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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
  • 2500002E12Rik 3
  • DJ323M4.1 3
  • KIAA0790 4
  • 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. Diseases associated with SASH1 include familial generalized lentiginosis. 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

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

Genomic Location for SASH1 Gene

Chromosome:
6
Start:
148,193,440 bp from pter
End:
148,552,050 bp from pter
Size:
358,611 bases
Orientation:
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:
    O94885-SASH1_HUMAN
    Recommended name:
    SAM and SH3 domain-containing protein 1
    Protein Accession:
    O94885
    Secondary Accessions:
    • Q5TGN5
    • Q8TAI0
    • Q9H7R7

    Protein attributes for SASH1 Gene

    Size:
    1247 amino acids
    Molecular mass:
    136653 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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 & Families for SASH1 Gene

Suggested Antigen Peptide Sequences for SASH1 Gene

Graphical View of Domain Structure for InterPro Entry

O94885

UniProtKB/Swiss-Prot:

SASH1_HUMAN :
  • Contains 2 SAM (sterile alpha motif) domains.
Domain:
  • 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: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

Animal Model 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

COMPARTMENTS
Jensen Localization Image for SASH1 Gene COMPARTMENTS Subcellular localization image for SASH1 gene
Compartment Confidence
nucleus 4
cytosol 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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:0043507 positive regulation of JUN kinase activity IMP 23776175
GO:1900044 regulation of protein K63-linked ubiquitination IDA 23776175
GO:1900745 positive regulation of p38MAPK cascade IMP 23776175
GO:1902498 regulation of protein autoubiquitination IDA 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:

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: -
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for SASH1 Gene

GeneLoc Exon Structure for
SASH1
ECgene alternative splicing isoforms for
SASH1

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 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, MOPED, and MaxQB for SASH1 Gene



SOURCE GeneReport for Unigene cluster for SASH1 Gene Hs.193133

mRNA Expression by UniProt/SwissProt for SASH1 Gene

O94885-SASH1_HUMAN
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 expression patterns with SASH1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-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
chimpanzee
(Pan troglodytes)
Mammalia SASH1 35
  • 99.5 (n)
  • 99.34 (a)
SASH1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SASH1 36
  • 90 (a)
OneToOne
SASH1 35
  • 86.69 (n)
  • 90.04 (a)
dog
(Canis familiaris)
Mammalia SASH1 35
  • 87.37 (n)
  • 90.33 (a)
SASH1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sash1 16
Sash1 35
  • 84.32 (n)
  • 87.55 (a)
Sash1 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SASH1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SASH1 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sash1 35
  • 83.81 (n)
  • 87.65 (a)
chicken
(Gallus gallus)
Aves SASH1 35
  • 74.48 (n)
  • 77.67 (a)
SASH1 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SASH1 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sash1 35
  • 64.69 (n)
  • 64.6 (a)
zebrafish
(Danio rerio)
Actinopterygii SASH1 (2 of 2) 36
  • 56 (a)
OneToMany
sash1a 36
  • 59 (a)
OneToMany
iktdsubc_2e1 35
sash1a 35
  • 63.1 (n)
  • 64.64 (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

ENSEMBL:
Gene Tree for SASH1 (if available)
TreeFam:
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
rs208692 -- 148,550,105(-) AGGTG(C/T)GGTGG utr-variant-3-prime
rs736337 -- 148,510,494(-) TAGAA(C/T)AGGTT intron-variant
rs754783 -- 148,453,286(+) CCTGC(A/G)TAAGA intron-variant
rs1022543 -- 148,437,723(+) cttta(A/G)aaaaa intron-variant
rs1022544 -- 148,450,829(+) gccct(A/G)cctga 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

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

HapMap Linkage Disequilibrium report
SASH1
Human Gene Mutation Database (HGMD)
SASH1

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

Disorders for SASH1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SASH1 Gene - From: Orphanet

Disorder Aliases PubMed IDs
familial generalized lentiginosis
  • familial lentigines profusa
- 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)
SASH1
Human Genome Epidemiology (HuGE) Navigator
SASH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SASH1
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 tumour suppressor gene on chromosome 6q24.3 is downregulated in breast cancer. (PMID: 12771949) Zeller C. … Scherneck S. (Oncogene 2003) 2 3 4 67
  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 Res. 1998) 2 3
  3. Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma. (PMID: 25315659) Courcet J.B. … Faivre L. (Eur. J. Hum. Genet. 2014) 3
  4. Genome-wide association study of smoking behaviours among Bangladeshi adults. (PMID: 24665060) Argos M. … Ahsan H. (J. Med. Genet. 2014) 3
  5. Promoter methylation assay of SASH1 gene in breast cancer. (PMID: 24344014) Sheyu L. … Lin H. (J BUON 2013) 3

Products for SASH1 Gene

Sources for SASH1 Gene

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