SMARCAL1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1)

2006-10-01  

Identity

HGNC
SMARCAL1
LOCATION
2q35
LOCUSID
50485
ALIAS
HARP,HHARP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 50485
MIM: 606622
HGNC: 11102
Ensembl: ENSG00000138375

Variants:

dbSNP: 50485
ClinVar: 50485
TCGA: ENSG00000138375
COSMIC: SMARCAL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138375ENST00000357276Q9NZC9
ENSG00000138375ENST00000358207Q9NZC9
ENSG00000138375ENST00000392128H7BYI2
ENSG00000138375ENST00000412913C9JHQ1
ENSG00000138375ENST00000425815C9JS37
ENSG00000138375ENST00000427645H7C051
ENSG00000138375ENST00000430374C9J6I8
ENSG00000138375ENST00000434435C9JP32
ENSG00000138375ENST00000444508C9J8F8
ENSG00000138375ENST00000445153H7C1I3

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

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
384165702024CSB and SMARCAL1 compete for RPA32 at stalled forks and differentially control the fate of stalled forks in BRCA2-deficient cells.0
386974612024Oncogenic functions and therapeutic potentials of targeted inhibition of SMARCAL1 in small cell lung cancer.0
384165702024CSB and SMARCAL1 compete for RPA32 at stalled forks and differentially control the fate of stalled forks in BRCA2-deficient cells.0
386974612024Oncogenic functions and therapeutic potentials of targeted inhibition of SMARCAL1 in small cell lung cancer.0
366893422023Cancer-associated SMARCAL1 loss-of-function mutations promote alternative lengthening of telomeres and tumorigenesis in telomerase-negative glioblastoma cells.4
366893422023Cancer-associated SMARCAL1 loss-of-function mutations promote alternative lengthening of telomeres and tumorigenesis in telomerase-negative glioblastoma cells.4
352098262022Different Phenotypes of Schimke Immuno-Osseous Dysplasia (SIOD) in Two Sisters with the Same Mutation in the SMARCAL1 Gene.2
352098262022Different Phenotypes of Schimke Immuno-Osseous Dysplasia (SIOD) in Two Sisters with the Same Mutation in the SMARCAL1 Gene.2
340315132021A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.4
341036682021SMARCAL1 loss and alternative lengthening of telomeres (ALT) are enriched in giant cell glioblastoma.6
340315132021A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.4
341036682021SMARCAL1 loss and alternative lengthening of telomeres (ALT) are enriched in giant cell glioblastoma.6
327549812020SMARCAL1, the annealing helicase and the transcriptional co-regulator.6
329713282020Time for remodeling: SNF2-family DNA translocases in replication fork metabolism and human disease.15
327549812020SMARCAL1, the annealing helicase and the transcriptional co-regulator.6

Citation

Dessen P

SMARCAL1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43493/gene-fusions/favicon/teaching-explorer/