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SASH1 SAM and SH3 domain containing 1 [ Homo sapiens (human) ]

Gene ID: 23328, updated on 9-Feb-2020

Summary

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Official Symbol
SASH1provided by HGNC
Official Full Name
SAM and SH3 domain containing 1provided by HGNC
Primary source
HGNC:HGNC:19182
See related
Ensembl:ENSG00000111961 MIM:607955
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DUH1; CAPOK; SH3D6A; dJ323M4.1
Summary
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]
Expression
Broad expression in esophagus (RPKM 20.2), fat (RPKM 19.4) and 23 other tissues See more
Orthologs
mouse all

Genomic context

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See SASH1 in Genome Data Viewer
Location:
6q24.3-q25.1
Exon count:
26
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (148193440..148552050)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (148663729..148873185)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378043 Neighboring gene sterile alpha motif domain containing 5 Neighboring gene uncharacterized LOC105378044 Neighboring gene RNA, U6 small nuclear 1222, pseudogene Neighboring gene cytochrome P450 family 51 subfamily A member 1 pseudogene 3 Neighboring gene meiotic recombination hotspot D Neighboring gene Sharpr-MPRA regulatory region 590 Neighboring gene SNRPE pseudogene 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Novel mutations in SASH1 associated with dyschromatosis universalis hereditaria. Zhong WL, et al. Indian J Dermatol Venereol Leprol, 2019 Jul-Aug. PMID 29956681
  2. Downregulated SASH1 expression indicates poor clinical prognosis in gastric cancer. Zhou N, et al. Hum Pathol, 2018 Apr. PMID 29320755
  3. Downregulation of SASH1 correlates with poor prognosis in cervical cancer. Xie J, et al. Eur Rev Med Pharmacol Sci, 2017 Oct. PMID 28975991
  4. Involvement of PI3K/Akt pathway in the inhibition of hepatocarcinoma cell invasion and metastasis induced by SASH1 through downregulating Shh-Gli1 signaling. Sun C, et al. Int J Biochem Cell Biol, 2017 Aug. PMID 28600143
  5. A Novel De novo Mutation of the SASH1 Gene in a Chinese Family with Multiple Lentigines. Wang J, et al. Acta Derm Venereol, 2017 Apr 6. PMID 27840890

See all (57) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These data further confirm that the SLY domain is critical for mediation of melanogenesis and suggest that Y551 may be a mutation hotspot for dyschromatosis universalis hereditaria. The p.M595T is the first heterozygous missense mutation reported in the SH3 domain.
    Title: Novel mutations in <i>SASH1</i> associated with dyschromatosis universalis hereditaria.
  2. SASH1 is an inhibitor of CRKL-mediated SRC signaling.
    Title: The Tumor Suppressor SASH1 Interacts With the Signal Adaptor CRKL to Inhibit Epithelial-Mesenchymal Transition and Metastasis in Colorectal Cancer.
  3. Our clinical findings suggest that downregulated SASH1 expression could be used as an independent biomarker for poor prognosis in gastric carcinoma.
    Title: Downregulated SASH1 expression indicates poor clinical prognosis in gastric cancer.
  4. that SASH1 was a target gene of miR-17
    Title: MicroRNA-17 promotes osteosarcoma cells proliferation and migration and inhibits apoptosis by regulating SASH1 expression.
  5. findings suggested that SASH1 can be useful as a new prognostic marker and therapeutic target in cervical cancer patients.
    Title: Downregulation of SASH1 correlates with poor prognosis in cervical cancer.
  6. Data show that SAM and SH3 domain containing 1 protein (SASH1) binds with mitogen-activated protein kinase kinase 2 (MAP2K2), and SASH1 mutations promote binding between SASH1 and MAP2K2.
    Title: p53 regulates ERK1/2/CREB cascade via a novel SASH1/MAP2K2 crosstalk to induce hyperpigmentation.
  7. SASH1 is prognostic in breast cancer and could have subtype-dependent effects on breast cancer progression.
    Title: SASH1 mediates sensitivity of breast cancer cells to chloropyramine and is associated with prognosis in breast cancer.
  8. SASH1 may inhibit hepatocarcinoma cell invasion and metastasis through down-regulating the Shh-Gli1 and PI3K-AKT pathways
    Title: Involvement of PI3K/Akt pathway in the inhibition of hepatocarcinoma cell invasion and metastasis induced by SASH1 through downregulating Shh-Gli1 signaling.
  9. Case Report: SASH1 missense mutation in a Chinese Family with multiple lentigines.
    Title: A Novel De novo Mutation of the SASH1 Gene in a Chinese Family with Multiple Lentigines.
  10. SASH1 acts through NOTCH1 and its inhibitor DLK1 in a three-dimensional model of lumenogenesis involving CEACAM1.
    Title: The adaptor SASH1 acts through NOTCH1 and its inhibitor DLK1 in a 3D model of lumenogenesis involving CEACAM1.
Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA
MedGen: CN258269 OMIM: 618373 GeneReviews: Not available
not available
Dyschromatosis universalis hereditaria 1
MedGen: C2675711 OMIM: 127500 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
A genome-wide association study for diabetic nephropathy genes in African Americans.
NHGRI GWA Catalog
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
NHGRI GWA Catalog
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
NHGRI GWA Catalog
Common genetic variation and the control of HIV-1 in humans.
NHGRI GWA Catalog
Genome-wide association study of smoking behaviours among Bangladeshi adults.
NHGRI GWA Catalog
Genome-wide scan of copy number variation in late-onset Alzheimer's disease.
NHGRI GWA Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0790

