ATP23_HUMAN
ID ATP23_HUMAN Reviewed; 246 AA.
AC Q9Y6H3; Q1RLM4; Q96E81;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 03-MAR-2009, sequence version 3.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Mitochondrial inner membrane protease ATP23 homolog;
DE EC=3.4.24.-;
DE AltName: Full=Ku70-binding protein 3;
DE AltName: Full=XRCC6-binding protein 1;
GN Name=ATP23 {ECO:0000312|HGNC:HGNC:29452}; Synonyms=KUB3, XRCC6BP1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], VARIANT CYS-48, AND INTERACTION WITH XRCC6.
RC TISSUE=Liver;
RX PubMed=10219089; DOI=10.1093/nar/27.10.2165;
RA Yang C.-R., Yeh S.-Y., Leskov K., Odegaard E., Hsu H.L., Chang C.,
RA Kinsella T.J., Chen D.J., Boothman D.A.;
RT "Isolation of Ku70-binding proteins (KUBs).";
RL Nucleic Acids Res. 27:2165-2174(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBUNIT: Interacts with XRCC6. {ECO:0000269|PubMed:10219089}.
CC -!- INTERACTION:
CC Q9Y6H3; Q9NYB9-2: ABI2; NbExp=3; IntAct=EBI-12811889, EBI-11096309;
CC Q9Y6H3; Q08043: ACTN3; NbExp=3; IntAct=EBI-12811889, EBI-2880652;
CC Q9Y6H3; Q9H1Y0: ATG5; NbExp=3; IntAct=EBI-12811889, EBI-1047414;
CC Q9Y6H3; O95429: BAG4; NbExp=3; IntAct=EBI-12811889, EBI-2949658;
CC Q9Y6H3; P41182: BCL6; NbExp=3; IntAct=EBI-12811889, EBI-765407;
CC Q9Y6H3; Q9NX04: C1orf109; NbExp=3; IntAct=EBI-12811889, EBI-8643161;
CC Q9Y6H3; Q96HB5: CCDC120; NbExp=3; IntAct=EBI-12811889, EBI-744556;
CC Q9Y6H3; P33240: CSTF2; NbExp=3; IntAct=EBI-12811889, EBI-711360;
CC Q9Y6H3; Q9H0L4: CSTF2T; NbExp=3; IntAct=EBI-12811889, EBI-747012;
CC Q9Y6H3; Q9UI47-2: CTNNA3; NbExp=3; IntAct=EBI-12811889, EBI-11962928;
CC Q9Y6H3; Q9H596: DUSP21; NbExp=3; IntAct=EBI-12811889, EBI-7357329;
CC Q9Y6H3; Q14204: DYNC1H1; NbExp=3; IntAct=EBI-12811889, EBI-356015;
CC Q9Y6H3; Q8IYI6: EXOC8; NbExp=3; IntAct=EBI-12811889, EBI-742102;
CC Q9Y6H3; O75593: FOXH1; NbExp=3; IntAct=EBI-12811889, EBI-1759806;
CC Q9Y6H3; Q12951-2: FOXI1; NbExp=3; IntAct=EBI-12811889, EBI-12018822;
CC Q9Y6H3; O43559: FRS3; NbExp=3; IntAct=EBI-12811889, EBI-725515;
CC Q9Y6H3; Q8IVS8: GLYCTK; NbExp=3; IntAct=EBI-12811889, EBI-748515;
CC Q9Y6H3; Q96NT3-2: GUCD1; NbExp=3; IntAct=EBI-12811889, EBI-11978177;
CC Q9Y6H3; P52597: HNRNPF; NbExp=3; IntAct=EBI-12811889, EBI-352986;
CC Q9Y6H3; P49639: HOXA1; NbExp=3; IntAct=EBI-12811889, EBI-740785;
CC Q9Y6H3; O43593: HR; NbExp=3; IntAct=EBI-12811889, EBI-2880706;
CC Q9Y6H3; Q6P597-3: KLC3; NbExp=3; IntAct=EBI-12811889, EBI-12076930;
CC Q9Y6H3; Q92876: KLK6; NbExp=3; IntAct=EBI-12811889, EBI-2432309;
CC Q9Y6H3; Q9NRQ2: PLSCR4; NbExp=3; IntAct=EBI-12811889, EBI-769257;
CC Q9Y6H3; Q96I34: PPP1R16A; NbExp=3; IntAct=EBI-12811889, EBI-710402;
CC Q9Y6H3; O75716: STK16; NbExp=3; IntAct=EBI-12811889, EBI-749295;
CC Q9Y6H3; Q96PN8: TSSK3; NbExp=3; IntAct=EBI-12811889, EBI-3918381;
CC Q9Y6H3; Q15915: ZIC1; NbExp=3; IntAct=EBI-12811889, EBI-11963196;
CC -!- SIMILARITY: Belongs to the peptidase M76 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD31085.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF078164; AAD31085.1; ALT_INIT; mRNA.
DR EMBL; AC084033; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471054; EAW97091.1; -; Genomic_DNA.
DR EMBL; BC012776; AAH12776.3; -; mRNA.
DR EMBL; BC115381; AAI15382.1; -; mRNA.
DR EMBL; BC115382; AAI15383.1; -; mRNA.
DR CCDS; CCDS41802.1; -.
DR RefSeq; NP_001307337.1; NM_001320408.1.
DR RefSeq; NP_001307338.1; NM_001320409.1.
DR RefSeq; NP_001307339.1; NM_001320410.1.
DR RefSeq; NP_150592.1; NM_033276.3.
