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    ATAD3B ATPase family AAA domain containing 3B [ Homo sapiens (human) ]

    Gene ID: 83858, updated on 17-Jun-2024

    Summary

    Official Symbol
    ATAD3Bprovided by HGNC
    Official Full Name
    ATPase family AAA domain containing 3Bprovided by HGNC
    Primary source
    HGNC:HGNC:24007
    See related
    Ensembl:ENSG00000160072 MIM:612317; AllianceGenome:HGNC:24007
    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
    TOB3; AAA-TOB3
    Summary
    The protein encoded by this gene is localized to the mitochondrial inner membrane, where it can bind to a highly-related protein, ATAD3A. ATAD3A appears to interact with matrix nucleoid complexes, and the encoded protein negatively regulates that interaction. This gene is expressed almost exclusively in pluripotent embryonic stem cells and some cancer cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
    Expression
    Ubiquitous expression in bone marrow (RPKM 7.4), testis (RPKM 6.3) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ATAD3B in Genome Data Viewer
    Location:
    1p36.33
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1471765..1509466)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (906136..943970)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1407145..1433228)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes 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 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 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 Neighboring gene Sharpr-MPRA regulatory region 185 Neighboring gene transmembrane protein 240

    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 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 3B (ATAD3B) 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

    • KIAA1273

    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
    located_in ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in secretory granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ATPase family AAA domain-containing protein 3B
    Names
    AAA-ATPase TOB3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001317238.2NP_001304167.1  ATPase family AAA domain-containing protein 3B isoform AAA-TOB3s precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (AAA-TOB3s) has a shorter and distinct N-terminus compared to isoform AAA-TOB3l.
      Source sequence(s)
      AL157945, AL645728, BC009938
      UniProtKB/TrEMBL
      Q96T67
      Related
      ENST00000472194.6
      Conserved Domains (2) summary
      pfam00004
      Location:302429
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam12037
      Location:49240
      DUF3523; Domain of unknown function (DUF3523)
    2. NM_031921.6NP_114127.3  ATPase family AAA domain-containing protein 3B isoform AAA-TOB3l

      See identical proteins and their annotated locations for NP_114127.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (AAA-TOB3l).
      Source sequence(s)
      AK290586, AL645728, BC009938
      Consensus CDS
      CCDS30.1
      UniProtKB/Swiss-Prot
      A8K3H1, Q5T9A4, Q6ZRB5, Q9BUK4, Q9ULE7
      UniProtKB/TrEMBL
      Q96T67
      Related
      ENSP00000500094.1, ENST00000673477.1
      Conserved Domains (5) summary
      TIGR01242
      Location:198556
      26Sp45; 26S proteasome subunit P45 family
      pfam00004
      Location:348475
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam12037
      Location:42286
      DUF3523; Domain of unknown function (DUF3523)
      cd16269
      Location:151162
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:94179
      GBP_C; Guanylate-binding protein, C-terminal domain

    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
      1471765..1509466
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005244806.4XP_005244863.1  ATPase family AAA domain-containing protein 3B isoform X1

      UniProtKB/TrEMBL
      Q96T67
      Conserved Domains (3) summary
      TIGR01242
      Location:198564
      26Sp45; 26S proteasome subunit P45 family
      pfam00004
      Location:348475
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam12037
      Location:42286
      DUF3523; Domain of unknown function (DUF3523)
    2. XM_011542244.2XP_011540546.1  ATPase family AAA domain-containing protein 3B isoform X6

      UniProtKB/TrEMBL
      Q96T67
      Conserved Domains (5) summary
      TIGR01242
      Location:246604
      26Sp45; 26S proteasome subunit P45 family
      pfam00004
      Location:396523
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam12037
      Location:42334
      DUF3523; Domain of unknown function (DUF3523)
      cd16269
      Location:199210
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:142227
      GBP_C; Guanylate-binding protein, C-terminal domain
    3. XM_047431596.1XP_047287552.1  ATPase family AAA domain-containing protein 3B isoform X4

    4. XM_047431583.1XP_047287539.1  ATPase family AAA domain-containing protein 3B isoform X2

    5. XM_047431588.1XP_047287544.1  ATPase family AAA domain-containing protein 3B isoform X2

    6. XM_011542241.4XP_011540543.1  ATPase family AAA domain-containing protein 3B isoform X2

      See identical proteins and their annotated locations for XP_011540543.1

      Conserved Domains (4) summary
      pfam00004
      Location:348450
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam12037
      Location:42286
      DUF3523; Domain of unknown function (DUF3523)
      cd16269
      Location:151162
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:94179
      GBP_C; Guanylate-binding protein, C-terminal domain
    7. XM_047431599.1XP_047287555.1  ATPase family AAA domain-containing protein 3B isoform X5

    8. XM_047431593.1XP_047287549.1  ATPase family AAA domain-containing protein 3B isoform X3

      UniProtKB/TrEMBL
      Q9H834

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      906136..943970
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338998.1XP_054194973.1  ATPase family AAA domain-containing protein 3B isoform X1

      UniProtKB/TrEMBL
      Q96T67
    2. XM_054339005.1XP_054194980.1  ATPase family AAA domain-containing protein 3B isoform X6

      UniProtKB/TrEMBL
      Q96T67
    3. XM_054339003.1XP_054194978.1  ATPase family AAA domain-containing protein 3B isoform X4

    4. XM_054338999.1XP_054194974.1  ATPase family AAA domain-containing protein 3B isoform X2

    5. XM_054339001.1XP_054194976.1  ATPase family AAA domain-containing protein 3B isoform X2

    6. XM_054339000.1XP_054194975.1  ATPase family AAA domain-containing protein 3B isoform X2

    7. XM_054339004.1XP_054194979.1  ATPase family AAA domain-containing protein 3B isoform X5

    8. XM_054338997.1XP_054194972.1  ATPase family AAA domain-containing protein 3B isoform X7

      UniProtKB/TrEMBL
      Q96T67
    9. XM_054339002.1XP_054194977.1  ATPase family AAA domain-containing protein 3B isoform X3

      UniProtKB/TrEMBL
      Q9H834