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    SBSN suprabasin [ Homo sapiens (human) ]

    Gene ID: 374897, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SBSNprovided by HGNC
    Official Full Name
    suprabasinprovided by HGNC
    Primary source
    HGNC:HGNC:24950
    See related
    Ensembl:ENSG00000189001 MIM:609969; AllianceGenome:HGNC:24950
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    UNQ698
    Summary
    Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward skin (RPKM 753.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See SBSN in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35523367..35528311, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38068100..38074890, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36014269..36019213, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35985748-35986694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35991019-35991520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35991521-35992020 Neighboring gene dermokine Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36016123-36016795 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36017917-36018418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36019864-36020364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14483 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase, spermatogenic Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36031035-36031534 Neighboring gene TMEM147 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36033929-36034430 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:36036145-36036837 Neighboring gene transmembrane protein 147

    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 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. Decreased expression of suprabasin induces aberrant differentiation and apoptosis of epidermal keratinocytes: Possible role for atopic dermatitis. Aoshima M, et al. J Dermatol Sci, 2019 Sep. PMID 31399284
    2. Suprabasin: Role in human cancers and other diseases. Tan H, et al. Mol Biol Rep, 2022 Feb. PMID 34775572
    3. Suprabasin-A Review. Pribyl M, et al. Genes (Basel), 2021 Jan 18. PMID 33477529, Free PMC Article
    4. Suprabasin is hypomethylated and associated with metastasis in salivary adenoid cystic carcinoma. Shao C, et al. PLoS One, 2012. PMID 23144906, Free PMC Article
    5. Aberrantly elevated suprabasin in the bone marrow as a candidate biomarker of advanced disease state in myelodysplastic syndromes. Pribyl M, et al. Mol Oncol, 2020 Oct. PMID 32696549, Free PMC Article

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Extracellular vesicles-transferred SBSN drives glioma aggressiveness by activating NF-kappaB via ANXA1-dependent ubiquitination of NEMO.
      Title: Extracellular vesicles-transferred SBSN drives glioma aggressiveness by activating NF-κB via ANXA1-dependent ubiquitination of NEMO.
    2. Suprabasin: Role in human cancers and other diseases.
      Title: Suprabasin: Role in human cancers and other diseases.
    3. Aberrantly elevated suprabasin in the bone marrow as a candidate biomarker of advanced disease state in myelodysplastic syndromes.
      Title: Aberrantly elevated suprabasin in the bone marrow as a candidate biomarker of advanced disease state in myelodysplastic syndromes.
    4. Suprabasin-A Review.
      Title: Suprabasin-A Review.
    5. SBSN expression was observed in human clinical specimens of colon and ovarian carcinomas, as well as in circulating tumour cells and metastases of the 4T1 mouse model. The association of SBSN expression with progressive stages of cancer development indicates its role in cancer evolution and therapy resistance.
      Title: Interferon-regulated suprabasin is essential for stress-induced stem-like cell conversion and therapy resistance of human malignancies.
    6. Epidermal SBSN expression was decreased in atopic dermatitis (AD) lesional skin compared to healthy skin. The SBSN serum levels were significantly lower in AD patients than in normal subjects. Study results suggested that SBSN regulates normal epidermal barrierand has an anti-apoptotic activity, and its deficiency is involved in the pathogenesis of AD.
      Title: Decreased expression of suprabasin induces aberrant differentiation and apoptosis of epidermal keratinocytes: Possible role for atopic dermatitis.
    7. SCARA5 and SBSN shown to have modest effects on cell proliferation or collagen gel contraction and maybe associated with peripheral vein graft patency.
      Title: Scavenger receptor class A member 5 (SCARA5) and suprabasin (SBSN) are hub genes of coexpression network modules associated with peripheral vein graft patency.
    8. we demonstrated that upregulation of suprabasin activated the Wnt/b-catenin signaling pathway and led to nuclear localization of b-catenin and upregulation of Cyclin D1 and c-Myc. Together, our results suggest that suprabasin plays an important oncogenic role in promoting proliferation and tumorigenesis of esophageal squamous cell carcinoma .
      Title: Overexpression of Suprabasin is Associated with Proliferation and Tumorigenicity of Esophageal Squamous Cell Carcinoma.
    9. Findings suggest that SBSN is involved in the angiogenic potential of tumor endothelial cells (TEC) and may be a novel TEC marker.
      Title: Suprabasin as a novel tumor endothelial cell marker.
    10. These results support suprabasin as novel oncogene candidate in salivary gland adenoid cystic carcinoma.
      Title: Suprabasin is hypomethylated and associated with metastasis in salivary adenoid cystic carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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

    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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    Homology

    Clone Names

    • MGC75533

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    suprabasin
    Names
    HLAR698

    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.

    mRNA and Protein(s)

    1. NM_001166034.2 → NP_001159506.1  suprabasin isoform 1 precursor

      See identical proteins and their annotated locations for NP_001159506.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AY358701, BF838582, BX648076, CU448844
      Consensus CDS
      CCDS54253.1
      UniProtKB/Swiss-Prot
      A8K5J0, E9PBV3, Q6UWP8
      Related
      ENSP00000430242.1, ENST00000452271.7
      Conserved Domains (1) summary
      pfam03157
      Location:146 → 522
      Glutenin_hmw; High molecular weight glutenin subunit

    2. NM_001166035.2 → NP_001159507.1  suprabasin isoform 3 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame segment of the coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
      Source sequence(s)
      AA055367, AY358701, BC063640
      UniProtKB/TrEMBL
      K7ESC4
      Related
      ENSP00000468646.2, ENST00000588674.5

    3. NM_198538.4 → NP_940940.1  suprabasin isoform 2 precursor

      See identical proteins and their annotated locations for NP_940940.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment of the coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AY358701, BC063640
      Consensus CDS
      CCDS12464.1
      UniProtKB/Swiss-Prot
      Q6UWP8
      Related
      ENSP00000428771.1, ENST00000518157.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      35523367..35528311 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526930.3 → XP_011525232.1  suprabasin isoform X2

      Conserved Domains (1) summary
      pfam03157
      Location:109 → 504
      Glutenin_hmw; High molecular weight glutenin subunit

    2. XM_011526931.3 → XP_011525233.1  suprabasin isoform X3

      Conserved Domains (1) summary
      pfam09606
      Location:96 → 538
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal

    3. XM_011526929.3 → XP_011525231.1  suprabasin isoform X1

      Conserved Domains (1) summary
      pfam03157
      Location:104 → 515
      Glutenin_hmw; High molecular weight glutenin subunit

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      38068100..38074890 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320925.1 → XP_054176900.1  suprabasin isoform X5

    2. XM_054320923.1 → XP_054176898.1  suprabasin isoform X2

    3. XM_054320924.1 → XP_054176899.1  suprabasin isoform X3

    4. XM_054320922.1 → XP_054176897.1  suprabasin isoform X1

    5. XM_054320921.1 → XP_054176896.1  suprabasin isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UWP8.2 GenPept UniProtKB/Swiss-Prot:Q6UWP8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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