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

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

Summary

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

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

General protein information

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_001135604.2NP_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:26100
    IB; Insulin growth factor-binding protein homologues
  2. NM_007036.5NP_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:26100
    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)