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BVES blood vessel epicardial substance [ Homo sapiens (human) ]

Gene ID: 11149, updated on 11-Sep-2019

Summary

Official Symbol
BVESprovided by HGNC
Official Full Name
blood vessel epicardial substanceprovided by HGNC
Primary source
HGNC:HGNC:1152
See related
Ensembl:ENSG00000112276 MIM:604577
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
POP1; HBVES; CARICK; LGMD2X; POPDC1; LGMDR25
Summary
This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
Expression
Broad expression in heart (RPKM 3.6), testis (RPKM 1.9) and 16 other tissues See more
Orthologs

Genomic context

See BVES in Genome Data Viewer
Location:
6q21
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (105096822..105137157, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (105544697..105585049, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene LIN28B antisense RNA 1 Neighboring gene lin-28 homolog B Neighboring gene RNA, U6 small nuclear 1106, pseudogene Neighboring gene BVES antisense RNA 1 Neighboring gene popeye domain containing 3 Neighboring gene uncharacterized LOC105377920 Neighboring gene prolyl endopeptidase

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
Muscular dystrophy, limb-girdle, type 2X
MedGen: C4225199 OMIM: 616812 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog

Pathways from BioSystems

  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC42413

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cAMP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell migration involved in heart development IEA
Inferred from Electronic Annotation
more info
 
epithelial cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
heart development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
muscle organ development NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of locomotion ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of receptor recycling ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell shape ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of endocytic recycling IEA
Inferred from Electronic Annotation
more info
 
regulation of heart rate IEA
Inferred from Electronic Annotation
more info
 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to ischemia ISS
Inferred from Sequence or Structural Similarity
more info
 
sinoatrial node cell development IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
striated muscle cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
substrate adhesion-dependent cell spreading ISS
Inferred from Sequence or Structural Similarity
more info
 
vesicle docking IEA
Inferred from Electronic Annotation
more info
 
vesicle-mediated transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
caveola ISS
Inferred from Sequence or Structural Similarity
more info
 
cell junction IDA
Inferred from Direct Assay
more info
 
cell projection membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
lateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
blood vessel epicardial substance
Names
popeye domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_046732.1 RefSeqGene

    Range
    5018..45353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199563.2NP_001186492.1  blood vessel epicardial substance

    See identical proteins and their annotated locations for NP_001186492.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (C) has an alternate 5' UTR exon and encodes the same protein, as compared to variant A.
    Source sequence(s)
    AK289979, AL356775, BC040502, Z95329
    Consensus CDS
    CCDS5051.1
    UniProtKB/Swiss-Prot
    Q8NE79
    Related
    ENSP00000313172.5, ENST00000314641.10
    Conserved Domains (1) summary
    pfam04831
    Location:40267
    Popeye; Popeye protein conserved region
  2. NM_007073.4NP_009004.2  blood vessel epicardial substance

    See identical proteins and their annotated locations for NP_009004.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) and variants B and C encode the same protein.
    Source sequence(s)
    AF204172, BC034425, BC040502, Z95329
    Consensus CDS
    CCDS5051.1
    UniProtKB/Swiss-Prot
    Q8NE79
    Related
    ENSP00000337259.5, ENST00000336775.9
    Conserved Domains (1) summary
    pfam04831
    Location:40267
    Popeye; Popeye protein conserved region
  3. NM_147147.3NP_671488.1  blood vessel epicardial substance

    See identical proteins and their annotated locations for NP_671488.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) has an alternate 5' UTR exon and encodes the same protein, as compared to variant A.
    Source sequence(s)
    BC034425, BC040502, Z95329
    Consensus CDS
    CCDS5051.1
    UniProtKB/Swiss-Prot
    Q8NE79
    Related
    ENSP00000397310.2, ENST00000446408.2
    Conserved Domains (1) summary
    pfam04831
    Location:40267
    Popeye; Popeye protein conserved region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    105096822..105137157 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535398.2XP_011533700.1  blood vessel epicardial substance isoform X1

    See identical proteins and their annotated locations for XP_011533700.1

    UniProtKB/Swiss-Prot
    Q8NE79
    Conserved Domains (1) summary
    pfam04831
    Location:40267
    Popeye; Popeye protein conserved region
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