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Aliases for UTP4 Gene

Aliases for UTP4 Gene

  • UTP4, Small Subunit Processome Component 2 3
  • UTP4 Small Subunit Processome Component 3 4 5
  • Cirrhosis, Autosomal Recessive 1A (Cirhin) 2 3
  • CIRHIN 3 4
  • CIRH1A 3 4
  • UTP4, Small Subunit (SSU) Processome Component, Homolog 3
  • UTP4 Small Subunit (SSU) Processome Component 3
  • Small Subunit (SSU) Processome Component 2
  • Testis Expressed Gene 292 3
  • Homolog (Yeast) 2
  • KIAA1988 4
  • TEX292 3
  • UTP4 2
  • NAIC 3

External Ids for UTP4 Gene

Previous HGNC Symbols for UTP4 Gene

  • CIRH1A

Summaries for UTP4 Gene

Entrez Gene Summary for UTP4 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

GeneCards Summary for UTP4 Gene

UTP4 (UTP4, Small Subunit Processome Component) is a Protein Coding gene. Diseases associated with UTP4 include cirrhosis, north american indian childhood type and hereditary north american indian childhood cirrhosis. Among its related pathways are Gene Expression and Ribosome biogenesis in eukaryotes.

UniProtKB/Swiss-Prot for UTP4 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 UTP4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UTP4 Gene

Genomics for UTP4 Gene

Regulatory Elements for UTP4 Gene

Promoters for UTP4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UTP4 on UCSC Golden Path with GeneCards custom track

Genomic Location for UTP4 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 UTP4 Gene

Genes around UTP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UTP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UTP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UTP4 Gene

Proteins for UTP4 Gene

  • Protein details for UTP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969X6-UTP4_HUMAN
    Recommended name:
    U3 small nucleolar RNA-associated protein 4 homolog
    Protein Accession:
    Q969X6
    Secondary Accessions:
    • Q8NCD9
    • Q8TF14
    • Q96SP0
    • Q96SR9
    • Q96SZ9
    • Q96T13
    • Q9BWK6

    Protein attributes for UTP4 Gene

    Size:
    686 amino acids
    Molecular mass:
    76890 Da
    Quaternary structure:
    • Interacts with HIVEP1 (PubMed:19732766). Forms a complex with NOL11, UTP15, WDR43 and WDR75; within this complex, directly interacts with NOL11, UTP15 and WDR43 (PubMed:22916032, PubMed:24219289).
    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 UTP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UTP4 Gene

Proteomics data for UTP4 Gene at MOPED

Post-translational modifications for UTP4 Gene

  • May be phosphorylated during mitosis; may control the association of this protein with WRD43 and UTP15.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for UTP4 Gene

Domains & Families for UTP4 Gene

Gene Families for UTP4 Gene

Protein Domains for UTP4 Gene

Suggested Antigen Peptide Sequences for UTP4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q969X6

UniProtKB/Swiss-Prot:

UTP4_HUMAN :
  • Contains 14 WD repeats.
Similarity:
  • Contains 14 WD repeats.
genes like me logo Genes that share domains with UTP4: view

Function for UTP4 Gene

Molecular function for UTP4 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.
genes like me logo Genes that share phenotypes with UTP4: view

Human Phenotype Ontology for UTP4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for UTP4 Gene

Localization for UTP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UTP4 Gene

Nucleus, nucleolus. Note=Found predominantly at the fibrillar center. {ECO:0000269 PubMed:24219289}.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for UTP4 Gene

Pathways & Interactions for UTP4 Gene

genes like me logo Genes that share pathways with UTP4: view

Pathways by source for UTP4 Gene

Gene Ontology (GO) - Biological Process for UTP4 Gene

None

No data available for SIGNOR curated interactions for UTP4 Gene

Drugs & Compounds for UTP4 Gene

No Compound Related Data Available

Transcripts for UTP4 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for UTP4 Gene

