SMARCD1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1)

2003-05-01  

Identity

HGNC
LOCATION
12q13.12
LOCUSID
ALIAS
BAF60A,CRACD1,CSS11,Rsc6p
FUSION GENES

Other Information

Locus ID:

NCBI: 6602
MIM: 601735
HGNC: 11106
Ensembl: ENSG00000066117

Variants:

dbSNP: 6602
ClinVar: 6602
TCGA: ENSG00000066117
COSMIC: SMARCD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000066117ENST00000381513Q96GM5
ENSG00000066117ENST00000394963Q96GM5
ENSG00000066117ENST00000548573F8VRQ4
ENSG00000066117ENST00000549274H0YHV1
ENSG00000066117ENST00000550477F8VUB0
ENSG00000066117ENST00000551497F8VW95
ENSG00000066117ENST00000551966F8VZ70

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
RMTs methylate histone argininesREACTOMER-HSA-3214858

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
129173422003BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation.69
287165472017Cellular senescence regulated by SWI/SNF complex subunits through p53/p21 and p16/pRB pathway.10
197625452009Functional screening of FxxLF-like peptide motifs identifies SMARCD1/BAF60a as an androgen receptor cofactor that modulates TMPRSS2 expression.9
265428032016MicroRNA-7 Compromises p53 Protein-dependent Apoptosis by Controlling the Expression of the Chromatin Remodeling Factor SMARCD1.8
290791742017miR-223 potentially targets SWI/SNF complex protein SMARCD1 in atypical proliferative serous tumor and high-grade ovarian serous carcinoma.3
308796402019A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.3
305157872019BAF60A mediates interactions between the microphthalmia-associated transcription factor and the BRG1-containing SWI/SNF complex during melanocyte differentiation.1
253967342014Comprehensive analysis of the association of EGFR, CALM3 and SMARCD1 gene polymorphisms with BMD in Caucasian women.0

Citation

Dessen P

SMARCD1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42336/smarcd1-(swi-snf-related-matrix-associated-actin-dependent-regulator-of-chromatin-subfamily-d-member-1)