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

    Gene ID: 55813, updated on 10-Dec-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 MIM:620948; 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. Involved in ribosomal small subunit biogenesis. Located in chromosome and nucleolus. Part of small-subunit processome. [provided by Alliance of Genome Resources, Dec 2024]
    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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    See UTP6 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (31860904..31901708, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (32806760..32847572, complement)
    RS_2024_09 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. A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions. Jenne DE, et al. Genomics, 2000 May 15. PMID 10843809

    See all (68) 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)

    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_2024_08

    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

      UniProtKB/TrEMBL
      B3KX32

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

      UniProtKB/TrEMBL
      B4DSL9

    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

      UniProtKB/TrEMBL
      B3KQ21

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

      UniProtKB/TrEMBL
      B3KX32

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

      UniProtKB/TrEMBL
      B4DSL9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NYH9.2 GenPept UniProtKB/Swiss-Prot:Q9NYH9

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