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ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator [ Homo sapiens (human) ]

Gene ID: 641700, updated on 24-Nov-2020

Summary

Official Symbol
ECSCRprovided by HGNC
Official Full Name
endothelial cell surface expressed chemotaxis and apoptosis regulatorprovided by HGNC
Primary source
HGNC:HGNC:35454
See related
Ensembl:ENSG00000249751 MIM:615736
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
ARIA; ECSM2
Summary
The protein encoded by this gene is primarily found in endothelial cells and blood vessels, where it is involved in cell shape changes and EGF-induced cell migration. It can enhance the activation of vascular endothelial growth factor receptor-2/kinase insert domain receptor and also promote the proteolysis of internalized kinase insert domain receptor. This gene may play a role in angiogenesis-related diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Annotation information
Note: This gene aligns across a gap in the GRCh38 reference genome assembly, and therefore, the 5' end of this gene was annotated on NT_029289.12 and the 3' end was annotated on NT_034772.7 in NCBI's Homo sapiens Annotation Release 106. [17 Jun 2014]
Annotation category: suggests misassembly
Expression
Broad expression in placenta (RPKM 24.9), lung (RPKM 23.6) and 22 other tissues See more
Orthologs
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Genomic context

See ECSCR in Genome Data Viewer
Location:
5q31.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (139448560..139462743, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (138837129..138842320, complement) , (138784245..138784863, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member C18 Neighboring gene RNA, U5B small nuclear 4, pseudogene Neighboring gene small integral membrane protein 33 Neighboring gene stimulator of interferon response cGAMP interactor 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
chemotaxis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of endothelial cell apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of endothelial cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of proteasomal protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of proteasomal protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
endothelial cell-specific chemotaxis regulator
Names
apoptosis regulator through modulating IAP expression
endothelial cell-specific molecule 2

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_001077693.4NP_001071161.1  endothelial cell-specific chemotaxis regulator isoform 1 precursor

    See identical proteins and their annotated locations for NP_001071161.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AI699314, EU025066
    Consensus CDS
    CCDS75317.1
    UniProtKB/Swiss-Prot
    Q19T08
    Related
    ENSP00000479243.1, ENST00000618155.3
    Conserved Domains (1) summary
    pfam15820
    Location:101203
    ECSCR; Endothelial cell-specific chemotaxis regulator
  2. NM_001293739.2NP_001280668.1  endothelial cell-specific chemotaxis regulator isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' terminal exon, compared to variant 1, resulting in an isoform (2) that has a distinct C-terminus and is 1 aa shorter than isoform 1.
    Source sequence(s)
    AC142391, AC188049, AI699314, BI834795, EU025066
    UniProtKB/Swiss-Prot
    Q19T08
    Conserved Domains (1) summary
    pfam15820
    Location:101203
    ECSCR; Endothelial cell-specific chemotaxis regulator

RNA

  1. NR_121659.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an additional internal exon and uses an alternate splice site in the 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    ABBA01026462, AC142391, AI699314, BF526332, EU025066

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    139448560..139462743 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021159996.1 Reference GRCh38.p13 PATCHES

    Range
    39089..52538 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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