DCLRE1A (DNA cross-link repair 1A)

2003-12-01  

Identity

HGNC
DCLRE1A
LOCATION
10q25.3
LOCUSID
9937
ALIAS
PSO2,SNM1,SNM1A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9937
MIM: 609682
HGNC: 17660
Ensembl: ENSG00000198924

Variants:

dbSNP: 9937
ClinVar: 9937
TCGA: ENSG00000198924
COSMIC: DCLRE1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198924ENST00000361384Q6PJP8
ENSG00000198924ENST00000369305Q6PJP8

Expression (GTEx)

0
5
10
15
20
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
DNA RepairREACTOMER-HSA-73894
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
218966582011Human SNM1A and XPF-ERCC1 collaborate to initiate DNA interstrand cross-link repair.71
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
180063882008Human SNM1A suppresses the DNA repair defects of yeast pso2 mutants.35
203855542010RAD18-dependent recruitment of SNM1A to DNA repair complexes by a ubiquitin-binding zinc finger.30
178044642007The hSNM1 protein is a DNA 5'-exonuclease.23
286070042017RPA activates the XPF-ERCC1 endonuclease to initiate processing of DNA interstrand crosslinks.23
226922012012Characterization of the human SNM1A and SNM1B/Apollo DNA repair exonucleases.21
124467822002hSnm1 colocalizes and physically associates with 53BP1 before and after DNA damage.18
155428522004Deficiency in SNM1 abolishes an early mitotic checkpoint induced by spindle stress.17
181801892008Mammalian SNM1 is required for genome stability.14

Citation

Dessen P

DCLRE1A (DNA cross-link repair 1A)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40271/dclre1a