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

Gene ID: 11149, updated on 26-May-2016
Official Symbol
BVESprovided by HGNC
Official Full Name
blood vessel epicardial substanceprovided by HGNC
Primary source
HGNC:HGNC:1152
See related
Ensembl:ENSG00000112276 HPRD:06842; MIM:604577; Vega:OTTHUMG00000015291
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; LGMD2X; POPDC1
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]
Orthologs
Location:
6q21
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (105096822..105137174, 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 poly(A) binding protein cytoplasmic 4 pseudogene Neighboring gene LIN28B antisense RNA 1 Neighboring gene lin-28 homolog B Neighboring gene BVES antisense RNA 1 Neighboring gene popeye domain containing 3 Neighboring gene uncharacterized LOC105377920 Neighboring gene prolyl endopeptidase

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC42413

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cAMP binding IEA
Inferred from Electronic Annotation
more info
 
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 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 IEA
Inferred from Electronic Annotation
more info
 
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 IMP
Inferred from Mutant Phenotype
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 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 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
blood vessel epicardial substance
Names
popeye domain-containing protein 1

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
    5001..45353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199563.1NP_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, OTTHUMP00000242208, ENST00000314641, OTTHUMT00000406075
    Conserved Domains (1) summary
    pfam04831
    Location:123276
    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, OTTHUMP00000016910, ENST00000336775, OTTHUMT00000041647
    Conserved Domains (1) summary
    pfam04831
    Location:123276
    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, OTTHUMP00000016911, ENST00000446408, OTTHUMT00000041648
    Conserved Domains (1) summary
    pfam04831
    Location:123276
    Popeye; Popeye protein conserved region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    105096822..105137174 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535398.1XP_011533700.1  

    See identical proteins and their annotated locations for XP_011533700.1

    UniProtKB/Swiss-Prot
    Q8NE79
    Conserved Domains (1) summary
    pfam04831
    Location:123276
    Popeye; Popeye protein conserved region

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    105806724..105846753 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)