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Aliases for SASH1 Gene

Aliases for SASH1 Gene

  • SAM And SH3 Domain Containing 1 2 3 5
  • Proline-Glutamate Repeat-Containing Protein 3 4
  • SAM And SH3 Domain-Containing Protein 1 3
  • DJ323M4.1 3
  • KIAA0790 4
  • SH3D6A 3
  • PEPE1 4

External Ids for SASH1 Gene

Previous GeneCards Identifiers for SASH1 Gene

  • GC06P148598
  • GC06P148644
  • GC06P148705
  • GC06P148635
  • GC06P146228
  • GC06P148593

Summaries for SASH1 Gene

Entrez Gene Summary for SASH1 Gene

  • 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]

GeneCards Summary for SASH1 Gene

SASH1 (SAM And SH3 Domain Containing 1) is a Protein Coding gene. Diseases associated with SASH1 include Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome and Lentiginosis, Inherited Patterned. Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein-containing complex scaffold activity. An important paralog of this gene is SAMSN1.

UniProtKB/Swiss-Prot for SASH1 Gene

  • May have a role in a signaling pathway. Could act as a tumor suppressor.

Gene Wiki entry for SASH1 Gene

Additional gene information for SASH1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SASH1 Gene

Genomics for SASH1 Gene

GeneHancer (GH) Regulatory Elements for SASH1 Gene

Promoters and enhancers for SASH1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J148341 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 660.3 +149.9 149881 4.6 PKNOX1 CLOCK FOXA2 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 MXD4 SASH1 GC06M148368 ENSG00000224658
GH06J148190 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 654.9 -0.9 -863 3.4 CLOCK BACH1 MAX CTBP1 GATA3 ZNF316 POLR2A FOSL2 NFE2 FOS SASH1 GC06P148145
GH06J147660 Promoter/Enhancer 1.4 EPDnew ENCODE 650 -532.8 -532780 0.2 HDGF SMAD1 ATF1 ARNT POLR2B ZNF766 GTF2B NCOA1 ZNF592 KAT8 ENSG00000227681 SASH1 GC06M147646 GC06P147624 SAMD5
GH06J148271 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 650.2 +78.8 78761 2.1 JUND POLR2A JUN FOS SASH1 GC06P148279 ENSG00000224658
GH06J148212 Promoter 0.7 EPDnew 650.4 +18.7 18663 0.1 MAFG NFE2 NFE2L2 SASH1 GC06P148279
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SASH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SASH1 gene promoter:
  • Pax-5
  • SRY
  • GATA-1
  • POU6F1 (c2)
  • LyF-1
  • Sox5
  • HFH-1
  • Sox9
  • ATF
  • FOXO4

Genomic Locations for SASH1 Gene

Genomic Locations for SASH1 Gene
358,611 bases
Plus strand
279,747 bases
Plus strand

Genomic View for SASH1 Gene

Genes around SASH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SASH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SASH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SASH1 Gene

Proteins for SASH1 Gene

  • Protein details for SASH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    SAM and SH3 domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • Q5TGN5
    • Q8TAI0
    • Q9H7R7

    Protein attributes for SASH1 Gene

    1247 amino acids
    Molecular mass:
    136653 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA34510.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14909.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SASH1 Gene

neXtProt entry for SASH1 Gene

Post-translational modifications for SASH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SASH1 Gene

Domains & Families for SASH1 Gene

Gene Families for SASH1 Gene

Suggested Antigen Peptide Sequences for SASH1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SASH1: view

No data available for UniProtKB/Swiss-Prot for SASH1 Gene

Function for SASH1 Gene

Molecular function for SASH1 Gene

UniProtKB/Swiss-Prot Function:
May have a role in a signaling pathway. Could act as a tumor suppressor.

Phenotypes From GWAS Catalog for SASH1 Gene

Gene Ontology (GO) - Molecular Function for SASH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0008022 protein C-terminus binding IDA 23776175
GO:0019901 protein kinase binding IDA 23776175
GO:0031435 mitogen-activated protein kinase kinase kinase binding IDA 23776175
GO:0032947 protein-containing complex scaffold activity IDA 23776175
genes like me logo Genes that share ontologies with SASH1: view
genes like me logo Genes that share phenotypes with SASH1: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SASH1 Gene

Localization for SASH1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SASH1 gene
Compartment Confidence
nucleus 4
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SASH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032991 protein-containing complex IMP 23776175
genes like me logo Genes that share ontologies with SASH1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SASH1 Gene

Pathways & Interactions for SASH1 Gene

SuperPathways for SASH1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SASH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 23776175
GO:0009966 regulation of signal transduction IBA --
GO:0010595 positive regulation of endothelial cell migration IDA 23776175
GO:0031666 positive regulation of lipopolysaccharide-mediated signaling pathway IMP 23776175
GO:0043507 positive regulation of JUN kinase activity IMP 23776175
genes like me logo Genes that share ontologies with SASH1: view

No data available for Pathways by source and SIGNOR curated interactions for SASH1 Gene

