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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
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Genomic context

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See CENATAC in Genome Data Viewer
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

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