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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. GO annotations related to this gene include protein kinase binding and protein complex scaffold. 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

Regulatory Elements for SASH1 Gene

Enhancers for SASH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H148362 1.6 FANTOM5 Ensembl ENCODE dbSUPER 17.6 +173.0 173031 7.4 PKNOX1 JUN MAX RAD21 NR2F2 ZNF7 YY1 JUND PRDM6 POLR2A SASH1 GC06M148368 ENSG00000224658
GH06H148304 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +112.7 112687 3.3 PKNOX1 FOXA2 NFIB ZNF366 FOS RCOR1 USF2 ZNF217 SAP130 JUN ENSG00000224658 RNU6-1222P SASH1 GC06M148368
GH06H148341 1.3 ENCODE dbSUPER 10.3 +149.9 149881 4.6 PKNOX1 FOXA2 ARID4B FEZF1 DMAP1 YY1 SLC30A9 MXD4 REST PPARGC1A SASH1 GC06M148368 ENSG00000224658
GH06H148243 1 FANTOM5 Ensembl ENCODE 11.4 +51.3 51296 2.2 ZSCAN4 MNT RNU6-1222P SASH1 GC06P148279
GH06H148328 1.4 FANTOM5 Ensembl ENCODE dbSUPER 7.8 +136.4 136410 2 JUND POLR2A CEBPB CEBPG NR2F6 ATF2 SASH1 GC06M148368 ENSG00000224658
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SASH1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SASH1 Gene

Genomic Locations for SASH1 Gene
358,611 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: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 complex scaffold IDA 23776175
genes like me logo Genes that share ontologies with SASH1: view

Phenotypes for SASH1 Gene

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

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:0043234 protein 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: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
GO:0045766 positive regulation of angiogenesis 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

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, PaxDb, 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 33 34
  • 99.5 (n)
(Canis familiaris)
Mammalia SASH1 33 34
  • 87.37 (n)
(Bos Taurus)
Mammalia SASH1 33 34
  • 86.69 (n)
(Mus musculus)
Mammalia Sash1 33 16 34
  • 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 33 34
  • 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 33 34
  • 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)

Paralogs for SASH1 Gene

Paralogs for SASH1 Gene

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

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 Sequence Context AA Info Type
rs587781245 Likely pathogenic 148,533,885(+) AAGAC(A/G)AGGAG reference, missense
rs1000000673 -- 148,230,198(+) GCACC(A/G)CAATT intron-variant
rs1000030921 -- 148,477,224(+) TACAT(A/C)ATGTT intron-variant
rs1000032641 -- 148,250,658(+) TTCCT(A/G)TTGAA intron-variant
rs1000037541 -- 148,336,816(+) AAGTT(A/G)AGTTT intron-variant

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

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

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)

Relevant External Links for SASH1 Gene

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

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

Relevant External Links for SASH1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) 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 60
  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 60
  3. A genome-wide association study for diabetic nephropathy genes in African Americans. (PMID: 21150874) McDonough CW … Bowden DW (Kidney international 2011) 3 45 60
  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 45 60
  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 45 60

Products for SASH1 Gene

Sources for SASH1 Gene

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