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ATAD3A ATPase family, AAA domain containing 3A [ Homo sapiens (human) ]

Gene ID: 55210, updated on 4-Nov-2018

Summary

Official Symbol
ATAD3Aprovided by HGNC
Official Full Name
ATPase family, AAA domain containing 3Aprovided by HGNC
Primary source
HGNC:HGNC:25567
See related
Ensembl:ENSG00000197785 MIM:612316; Vega:OTTHUMG00000000575
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
HAYOS
Summary
This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. A homozygous knockout of the orthologous gene in mice results in embryonic lethality at day 7.5 due to growth retardation and defective development of the trophoblast lineage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Expression
Ubiquitous expression in bone marrow (RPKM 6.3), testis (RPKM 6.2) and 25 other tissues See more
Orthologs

Genomic context

See ATAD3A in Genome Data Viewer
Location:
1p36.33
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (1512143..1534687)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1447523..1470067)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATPase family, AAA domain containing 3C Neighboring gene ATPase family, AAA domain containing 3B Neighboring gene transmembrane protein 240 Neighboring gene SSU72 homolog, RNA polymerase II CTD phosphatase

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpu vpu HIV-1 Vpu is identified to have a physical interaction with ATPase family, AAA domain containing 3A (ATAD3A) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10709, FLJ35514

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
mitochondrion organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial nucleoid IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ATPase family AAA domain-containing protein 3A

NCBI Reference Sequences (RefSeq)

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_053035.1 RefSeqGene

    Range
    5001..27545
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001170535.2NP_001164006.1  ATPase family AAA domain-containing protein 3A isoform 2

    See identical proteins and their annotated locations for NP_001164006.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
    Source sequence(s)
    AK001571, BC011814, BC014101, DA206969
    Consensus CDS
    CCDS53259.1
    UniProtKB/Swiss-Prot
    Q9NVI7
    Related
    ENSP00000368031.3, OTTHUMP00000000594, ENST00000378756.7, OTTHUMT00000001363
    Conserved Domains (3) summary
    smart00382
    Location:346476
    AAA; ATPases associated with a variety of cellular activities
    pfam00004
    Location:348475
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam12037
    Location:42286
    DUF3523; Domain of unknown function (DUF3523)
  2. NM_001170536.2NP_001164007.1  ATPase family AAA domain-containing protein 3A isoform 3

    See identical proteins and their annotated locations for NP_001164007.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences in the 5' UTR and 5' coding region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AK001571, AK056099, BC011814, BC014101
    Consensus CDS
    CCDS53260.1
    UniProtKB/Swiss-Prot
    Q9NVI7
    Related
    ENSP00000439290.1, ENST00000536055.5
    Conserved Domains (3) summary
    smart00382
    Location:267397
    AAA; ATPases associated with a variety of cellular activities
    pfam00004
    Location:269396
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam12037
    Location:12207
    DUF3523; Domain of unknown function (DUF3523)
  3. NM_018188.4NP_060658.3  ATPase family AAA domain-containing protein 3A isoform 1

    See identical proteins and their annotated locations for NP_060658.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK001571, AK091144, BC011814, BC014101, DA206969
    Consensus CDS
    CCDS31.1
    UniProtKB/Swiss-Prot
    Q9NVI7
    Related
    ENSP00000368030.5, OTTHUMP00000000596, ENST00000378755.9, OTTHUMT00000001365
    Conserved Domains (3) summary
    smart00382
    Location:394524
    AAA; ATPases associated with a variety of cellular activities
    pfam00004
    Location:396523
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam12037
    Location:42334
    DUF3523; Domain of unknown function (DUF3523)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    1512143..1534687
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448098.1XP_024303866.1  ATPase family AAA domain-containing protein 3A isoform X1

    Conserved Domains (3) summary
    pfam00004
    Location:348501
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam12037
    Location:42286
    DUF3523; Domain of unknown function (DUF3523)
    cl28319
    Location:265366
    COG1855; Predicted ATPase, PilT family [General function prediction only]

RNA

  1. XR_002956997.1 RNA Sequence

  2. XR_001737282.1 RNA Sequence

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