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UTP6 UTP6 small subunit processome component [ Homo sapiens (human) ]

Gene ID: 55813, updated on 3-Apr-2024

Summary

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Official Symbol
UTP6provided by HGNC
Official Full Name
UTP6 small subunit processome componentprovided by HGNC
Primary source
HGNC:HGNC:18279
See related
Ensembl:ENSG00000108651 AllianceGenome:HGNC:18279
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HCA66; C17orf40
Summary
Predicted to enable snoRNA binding activity. Predicted to be involved in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lymph node (RPKM 15.1), testis (RPKM 14.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17q11.2
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (31860904..31901708, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (32806760..32847572, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (30187923..30228727, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:30088656-30089855 Neighboring gene GPR160 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:30114922-30115422 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:30127927-30128120 Neighboring gene Sharpr-MPRA regulatory region 4911 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30185250-30185924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8414 Neighboring gene coordinator of PRMT5 and differentiation stimulator Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12020 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:30228395-30228986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12021 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30243727-30244384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30244385-30245040 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:30264117-30264702 Neighboring gene SUZ12 polycomb repressive complex 2 subunit Neighboring gene RNA, 5S ribosomal pseudogene 437 Neighboring gene SUZ12 PRS4 recombination region Neighboring gene uncharacterized LOC124903972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30333403-30334325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8417 Neighboring gene leucine rich repeat containing 37B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Positive regulation of apoptosis by HCA66, a new Apaf-1 interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients. Piddubnyak V, et al. Cell Death Differ, 2007 Jun. PMID 17380155
  2. Stability of the small gamma-tubulin complex requires HCA66, a protein of the centrosome and the nucleolus. Fant X, et al. J Cell Sci, 2009 Apr 15. PMID 19299467, Free PMC Article
  3. Mammalian HCA66 protein is required for both ribosome synthesis and centriole duplication. Bonnart C, et al. Nucleic Acids Res, 2012 Jul. PMID 22434888, Free PMC Article
  4. Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Douglas J, et al. Nat Genet, 2007 Aug. PMID 17632510
  5. Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval. Venturin M, et al. Ann Hum Genet, 2005 Sep. PMID 16138909

See all (60) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Stability of the small gamma-tubulin complex requires HCA66, a protein of the centrosome and the nucleolus.
    Title: Stability of the small gamma-tubulin complex requires HCA66, a protein of the centrosome and the nucleolus.
  2. Results suggest that reduced expression of HCA66, owing to haploinsufficiency of HCA66 gene, could render NF1 microdeleted patients-derived cells less susceptible to apoptosis.
    Title: Positive regulation of apoptosis by HCA66, a new Apaf-1 interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients.
Submit: New GeneRIF Correction

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables snoRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ribosomal small subunit biogenesis IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of Pwp2p-containing subcomplex of 90S preribosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in chromosome IDA
Inferred from Direct Assay
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
part_of small-subunit processome IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of small-subunit processome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
U3 small nucleolar RNA-associated protein 6 homolog
Names
UTP6, small subunit (SSU) processome component, homolog
hepatocellular carcinoma-associated antigen 66
multiple hat domains protein

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_018428.3 → NP_060898.2  U3 small nucleolar RNA-associated protein 6 homolog

    See identical proteins and their annotated locations for NP_060898.2

    Status: VALIDATED

    Source sequence(s)
    AC004253, AF334386, BC015454, BC035325
    Consensus CDS
    CCDS11269.1
    UniProtKB/Swiss-Prot
    Q8IX96, Q96BL2, Q9NQ91, Q9NYH9
    UniProtKB/TrEMBL
    B3KQ21
    Related
    ENSP00000261708.4, ENST00000261708.9
    Conserved Domains (2) summary
    COG5191
    Location:1 → 222
    COG5191; Uncharacterized conserved protein, contains HAT (Half-A-TPR) repeat [General function prediction only]
    pfam08640
    Location:9 → 81
    U3_assoc_6; U3 small nucleolar RNA-associated protein 6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    31860904..31901708 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524997.4 → XP_011523299.1  U3 small nucleolar RNA-associated protein 6 homolog isoform X1

    UniProtKB/TrEMBL
    B3KQ21
    Conserved Domains (2) summary
    COG5191
    Location:1 → 222
    COG5191; Uncharacterized conserved protein, contains HAT (Half-A-TPR) repeat [General function prediction only]
    pfam08640
    Location:9 → 81
    U3_assoc_6; U3 small nucleolar RNA-associated protein 6

  2. XM_047436390.1 → XP_047292346.1  U3 small nucleolar RNA-associated protein 6 homolog isoform X2

  3. XM_047436391.1 → XP_047292347.1  U3 small nucleolar RNA-associated protein 6 homolog isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    32806760..32847572 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316654.1 → XP_054172629.1  U3 small nucleolar RNA-associated protein 6 homolog isoform X1

  2. XM_054316655.1 → XP_054172630.1  U3 small nucleolar RNA-associated protein 6 homolog isoform X2

  3. XM_054316656.1 → XP_054172631.1  U3 small nucleolar RNA-associated protein 6 homolog isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NYH9.2 GenPept UniProtKB/Swiss-Prot:Q9NYH9

Gene LinkOut

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