6
    Secondary Accessions:
    • Q8NCD9
    • Q8TF14
    • Q96SP0
    • Q96SR9
    • Q96SZ9
    • Q96T13
    • Q9BWK6

    Protein attributes for CIRH1A Gene

    Size:
    686 amino acids
    Molecular mass:
    76890 Da
    Quaternary structure:
    • Interacts with HIVEP1. Forms a complex with NOL11, UTP15, WDR43 and WDR75; within this complex, directly interacts with NOL11.
    SequenceCaution:
    • Sequence=BAB55100.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55116.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55212.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB85574.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CIRH1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CIRH1A Gene

Proteomics data for CIRH1A Gene at MOPED

Post-translational modifications for CIRH1A Gene

  • Ubiquitination at Lys 53, Lys 134, Lys 321, Lys 569, and Lys 617
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CIRH1A Gene

Domains & Families for CIRH1A Gene

Protein Domains for CIRH1A Gene

Suggested Antigen Peptide Sequences for CIRH1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q969X6

UniProtKB/Swiss-Prot:

CIR1A_HUMAN :
  • Contains 14 WD repeats.
Similarity:
  • Contains 14 WD repeats.
genes like me logo Genes that share domains with CIRH1A: view

No data available for Gene Families for CIRH1A Gene

Function for CIRH1A Gene

Molecular function for CIRH1A Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for CIRH1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19732766
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with CIRH1A: view
genes like me logo Genes that share phenotypes with CIRH1A: view

Animal Model Products

miRNA for CIRH1A Gene

miRTarBase miRNAs that target CIRH1A

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CIRH1A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CIRH1A Gene

Localization for CIRH1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CIRH1A Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CIRH1A Gene COMPARTMENTS Subcellular localization image for CIRH1A gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for CIRH1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA 16225863
GO:0034455 t-UTP complex IDA 22916032
genes like me logo Genes that share ontologies with CIRH1A: view

Pathways & Interactions for CIRH1A Gene

genes like me logo Genes that share pathways with CIRH1A: view

Pathways by source for CIRH1A Gene

1 KEGG pathway for CIRH1A Gene

Gene Ontology (GO) - Biological Process for CIRH1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IDA 19732766
GO:0030490 maturation of SSU-rRNA IMP 22916032
genes like me logo Genes that share ontologies with CIRH1A: view

No data available for SIGNOR curated interactions for CIRH1A Gene

Drugs & Compounds for CIRH1A Gene

No Compound Related Data Available

Transcripts for CIRH1A Gene

Unigene Clusters for CIRH1A Gene

Cirrhosis, autosomal recessive 1A (cirhin):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CIRH1A

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CIRH1A Gene

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: - - - -
SP6: - - -
SP7: - - - - - - - - -
SP8: - - - - - -
SP9: - - - - - - -
SP10: - - -
SP11:
SP12: - -
SP13: -
SP14: - - - - -
SP15: -

ExUns: 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19
SP1: -
SP2: -
SP3:
SP4: - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for CIRH1A Gene

GeneLoc Exon Structure for
CIRH1A
ECgene alternative splicing isoforms for
CIRH1A

Expression for CIRH1A Gene

mRNA expression in normal human tissues for CIRH1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CIRH1A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.8), Platelet (10.6), CD8 Tcells (8.6), Liver (6.6), and CD4 Tcells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CIRH1A Gene



SOURCE GeneReport for Unigene cluster for CIRH1A Gene Hs.461113

genes like me logo Genes that share expression patterns with CIRH1A: view

Protein tissue co-expression partners for CIRH1A Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CIRH1A Gene

