Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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80198
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Gene name
Gene Name - the full gene name approved by the HGNC.
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MUS81 structure-specific endonuclease subunit |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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MUS81 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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SLX3 |
Chromosome
Chromosome number
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11 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11q13.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a structure-specific endonuclease which belongs to the XPF/MUS81 endonuclease family and plays a critical role in the resolution of recombination intermediates during DNA repair after inter-strand cross-links, replication fork collapse, |
UniProt ID |
Q96NY9
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Protein name |
Structure-specific endonuclease subunit MUS81 (EC 3.1.22.-) (Crossover junction endonuclease MUS81) (MUS81 endonuclease homolog) |
Protein function |
Catalytic subunit of two functionally distinct, structure-specific, heterodimeric DNA endonucleases MUS81-EME1 and MUS81-EME2 that are involved in the maintenance of genome stability (PubMed:11741546, PubMed:12374758, PubMed:12686547, PubMed:127 |
PDB |
2MC3
,
2ZIX
,
4P0P
,
4P0Q
,
4P0R
,
4P0S
,
6VWB
,
7BU5
,
7F6L
,
9F98
,
9F99
,
9F9A
,
9F9K
,
9F9L
,
9F9M
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02732
|
ERCC4 |
273 → 415 |
ERCC4 domain |
Domain |
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Tissue specificity |
TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11741546}. |
Sequence |
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Sequence length |
551 |
Interactions |
View interactions
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Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Cutis laxa |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB |
rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811, rs80356756, rs367543007, rs80356751, rs80356753, rs193302868, rs193302867, rs193302869, rs193302870, rs193302864, rs193302866, rs1566294545, rs397514683, rs794729201, rs752669339, rs863225044, rs863225045, rs886039351, rs745590426, rs144346996, rs1060505031, rs1028534806, rs1060505037, rs139751598, rs762218403, rs755867227, rs1555042727, rs888015688, rs1591064775, rs1598358440, rs752297179, rs1180294322 View all (31 more) |
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