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Q9Y6H3

- ATP23_HUMAN

UniProt

Q9Y6H3 - ATP23_HUMAN

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Protein

Mitochondrial inner membrane protease ATP23 homolog

Gene

XRCC6BP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi125 – 1251Divalent metal cation; catalyticBy similarity
Active sitei126 – 1261PROSITE-ProRule annotation
Metal bindingi129 – 1291Divalent metal cation; catalyticBy similarity

GO - Molecular functioni

  1. DNA-dependent protein kinase activity Source: UniProtKB
  2. metal ion binding Source: UniProtKB-KW
  3. metalloendopeptidase activity Source: InterPro

GO - Biological processi

  1. double-strand break repair via nonhomologous end joining Source: UniProtKB
  2. protein phosphorylation Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Metalloprotease, Protease

Keywords - Ligandi

Metal-binding

Protein family/group databases

MEROPSiM76.001.

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial inner membrane protease ATP23 homolog (EC:3.4.24.-)
Alternative name(s):
Ku70-binding protein 3
XRCC6-binding protein 1
Gene namesi
Name:XRCC6BP1
Synonyms:KUB3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12, UP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:29452. XRCC6BP1.

Subcellular locationi

GO - Cellular componenti

  1. DNA-dependent protein kinase-DNA ligase 4 complex Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670557.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 246246Mitochondrial inner membrane protease ATP23 homologPRO_0000330344Add
BLAST

Proteomic databases

MaxQBiQ9Y6H3.
PaxDbiQ9Y6H3.
PRIDEiQ9Y6H3.

PTM databases

PhosphoSiteiQ9Y6H3.

Expressioni

Gene expression databases

BgeeiQ9Y6H3.
CleanExiHS_XRCC6BP1.
GenevestigatoriQ9Y6H3.

Organism-specific databases

HPAiHPA035804.

Interactioni

Subunit structurei

Interacts with XRCC6.1 Publication

Protein-protein interaction databases

BioGridi124830. 4 interactions.
STRINGi9606.ENSP00000300145.

Structurei

3D structure databases

ProteinModelPortaliQ9Y6H3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase M76 family.Curated

Phylogenomic databases

eggNOGiNOG285435.
GeneTreeiENSGT00390000010948.
HOGENOMiHOG000244058.
HOVERGENiHBG055037.
InParanoidiQ9Y6H3.
KOiK18156.
OMAiRTPMVKF.
PhylomeDBiQ9Y6H3.
TreeFamiTF327014.

Family and domain databases

InterProiIPR019165. Peptidase_M76_ATP23.
[Graphical view]
PfamiPF09768. Peptidase_M76. 1 hit.
[Graphical view]
PROSITEiPS00142. ZINC_PROTEASE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9Y6H3-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MAGAPDERRR GPAAGEQLQQ QHVSCQVFPE RLAQGNPQQG FFSSFFTSNQ
60 70 80 90 100
KCQLRLLKTL ETNPYVKLLL DAMKHSGCAV NKDRHFSCED CNGNVSGGFD
110 120 130 140 150
ASTSQIVLCQ NNIHNQAHMN RVVTHELIHA FDHCRAHVDW FTNIRHLACS
160 170 180 190 200
EVRAANLSGD CSLVNEIFRL HFGLKQHHQT CVRDRATLSI LAVRNISKEV
210 220 230 240
AKKAVDEVFE SCFNDHEPFG RIPHNKTYAR YAHRDFENRD RYYSNI
Length:246
Mass (Da):28,081
Last modified:March 3, 2009 - v3
Checksum:iA9541CBEA299A35F
GO

Sequence cautioni

The sequence AAD31085.1 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti48 – 481S → C.1 Publication
Corresponds to variant rs3751325 [ dbSNP | Ensembl ].
VAR_054489

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF078164 mRNA. Translation: AAD31085.1. Different initiation.
AC084033 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW97091.1.
BC012776 mRNA. Translation: AAH12776.3.
BC115381 mRNA. Translation: AAI15382.1.
BC115382 mRNA. Translation: AAI15383.1.
CCDSiCCDS41802.1.
RefSeqiNP_150592.1. NM_033276.2.
UniGeneiHs.61188.

Genome annotation databases

EnsembliENST00000300145; ENSP00000300145; ENSG00000166896.
ENST00000571490; ENSP00000460944; ENSG00000262145.
GeneIDi91419.
KEGGihsa:91419.
UCSCiuc001sqp.3. human.

Polymorphism databases

DMDMi224471894.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF078164 mRNA. Translation: AAD31085.1 . Different initiation.
AC084033 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW97091.1 .
BC012776 mRNA. Translation: AAH12776.3 .
BC115381 mRNA. Translation: AAI15382.1 .
BC115382 mRNA. Translation: AAI15383.1 .
CCDSi CCDS41802.1.
RefSeqi NP_150592.1. NM_033276.2.
UniGenei Hs.61188.

3D structure databases

ProteinModelPortali Q9Y6H3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124830. 4 interactions.
STRINGi 9606.ENSP00000300145.

Protein family/group databases

MEROPSi M76.001.

PTM databases

PhosphoSitei Q9Y6H3.

Polymorphism databases

DMDMi 224471894.

Proteomic databases

MaxQBi Q9Y6H3.
PaxDbi Q9Y6H3.
PRIDEi Q9Y6H3.

Protocols and materials databases

DNASUi 91419.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000300145 ; ENSP00000300145 ; ENSG00000166896 .
ENST00000571490 ; ENSP00000460944 ; ENSG00000262145 .
GeneIDi 91419.
KEGGi hsa:91419.
UCSCi uc001sqp.3. human.

Organism-specific databases

CTDi 91419.
GeneCardsi GC12P058335.
H-InvDB HIX0010758.
HGNCi HGNC:29452. XRCC6BP1.
HPAi HPA035804.
neXtProti NX_Q9Y6H3.
PharmGKBi PA142670557.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG285435.
GeneTreei ENSGT00390000010948.
HOGENOMi HOG000244058.
HOVERGENi HBG055037.
InParanoidi Q9Y6H3.
KOi K18156.
OMAi RTPMVKF.
PhylomeDBi Q9Y6H3.
TreeFami TF327014.

Miscellaneous databases

GenomeRNAii 91419.
NextBioi 77237.
PROi Q9Y6H3.

Gene expression databases

Bgeei Q9Y6H3.
CleanExi HS_XRCC6BP1.
Genevestigatori Q9Y6H3.

Family and domain databases

InterProi IPR019165. Peptidase_M76_ATP23.
[Graphical view ]
Pfami PF09768. Peptidase_M76. 1 hit.
[Graphical view ]
PROSITEi PS00142. ZINC_PROTEASE. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CYS-48, INTERACTION WITH XRCC6.
    Tissue: Liver.
  2. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lung.

Entry informationi

Entry nameiATP23_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6H3
Secondary accession number(s): Q1RLM4, Q96E81
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: March 3, 2009
Last modified: October 29, 2014
This is version 85 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Peptidase families
    Classification of peptidase families and list of entries
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3