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

Gene ID: 55210, updated on 19-Sep-2024

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; AllianceGenome:HGNC:25567
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; PHRINL
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
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Genomic context

See ATAD3A in Genome Data Viewer
Location:
1p36.33
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1512162..1534685)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (946666..969189)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1447542..1470065)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1389959-1390458 Neighboring gene ATPase family AAA domain containing 3C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1397006-1397780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22 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 Sharpr-MPRA regulatory region 185 Neighboring gene transmembrane protein 240 Neighboring gene SSU72 homolog, RNA polymerase II CTD phosphatase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1505865-1506366 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 78 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 79

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What'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

Clone Names

  • FLJ10709, FLJ35514

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
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA damage response IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of HRI-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in antiviral innate immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitochondrion organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial nucleoid IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in 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)

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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_053035.1 RefSeqGene

    Range
    5020..27543
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001170535.3NP_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/TrEMBL
    Q96T67
    Related
    ENSP00000368031.3, ENST00000378756.8
    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_001170536.3NP_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/TrEMBL
    Q96T67
    Related
    ENSP00000439290.1, ENST00000536055.6
    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_018188.5NP_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
    B3KPB3, D2K8Q1, G3V1I6, Q5SV23, Q8N275, Q96A50, Q9NVI7
    UniProtKB/TrEMBL
    Q96T67
    Related
    ENSP00000368030.5, ENST00000378755.9
    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: 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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    1512162..1534685
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047424288.1XP_047280244.1  ATPase family AAA domain-containing protein 3A isoform X1

    UniProtKB/TrEMBL
    Q96T67
  2. XM_047424289.1XP_047280245.1  ATPase family AAA domain-containing protein 3A isoform X2

    UniProtKB/TrEMBL
    Q96T67
  3. XM_047424290.1XP_047280246.1  ATPase family AAA domain-containing protein 3A isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    946666..969189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337419.1XP_054193394.1  ATPase family AAA domain-containing protein 3A isoform X1

    UniProtKB/TrEMBL
    Q96T67
  2. XM_054337420.1XP_054193395.1  ATPase family AAA domain-containing protein 3A isoform X2

    UniProtKB/TrEMBL
    Q96T67
  3. XM_054337421.1XP_054193396.1  ATPase family AAA domain-containing protein 3A isoform X3