SPRTN (SprT-like N-terminal domain)

2004-04-01  

Identity

HGNC
SPRTN
LOCATION
1q42.2
LOCUSID
83932
ALIAS
C1orf124,DVC1,PRO4323,spartan

Other Information

Locus ID:

NCBI: 83932
MIM: 616086
HGNC: 25356
Ensembl: ENSG00000010072

Variants:

dbSNP: 83932
ClinVar: 83932
TCGA: ENSG00000010072
COSMIC: SPRTN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000010072ENST00000008440Q9H040
ENSG00000010072ENST00000295050Q9H040
ENSG00000010072ENST00000295050A0A024R3U2
ENSG00000010072ENST00000366644B1AKT1
ENSG00000010072ENST00000391858Q9H040

Expression (GTEx)

0
5
10
15
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
DNA Damage BypassREACTOMER-HSA-73893
Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA templateREACTOMER-HSA-110313
Translesion Synthesis by POLHREACTOMER-HSA-110320

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
230426052012DVC1 (C1orf124) is a DNA damage-targeting p97 adaptor that promotes ubiquitin-dependent responses to replication blocks.67
230426072012DVC1 (C1orf124) recruits the p97 protein segregase to sites of DNA damage.67
252619342014Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.61
226818872012Spartan/C1orf124, a reader of PCNA ubiquitylation and a regulator of UV-induced DNA damage response.56
278713662016Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair.52
278713652016Mechanism and Regulation of DNA-Protein Crosslink Repair by the DNA-Dependent Metalloprotease SPRTN.48
229026282012Proliferating cell nuclear antigen (PCNA)-binding protein C1orf124 is a regulator of translesion synthesis.42
229870702012Characterization of human Spartan/C1orf124, an ubiquitin-PCNA interacting regulator of DNA damage tolerance.42
228949312012Spartan/C1orf124 is important to prevent UV-induced mutagenesis.34
278524352016SPRTN is a mammalian DNA-binding metalloprotease that resolves DNA-protein crosslinks.34

Citation

Dessen P

SPRTN (SprT-like N-terminal domain)

Atlas Genet Cytogenet Oncol Haematol. 2004-04-01

Online version: http://atlasgeneticsoncology.org/gene/40315/sprtn