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ATAD3C ATPase family AAA domain containing 3C [ Homo sapiens (human) ]

Gene ID: 219293, updated on 5-Mar-2024

Summary

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Official Symbol
ATAD3Cprovided by HGNC
Official Full Name
ATPase family AAA domain containing 3Cprovided by HGNC
Primary source
HGNC:HGNC:32151
See related
Ensembl:ENSG00000215915 MIM:617227; AllianceGenome:HGNC:32151
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
Summary
Predicted to enable zinc ion binding activity. Predicted to be involved in mitochondrion organization. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 1.1), kidney (RPKM 0.9) and 25 other tissues See more
Orthologs
all
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Genomic context

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Location:
1p36.33
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1449689..1470163)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (884061..904534)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1385069..1405543)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985729 Neighboring gene Sharpr-MPRA regulatory region 8235 Neighboring gene long intergenic non-protein coding RNA 1770 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:1370998-1371187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20 Neighboring gene von Willebrand factor A domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1389959-1390458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1397006-1397780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 75 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1409130-1409976 Neighboring gene ATPase family AAA domain containing 3B Neighboring gene MPRA-validated peak11 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1443749-1444392 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1444393-1445034 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 76 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 77 Neighboring gene ATPase family AAA domain containing 3A

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. ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. Desai R, et al. Brain, 2017 Jun 1. PMID 28549128, Free PMC Article
  2. [ATAD3, a vital membrane-bound mitochondrial ATPase involved in tumor progression]. Li S, et al. Med Sci (Paris), 2011 Dec. PMID 22192748
  3. Regulation of MAGE-A3/6 by the CRL4-DCAF12 ubiquitin ligase and nutrient availability. Ravichandran R, et al. EMBO Rep, 2019 Jul. PMID 31267705, Free PMC Article
  4. TNIP1 inhibits selective autophagy via bipartite interaction with LC3/GABARAP and TAX1BP1. Le Guerroué F, et al. Mol Cell, 2023 Mar 16. PMID 36898370, Free PMC Article
  5. E3 Ligase Trim21 Ubiquitylates and Stabilizes Keratin 17 to Induce STAT3 Activation in Psoriasis. Yang L, et al. J Invest Dermatol, 2018 Dec. PMID 29859926

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. "ATAD3C regulates ATAD3A assembly and function in the mitochondrial membrane".
    Title: "ATAD3C regulates ATAD3A assembly and function in the mitochondrial membrane".
  2. ATAD3C region deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
    Title: ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
  3. ATAD3 may therefore be implicated in an unknown but essential and growth-linked mitochondrial function existing since pluri-cellular -organization and involved in tumorigenesis.
    Title: [ATAD3, a vital membrane-bound mitochondrial ATPase involved in tumor progression].
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ34599, FLJ37183

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in mitochondrion organization IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
ATPase family AAA domain-containing protein 3C
Names
ATPase family, AAA domain containing 3A

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_001039211.3 → NP_001034300.2  ATPase family AAA domain-containing protein 3C

    See identical proteins and their annotated locations for NP_001034300.2

    Status: VALIDATED

    Source sequence(s)
    AL157945, AL391244
    Consensus CDS
    CCDS44039.1
    UniProtKB/Swiss-Prot
    Q5T2N8, Q8N1Z5
    Related
    ENSP00000368062.2, ENST00000378785.7
    Conserved Domains (2) summary
    COG0464
    Location:164 → 359
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    pfam00004
    Location:173 → 300
    AAA; ATPase family associated with various cellular activities (AAA)

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    1449689..1470163
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    884061..904534
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_198466.1: Suppressed sequence

    Description
    NM_198466.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5T2N8.2 GenPept UniProtKB/Swiss-Prot:Q5T2N8

Gene LinkOut

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

Chemical Information
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