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

2006-10-01  

Identity

HGNC
LOCATION
2q35
LOCUSID
ALIAS
HARP,HHARP
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

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/js/lib/css/favicon/favicon-16x16.png