SMARCAD1 (SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1)

2006-10-01  

Identity

HGNC
SMARCAD1
LOCATION
4q22.3
LOCUSID
56916
ALIAS
ADERM,BASNS,ETL1,HEL1,HRZ
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 56916
MIM: 612761
HGNC: 18398
Ensembl: ENSG00000163104

Variants:

dbSNP: 56916
ClinVar: 56916
TCGA: ENSG00000163104
COSMIC: SMARCAD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163104ENST00000354268Q9H4L7
ENSG00000163104ENST00000359052Q9H4L7
ENSG00000163104ENST00000394961F8W9M2
ENSG00000163104ENST00000457823Q9H4L7
ENSG00000163104ENST00000509418Q9H4L7
ENSG00000163104ENST00000510105D6RAY8

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

Pathways

PathwaySourceExternal ID
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
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
229607442012The yeast Fun30 and human SMARCAD1 chromatin remodellers promote DNA end resection.113
215493072011Maintenance of silent chromatin through replication requires SWI/SNF-like chromatin remodeler SMARCAD1.71
272397952016Human BRCA1-BARD1 ubiquitin ligase activity counteracts chromatin barriers to DNA resection.69
186752752008The novel protein complex with SMARCAD1/KIAA1122 binds to the vicinity of TSS.19
298991412018Nucleosomes around a mismatched base pair are excluded via an Msh2-dependent reaction with the aid of SNF2 family ATPase Smarcad1.10
218200972007Short-term exposure of multipotent stromal cells to low oxygen increases their expression of CX3CR1 and CXCR4 and their engraftment in vivo.7
272325332016SMARCAD1 knockdown uncovers its role in breast cancer cell migration, invasion, and metastasis.5
292846782018The CUE1 domain of the SNF2-like chromatin remodeler SMARCAD1 mediates its association with KRAB-associated protein 1 (KAP1) and KAP1 target genes.5
312042522019A Ubiquitin-Binding Domain that Binds a Structural Fold Distinct from that of Ubiquitin.4
269321902016Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome.2

Citation

Dessen P

SMARCAD1 (SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43492/smarcad1