SMARCAD1

Chr 4q22.3

SNF2 related chromatin remodeling ATPase with DExD box 1

Aliases:: ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015
MANE:: ENST00000354268.9

OMIM: 612761 ↗NCBI: 56916 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SMARCAD1 · Q9H4L7

v62025-08-01

Predicted Aligned Error matrix for SMARCAD1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.1/ 100

Low

1,026 residues

Confidence breakdown

Very high(≥ 90)19%
Confident(70–90)40%
Low(50–70)9%
Very low(< 50)31%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Ichthyosis and erythrokeratoderma
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Palmoplantar keratoderma and erythrokeratodermas
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

palmoplantar keratoderma-sclerodactyly syndrome
0.60
Absence of fingerprints - congenital milia
0.58
Adermatoglyphia
0.57
absence of fingerprints-congenital milia syndrome
0.43
Abnormality of the skeletal system
0.39
atrial fibrillation
0.38
type 2 diabetes mellitus
0.38
isolated congenital adermatoglyphia
0.37
Isolated adermatoglyphia
0.37
neurodegenerative disease
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1

Protein that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization (PubMed:22960744, PubMed:21820097). Combines the ATP-dependent ability to exchange histones, with the chaperone-like ATP-independent activity to deposit histones and assemble nucleosomes (PubMed:21820097). Promotes DNA end resection of double-strand breaks (DSBs) following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs (PubMed:22960744). Required for the restoration of heterochromatin organization after replication (PubMed:21549307). Acts at replication sites to facilitate the maintenance of heterochromatin by directing H3 and H4 histones deacetylation, H3 'Lys-9' trimethylation (H3K9me3) and restoration of silencing (PubMed:21549307)