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    CENATAC centrosomal AT-AC splicing factor [ Homo sapiens (human) ]

    Gene ID: 338657, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CENATACprovided by HGNC
    Official Full Name
    centrosomal AT-AC splicing factorprovided by HGNC
    Primary source
    HGNC:HGNC:30460
    See related
    Ensembl:ENSG00000186166 MIM:620142; AllianceGenome:HGNC:30460
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MVA4; CCDC84; DLNB14
    Summary
    This gene encodes a protein thought to contain a coiled coil motif. No function has been determined for the encoded protein. A pseudogene of this gene is located on chromosome 20. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
    Expression
    Ubiquitous expression in skin (RPKM 3.1), spleen (RPKM 2.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q23.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (118998138..119015793)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (119018492..119036154)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118868848..118886503)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5614 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:118868291-118868816 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:118869213-118870412 Neighboring gene CENATAC divergent transcript Neighboring gene ribosomal protein L23a pseudogene 64 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5616 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118889349-118890047 Neighboring gene ribosomal protein S25 Neighboring gene trafficking protein particle complex subunit 4 Neighboring gene solute carrier family 37 member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3962 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:118906707-118906861 Neighboring gene HYOU1 antisense RNA 1 Neighboring gene hypoxia up-regulated 1

    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. Chromosomal instability by mutations in the novel minor spliceosome component CENATAC. de Wolf B, et al. EMBO J, 2021 Jul 15. PMID 34009673, Free PMC Article
    2. CCDC84 Acetylation Oscillation Regulates Centrosome Duplication by Modulating HsSAS-6 Degradation. Wang T, et al. Cell Rep, 2019 Nov 12. PMID 31722219
    3. High-Resolution CRISPR Screens Reveal Fitness Genes and Genotype-Specific Cancer Liabilities. Hart T, et al. Cell, 2015 Dec 3. PMID 26627737
    4. Mapping the Genetic Landscape of Human Cells. Horlbeck MA, et al. Cell, 2018 Aug 9. PMID 30033366, Free PMC Article
    5. Receptor-mediated clustering of FIP200 bypasses the role of LC3 lipidation in autophagy. Ohnstad AE, et al. EMBO J, 2020 Dec 15. PMID 33226137, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Chromosomal instability by mutations in the novel minor spliceosome component CENATAC.
      Title: Chromosomal instability by mutations in the novel minor spliceosome component CENATAC.
    2. CCDC84 Acetylation Oscillation Regulates Centrosome Duplication by Modulating HsSAS-6 Degradation.
      Title: CCDC84 Acetylation Oscillation Regulates Centrosome Duplication by Modulating HsSAS-6 Degradation.
    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

    Associated conditions

    Description Tests
    Mosaic variegated aneuploidy syndrome 4
    MedGen: C5774267 OMIM: 620153 GeneReviews: Not available
    		not available

    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

    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 
    Process Evidence Code Pubs
    involved_in chromosome separation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of centrosome duplication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of centrosome duplication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    centrosomal AT-AC splicing factor
    Names
    coiled-coil domain containing 84
    coiled-coil domain-containing protein 84

    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.

    Genomic

    1. NG_050577.1 RefSeqGene

      Range
      8786..26441
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_198489.3 → NP_940891.1  centrosomal AT-AC splicing factor

      See identical proteins and their annotated locations for NP_940891.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript.
      Source sequence(s)
      AB094093, BU733365, HY073607
      Consensus CDS
      CCDS8405.1
      UniProtKB/Swiss-Prot
      Q86UT8
      Related
      ENSP00000334767.1, ENST00000334418.6
      Conserved Domains (1) summary
      pfam14968
      Location:7 → 322
      CCDC84; Coiled coil protein 84

    RNA

    1. NR_104049.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AW014772, BC144209, BU733365, HY073607

    2. NR_104050.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses alternate splice sites in two internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC144210, BU733365, DB565963, HY073607
      Related
      ENST00000532132.5

    3. NR_104051.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in an internal exon, contains an alternate exon, and lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC144208, BG251503, BU733365, HY073607
      Related
      ENST00000526463.5

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      118998138..119015793
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_009646203.1 Reference GRCh38.p14 PATCHES

      Range
      19738..37393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      119018492..119036154
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86UT8.1 GenPept UniProtKB/Swiss-Prot:Q86UT8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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