Q9Y6H3 (ATP23_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Mitochondrial inner membrane protease ATP23 homolog
EC=3.4.24.-

Alternative name(s):
Ku70-binding protein 3
XRCC6-binding protein 1

Gene names

Name:	XRCC6BP1
Synonyms:	KUB3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	246 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subunit structure	Interacts with XRCC6. Ref.1
Sequence similarities	Belongs to the peptidase M76 family.
Sequence caution	The sequence AAD31085.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Ligand	Metal-binding
Molecular function	Hydrolase Metalloprotease Protease
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	double-strand break repair via nonhomologous end joining Traceable author statement Ref.1. Source: UniProtKB proteolysis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	DNA-dependent protein kinase-DNA ligase 4 complex Non-traceable author statement Ref.1. Source: UniProtKB
Molecular_function	DNA-dependent protein kinase activity Traceable author statement Ref.1. Source: UniProtKB metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW metalloendopeptidase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 246	246	Mitochondrial inner membrane protease ATP23 homolog		PRO_0000330344
Sites
	Active site	126	1	By similarity
	Metal binding	125	1	Divalent metal cation; catalytic By similarity
	Metal binding	129	1	Divalent metal cation; catalytic By similarity
Natural variations
	Natural variant	48	1	S → C. Ref.1 Corresponds to variant rs3751325 [ dbSNP | Ensembl ].		VAR_054489

Sequences

	Sequence		Length	Mass (Da)
	Q9Y6H3 [UniParc]. Last modified March 3, 2009. Version 3. Checksum: A9541CBEA299A35F	FASTA	246	28,081
	10 20 30 40 50 60 MAGAPDERRR GPAAGEQLQQ QHVSCQVFPE RLAQGNPQQG FFSSFFTSNQ KCQLRLLKTL 70 80 90 100 110 120 ETNPYVKLLL DAMKHSGCAV NKDRHFSCED CNGNVSGGFD ASTSQIVLCQ NNIHNQAHMN 130 140 150 160 170 180 RVVTHELIHA FDHCRAHVDW FTNIRHLACS EVRAANLSGD CSLVNEIFRL HFGLKQHHQT 190 200 210 220 230 240 CVRDRATLSI LAVRNISKEV AKKAVDEVFE SCFNDHEPFG RIPHNKTYAR YAHRDFENRD RYYSNI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation of Ku70-binding proteins (KUBs)." Yang C.-R., Yeh S.-Y., Leskov K., Odegaard E., Hsu H.L., Chang C., Kinsella T.J., Chen D.J., Boothman D.A. Nucleic Acids Res. 27:2165-2174(1999) [PubMed] [Europe PMC] [Abstract] 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]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00002288.
RefSeq	NP_150592.1. NM_033276.2.
UniGene	Hs.61188.
3D structure databases
ProteinModelPortal	Q9Y6H3.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000300145.
Protein family/group databases
MEROPS	M76.001.
PTM databases
PhosphoSite	Q9Y6H3.
Polymorphism databases
DMDM	224471894.
Proteomic databases
PaxDb	Q9Y6H3.
PRIDE	Q9Y6H3.
Protocols and materials databases
DNASU	91419.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000300145; ENSP00000300145; ENSG00000166896. ENST00000571490; ENSP00000460944; ENSG00000262145.
GeneID	91419.
KEGG	hsa:91419.
UCSC	uc001sqp.3. human.
Organism-specific databases
CTD	91419.
GeneCards	GC12P058335.
H-InvDB	HIX0010758.
HGNC	HGNC:29452. XRCC6BP1.
HPA	HPA035804.
neXtProt	NX_Q9Y6H3.
PharmGKB	PA142670557.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG285435.
HOGENOM	HOG000244058.
HOVERGEN	HBG055037.
InParanoid	Q9Y6H3.
OMA	DWFTNIR.
OrthoDB	EOG45HRZ8.
Gene expression databases
Bgee	Q9Y6H3.
CleanEx	HS_XRCC6BP1.
Genevestigator	Q9Y6H3.
Family and domain databases
InterPro	IPR019165. Peptidase_M76_ATP23. [Graphical view]
Pfam	PF09768. Peptidase_M76. 1 hit. [Graphical view]
PROSITE	PS00142. ZINC_PROTEASE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	91419.
NextBio	77237.

Entry information

Entry name

ATP23_HUMAN

Accession

Primary (citable) accession number: Q9Y6H3
Secondary accession number(s): Q1RLM4, Q96E81

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 29, 2008
Last sequence update:	March 3, 2009
Last modified:	May 1, 2013
This is version 75 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.