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Aliases for SASH1 Gene

Aliases for SASH1 Gene

  • SAM And SH3 Domain Containing 1 2 3
  • Proline-Glutamate Repeat-Containing Protein 3 4
  • KIAA0790 4 6
  • SAM And SH3 Domain-Containing Protein 1 3
  • 2500002E12Rik 3
  • DJ323M4.1 3
  • DJ323M4 3
  • 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

GeneCards Summary for SASH1 Gene

SASH1 (SAM And SH3 Domain Containing 1) is a Protein Coding gene. 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

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

Genomics for SASH1 Gene

Regulatory Elements for SASH1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SASH1 Gene

148,212,114 bp from pter
148,552,050 bp from pter
339,937 bases
Plus strand

Genomic View for SASH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for SASH1 Gene at MOPED

Post-translational modifications for SASH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SASH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SASH1 Gene

Domains for SASH1 Gene

Gene Families for SASH1 Gene

  • SAMD :Sterile alpha motif (SAM) domain containing
  • SASH :SAM and SH3 domain containing

Suggested Antigen Peptide Sequences for SASH1 Gene

Graphical View of Domain Structure for InterPro Entry



  • O94885
  • Contains 2 SAM (sterile alpha motif) domains.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with SASH1: view

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

Gene Ontology (GO) - Molecular Function for SASH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
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

MGI mutant phenotypes for SASH1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with SASH1: view

Animal Model Products

miRNA for SASH1 Gene

miRTarBase miRNAs that target SASH1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SASH1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SASH1 Gene

Localization for SASH1 Gene

Subcellular locations from

Jensen Localization Image for SASH1 Gene COMPARTMENTS Subcellular localization image for SASH1 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for SASH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
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 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 for SASH1 Gene

Transcripts for SASH1 Gene

Unigene Clusters for SASH1 Gene

SAM and SH3 domain containing 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SASH1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry 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 for SASH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for SASH1 Gene

This gene is overexpressed in Cervix (54.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SASH1 Gene

SOURCE GeneReport for Unigene cluster for SASH1 Gene Hs.193133

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.
genes like me logo Genes that share expressions with SASH1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Expression partners 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
(Bos Taurus)
Mammalia SASH1 35
  • 86.69 (n)
  • 90.04 (a)
SASH1 36
  • 90 (a)
(Canis familiaris)
Mammalia SASH1 35
  • 87.37 (n)
  • 90.33 (a)
SASH1 36
  • 90 (a)
(Mus musculus)
Mammalia Sash1 35
  • 84.32 (n)
  • 87.55 (a)
Sash1 16
Sash1 36
  • 86 (a)
(Pan troglodytes)
Mammalia SASH1 35
  • 99.5 (n)
  • 99.34 (a)
SASH1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Sash1 35
  • 83.81 (n)
  • 87.65 (a)
(Monodelphis domestica)
Mammalia SASH1 36
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia SASH1 36
  • 76 (a)
(Gallus gallus)
Aves SASH1 35
  • 74.48 (n)
  • 77.67 (a)
SASH1 36
  • 69 (a)
(Anolis carolinensis)
Reptilia SASH1 36
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sash1 35
  • 64.69 (n)
  • 64.6 (a)
(Danio rerio)
Actinopterygii iktdsubc_2e1 35
sash1a 35
  • 63.1 (n)
  • 64.64 (a)
SASH1 (2 of 2) 36
  • 56 (a)
sash1a 36
  • 59 (a)
Species with no ortholog for SASH1:
  • 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

Selected 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 MAF
rs8641 -- 148,548,774(-) TTTGG(A/G)GGTCA utr-variant-3-prime
rs208692 -- 148,550,105(-) AGGTG(C/T)GGTGG utr-variant-3-prime
rs208695 -- 148,544,955(+) TGTCC(A/G)CACCT intron-variant
rs208696 - 148,544,121(+) GGAGC(A/G)AGACT reference, missense
rs754178 -- 148,455,311(-) ACACT(C/G)ATCTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv520615 CNV Gain 19592680
nsv830841 CNV Loss 17160897
esv1980460 CNV Deletion 18987734
esv2732847 CNV Deletion 23290073
esv24659 CNV Loss 19812545
esv275352 CNV Loss 21479260
esv272509 CNV Insertion 20981092
esv267703 CNV Insertion 20981092
nsv5528 CNV Loss 18451855
nsv5529 CNV Loss 18451855

Relevant External Links for SASH1 Gene

HapMap Linkage Disequilibrium report

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

Disorders for SASH1 Gene

Relevant External Links for SASH1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator

No disorders were found for SASH1 Gene.

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for SASH1 Gene

Publications for SASH1 Gene

  1. 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 Res. 1998) 2 3 4
  2. SASH1 - a candidate tumour suppressor gene on chromosome 6q24.3 is downregulated in breast cancer. (PMID: 12771949) Zeller C. … Scherneck S. (Oncogene 2003) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4

Products for SASH1 Gene

Sources for SASH1 Gene

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