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

Gene ID: 11082, updated on 23-Mar-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
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Genomic context

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Location:
5q11.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (54977867..54985593, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (55805520..55813241, complement)
105.20220307 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
  • 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. Endocan Promotes Pro-Tumorigenic Signaling in Lung Cancer Cells: Modulation of Cell Proliferation, Migration and lncRNAs H19 and HULC Expression. Aliquò F, et al. Int J Mol Sci, 2023 May 3. PMID 37175885, Free PMC Article
  2. Endothelial cell-specific molecule 1 drives cervical cancer progression. Lu J, et al. Cell Death Dis, 2022 Dec 15. PMID 36522312, Free PMC Article
  3. Increasing circulating ESM-1 and adhesion molecules are associated with earlystage atherosclerosis in OSA patients:A cross-sectional study. Sun H, et al. Sleep Med, 2022 Oct. PMID 35830780
  4. Assessment of serum endocan levels in patients with beta-thalassemia minor. Khanmammadov N, et al. Rev Assoc Med Bras (1992), 2022 Feb. PMID 35239873
  5. Endocan alters nitric oxide production in endothelial cells by targeting AKT/eNOS and NFkB/iNOS signaling. Kumar SK, et al. Nitric Oxide, 2021 Dec 1. PMID 34592471

See all (160) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Investigation of Serum Endocan Levels in SARS-CoV-2 Patients.
    Title: Investigation of Serum Endocan Levels in SARS-CoV-2 Patients.
  2. 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.
  3. Systematic Review of Endocan as a Potential Biomarker of COVID-19.
    Title: Systematic Review of Endocan as a Potential Biomarker of COVID-19.
  4. 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.
  5. 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.
  6. Endocan as a marker of endothelial dysfunction in hypertension: a systematic review and meta-analysis.
    Title: Endocan as a marker of endothelial dysfunction in hypertension: a systematic review and meta-analysis.
  7. Endocan Knockdown Down-Regulates the Expression of Angiogenesis-Associated Genes in Il-1ss Activated Chondrocytes.
    Title: Endocan Knockdown Down-Regulates the Expression of Angiogenesis-Associated Genes in Il-1ß Activated Chondrocytes.
  8. Endocan is Related to Increased Cardiovascular Risk in Type 2 Diabetes Mellitus Patients.
    Title: Endocan is Related to Increased Cardiovascular Risk in Type 2 Diabetes Mellitus Patients.
  9. Serum endocan levels in children with rheumatic aortic insufficiency: can it differentiate bicuspid aortic valve disease from rheumatic heart disease?
    Title: Serum endocan levels in children with rheumatic aortic insufficiency: can it differentiate bicuspid aortic valve disease from rheumatic heart disease?
  10. ESM-1 Mediates Cell Progression in Clear Cell Renal Cell Carcinoma by Affecting Wnt/beta-Catenin Signalling Pathway.
    Title: ESM-1 Mediates Cell Progression in Clear Cell Renal Cell Carcinoma by Affecting Wnt/β-Catenin Signalling Pathway.
Submit: New GeneRIF Correction See all GeneRIFs (159)

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

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 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
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_2023_10

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

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