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

    Gene ID: 23328, updated on 3-Apr-2024

    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
    DUH; 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
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    Genomic context

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    Location:
    6q24.3-q25.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (148193468..148552044)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (149389474..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 H3K4me1 hESC enhancer GRCh37_chr6:148225800-148226300 Neighboring gene uncharacterized LOC124901423 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:148467567-148468766 Neighboring gene NANOG hESC enhancer GRCh37_chr6:148495187-148495773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:148573377-148573878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:148573879-148574378 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:148585683-148586236 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:148612147-148612648 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:148628353-148629039 Neighboring gene RNA, U6 small nuclear 1222, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:148652682-148653673 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:148655656-148656645 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:148662621-148663200 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:148668049-148668557 Neighboring gene Sharpr-MPRA regulatory region 8239 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:148669576-148670085 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:148688559-148689434 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:148687682-148688558 Neighboring gene MPRA-validated peak6206 silencer Neighboring gene Sharpr-MPRA regulatory region 6687 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:148766834-148767334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:148773672-148774208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:148775249-148775748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:148834032-148834830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:148834831-148835628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:148837963-148838463 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:148841275-148841814 Neighboring gene cytochrome P450 family 51 subfamily A member 1 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:148854137-148854638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:148854639-148855138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17651 Neighboring gene meiotic recombination hotspot D Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:148920936-148921524 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:148965896-148966430 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:148966431-148966966 Neighboring gene SNRPE pseudogene 6 Neighboring gene ribosomal protein SA pseudogene 40

    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 (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HMGB1/SET/HAT1 complex-mediated SASH1 repression drives glycolysis and metastasis in lung adenocarcinoma.
      Title: HMGB1/SET/HAT1 complex-mediated SASH1 repression drives glycolysis and metastasis in lung adenocarcinoma.
    2. SASH1 contributes to glial cell migration in the early development of the central nervous system.
      Title: SASH1 contributes to glial cell migration in the early development of the central nervous system.
    3. Two novel mutations in SASH1 identified in a familial and a sporadic generalized lentiginosis phenotype in Koreans.
      Title: Two novel mutations in SASH1 identified in a familial and a sporadic generalized lentiginosis phenotype in Koreans.
    4. SASH1: A Novel Eph Receptor Partner and Insights into SAM-SAM Interactions.
      Title: SASH1: A Novel Eph Receptor Partner and Insights into SAM-SAM Interactions.
    5. Human Endogenous Retrovirus-H-Derived miR-4454 Inhibits the Expression of DNAJB4 and SASH1 in Non-Muscle-Invasive Bladder Cancer.
      Title: Human Endogenous Retrovirus-H-Derived miR-4454 Inhibits the Expression of DNAJB4 and SASH1 in Non-Muscle-Invasive Bladder Cancer.
    6. Genetic and phenotypic heterogeneity of multiple lentigines and precise diagnosis in four Chinese families with multiple lentigines.
      Title: Genetic and phenotypic heterogeneity of multiple lentigines and precise diagnosis in four Chinese families with multiple lentigines.
    7. 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.
    8. Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria.
      Title: Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria.
    9. 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.
    10. Expression of SASH1 in Preeclampsia and Its Effects on Human Trophoblast.
      Title: Expression of SASH1 in Preeclampsia and Its Effects on Human Trophoblast.
    Submit: New GeneRIF Correction See all GeneRIFs (46)

    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: C5193062 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
    		  
    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 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
    		  
    acts_upstream_of_or_within positive regulation of JUN kinase activity 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 
    involved_in positive regulation of non-canonical NF-kappaB signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within positive regulation of non-canonical NF-kappaB signal transduction 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 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    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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    NEW Try the new Transcript table

    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
      UniProtKB/TrEMBL
      Q6P4R9

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

      Status: REVIEWED

      Source sequence(s)
      AI632133, AL033378, AL513164
      UniProtKB/TrEMBL
      Q6P4R9

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

      Status: REVIEWED

      Source sequence(s)
      AI632133, AL033378
      UniProtKB/TrEMBL
      Q6P4R9

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

      Status: REVIEWED

      Source sequence(s)
      AI632133, AL033378
      UniProtKB/TrEMBL
      Q6P4R9

    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, Q5TGN5, Q8TAI0, Q9H7R7
      UniProtKB/TrEMBL
      Q6P4R9
      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: GCF_000001405.40-RS_2023_10

    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

      UniProtKB/TrEMBL
      Q6P4R9

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

      UniProtKB/TrEMBL
      Q6P4R9
      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

      UniProtKB/TrEMBL
      Q6P4R9

    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

      UniProtKB/TrEMBL
      Q6P4R9

    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

      UniProtKB/TrEMBL
      Q6P4R9

    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

      UniProtKB/TrEMBL
      Q6P4R9
      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
      149389474..149748326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354868.1 → XP_054210843.1  SAM and SH3 domain-containing protein 1 isoform X2

    2. XM_054354875.1 → XP_054210850.1  SAM and SH3 domain-containing protein 1 isoform X7

    3. XM_054354869.1 → XP_054210844.1  SAM and SH3 domain-containing protein 1 isoform X3

    4. XM_054354871.1 → XP_054210846.1  SAM and SH3 domain-containing protein 1 isoform X4

    5. XM_054354877.1 → XP_054210852.1  SAM and SH3 domain-containing protein 1 isoform X9

    6. XM_054354867.1 → XP_054210842.1  SAM and SH3 domain-containing protein 1 isoform X1

    7. XM_054354870.1 → XP_054210845.1  SAM and SH3 domain-containing protein 1 isoform X4

    8. XM_054354872.1 → XP_054210847.1  SAM and SH3 domain-containing protein 1 isoform X5

    9. XM_054354874.1 → XP_054210849.1  SAM and SH3 domain-containing protein 1 isoform X6

    10. XM_054354873.1 → XP_054210848.1  SAM and SH3 domain-containing protein 1 isoform X6

    11. XM_054354876.1 → XP_054210851.1  SAM and SH3 domain-containing protein 1 isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O94885.3 GenPept UniProtKB/Swiss-Prot:O94885

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