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-protein alpha-subunit binding IDA
Inferred from Direct Assay
more info
 PubMed 
mitogen-activated protein kinase kinase kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
mitogen-activated protein kinase kinase kinase binding IDA
Inferred from Direct Assay
more info
 PubMed 
molecular adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
protein C-terminus binding IDA
Inferred from Direct Assay
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
protein kinase binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
positive regulation of JUN kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
positive regulation of JUN kinase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
positive regulation of NIK/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
positive regulation of NIK/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
positive regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
positive regulation of endothelial cell migration IDA
Inferred from Direct Assay
more info
 PubMed 
positive regulation of lipopolysaccharide-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
positive regulation of p38MAPK cascade IMP
Inferred from Mutant Phenotype
more info
 PubMed 
protein polyubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
regulation of epithelial cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
regulation of protein K63-linked ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
regulation of protein autoubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
protein-containing complex IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
SAM and SH3 domain-containing protein 1
Names
proline-glutamate repeat-containing protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051927.1 RefSeqGene

    Range
    75563..284769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001346505.2 → NP_001333434.1  SAM and SH3 domain-containing protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AI632133, AL033378, AL513164

  2. NM_001346506.2 → NP_001333435.1  SAM and SH3 domain-containing protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AI632133, AL033378, AL513164

  3. NM_001346507.2 → NP_001333436.1  SAM and SH3 domain-containing protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AI632133, AL033378

  4. NM_001346508.2 → NP_001333437.1  SAM and SH3 domain-containing protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AI632133, AL033378

  5. NM_001346509.1 → NP_001333438.1  SAM and SH3 domain-containing protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AI632133, AL033378

  6. NM_015278.5 → NP_056093.3  SAM and SH3 domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_056093.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AJ507735, AK024403, AK025495
    Consensus CDS
    CCDS5212.1
    UniProtKB/Swiss-Prot
    O94885
    Related
    ENSP00000356437.3, ENST00000367467.8
    Conserved Domains (6) summary
    cd09492
    Location:1173 → 1242
    SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2
    cd09559
    Location:633 → 698
    SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1
    smart00454
    Location:1174 → 1241
    SAM; Sterile alpha motif
    cd11967
    Location:557 → 613
    SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1
    pfam12485
    Location:401 → 555
    SLY; Lymphocyte signaling adaptor protein
    cl11396
    Location:959 → 1052
    Patatin_and_cPLA2; Patatins and Phospholipases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    148193440..148552050
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010599.1 → XP_016866088.1  SAM and SH3 domain-containing protein 1 isoform X2

  2. XM_024446384.1 → XP_024302152.1  SAM and SH3 domain-containing protein 1 isoform X5

    Conserved Domains (5) summary
    cd09492
    Location:1136 → 1205
    SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2
    cd09559
    Location:596 → 661
    SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1
    cd11967
    Location:520 → 576
    SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1
    pfam12485
    Location:364 → 518
    SLY; Lymphocyte signaling adaptor protein
    cl26464
    Location:739 → 1049
    Atrophin-1; Atrophin-1 family

  3. XM_017010600.1 → XP_016866089.1  SAM and SH3 domain-containing protein 1 isoform X3

  4. XM_017010598.2 → XP_016866087.1  SAM and SH3 domain-containing protein 1 isoform X1

  5. XM_017010605.1 → XP_016866094.1  SAM and SH3 domain-containing protein 1 isoform X4

  6. XM_024446385.1 → XP_024302153.1  SAM and SH3 domain-containing protein 1 isoform X6

    Conserved Domains (5) summary
    cd09492
    Location:1094 → 1163
    SAM_SASH1_repeat2; SAM domain of SASH1 proteins, repeat 2
    cd09559
    Location:554 → 619
    SAM_SASH1_repeat1; SAM domain of SASH1 proteins, repeat 1
    cd11967
    Location:478 → 534
    SH3_SASH1; Src homology 3 domain of SAM And SH3 Domain Containing Protein 1
    pfam12485
    Location:325 → 476
    SLY; Lymphocyte signaling adaptor protein
    cl26464
    Location:697 → 1007
    Atrophin-1; Atrophin-1 family
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O94885.3 GenPept UniProtKB/Swiss-Prot:O94885

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