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 ha... See more...

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 4
  • DJ323M4.1 2 3
  • KIAA0790 2 4
  • SH3D6A 2 3
  • CAPOK 3
  • SASH1 5
  • PEPE1 4
  • DUH1 3

External Ids for SASH1 Gene

Previous GeneCards Identifiers for SASH1 Gene

  • GC06P148598
  • GC06P148644
  • GC06P148705
  • GC06P148635
  • GC06P146228
  • GC06P148593
  • GC06P148212

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 Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma and Dyschromatosis Universalis Hereditaria 1. 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 Summary for SASH1 Gene

  • Is a positive regulator of NF-kappa-B signaling downstream of TLR4 activation. It acts as a scaffold molecule to assemble a molecular complex that includes TRAF6, MAP3K7, CHUK and IKBKB, thereby facilitating NF-kappa-B signaling activation (PubMed:23776175). Regulates TRAF6 and MAP3K7 ubiquitination (PubMed:23776175). Involved in the regulation of cell mobility (PubMed:23333244, PubMed:23776175, PubMed:25315659). Regulates lipolysaccharide (LPS)-induced endothelial cell migration (PubMed:23776175). Is involved in the regulation of skin pigmentation through the control of melanocyte migration in the epidermis (PubMed:23333244).

Gene Wiki entry for SASH1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SASH1 Gene

Genomics for SASH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SASH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
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 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 260.3 +150.1 150064 5 ZSCAN16 MXD4 FEZF1 CEBPA ZNF217 NONO ZIC2 HOMEZ THAP11 CEBPB SASH1 RF00017-5837 ENSG00000224658 UST
GH06J147660 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 250 -532.5 -532539 1.4 CHD2 TBP BRCA1 SMAD5 MBD2 NONO HOMEZ ARNT SIN3B VEZF1 ENSG00000227681 SASH1 SAMD5 piR-48325-126
GH06J148271 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE CraniofacialAtlas 250.2 +78.8 78833 2.3 JUND POLR2A EP300 CEBPB FOS RF00017-5835 SASH1 RF00017-5834 ENSG00000224658 UST
GH06J148190 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 254.8 -0.9 -903 3.5 ZNF217 MBD2 RXRA CTBP1 ZNF316 NFE2 SMARCE1 FOXA1 MAFG MAFF SASH1 HSALNG0054209 lnc-ZC3H12D-17 SAMD5
GH06J148212 Promoter 0.6 EPDnew 250.4 +18.7 18663 0.1 NFE2 NFE2L2 MAFG SASH1 piR-50443-330 lnc-ZC3H12D-17 UST
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SASH1

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

Genomic Locations for SASH1 Gene

Latest Assembly
chr6:148,193,440-148,552,049
(GRCh38/hg38)
Size:
358,610 bases
Orientation:
Plus strand

Previous Assembly
chr6:148,593,464-148,873,180
(GRCh37/hg19 by Entrez Gene)
Size:
279,717 bases
Orientation:
Plus strand

chr6:148,593,440-148,873,186
(GRCh37/hg19 by Ensembl)
Size:
279,747 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:
    • Interacts with GNAS (PubMed:23333244). Interacts with IQGAP1 (PubMed:23333244). Interacts with TRAF6 (via C-terminus); the interaction is LPS-dependent (PubMed:23776175). Interacts with MAP3K7, CHUK and IKBKB (PubMed:23776175).
    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

Post-translational modifications for SASH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for SASH1
  • Boster Bio Antibodies for SASH1
  • Santa Cruz Biotechnology (SCBT) Antibodies for SASH1

No data available for DME Specific Peptides for SASH1 Gene

Domains & Families for SASH1 Gene

Gene Families for SASH1 Gene

Protein Domains for SASH1 Gene

InterPro:
Blocks:
  • Sterile alpha motif SAM
  • Sterile alpha motif homology 2
  • SH3 domain signature
  • Variant SH3
ProtoNet:

Suggested Antigen Peptide Sequences for SASH1 Gene

GenScript: Design optimal peptide antigens:
  • SASH1 protein (Q6P4R9_HUMAN)
  • Proline-glutamate repeat-containing protein (SASH1_HUMAN)
genes like me logo Genes that share domains with SASH1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SASH1 Gene

Function for SASH1 Gene

Molecular function for SASH1 Gene

UniProtKB/Swiss-Prot Function:
Is a positive regulator of NF-kappa-B signaling downstream of TLR4 activation. It acts as a scaffold molecule to assemble a molecular complex that includes TRAF6, MAP3K7, CHUK and IKBKB, thereby facilitating NF-kappa-B signaling activation (PubMed:23776175). Regulates TRAF6 and MAP3K7 ubiquitination (PubMed:23776175). Involved in the regulation of cell mobility (PubMed:23333244, PubMed:23776175, PubMed:25315659). Regulates lipolysaccharide (LPS)-induced endothelial cell migration (PubMed:23776175). Is involved in the regulation of skin pigmentation through the control of melanocyte migration in the epidermis (PubMed:23333244).

