SMARCA1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1)

2003-05-01 Affiliation

Identity

HGNC

SMARCA1

LOCATION

Xq25

LOCUSID

6594

ALIAS

ISWI,NURF140,SNF2L,SNF2L1,SNF2LB,SNF2LT,SWI,SWI2,hSNF2L

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6594
MIM: 300012
HGNC: 11097
Ensembl: ENSG00000102038

Variants:

dbSNP: 6594
ClinVar: 6594
TCGA: ENSG00000102038
COSMIC: SMARCA1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000102038	ENST00000371121	B7ZLQ5
ENSG00000102038	ENST00000371122	P28370
ENSG00000102038	ENST00000371123	A0A0A0MRP6

Expression (GTEx)

100

150

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

References

Pubmed ID	Year	Title	Citations
37725664	2023	The lncRNA MIR99AHG directs alternative splicing of SMARCA1 by PTBP1 to enable invadopodia formation in colorectal cancer cells.	2
37725664	2023	The lncRNA MIR99AHG directs alternative splicing of SMARCA1 by PTBP1 to enable invadopodia formation in colorectal cancer cells.	2
36126083	2022	A pan-cancer bioinformatic analysis of the carcinogenic role of SMARCA1 in human carcinomas.	3
36126083	2022	A pan-cancer bioinformatic analysis of the carcinogenic role of SMARCA1 in human carcinomas.	3
30922402	2019	Circular RNA circ-DONSON facilitates gastric cancer growth and invasion via NURF complex dependent activation of transcription factor SOX4.	129
31376231	2019	Whole-genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome.	8
30922402	2019	Circular RNA circ-DONSON facilitates gastric cancer growth and invasion via NURF complex dependent activation of transcription factor SOX4.	129
31376231	2019	Whole-genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome.	8
30098595	2018	LncRNA DLEU1 contributes to colorectal cancer progression via activation of KPNA3.	74
30098595	2018	LncRNA DLEU1 contributes to colorectal cancer progression via activation of KPNA3.	74
27001614	2016	Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.	47
27001614	2016	Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.	47
25462860	2015	Frequent involvement of chromatin remodeler alterations in gastric field cancerization.	31
25462860	2015	Frequent involvement of chromatin remodeler alterations in gastric field cancerization.	31
23549828	2013	Human SNF2L gene is regulated constitutively and inducibly in neural cells via a cAMP-response element.	0

Citation

Dessen P

SMARCA1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42330/smarca1-(swi-snf-related-matrix-associated-actin-dependent-regulator-of-chromatin-subfamily-a-member-1)