SLX4 (SLX4 structure-specific endonuclease subunit)

2010-09-01  

Identity

HGNC
SLX4
LOCATION
16p13.3
LOCUSID
84464
ALIAS
BTBD12,FANCP,MUS312
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84464
MIM: 613278
HGNC: 23845
Ensembl: ENSG00000188827

Variants:

dbSNP: 84464
ClinVar: 84464
TCGA: ENSG00000188827
COSMIC: SLX4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188827ENST00000294008Q8IY92

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Fanconi anemia pathwayKEGGko03460
Fanconi anemia pathwayKEGGhsa03460
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
HDR through Homologous Recombination (HRR)REACTOMER-HSA-5685942
Resolution of D-Loop StructuresREACTOMER-HSA-5693537
Resolution of D-loop Structures through Holliday Junction IntermediatesREACTOMER-HSA-5693568
Fanconi Anemia PathwayREACTOMER-HSA-6783310

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
195962352009Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair.227
195962362009Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases.205
195962362009Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases.205
212402752011Mutations of the SLX4 gene in Fanconi anemia.161
212402772011SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype.154
240762212013Coordinated actions of SLX1-SLX4 and MUS81-EME1 for Holliday junction resolution in human cells.104
244126502014Premature activation of the SLX4 complex by Vpr promotes G2/M arrest and escape from innate immune sensing.95
195957222009Drosophila MUS312 and the vertebrate ortholog BTBD12 interact with DNA structure-specific endonucleases in DNA repair and recombination.89
230936182013Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4.77
240804952013Human GEN1 and the SLX4-associated nucleases MUS81 and SLX1 are essential for the resolution of replication-induced Holliday junctions.61

Citation

Dessen P

SLX4 (SLX4 structure-specific endonuclease subunit)

Atlas Genet Cytogenet Oncol Haematol. 2010-09-01

Online version: http://atlasgeneticsoncology.org/gene/51673/slx4-(slx4-structure-specific-endonuclease-subunit)