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

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; AllianceGenome:HGNC:1152
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: mouse all
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Genomic context

Location:: 6q21

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (105096822..105137157, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (106272906..106312920, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (105544697..105585032, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25.
Title: A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25.
Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.
Title: Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1).
Title: Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1).
An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs.
Title: An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs.
The Transition from Gastric Intestinal Metaplasia to Gastric Cancer Involves POPDC1 and POPDC3 Downregulation.
Title: The Transition from Gastric Intestinal Metaplasia to Gastric Cancer Involves POPDC1 and POPDC3 Downregulation.
BVES downregulation in non-syndromic tetralogy of fallot is associated with ventricular outflow tract stenosis.
Title: BVES downregulation in non-syndromic tetralogy of fallot is associated with ventricular outflow tract stenosis.
c.385C>T (p.R129W) is a functional SNP of the BVES gene that reduces the transcriptional activity of BVES in vitro and in vivo in TOF tissues. This subsequently affects the transcriptional activities of GATA4 and NKX2.5 related to TOF. These findings suggest that c.385C>T may be associated with the risk of TOF in the Han Chinese population.
Title: The Functional Polymorphism R129W in the BVES Gene Is Associated with Sporadic Tetralogy of Fallot in the Han Chinese Population.
BVES plays a protective role both in ulcerative and infectious colitis.
Title: BVES is required for maintenance of colonic epithelial integrity in experimental colitis by modifying intestinal permeability.
Functional suppression of POPDC1 promoted breast cancer cell migration and proliferation, cAMP interacts with POPDC1 and up-regulates its expression in breast cancer cells.
Title: Dysregulation of POPDC1 promotes breast cancer cell migration and proliferation.
recently a novel family of cAMP effector proteins emerged and was termed the Popeye domain containing (POPDC) family, which consists of three members POPDC1, POPDC2 and POPDC3. POPDC proteins are transmembrane proteins, which are abundantly present in striated and smooth muscle cells. POPDC proteins bind cAMP with high affinity comparable to PKA
Title: New kids on the block: The Popeye domain containing (POPDC) protein family acting as a novel class of cAMP effector proteins in striated muscle.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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

Associated conditions

Description	Tests
Autosomal recessive limb-girdle muscular dystrophy type 2X MedGen: C5568138 OMIM: 616812 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

AFMA125XC1 (e-PCR)
- UniSTS:4150

SHGC-67307 (e-PCR)
- UniSTS:89991

GDB:335751 (e-PCR)
- UniSTS:156601

D6S1121E (e-PCR)
- UniSTS:47061

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cAMP binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell migration involved in heart development	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hematopoietic progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in muscle organ development	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of locomotion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of receptor recycling	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell shape	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of endocytic recycling	IEA Inferred from Electronic Annotation more info
involved_in regulation of heart rate	IEA Inferred from Electronic Annotation more info
involved_in regulation of membrane potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to ischemia	ISS Inferred from Sequence or Structural Similarity more info
involved_in sinoatrial node cell development	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle tissue development	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in striated muscle cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in substrate adhesion-dependent cell spreading	ISS Inferred from Sequence or Structural Similarity more info
involved_in vesicle docking	IEA Inferred from Electronic Annotation more info
involved_in vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in caveola	ISS Inferred from Sequence or Structural Similarity more info
located_in cell junction	IDA Inferred from Direct Assay more info
located_in cell projection membrane	IEA Inferred from Electronic Annotation more info
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: blood vessel epicardial substance

Names: popeye domain-containing protein 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.

Genomic

NG_046732.1 RefSeqGene

Range

5018..45353

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001199563.2 → NP_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

A8K1R4, E1P5D8, Q5T550, Q5T551, Q8IWC6, Q8NE79, Q9HBV0, Q9UNG6

Related

ENSP00000313172.5, ENST00000314641.10

Conserved Domains (1) summary

pfam04831
Location:40 → 267

Popeye; Popeye protein conserved region
NM_007073.4 → NP_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

A8K1R4, E1P5D8, Q5T550, Q5T551, Q8IWC6, Q8NE79, Q9HBV0, Q9UNG6

Related

ENSP00000337259.5, ENST00000336775.9

Conserved Domains (1) summary

pfam04831
Location:40 → 267

Popeye; Popeye protein conserved region
NM_147147.4 → NP_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)

AL356775, BC034425, BC040502, Z95329

Consensus CDS

CCDS5051.1

UniProtKB/Swiss-Prot

A8K1R4, E1P5D8, Q5T550, Q5T551, Q8IWC6, Q8NE79, Q9HBV0, Q9UNG6

Related

ENSP00000397310.2, ENST00000446408.2

Conserved Domains (1) summary

pfam04831
Location:40 → 267

Popeye; Popeye protein conserved region