Drugs & Compounds for SASH1 Gene

No Compound Related Data Available

Transcripts for SASH1 Gene

mRNA/cDNA for SASH1 Gene

Unigene Clusters for SASH1 Gene

SAM and SH3 domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SASH1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c · 14d · 14e · 14f ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18a ·
SP1: - - - - - - - - -
SP2: - - -
SP3: - - - - - -
SP4: - - -
SP5: - -
SP6: -

ExUns: 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b
SP1: -
SP2: -

Relevant External Links for SASH1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SASH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SASH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SASH1 Gene

This gene is overexpressed in Cervix (54.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SASH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SASH1 Gene:


SOURCE GeneReport for Unigene cluster for SASH1 Gene:


mRNA Expression by UniProt/SwissProt for SASH1 Gene:

Tissue specificity: Expressed ubiquitously, with highest levels in lung, placenta, spleen and thymus. Down-regulated in the majority (74%) of breast tumors in comparison with corresponding normal breast epithelial tissues.

Evidence on tissue expression from TISSUES for SASH1 Gene

  • Nervous system(4.8)
  • Skin(4.3)
  • Thyroid gland(4.3)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with SASH1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SASH1 Gene

Orthologs for SASH1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SASH1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SASH1 34 33
  • 99.5 (n)
(Canis familiaris)
Mammalia SASH1 34 33
  • 87.37 (n)
(Bos Taurus)
Mammalia SASH1 34 33
  • 86.69 (n)
(Mus musculus)
Mammalia Sash1 16 34 33
  • 84.32 (n)
(Rattus norvegicus)
Mammalia Sash1 33
  • 83.81 (n)
(Monodelphis domestica)
Mammalia SASH1 34
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia SASH1 34
  • 76 (a)
(Gallus gallus)
Aves SASH1 34 33
  • 74.48 (n)
(Anolis carolinensis)
Reptilia SASH1 34
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sash1 33
  • 64.69 (n)
(Danio rerio)
Actinopterygii sash1a 34 33
  • 63.1 (n)
SASH1 (2 of 2) 34
  • 56 (a)
iktdsubc_2e1 33
Species where no ortholog for SASH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SASH1 Gene

Gene Tree for SASH1 (if available)
Gene Tree for SASH1 (if available)
Evolutionary constrained regions (ECRs) for SASH1: view image

Paralogs for SASH1 Gene

Paralogs for SASH1 Gene

(3) SIMAP similar genes for SASH1 Gene using alignment to 4 proteins:

  • Q6P4R9_HUMAN
genes like me logo Genes that share paralogs with SASH1: view

Variants for SASH1 Gene

Sequence variations from dbSNP and Humsavar for SASH1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs587781245 likely-pathogenic, Alopecia, Palmoplantar keratoderma, dyschromatosis, spino-cellular carcinoma, ungueal dystrophy 148,533,885(+) G/A coding_sequence_variant, missense_variant
rs1000000673 -- 148,230,198(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000030921 -- 148,477,224(+) C/A genic_upstream_transcript_variant, intron_variant
rs1000032641 -- 148,250,658(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000037541 -- 148,336,816(+) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SASH1 Gene

Variant ID Type Subtype PubMed ID
esv1980460 CNV deletion 18987734
esv24659 CNV loss 19812545
esv2732847 CNV deletion 23290073
esv275352 CNV loss 21479260
esv3303424 CNV mobile element insertion 20981092
esv3308235 CNV mobile element insertion 20981092
esv3338925 CNV insertion 20981092
esv3391758 CNV insertion 20981092
esv3436541 CNV insertion 20981092
esv3571444 CNV loss 25503493
esv3571445 CNV loss 25503493
esv3571446 CNV loss 25503493
esv3611190 CNV loss 21293372
esv3611191 CNV loss 21293372
nsv1073593 CNV deletion 25765185
nsv1116558 OTHER inversion 24896259
nsv1124129 CNV deletion 24896259
nsv1132022 CNV deletion 24896259
nsv1137160 CNV deletion 24896259
nsv1151525 CNV deletion 26484159
nsv520615 CNV gain 19592680
nsv5528 CNV deletion 18451855
nsv5529 CNV deletion 18451855
nsv604843 CNV loss 21841781
nsv830841 CNV loss 17160897

Variation tolerance for SASH1 Gene

Residual Variation Intolerance Score: 36.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.41; 94.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SASH1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SASH1 Gene

Disorders for SASH1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SASH1 Gene - From: HGMD, Orphanet, and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search SASH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SASH1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SASH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SASH1 Gene

Publications for SASH1 Gene

  1. SASH1: a candidate tumor suppressor gene on chromosome 6q24.3 is downregulated in breast cancer. (PMID: 12771949) Zeller C … Scherneck S (Oncogene 2003) 2 3 4 58
  2. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  3. A genome-wide association study for diabetic nephropathy genes in African Americans. (PMID: 21150874) McDonough CW … Bowden DW (Kidney international 2011) 3 44 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for SASH1 Gene

Sources for SASH1 Gene

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