DR AlphaFoldDB; Q9Y6H3; -.
DR BioGRID; 124830; 57.
DR IntAct; Q9Y6H3; 38.
DR STRING; 9606.ENSP00000300145; -.
DR MEROPS; M76.001; -.
DR iPTMnet; Q9Y6H3; -.
DR PhosphoSitePlus; Q9Y6H3; -.
DR BioMuta; ATP23; -.
DR DMDM; 224471894; -.
DR EPD; Q9Y6H3; -.
DR jPOST; Q9Y6H3; -.
DR MassIVE; Q9Y6H3; -.
DR MaxQB; Q9Y6H3; -.
DR PaxDb; Q9Y6H3; -.
DR PeptideAtlas; Q9Y6H3; -.
DR PRIDE; Q9Y6H3; -.
DR ProteomicsDB; 86679; -.
DR Antibodypedia; 28994; 98 antibodies from 17 providers.
DR DNASU; 91419; -.
DR Ensembl; ENST00000300145.4; ENSP00000300145.3; ENSG00000166896.9.
DR Ensembl; ENST00000571490.1; ENSP00000460944.1; ENSG00000262145.5.
DR GeneID; 91419; -.
DR KEGG; hsa:91419; -.
DR MANE-Select; ENST00000300145.4; ENSP00000300145.3; NM_033276.4; NP_150592.1.
DR UCSC; uc001sqp.4; human.
DR CTD; 91419; -.
DR DisGeNET; 91419; -.
DR GeneCards; ATP23; -.
DR HGNC; HGNC:29452; ATP23.
DR HPA; ENSG00000166896; Tissue enhanced (testis).
DR MIM; 619760; gene.
DR neXtProt; NX_Q9Y6H3; -.
DR OpenTargets; ENSG00000166896; -.
DR PharmGKB; PA142670557; -.
DR VEuPathDB; HostDB:ENSG00000166896; -.
DR eggNOG; KOG3314; Eukaryota.
DR GeneTree; ENSGT00390000010948; -.
DR HOGENOM; CLU_079125_1_0_1; -.
DR InParanoid; Q9Y6H3; -.
DR OMA; CFNDREP; -.
DR OrthoDB; 1288109at2759; -.
DR PhylomeDB; Q9Y6H3; -.
DR TreeFam; TF327014; -.
DR PathwayCommons; Q9Y6H3; -.
DR SignaLink; Q9Y6H3; -.
DR BioGRID-ORCS; 91419; 60 hits in 1073 CRISPR screens.
DR ChiTaRS; ATP23; human.
DR GenomeRNAi; 91419; -.
DR Pharos; Q9Y6H3; Tbio.
DR PRO; PR:Q9Y6H3; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q9Y6H3; protein.
DR Bgee; ENSG00000166896; Expressed in right testis and 100 other tissues.
DR ExpressionAtlas; Q9Y6H3; baseline and differential.
DR Genevisible; Q9Y6H3; HS.
DR GO; GO:0030054; C:cell junction; IDA:HPA.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005958; C:DNA-dependent protein kinase-DNA ligase 4 complex; NAS:UniProtKB.
DR GO; GO:0031314; C:extrinsic component of mitochondrial inner membrane; IBA:GO_Central.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0004677; F:DNA-dependent protein kinase activity; TAS:UniProtKB.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0004222; F:metalloendopeptidase activity; IEA:InterPro.
DR GO; GO:0006303; P:double-strand break repair via nonhomologous end joining; TAS:UniProtKB.
DR GO; GO:0034982; P:mitochondrial protein processing; IBA:GO_Central.
DR GO; GO:0033615; P:mitochondrial proton-transporting ATP synthase complex assembly; IBA:GO_Central.
DR InterPro; IPR019165; Peptidase_M76_ATP23.
DR PANTHER; PTHR21711; PTHR21711; 1.
DR Pfam; PF09768; Peptidase_M76; 1.
DR PROSITE; PS00142; ZINC_PROTEASE; 1.
PE 1: Evidence at protein level;
KW Hydrolase; Metal-binding; Metalloprotease; Protease; Reference proteome.
FT CHAIN 1..246
FT /note="Mitochondrial inner membrane protease ATP23 homolog"
FT /id="PRO_0000330344"
FT ACT_SITE 126
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU10095"
FT BINDING 125
FT /ligand="a divalent metal cation"
FT /ligand_id="ChEBI:CHEBI:60240"
FT /ligand_note="catalytic"
FT /evidence="ECO:0000250"
FT BINDING 129
FT /ligand="a divalent metal cation"
FT /ligand_id="ChEBI:CHEBI:60240"
FT /ligand_note="catalytic"
FT /evidence="ECO:0000250"
FT VARIANT 48
FT /note="S -> C (in dbSNP:rs3751325)"
FT /evidence="ECO:0000269|PubMed:10219089"
FT /id="VAR_054489"
SQ SEQUENCE 246 AA; 28081 MW; A9541CBEA299A35F CRC64;
MAGAPDERRR GPAAGEQLQQ QHVSCQVFPE RLAQGNPQQG FFSSFFTSNQ KCQLRLLKTL
ETNPYVKLLL DAMKHSGCAV NKDRHFSCED CNGNVSGGFD ASTSQIVLCQ NNIHNQAHMN
RVVTHELIHA FDHCRAHVDW FTNIRHLACS EVRAANLSGD CSLVNEIFRL HFGLKQHHQT
CVRDRATLSI LAVRNISKEV AKKAVDEVFE SCFNDHEPFG RIPHNKTYAR YAHRDFENRD
RYYSNI