No ASD Table

Relevant External Links for UTP4 Gene

GeneLoc Exon Structure for
UTP4
ECgene alternative splicing isoforms for
UTP4

Expression for UTP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

genes like me logo Genes that share expression patterns with UTP4: view

In Situ Assay Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for UTP4 Gene

Orthologs for UTP4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UTP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CIRH1A 35
  • 99.76 (n)
  • 99.71 (a)
CIRH1A 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CIRH1A 36
  • 92 (a)
OneToOne
CIRH1A 35
  • 89.21 (n)
  • 91.69 (a)
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 16
Cirh1a 36
  • 90 (a)
OneToOne
Cirh1a 35
  • 87.9 (n)
  • 89.94 (a)
oppossum
(Monodelphis domestica)
Mammalia CIRH1A 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 66 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cirh1a 35
  • 88.39 (n)
  • 91.25 (a)
chicken
(Gallus gallus)
Aves CIRH1A 36
  • 61 (a)
OneToOne
CIRH1A 35
  • 63.8 (n)
  • 61.22 (a)
lizard
(Anolis carolinensis)
Reptilia CIRH1A 36
  • 61 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC52698 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cirh1a 35
  • 60.11 (n)
  • 55.39 (a)
Str.8218 35
zebrafish
(Danio rerio)
Actinopterygii cirh1a 36
  • 53 (a)
OneToOne
cirh1a 35
  • 58.35 (n)
  • 53.72 (a)
wufi09g10 35
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)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTP4 35
  • 41.14 (n)
  • 28.62 (a)
UTP4 36
  • 21 (a)
OneToOne
UTP4 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D13222g 35
  • 40.46 (n)
  • 27.38 (a)
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 UTP4:
  • 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 UTP4 Gene

ENSEMBL:
Gene Tree for UTP4 (if available)
TreeFam:
Gene Tree for UTP4 (if available)

Paralogs for UTP4 Gene

No data available for Paralogs for UTP4 Gene

Variants for UTP4 Gene

Sequence variations from dbSNP and Humsavar for UTP4 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_017445 North American Indian childhood cirrhosis (NAIC)
VAR_053388 -
rs11864946 -- 69,138,001(+) TGGGT(A/C)CAGGG intron-variant
rs16958656 -- 69,136,806(+) CAGGC(A/G/T)TTAAA reference, synonymous-codon
rs34396274 -- 69,136,491(+) AGTCC(-/C)TAGTA intron-variant

Variation tolerance for UTP4 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 UTP4 Gene

HapMap Linkage Disequilibrium report
UTP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for UTP4 Gene

Disorders for UTP4 Gene

MalaCards: The human disease database

(7) MalaCards diseases for UTP4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cirrhosis, north american indian childhood type
  • north american indian childhood cirrhosis
hereditary north american indian childhood cirrhosis
intrahepatic cholestasis
  • intrahepatic cholestasis of pregnancy
neonatal jaundice
  • neonatal hyperbilirubinemia
cholestasis
  • bile occlusion
- elite association - COSMIC cancer census association via MalaCards
Search UTP4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UTP4_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 UTP4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UTP4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UTP4
genes like me logo Genes that share disorders with UTP4: view

No data available for Genatlas for UTP4 Gene

Publications for UTP4 Gene

  1. Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis. (PMID: 16225863) Yu B. … Richter A. (Exp. Cell Res. 2005) 3 4 23 67
  2. 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 3
  3. Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1. (PMID: 19732766) Yu B. … Richter A. (Exp. Cell Res. 2009) 3 23
  4. A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. (PMID: 12417987) Chagnon P. … Richter A. (Am. J. Hum. Genet. 2002) 3 23
  5. Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype. (PMID: 10820129) BActard C. … Mitchell G.A. (Am. J. Hum. Genet. 2000) 2 3

Products for UTP4 Gene

Sources for UTP4 Gene

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