SASH1

Chr 6q24.3-q25.1

SAM and SH3 domain containing 1

Aliases:: KIAA0790, dJ323M4.1, SH3D6A
MANE:: ENST00000367467.8

OMIM: 607955 ↗NCBI: 23328 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SASH1 · O94885

v62025-08-01

Predicted Aligned Error matrix for SASH1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

54.2/ 100

Low

1,247 residues

Confidence breakdown

Very high(≥ 90)17%
Confident(70–90)11%
Low(50–70)8%
Very low(< 50)64%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Pigmentary skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratoderma and erythrokeratodermas
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomal
Multiple monogenic benign skin tumours
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

Dyschromatosis universalis
0.75
pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
0.48
hypothyroidism
0.45
thyroid gland disorder
0.42
myxedema
0.39
glaucoma
0.39
open-angle glaucoma
0.39
cardiovascular disorder
0.38
familial generalized lentiginosis
0.37
Hashimoto thyroiditis
0.33

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

Protein function (UniProt)

SAM and SH3 domain-containing protein 1

Is a positive regulator of NF-kappa-B signaling downstream of TLR4 activation. It acts as a scaffold molecule to assemble a molecular complex that includes TRAF6, MAP3K7, CHUK and IKBKB, thereby facilitating NF-kappa-B signaling activation (PubMed:23776175). Regulates TRAF6 and MAP3K7 ubiquitination (PubMed:23776175). Involved in the regulation of cell mobility (PubMed:23333244, PubMed:23776175, PubMed:25315659). Regulates lipolysaccharide (LPS)-induced endothelial cell migration (PubMed:23776175). Is involved in the regulation of skin pigmentation through the control of melanocyte migration in the epidermis (PubMed:23333244)