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Protein

Blood vessel epicardial substance

Gene

BVES

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Cell adhesion molecule involved in the establishment and/or maintenance of cell integrity. Involved in the formation and regulation of the tight junction (TJ) paracellular permeability barrier in epithelial cells (PubMed:16188940). Plays a role in VAMP3-mediated vesicular transport and recycling of different receptor molecules through its interaction with VAMP3. Plays a role in the regulation of cell shape and movement by modulating the Rho-family GTPase activity through its interaction with ARHGEF25/GEFT. Induces primordial adhesive contact and aggregation of epithelial cells in a Ca2+-independent manner. Also involved in striated muscle regeneration and repair and in the regulation of cell spreading (By similarity). Important for the maintenance of cardiac function. Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density (PubMed:26642364). Is also a caveolae-associated protein important for the preservation of caveolae structural and functional integrity as well as for heart protection against ischemia injury.By similarity2 Publications

GO - Molecular functioni

  • cAMP binding Source: UniProtKB-KW
  • structural molecule activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processCell adhesion
LigandcAMP, cAMP-binding, Nucleotide-binding

Enzyme and pathway databases

SIGNORiQ8NE79

Names & Taxonomyi

Protein namesi
Recommended name:
Blood vessel epicardial substanceImported
Short name:
hBVES
Alternative name(s):
Popeye domain-containing protein 1
Short name:
Popeye protein 1
Gene namesi
Name:BVESImported
Synonyms:POP1Imported, POPDC1Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000112276.13
HGNCiHGNC:1152 BVES
MIMi604577 gene
neXtProtiNX_Q8NE79

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 48ExtracellularSequence analysisAdd BLAST48
Transmembranei49 – 69HelicalSequence analysisAdd BLAST21
Topological domaini70CytoplasmicSequence analysis1
Transmembranei71 – 91HelicalSequence analysisAdd BLAST21
Topological domaini92ExtracellularSequence analysis1
Transmembranei93 – 113HelicalSequence analysisAdd BLAST21
Topological domaini114 – 360CytoplasmicSequence analysisAdd BLAST247

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Tight junction

Pathology & Biotechi

Involvement in diseasei

Limb-girdle muscular dystrophy 2X (LGMD2X)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD2X patients also develop cardiac arrhythmias resulting in syncopal episodes as young adults or later in life.
See also OMIM:616812
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075625201S → F in LGMD2X; reduces membrane localization of BVES and POPDC2; decreases by 50% affinity for cAMP; disrupts enhancement of KCKN2 surface expression; increases KCKN2 outward currents; no effect on total protein levels. 1 PublicationCorresponds to variant dbSNP:rs869025337EnsemblClinVar.1

Keywords - Diseasei

Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNETi11149
MalaCardsiBVES
MIMi616812 phenotype
OpenTargetsiENSG00000112276
PharmGKBiPA25469

Polymorphism and mutation databases

BioMutaiBVES
DMDMi38257661

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000467911 – 360Blood vessel epicardial substanceAdd BLAST360

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi2N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi30N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei295PhosphoserineBy similarity1
Modified residuei318PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ8NE79
PeptideAtlasiQ8NE79
PRIDEiQ8NE79
ProteomicsDBi73133

PTM databases

iPTMnetiQ8NE79
PhosphoSitePlusiQ8NE79

Expressioni

Tissue specificityi

Expressed in epithelial cells (at protein level). Expressed in fetal and adult heart and skeletal muscle.4 Publications

Gene expression databases

BgeeiENSG00000112276
CleanExiHS_BVES
HS_POP1
GenevisibleiQ8NE79 HS

Organism-specific databases

HPAiHPA014788
HPA018176

Interactioni

Subunit structurei

Homodimer. Homodimerization requires the C-terminus cytoplasmic region. Interacts (via the C-terminus cytoplasmic tail) with TJP1. Interacts (via the C-terminus cytoplasmic tail) with ARHGEF25/GEFT (via the DH domain). Interacts (via the C-terminus cytoplasmic tail) with VAMP3 (By similarity). Interacts with KCNK2; the interaction enhances KCNK2 surface expression and is inhibited by cAMP (By similarity) (PubMed:26642364). Interacts with CAV3 (By similarity).By similarity1 Publication

