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ATP23 ATP23 metallopeptidase and ATP synthase assembly factor homolog [ Homo sapiens (human) ]

Gene ID: 91419, updated on 11-Jun-2021

Summary

Official Symbol
ATP23provided by HGNC
Official Full Name
ATP23 metallopeptidase and ATP synthase assembly factor homologprovided by HGNC
Primary source
HGNC:HGNC:29452
See related
Ensembl:ENSG00000166896
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
KUB3; XRCC6BP1
Summary
The protein encoded by this gene is amplified in glioblastomas and interacts with the DNA binding subunit of DNA-dependent protein kinase. This kinase is involved in double-strand break repair (DSB), and higher expression of the encoded protein increases the efficiency of DSB. In addition, comparison to orthologous proteins strongly suggests that this protein is a metalloprotease important in the biosynthesis of mitochondrial ATPase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Expression
Broad expression in testis (RPKM 13.5), bone marrow (RPKM 4.5) and 24 other tissues See more
Orthologs
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Genomic context

See ATP23 in Genome Data Viewer
Location:
12q14.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (57941567..57959148)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58335350..58352931)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC283387 Neighboring gene uncharacterized LOC101927608 Neighboring gene GIHCG inhibitor of miR-200b/200a/429 expression Neighboring gene zinc finger protein 100 pseudogene Neighboring gene RN7SK pseudogene 65

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC134817, MGC134818

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-dependent protein kinase activity TAS
Traceable Author Statement
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in double-strand break repair via nonhomologous end joining TAS
Traceable Author Statement
more info
PubMed 
involved_in mitochondrial protein processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitochondrial proton-transporting ATP synthase complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of DNA-dependent protein kinase-DNA ligase 4 complex NAS
Non-traceable Author Statement
more info
PubMed 
located_in cell junction IDA
Inferred from Direct Assay
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
is_active_in extrinsic component of mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
mitochondrial inner membrane protease ATP23 homolog
Names
Ku70-binding protein 3
XRCC6-binding protein 1
NP_001307337.1
NP_001307338.1
NP_001307339.1
NP_150592.1
XP_011537278.1
XP_016875695.1

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_001320408.2NP_001307337.1  mitochondrial inner membrane protease ATP23 homolog isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction in the 5' end compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
    Source sequence(s)
    AC084033, BC012776, BM544500, BU601924
    UniProtKB/Swiss-Prot
    Q9Y6H3
    Conserved Domains (1) summary
    pfam09768
    Location:3168
    Peptidase_M76; Peptidase M76 family
  2. NM_001320409.2NP_001307338.1  mitochondrial inner membrane protease ATP23 homolog isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the 5' end compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
    Source sequence(s)
    AC084033, BC012776, BU601924, DA711361
    UniProtKB/Swiss-Prot
    Q9Y6H3
    Conserved Domains (1) summary
    pfam09768
    Location:1102
    Peptidase_M76; Peptidase M76 family
  3. NM_001320410.2NP_001307339.1  mitochondrial inner membrane protease ATP23 homolog isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
    Source sequence(s)
    AC084033, BC012776, BM557436, BU601924
    UniProtKB/Swiss-Prot
    Q9Y6H3
    Conserved Domains (1) summary
    pfam09768
    Location:1102
    Peptidase_M76; Peptidase M76 family
  4. NM_033276.4NP_150592.1  mitochondrial inner membrane protease ATP23 homolog isoform a

    See identical proteins and their annotated locations for NP_150592.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC084033, BC012776, BU601924
    Consensus CDS
    CCDS41802.1
    UniProtKB/Swiss-Prot
    Q9Y6H3
    Related
    ENSP00000300145.3, ENST00000300145.4
    Conserved Domains (1) summary
    pfam09768
    Location:50220
    Peptidase_M76; Peptidase M76 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    57941567..57959148
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020206.1XP_016875695.1  mitochondrial inner membrane protease ATP23 homolog isoform X2

    Conserved Domains (1) summary
    pfam09768
    Location:1148
    Peptidase_M76; Peptidase M76 family
  2. XM_011538976.2XP_011537278.1  mitochondrial inner membrane protease ATP23 homolog isoform X1

    See identical proteins and their annotated locations for XP_011537278.1

    Conserved Domains (1) summary
    pfam09768
    Location:29166
    Peptidase_M76; Peptidase M76 family

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315939.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    142767..160348 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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