Reviewed, UniProtKB/Swiss-Prot A4GXA9 (EME2_HUMAN)

Names and origin

Protein names

Recommended name:
    Probable crossover junction endonuclease EME2
    EC=3.1.22.-

Gene names

Name:

EME2

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	379 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Interacts with MUS81 to form a DNA structure-specific endonuclease which cleaves substrates such as 3'-flap structures. Ref.1
Subunit structure	Interacts with MUS81. Ref.1
Subcellular location	Nucleus Probable.
Sequence similarities	Belongs to the EME1/MMS4 family.
Sequence caution	The sequence AAK61292.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	DNA damage DNA recombination DNA repair
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Molecular function	Endonuclease Hydrolase Nuclease
Gene Ontology (GO)
Biological process	DNA recombination Inferred from electronic annotation. Source: UniProtKB-KW DNA repair Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	DNA binding Inferred from electronic annotation. Source: InterPro endonuclease activity Inferred from electronic annotation. Source: UniProtKB-KW protein binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: A4GXA9-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: A4GXA9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-134: Missing.
     135-190: AAGEQELLLL...AVIGLDAYLW → MPTAGLAGTG...SGEEWSPLLR
     222-228: Missing.
     268-274: Missing.
     353-353: A → ADLPVPPSEGGRPRR

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 379	379	Probable crossover junction endonuclease EME2		PRO_0000317373
Natural variations
	Alternative sequence	1 – 134	134	Missing in isoform 2.		VSP_030938
	Alternative sequence	135 – 190	56	AAGEQ…DAYLW → MPTAGLAGTGVQGRWAHFWG CCGTADPTSPGGLWQRPSSG RAGPMGSGEEWSPLLR in isoform 2.		VSP_030939
	Alternative sequence	222 – 228	7	Missing in isoform 2.		VSP_030940
	Alternative sequence	268 – 274	7	Missing in isoform 2.		VSP_030941
	Alternative sequence	353	1	A → ADLPVPPSEGGRPRR in isoform 2.		VSP_030942

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 5, 2008. Version 2. Checksum: E3638E99683F8B78	FASTA	379	41,207
	10 20 30 40 50 60 MARVGPGRAG VSCQGRGRGR GGSGQRRPPT WEISDSDAED SAGSEAAARA RDPAGERRAA 70 80 90 100 110 120 AEALRLLRPE QVLKRLAVCV DTAILEDAGA DVLMEALEAL GCECRIEPQR PARSLRWTRA 130 140 150 160 170 180 SPDPCPRSLP PEVWAAGEQE LLLLLEPEEF LQGVATLTQI SGPTHWVPWI SPETTARPHL 190 200 210 220 230 240 AVIGLDAYLW SRQHVSRGTQ QPESPKVAGA EVAVSWPEVE EVRACLSWAL VLLQLWANLD 250 260 270 280 290 300 VLLVASWQEL SRHVCAVTKA LAQYPLKGGR ITSRQYRESQ AFSFCTAGRW AAGEPVARDG 310 320 330 340 350 360 AGLQAAWRRQ IRQFSRVSPA VADAVVTAFP SPRLLQQALE ACSTERERMG LLAVGPDLSR 370 RICLFLTTAN PDLLLDLGS
	Isoform 2. Checksum: D8C3B561B6DE5CD8	FASTA	245	26,446
	10 20 30 40 50 60 MPTAGLAGTG VQGRWAHFWG CCGTADPTSP GGLWQRPSSG RAGPMGSGEE WSPLLRSRQH 70 80 90 100 110 120 VSRGTQQPES PKVAGAEVAV SWPEVEEALV LLQLWANLDV LLVASWQELS RHVCAVTKAL 130 140 150 160 170 180 AQYPLKQYRE SQAFSFCTAG RWAAGEPVAR DGAGLQAAWR RQIRQFSRVS PAVADAVVTA 190 200 210 220 230 240 FPSPRLLQQA LEACSTERER MGLLADLPVP PSEGGRPRRV GPDLSRRICL FLTTANPDLL LDLGS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM." Ciccia A., Ling C., Coulthard R., Yan Z., Xue Y., Meetei A.R., Laghmani el H., Joenje H., McDonald N., de Winter J.P., Wang W., West S.C. Mol. Cell 25:331-343(2007) [PubMed: 17289582] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INTERACTION WITH MUS81.
[2]	"Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones." Jikuya H., Takano J., Kikuno R., Hirosawa M., Nagase T., Nomura N., Ohara O. DNA Res. 10:49-57(2003) [PubMed: 12693554] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Spleen.
[3]	"Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16." Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R. Hum. Mol. Genet. 10:339-352(2001) [PubMed: 11157797] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Cross-references

Sequence databases
EMBLGenBankDDBJ	EF452422 mRNA. Translation: ABO21766.1. AK074080 mRNA. Translation: BAB84906.2. Different initiation. AE006639 Genomic DNA. Translation: AAK61292.1. Sequence problems.
IPI	IPI00174440. IPI00885210.
UniGene	Hs.7247
3D structure databases
ModBase	Search...
Organism-specific databases
GeneCards	GC16P001763.
HGNC	HGNC:27289. EME2.
MIM	610886. gene.
PharmGKB	PA134863517.
GenAtlas	Search...
Gene expression databases
CleanEx	HS_EME2.
Family and domain databases
InterPro	IPR006166. DNA_repair_nuc_XPF/helicase. [Graphical view]
Pfam	PF02732. ERCC4. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
SOURCE	Search...

Entry information

Entry name

EME2_HUMAN

Accession

Primary (citable) accession number: A4GXA9
Secondary accession number(s): Q8TEP2, Q96RY3

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 5, 2008
Last sequence update:	February 5, 2008
Last modified:	June 16, 2009
This is version 16 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)