Phenotypes From GWAS Catalog for SASH1 Gene

Gene Ontology (GO) - Molecular Function for SASH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001965 G-protein alpha-subunit binding IDA 23333244
GO:0005515 protein binding IEA,IPI 23333244
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
genes like me logo Genes that share ontologies with SASH1: view
genes like me logo Genes that share phenotypes with SASH1: view

Human Phenotype Ontology for SASH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SASH1

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

Localization for SASH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SASH1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

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:0005737 cytoplasm IEA,IDA 23333244
GO:0032991 protein-containing complex IMP 23776175
genes like me logo Genes that share ontologies with SASH1: view

Pathways & Interactions for SASH1 Gene

PathCards logo

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:0010632 regulation of epithelial cell migration IMP 23333244
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

6 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SASH1

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

Expression for SASH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SASH1

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. Expressed in the epidermis, epidermal keratinocytes, dermal fibroblasts and melanocytes (PubMed:23333244, PubMed:26203640).

Evidence on tissue expression from TISSUES for SASH1 Gene

  • Nervous system(4.8)
  • Thyroid gland(4.4)
  • Skin(4.4)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with SASH1: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia SASH1 30 31
  • 99.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SASH1 30 31
  • 87.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SASH1 30 31
  • 86.69 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sash1 30 17 31
  • 84.32 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sash1 30
  • 83.81 (n)
Oppossum
(Monodelphis domestica)
Mammalia SASH1 31
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SASH1 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SASH1 30 31
  • 74.48 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SASH1 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sash1 30
  • 64.69 (n)
Zebrafish
(Danio rerio)
Actinopterygii sash1a 30 31
  • 63.1 (n)
OneToMany
SASH1 (2 of 2) 31
  • 56 (a)
OneToMany
iktdsubc_2e1 30
Species where no ortholog for SASH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
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:

  • SASH1_HUMAN
  • L8EAS6_HUMAN
  • Q5TGN6_HUMAN
  • Q6P4R9_HUMAN
genes like me logo Genes that share paralogs with SASH1: view

Variants for SASH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SASH1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
872147 Uncertain Significance: not provided 148,544,706(+) C/T
NM_015278.5(SASH1):c.3236C>T (p.Pro1079Leu)
MISSENSE
985506 Uncertain Significance: Inborn genetic diseases 148,531,625(+) A/G
NM_015278.5(SASH1):c.1528A>G (p.Ser510Gly)
MISSENSE
993666 Uncertain Significance: none provided 148,544,421(+) C/T
NM_015278.5(SASH1):c.2951C>T (p.Pro984Leu)
MISSENSE
rs1237876014 Uncertain Significance: Dyschromatosis universalis hereditaria 1. Dyschromatosis universalis hereditaria 1 (DUH1) [MIM:127500] 148,531,634(+) A/Cp.Ser513Arg
NM_015278.5(SASH1):c.1537A>C (p.Ser513Arg)
MISSENSE
rs140316955 Benign: not provided 148,544,554(+) C/A
NM_015278.5(SASH1):c.3084C>A (p.Ser1028Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SASH1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
SASH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SASH1

SNP Genotyping and Copy Number Assays for research

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

Disorders for SASH1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SASH1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

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

UniProtKB/Swiss-Prot

SASH1_HUMAN
  • Dyschromatosis universalis hereditaria 1 (DUH1) [MIM:127500]: A form of dyschromatosis universalis, an autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. {ECO:0000269 PubMed:23333244, ECO:0000269 PubMed:26203640, ECO:0000269 PubMed:27659786, ECO:0000269 PubMed:27840890, ECO:0000269 PubMed:27885802, ECO:0000269 PubMed:29956681}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma (CAPOK) [MIM:618373]: An autosomal recessive genodermatosis characterized by hypo- and hyperpigmented macular skin lesions, progressive alopecia, palmoplantar keratoderma, dystrophic nails, teeth abnormalities and a predisposition to squamous cell carcinoma. {ECO:0000269 PubMed:25315659}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for SASH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SASH1: view

No data available for Genatlas for SASH1 Gene

Publications for SASH1 Gene

  1. A novel P53/POMC/Gαs/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation. (PMID: 27885802) Zhou D … Xing Q (Journal of cellular and molecular medicine 2017) 3 4 74
  2. Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination. (PMID: 27659786) Zhang J … Yao Z (Clinical genetics 2016) 3 4 74
  3. Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma. (PMID: 25315659) Courcet JB … Faivre L (European journal of human genetics : EJHG 2015) 3 4 74
  4. SASH1 regulates melanocyte transepithelial migration through a novel Gαs-SASH1-IQGAP1-E-Cadherin dependent pathway. (PMID: 23333244) Zhou D … Xing Q (Cellular signalling 2013) 3 4 74
  5. 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

Products for SASH1 Gene

Sources for SASH1 Gene