Orthologs for CIRH1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CIRH1A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CIRH1A 35
  • 89.21 (n)
  • 91.69 (a)
CIRH1A 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CIRH1A 35
  • 90.52 (n)
  • 92.86 (a)
-- 36
  • 98 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cirh1a 35
  • 87.9 (n)
  • 89.94 (a)
Cirh1a 16
Cirh1a 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CIRH1A 35
  • 99.76 (n)
  • 99.71 (a)
CIRH1A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cirh1a 35
  • 88.39 (n)
  • 91.25 (a)
oppossum
(Monodelphis domestica)
Mammalia CIRH1A 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 66 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
chicken
(Gallus gallus)
Aves CIRH1A 35
  • 63.8 (n)
  • 61.22 (a)
CIRH1A 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CIRH1A 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cirh1a 35
  • 60.11 (n)
  • 55.39 (a)
Str.8218 35
African clawed frog
(Xenopus laevis)
Amphibia MGC52698 35
zebrafish
(Danio rerio)
Actinopterygii cirh1a 35
  • 58.35 (n)
  • 53.72 (a)
wufi09g10 35
cirh1a 36
  • 53 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006092 35
  • 40.82 (n)
  • 29.14 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(3)72Dn 35
  • 41.5 (n)
  • 26.48 (a)
l(3)72Dn 36
  • 25 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR367C 35
  • 40.99 (n)
  • 27.66 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D13222g 35
  • 40.46 (n)
  • 27.38 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTP4 35
  • 41.14 (n)
  • 28.62 (a)
UTP4 36
  • 21 (a)
OneToOne
UTP4 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G07410 35
  • 41.72 (n)
  • 30.57 (a)
rice
(Oryza sativa)
Liliopsida Os03g0735100 35
  • 42.82 (n)
  • 28.72 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes utp4 35
  • 43.38 (n)
  • 33.38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToOne
Species with no ortholog for CIRH1A:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CIRH1A Gene

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

Paralogs for CIRH1A Gene

No data available for Paralogs for CIRH1A Gene

Variants for CIRH1A Gene

Sequence variations from dbSNP and Humsavar for CIRH1A Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs3217261 -- 69,137,728(-) CACAC(-/AC)CCCCC intron-variant
rs3815821 -- 69,136,665(-) CATTA(C/T)CACAA intron-variant
rs4419053 -- 69,163,162(+) CATCG(A/C)TCATT reference, missense
rs9940899 -- 69,136,024(+) aactc(C/T)gtctc intron-variant
rs11541983 -- 69,136,780(+) ATGGC(A/G)AGATT missense, reference, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for CIRH1A Gene

Variant ID Type Subtype PubMed ID
nsv1850 CNV Loss 18451855
nsv1851 CNV Insertion 18451855

Variation tolerance for CIRH1A Gene

Residual Variation Intolerance Score: 14.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.31; 53.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CIRH1A Gene

HapMap Linkage Disequilibrium report
CIRH1A
Human Gene Mutation Database (HGMD)
CIRH1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CIRH1A Gene

Disorders for CIRH1A Gene

MalaCards: The human disease database

(7) MalaCards diseases for CIRH1A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hereditary north american indian childhood cirrhosis
cirrhosis, north american indian childhood type
  • naic
bowen-conradi syndrome
  • bowen hutterite syndrome
neonatal jaundice
  • neonatal hyperbilirubinemia
intrahepatic cholestasis
  • intrahepatic cholestasis of pregnancy
- elite association

UniProtKB/Swiss-Prot

CIR1A_HUMAN
  • 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:0000269 PubMed:12417987}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CIRH1A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CIRH1A
genes like me logo Genes that share disorders with CIRH1A: view

No data available for Genatlas for CIRH1A Gene

Publications for CIRH1A Gene

  1. The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis. (PMID: 20385600) Freed E.F. … Baserga S.J. (Nucleic Acids Res. 2010) 2 67
  2. Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1. (PMID: 19732766) Yu B. … Richter A. (Exp. Cell Res. 2009) 23 67
  3. [North American Indian childhood cirrhosis (NAIC)]. (PMID: 18021715) Richter A. … Rasquin A. (Med Sci (Paris) 2007) 23 67
  4. Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis. (PMID: 16225863) Yu B. … Richter A. (Exp. Cell Res. 2005) 23 67
  5. A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. (PMID: 12417987) Chagnon P. … Richter A. (Am. J. Hum. Genet. 2002) 23 67

Products for CIRH1A Gene

Sources for CIRH1A Gene

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