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

Gene ID: 23328, updated on 28-Sep-2022

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; AllianceGenome:HGNC:19182
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
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Genomic context

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See SASH1 in Genome Data Viewer
Location:
6q24.3-q25.1
Exon count:
29
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (148193468..148552044)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (149468519..149748326)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (148593464..148873180)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene sterile alpha motif domain containing 5 Neighboring gene uncharacterized LOC105378044 Neighboring gene uncharacterized LOC124901423 Neighboring gene RNA, U6 small nuclear 1222, pseudogene Neighboring gene Sharpr-MPRA regulatory region 1441 Neighboring gene Sharpr-MPRA regulatory region 8239 Neighboring gene Sharpr-MPRA regulatory region 6687 Neighboring gene cytochrome P450 family 51 subfamily A member 1 pseudogene 3 Neighboring gene meiotic recombination hotspot D Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:148920936-148921524 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. Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria. Liu JW, et al. J Clin Lab Anal, 2021 Jun. PMID 34028087, Free PMC Article
  2. Expression of SASH1 in Preeclampsia and Its Effects on Human Trophoblast. Liu S, et al. Biomed Res Int, 2020. PMID 33134379, Free PMC Article
  3. SASH1 is a prognostic indicator and potential therapeutic target in non-small cell lung cancer. Burgess JT, et al. Sci Rep, 2020 Oct 29. PMID 33122723, Free PMC Article
  4. Five novel mutations in SASH1 contribute to lentiginous phenotypes in Japanese families. Araki Y, et al. Pigment Cell Melanoma Res, 2021 Mar. PMID 32981204
  5. Involvement of SASH1 in the Maintenance of Stable Cell-Cell Adhesion. Ilnitskaya AS, et al. Biochemistry (Mosc), 2020 Jun. PMID 32586229

See all (69) 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. Five novel mutations in SASH1 contribute to lentiginous phenotypes in Japanese families.
    Title: Five novel mutations in SASH1 contribute to lentiginous phenotypes in Japanese families.
  2. Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria.
    Title: Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria.
  3. Paired like homeodomain 1 and SAM and SH3 domain-containing 1 in the progression and prognosis of head and neck squamous cell carcinoma.
    Title: Paired like homeodomain 1 and SAM and SH3 domain-containing 1 in the progression and prognosis of head and neck squamous cell carcinoma.
  4. Expression of SASH1 in Preeclampsia and Its Effects on Human Trophoblast.
    Title: Expression of SASH1 in Preeclampsia and Its Effects on Human Trophoblast.
  5. SASH1 is a prognostic indicator and potential therapeutic target in non-small cell lung cancer.
    Title: SASH1 is a prognostic indicator and potential therapeutic target in non-small cell lung cancer.
  6. Involvement of SASH1 in the Maintenance of Stable Cell-Cell Adhesion.
    Title: Involvement of SASH1 in the Maintenance of Stable Cell-Cell Adhesion.
  7. SASH1 suppresses triple-negative breast cancer cell invasion through YAP-ARHGAP42-actin axis.
    Title: SASH1 suppresses triple-negative breast cancer cell invasion through YAP-ARHGAP42-actin axis.
  8. Findings indicate that miR-130b was highly expressed, while SAM and SH3 domain containing 1 protein (SASH1) was the opposite in both the oesophageal squamous cell carcinoma (ESCC) tissues and cells.
    Title: MiR-130b promotes the progression of oesophageal squamous cell carcinoma by targeting SASH1.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (40)

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
Compare labs
Dyschromatosis universalis hereditaria 1
MedGen: C2675711 OMIM: 127500 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide association study for diabetic nephropathy genes in African Americans.
EBI GWAS Catalog
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
EBI GWAS Catalog
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
EBI GWAS Catalog
Common genetic variation and the control of HIV-1 in humans.
EBI GWAS Catalog
Genome-wide association study of smoking behaviours among Bangladeshi adults.
EBI GWAS Catalog
Genome-wide scan of copy number variation in late-onset Alzheimer's disease.
EBI GWAS 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
enables G-protein alpha-subunit binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables mitogen-activated protein kinase kinase kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables mitogen-activated protein kinase kinase kinase binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables molecular adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein C-terminus binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of JUN kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
acts_upstream_of_or_within positive regulation of JUN kinase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of NIK/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
acts_upstream_of_or_within positive regulation of NIK/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of endothelial cell migration IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within positive regulation of lipopolysaccharide-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of p38MAPK cascade IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within protein polyubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of epithelial cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of protein K63-linked ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within regulation of protein autoubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
part_of 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_051927.2 RefSeqGene

    Range
    154372..363578
    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_001346509.2 → 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, Q9H7R7
    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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    148193468..148552044
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010599.2 → XP_016866088.1  SAM and SH3 domain-containing protein 1 isoform X2

  2. XM_024446384.2 → XP_024302152.1  SAM and SH3 domain-containing protein 1 isoform X7

    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_017010600.2 → XP_016866089.1  SAM and SH3 domain-containing protein 1 isoform X3

  4. XM_047418497.1 → XP_047274453.1  SAM and SH3 domain-containing protein 1 isoform X4

  5. XM_047418500.1 → XP_047274456.1  SAM and SH3 domain-containing protein 1 isoform X9

  6. XM_017010598.3 → XP_016866087.1  SAM and SH3 domain-containing protein 1 isoform X1

  7. XM_047418496.1 → XP_047274452.1  SAM and SH3 domain-containing protein 1 isoform X4

  8. XM_017010605.2 → XP_016866094.1  SAM and SH3 domain-containing protein 1 isoform X5

  9. XM_047418499.1 → XP_047274455.1  SAM and SH3 domain-containing protein 1 isoform X6

  10. XM_047418498.1 → XP_047274454.1  SAM and SH3 domain-containing protein 1 isoform X6

  11. XM_024446385.2 → XP_024302153.1  SAM and SH3 domain-containing protein 1 isoform X8

    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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    149468519..149748326
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O94885.3 GenPept UniProtKB/Swiss-Prot:O94885

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