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    ESM1 endothelial cell specific molecule 1 [ Homo sapiens (human) ]

    Gene ID: 11082, updated on 14-Nov-2024

    Summary

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    Official Symbol
    ESM1provided by HGNC
    Official Full Name
    endothelial cell specific molecule 1provided by HGNC
    Primary source
    HGNC:HGNC:3466
    See related
    Ensembl:ENSG00000164283 MIM:601521; AllianceGenome:HGNC:3466
    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
    endocan
    Summary
    This gene encodes a secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
    Expression
    Biased expression in thyroid (RPKM 12.6), kidney (RPKM 8.9) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ESM1 in Genome Data Viewer
    Location:
    5q11.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (54977867..54985593, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (55805520..55813241, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (54273695..54281421, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene thiosulfate sulfurtransferase like domain containing 1 pseudogene Neighboring gene uncharacterized LOC124900976 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:54195500-54195657 Neighboring gene Sharpr-MPRA regulatory region 7071 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:54293529-54293722 Neighboring gene uncharacterized LOC102467081 Neighboring gene granzyme K

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lactate drives the ESM1-SCD1 axis to inhibit the antitumor CD8[+] T-cell response by activating the Wnt/beta-catenin pathway in ovarian cancer cells and inducing cisplatin resistance.
      Title: Lactate drives the ESM1-SCD1 axis to inhibit the antitumor CD8(+) T-cell response by activating the Wnt/β-catenin pathway in ovarian cancer cells and inducing cisplatin resistance.
    2. Endothelial cell specific molecule 1 promotes epithelial-mesenchymal transition of cervical cancer via the E-box binding homeobox 1.
      Title: Endothelial cell specific molecule 1 promotes epithelial-mesenchymal transition of cervical cancer via the E-box binding homeobox 1.
    3. Esm-1 mediates transcriptional polarization associated with diabetic kidney disease.
      Title: Esm-1 mediates transcriptional polarization associated with diabetic kidney disease.
    4. ESM1 enhances fatty acid synthesis and vascular mimicry in ovarian cancer by utilizing the PKM2-dependent warburg effect within the hypoxic tumor microenvironment.
      Title: ESM1 enhances fatty acid synthesis and vascular mimicry in ovarian cancer by utilizing the PKM2-dependent warburg effect within the hypoxic tumor microenvironment.
    5. Functional analysis of ESM1 by shRNA-mediated knockdown of its expression in papillary thyroid cancer cells.
      Title: Functional analysis of ESM1 by shRNA-mediated knockdown of its expression in papillary thyroid cancer cells.
    6. Investigation of Serum Endocan Levels in SARS-CoV-2 Patients.
      Title: Investigation of Serum Endocan Levels in SARS-CoV-2 Patients.
    7. Intermittent hypoxia increased the expression of ESM1 and ICAM-1 in vascular endothelial cells via the downregulation of microRNA-181a1.
      Title: Intermittent hypoxia increased the expression of ESM1 and ICAM-1 in vascular endothelial cells via the downregulation of microRNA-181a1.
    8. Systematic Review of Endocan as a Potential Biomarker of COVID-19.
      Title: Systematic Review of Endocan as a Potential Biomarker of COVID-19.
    9. Correlation of Serum Endocan Level With Apoptosis Indicators and Severity of Atherosclerotic Lesions of Coronary Arteries in Patients With Coronary Heart Disease.
      Title: Correlation of Serum Endocan Level With Apoptosis Indicators and Severity of Atherosclerotic Lesions of Coronary Arteries in Patients With Coronary Heart Disease.
    10. Expression of endocan and vascular endothelial growth factor and their correlation with histopathological prognostic parameters in pheochromocytoma.
      Title: Expression of endocan and vascular endothelial growth factor and their correlation with histopathological prognostic parameters in pheochromocytoma.
    Submit: New GeneRIF Correction See all GeneRIFs (164)

    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of endothelial cell-specific molecule 1 (ESM1) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent HDA PubMed 
    enables hepatocyte growth factor receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hepatocyte growth factor receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables integrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables integrin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in angiogenesis IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of hepatocyte growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of hepatocyte growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in collagen-containing extracellular matrix HDA PubMed 
    located_in extracellular matrix HDA PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    endothelial cell-specific molecule 1
    Names
    ESM-1

    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_001135604.2 → NP_001129076.1  endothelial cell-specific molecule 1 isoform b precursor

      See identical proteins and their annotated locations for NP_001129076.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC010436, AC034238, AK300634
      Consensus CDS
      CCDS47206.1
      UniProtKB/Swiss-Prot
      Q9NQ30
      Related
      ENSP00000370810.4, ENST00000381403.4
      Conserved Domains (1) summary
      smart00121
      Location:26 → 100
      IB; Insulin growth factor-binding protein homologues

    2. NM_007036.5 → NP_008967.1  endothelial cell-specific molecule 1 isoform a precursor

      See identical proteins and their annotated locations for NP_008967.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC010436, AC034238, AK311817
      Consensus CDS
      CCDS3963.1
      UniProtKB/Swiss-Prot
      B2R4G3, Q15330, Q3V4E3, Q96ES3, Q9NQ30
      Related
      ENSP00000370812.4, ENST00000381405.5
      Conserved Domains (1) summary
      smart00121
      Location:26 → 100
      IB; Insulin growth factor-binding protein homologues

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      54977867..54985593 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      55805520..55813241 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQ30.2 GenPept UniProtKB/Swiss-Prot:Q9NQ30

    Gene LinkOut

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

    Chemical Information
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