SASH1 - SAM and SH3 domain containing 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23328

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables G-protein alpha-subunit binding	IDA IDA: Inferred from direct assay	23333244	GOA
enables mitogen-activated protein kinase kinase kinase binding	IDA IDA: Inferred from direct assay	23776175	GOA
enables molecular adaptor activity	IDA IDA: Inferred from direct assay	23776175	GOA
enables protein binding	IDA IDA: Inferred from direct assay	23776175	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15778465	GOA
enables protein kinase binding	IDA IDA: Inferred from direct assay	23776175	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within positive regulation of JUN kinase activity	IMP IMP: Inferred from mutant phenotype	23776175	GOA
acts upstream of or within positive regulation of angiogenesis	IMP IMP: Inferred from mutant phenotype	23776175	GOA
acts upstream of or within positive regulation of endothelial cell migration	IDA IDA: Inferred from direct assay	23776175	GOA
acts upstream of or within positive regulation of lipopolysaccharide-mediated signaling pathway	IMP IMP: Inferred from mutant phenotype	23776175	GOA
acts upstream of or within positive regulation of non-canonical NF-kappaB signal transduction	IMP IMP: Inferred from mutant phenotype	23776175	GOA
acts upstream of or within positive regulation of p38MAPK cascade	IMP IMP: Inferred from mutant phenotype	23776175	GOA
acts upstream of or within protein polyubiquitination	IDA IDA: Inferred from direct assay	23776175	GOA
involved in regulation of epithelial cell migration	IMP IMP: Inferred from mutant phenotype	23333244	GOA
acts upstream of or within regulation of protein K63-linked ubiquitination	IDA IDA: Inferred from direct assay	23776175	GOA
acts upstream of or within regulation of protein autoubiquitination	IDA IDA: Inferred from direct assay	23776175	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	23333244	GOA
part of protein-containing complex	IMP IMP: Inferred from mutant phenotype	23776175	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SASH1 Protein Structure

SLY

SH3_2

SAM_1

SAM_2

0
200
400
600
800
1000
1247 a.a.

Protein Preferred Names	Protein Names
SAM and SH3 domain-containing protein 1	proline-glutamate repeat-containing protein

SASH1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SASH1	O94885	SFN	Homo sapiens	P31947	TAP	15778465

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set	/	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
Others	SASH1	NCBI