Popdc1 popeye domain cAMP effector 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Popdc1provided by MGI
Official Full Name: popeye domain cAMP effector 1provided by MGI
Primary source: MGI:MGI:1346013
See related: Ensembl:ENSMUSG00000071317 AllianceGenome:MGI:1346013
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Bves; Pop1; mBVES
Summary: Enables cAMP binding activity. Involved in several processes, including positive regulation of receptor recycling; response to ischemia; and substrate adhesion-dependent cell spreading. Acts upstream of or within several processes, including hematopoietic progenitor cell differentiation; regulation of heart rate; and sinoatrial node cell development. Located in several cellular components, including bicellular tight junction; lateral plasma membrane; and sarcolemma. Is expressed in several structures, including gut; heart; leg muscle; reproductive system; and respiratory system. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2X. Orthologous to human BVES (blood vessel epicardial substance). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in bladder adult (RPKM 21.8), heart adult (RPKM 14.7) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 B2; 10 23.47 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (45211783..45248580)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (45335735..45372484)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mice Lacking the cAMP Effector Protein POPDC1 Show Enhanced Hippocampal Synaptic Plasticity.
Title: Mice Lacking the cAMP Effector Protein POPDC1 Show Enhanced Hippocampal Synaptic Plasticity.
BVES is a key regulator of intestinal stem cell programs and mucosal homeostasis.
Title: BVES Regulates Intestinal Stem Cell Programs and Intestinal Crypt Viability after Radiation.
BVES plays a key role in maintaining the integrity of the colonic mucosa and protecting from inflammatory carcinogenesis. Additionally, these results provide the first in vivo and genetic evidence supporting the hypothesis that BVES regulates Wnt activity.
Title: BVES regulates c-Myc stability via PP2A and suppresses colitis-induced tumourigenesis.
Bves and NDRG4 regulate directional epicardial cell migration through autocrine extracellular matrix deposition.
Title: Bves and NDRG4 regulate directional epicardial cell migration through autocrine extracellular matrix deposition.
The results indicate that Popdc1 is a caveolae-associated protein important for the preservation of caveolae structural and functional integrity and for heart protection.
Title: Popeye domain containing 1 (Popdc1/Bves) is a caveolae-associated protein involved in ischemia tolerance.
Popdc1 and Popdc2 proteins interact with the potassium channel TREK-1, which leads to increased cell surface expression and enhanced current density
Title: Popeye domain containing proteins are essential for stress-mediated modulation of cardiac pacemaking in mice.
Bves directly interacts with GEFT and is a novel regulator of the Rac1 and Cdc42 signaling cascades.
Title: Bves directly interacts with GEFT, and controls cell shape and movement through regulation of Rac1/Cdc42 activity.
Expressed in a wide range of epithelial and muscle cells during mouse embryogenesis, indicating a broad function for this protein in development.
Title: Characterization of Bves expression during mouse development using newly generated immunoreagents.
cell surface Bves/Pop1A is composed of an extracellular amino terminus, three transmembrane domains, and a cytoplasmic carboxyl terminus, which regulates cellular distribution of Bves/Pop1A during coronary vessel development
Title: Membrane topology of Bves/Pop1A, a cell adhesion molecule that displays dynamic changes in cellular distribution during development.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (3) 1 citation

General gene information

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Markers

Bves (e-PCR), detects polymorphism
- UniSTS:209571

NoName (e-PCR)
- UniSTS:495525

NoName (e-PCR)
- UniSTS:485036

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cAMP binding	IBA Inferred from Biological aspect of Ancestor more info
enables cAMP binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	ISO Inferred from Sequence Orthology more info
enables structural molecule activity	ISS Inferred from Sequence or Structural Similarity more info

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

Component	Evidence Code	Pubs
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in bicellular tight junction	ISO Inferred from Sequence Orthology more info
located_in caveola	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in cell projection membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology 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
located_in sarcolemma	ISO Inferred from Sequence Orthology more info
located_in sarcolemma	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: blood vessel epicardial substance

Names: popeye 1; popeye domain-containing protein 1; popeye 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.

mRNA and Protein(s)

NM_001428891.1 → NP_001415820.1 blood vessel epicardial substance isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AC155715

UniProtKB/Swiss-Prot

A2RS91, Q8C8L3, Q9ES83
NM_001428893.1 → NP_001415822.1 blood vessel epicardial substance isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (3), as well as variant 4, encodes isoform b.

Source sequence(s)

AC155715
NM_001428894.1 → NP_001415823.1 blood vessel epicardial substance isoform b

Status: VALIDATED

Source sequence(s)

AC155715
NM_024285.3 → NP_077247.1 blood vessel epicardial substance isoform a

Status: VALIDATED

Source sequence(s)

AC155715

Consensus CDS

CCDS23828.1

UniProtKB/Swiss-Prot

A2RS91, Q8C8L3, Q9ES83

Related

ENSMUSP00000093382.4, ENSMUST00000095715.5

Conserved Domains (1) summary

pfam04831
Location:41 → 267

Popeye; Popeye protein conserved region

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

45211783..45248580

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036155783.1 → XP_036011676.1 blood vessel epicardial substance isoform X2

Conserved Domains (1) summary

pfam04831
Location:1 → 173

Popeye; Popeye protein conserved region
XM_006512736.5 → XP_006512799.1 blood vessel epicardial substance isoform X1

Conserved Domains (1) summary

pfam04831
Location:41 → 267

Popeye; Popeye protein conserved region
XM_006512737.3 → XP_006512800.1 blood vessel epicardial substance isoform X1

UniProtKB/Swiss-Prot

A2RS91, Q8C8L3, Q9ES83

Conserved Domains (1) summary

pfam04831
Location:41 → 267

Popeye; Popeye protein conserved region