Q14249 (NUCG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Endonuclease G, mitochondrial
Short name=Endo G
EC=3.1.30.-

Gene names

Name:

ENDOG

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	297 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Cleaves DNA at double-stranded (DG)n.(DC)n and at single-stranded (DC)n tracts. In addition to deoxyribonuclease activities, also has ribonuclease (RNase) and RNase H activities. Capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA By similarity.
Cofactor	Manganese or magnesium By similarity.
Subunit structure	Homodimer By similarity.
Subcellular location	Mitochondrion.
Miscellaneous	The active site contains 1 hydrated divalent metal cation that has only 1 direct interaction with the protein; all other interactions are via water molecules By similarity.
Sequence similarities	Belongs to the DNA/RNA non-specific endonuclease family.

Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Polymorphism
Domain	Transit peptide
Ligand	Magnesium Manganese Metal-binding
Molecular function	Endonuclease Hydrolase Nuclease
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	endonuclease activity Inferred from electronic annotation. Source: UniProtKB-KW metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW nucleic acid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 48	48	Mitochondrion By similarity
	Chain	49 – 297	249	Endonuclease G, mitochondrial		PRO_0000019918
Sites
	Active site	141	1	Proton acceptor By similarity
	Metal binding	172	1	Magnesium or manganese; catalytic By similarity
Natural variations
	Natural variant	12	1	S → L. Ref.3 Corresponds to variant rs2293969 [ dbSNP | Ensembl ].		VAR_031691
Experimental info
	Sequence conflict	34	1	P → L in CAA55963. Ref.1
	Sequence conflict	163	1	N → K in CAA55963. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q14249 [UniParc]. Last modified January 11, 2011. Version 4. Checksum: 33015E8A619781B7	FASTA	297	32,620
	10 20 30 40 50 60 MRALRAGLTL ASGAGLGAVV EGWRRRREDA RAAPGLLGRL PVLPVAAAAE LPPVPGGPRG 70 80 90 100 110 120 PGELAKYGLP GLAQLKSRES YVLCYDPRTR GALWVVEQLR PERLRGDGDR RECDFREDDS 130 140 150 160 170 180 VHAYHRATNA DYRGSGFDRG HLAAAANHRW SQKAMDDTFY LSNVAPQVPH LNQNAWNNLE 190 200 210 220 230 240 KYSRSLTRSY QNVYVCTGPL FLPRTEADGK SYVKYQVIGK NHVAVPTHFF KVLILEAAGG 250 260 270 280 290 QIELRTYVMP NAPVDEAIPL ERFLVPIESI ERASGLLFVP NILARAGSLK AITAGSK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	Zeviani M. Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brain.
[2]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-12. Tissue: Brain and Uterus.
[4]	"Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis." Tiranti V., Rossi E., Ruiz-Carrillo A., Rossi G., Rocchi M., Didonato S., Zuffardi O., Zeviani M. Genomics 25:559-564(1995) [PubMed: 7789991] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 75-297. Tissue: Brain.
[5]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X79444 mRNA. Translation: CAA55963.1. AL441992 Genomic DNA. Translation: CAI15412.1. BC004922 mRNA. Translation: AAH04922.1. BC016351 mRNA. Translation: AAH16351.1.
IPI	IPI00290614.
PIR	T09542.
RefSeq	NP_004426.2. NM_004435.2.
UniGene	Hs.729390.
3D structure databases
ProteinModelPortal	Q14249.
SMR	Q14249. Positions 54-291.
ModBase	Search...
Protein-protein interaction databases
STRING	Q14249.
Polymorphism databases
DMDM	24638471.
Proteomic databases
PRIDE	Q14249.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000372642; ENSP00000361725; ENSG00000167136.
GeneID	2021.
KEGG	hsa:2021.
Organism-specific databases
CTD	2021.
GeneCards	GC09P131580.
H-InvDB	HIX0008437. HIX0008438.
HGNC	HGNC:3346. ENDOG.
HPA	HPA021335. HPA021830.
MIM	600440. gene.
neXtProt	NX_Q14249.
PharmGKB	PA27783.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19691.
GeneTree	ENSGT00530000063772.
HOGENOM	HBG713373.
HOVERGEN	HBG002851.
InParanoid	Q14249.
OMA	HKWSQKA.
OrthoDB	EOG4VQ9Q4.
PhylomeDB	Q14249.
Gene expression databases
ArrayExpress	Q14249.
Bgee	Q14249.
CleanEx	HS_ENDOG.
Genevestigator	Q14249.
GermOnline	ENSG00000167136. Homo sapiens.
Family and domain databases
InterPro	IPR018524. DNA/RNA_endonuclease_AS. IPR001604. DNA/RNA_non-sp_Endonuclease. IPR020821. Extracellular_endonuc_su_A. [Graphical view]
Gene3D	G3DSA:3.40.570.10. Endonuclease. 1 hit.
KO	K01173.
Pfam	PF01223. Endonuclease_NS. 1 hit. [Graphical view]
SMART	SM00892. Endonuclease_NS. 1 hit. SM00477. NUC. 1 hit. [Graphical view]
PROSITE	PS01070. NUCLEASE_NON_SPEC. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	8189.
SOURCE	Search...

Entry information

Entry name

NUCG_HUMAN

Accession

Primary (citable) accession number: Q14249
Secondary accession number(s): Q5T281, Q9BSP2

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	January 11, 2011
Last modified:	January 25, 2012
This is version 100 of the entry and version 4 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.