2. Gene
  3. SASH1 - SAM and SH3 domain containing 1 Gene

SASH1 - SAM and SH3 domain containing 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as DUH1; CAPOK; SH3D6A; dJ323M4.1

Gene ID: 23328 | Gene type: protein coding

About SASH1

Cytogenetic location: 6q24.3-q25.1 Genomic coordinates (GRCh38): 6:148,193,468-148,552,044 (from NCBI)

This gene has 10 transcripts (splice variants), 265 orthologues, 2 paralogues and is associated with 4 phenotypes. Broad expression in esophagus (RPKM 20.2), fat (RPKM 19.4) and 23 other tissues.

Summary

This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, Apoptosis, and invasion of Cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]

SASH1 Products(6)

mRNA Protein Name
NM_001346505.2 NP_001333434.1 SAM and SH3 domain-containing protein 1 isoform 2
NM_001346506.2 NP_001333435.1 SAM and SH3 domain-containing protein 1 isoform 3
NM_001346507.2 NP_001333436.1 SAM and SH3 domain-containing protein 1 isoform 4
NM_001346508.2 NP_001333437.1 SAM and SH3 domain-containing protein 1 isoform 5
NM_001346509.2 NP_001333438.1 SAM and SH3 domain-containing protein 1 isoform 6
NM_015278.5 NP_056093.3 SAM and SH3 domain-containing protein 1 isoform 1

SASH1 Protein Structure

SLY

SLY: Lymphocyte signaling adaptor protein (400 - 555)

SH3_2

SH3_2: Variant SH3 domain (558 - 610)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (635 - 693)

SAM_2

SAM_2: SAM domain (Sterile alpha motif) (1179 - 1237)

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  • 1247 a.a.
Protein Preferred Names Protein Names

SAM and SH3 domain-containing protein 1

proline-glutamate repeat-containing protein

Related Diseases

Diseases Alias
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma

CAPOK

Capok Syndrome

Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome
Dyschromatosis Universalis Hereditaria 1

DUH1

Dyschromatosis Universalis Hereditaria, Type 1
Lentiginosis, Inherited Patterned

Lentiginosis Profusa

Lentiginosis, Generalized

Lentiginosis, Diffuse

Familial Generalized Lentiginosis

Familial Lentigines Profusa

Familial Multiple Lentigines Syndrome Without Systemic Involvement
Alopecia
Palmoplantar Keratosis

Palmoplantar Keratoderma

Keratosis Palmaris Et Plantaris

Palmo-Plantar Keratodermas

Keratoderma, Palmoplantar

Keratoderma Palmoplantar

Keratoderma, Palmoplantar, Diffuse

Hyperkeratosis Of Palms And Soles

Palmoplantar Hyperkeratosis
Dyschromatosis Universalis Hereditaria

Duh
Reticulate Acropigmentation Of Kitamura

RAK

Acropigmentatio Reticularis

Reticulate Pigmentation Of Kitamura

Rpk

Kitamura Reticulate Acropigmentation

Rapk
Dyschromatosis Symmetrica Hereditaria

Dyschromatosis Symmetrica Hereditaria 1

Reticulate Acropigmentation Of Dohi

DSH

Dsh1

Symmetric Dyschromatosis Of The Extremities

Rad

Familial Reticulate Acropigmentation Of Dohi

Acropigmentation Of Dohi

Symmetrical Dyschromatosis Of Extremities
Trichohepatoenteric Syndrome 1

Trichohepatoenteric Syndrome

Syndromic Diarrhea

Tricho-Hepato-Enteric Syndrome

Sd/The

Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome

THES1

Phenotypic Diarrhea

Thes

Phenotypic Diarrhea Of Infancy

Diarrhea, Syndromic

Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa

Intractable Diarrhea With Phenotypic Anomalies

Syndromatic Diarrhea

Fatal Infantile Diarrhea With Trichorrhexis Nodosa
Vascular Skin Disease

Skin Diseases, Vascular

Skin Vascular Disease
Hairy Tongue

Overgrowth Of Filiform Papillae

Tongue, Hairy
Epidermolysis Bullosa Simplex 2f, With Mottled Pigmentation

Epidermolysis Bullosa Simplex With Mottled Pigmentation

Ebsmp

Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering

Ebs-Mp

EBS2F

Ebs With Mottled Pigmentation

Epidermolysis Bullosa Simplex-Mp

Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses And Childhood Blistering

Epidermolysis Bullosa Simplex, With Mottled Pigmentation
Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures

Dark Dot Disease

Reticulate Acropigmentation Of Kitamura

Dowling-Degos Kitamura Disease

Kitamura Reticulate Acropigmentation

Ddd

Dowling-Degos-Kitamura Disease

Reticular Pigmented Anomaly Of Flexures
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS12452 SASH1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SASH1 RGD RGD:1566017
Macaca mulatta SASH1 VGNC VGNC:77052
Bos taurus SASH1 VGNC VGNC:34293
Mus musculus SASH1 MGD MGI:1917347
Canis familiaris SASH1 VGNC VGNC:45871
Felis catus SASH1 VGNC VGNC:64878