Protein-protein interaction databases

BioGridi116321, 4 interactors
IntActiQ8NE79, 2 interactors
STRINGi9606.ENSP00000313172

Structurei

3D structure databases

ProteinModelPortaliQ8NE79
SMRiQ8NE79
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni93 – 115Required for interaction with CAV3By similarityAdd BLAST23
Regioni136 – 186Required for interaction with KCNK21 PublicationAdd BLAST51

Sequence similaritiesi

Belongs to the popeye family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IGHK Eukaryota
ENOG410ZTIT LUCA
GeneTreeiENSGT00390000002563
HOVERGENiHBG053638
InParanoidiQ8NE79
KOiK21108
OMAiTIGCTLY
OrthoDBiEOG091G0B7Q
PhylomeDBiQ8NE79
TreeFamiTF326644

Family and domain databases

Gene3Di2.60.120.10, 1 hit
InterProiView protein in InterPro
IPR018490 cNMP-bd-like
IPR006916 Popeye_prot
IPR014710 RmlC-like_jellyroll
PANTHERiPTHR12101 PTHR12101, 1 hit
PfamiView protein in Pfam
PF04831 Popeye, 1 hit
SUPFAMiSSF51206 SSF51206, 1 hit

Sequencei

Sequence statusi: Complete.

Q8NE79-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNYTESSPLR ESTAIGFTPE LESIIPVPSN KTTCENWREI HHLVFHVANI
60 70 80 90 100
CFAVGLVIPT TLHLHMIFLR GMLTLGCTLY IVWATLYRCA LDIMIWNSVF
110 120 130 140 150
LGVNILHLSY LLYKKRPVKI EKELSGMYRR LFEPLRVPPD LFRRLTGQFC
160 170 180 190 200
MIQTLKKGQT YAAEDKTSVD DRLSILLKGK MKVSYRGHFL HNIYPCAFID
210 220 230 240 250
SPEFRSTQMH KGEKFQVTII ADDNCRFLCW SRERLTYFLE SEPFLYEIFR
260 270 280 290 300
YLIGKDITNK LYSLNDPTLN DKKAKKLEHQ LSLCTQISML EMRNSIASSS
310 320 330 340 350
DSDDGLHQFL RGTSSMSSLH VSSPHQRASA KMKPIEEGAE DDDDVFEPAS
360
PNTLKVHQLP
Length:360
Mass (Da):41,451
Last modified:October 1, 2002 - v1
Checksum:i15B21A995FEEA351
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti27V → P in AAD51780 (PubMed:10441744).Curated1
Sequence conflicti110Y → I in AAG23405 (PubMed:10882522).Curated1
Sequence conflicti123E → D in AAG23405 (PubMed:10882522).Curated1
Sequence conflicti128Y → V in AAG23405 (PubMed:10882522).Curated1
Sequence conflicti132F → V in AAG23405 (PubMed:10882522).Curated1
Sequence conflicti342D → G in AAH40502 (PubMed:15489334).Curated1
Sequence conflicti358Q → R in BAF82668 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053600127M → I. Corresponds to variant dbSNP:rs9486039Ensembl.1
Natural variantiVAR_017155129R → W. Corresponds to variant dbSNP:rs2275289Ensembl.1
Natural variantiVAR_075625201S → F in LGMD2X; reduces membrane localization of BVES and POPDC2; decreases by 50% affinity for cAMP; disrupts enhancement of KCKN2 surface expression; increases KCKN2 outward currents; no effect on total protein levels. 1 PublicationCorresponds to variant dbSNP:rs869025337EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF204172 mRNA Translation: AAG23405.1
AK289979 mRNA Translation: BAF82668.1
AL356775 Genomic DNA No translation available.
Z95329 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48430.1
CH471051 Genomic DNA Translation: EAW48431.1
CH471051 Genomic DNA Translation: EAW48432.1
BC034425 mRNA Translation: AAH34425.1
BC040502 mRNA Translation: AAH40502.2
AF124512 mRNA Translation: AAD51780.1
CCDSiCCDS5051.1
RefSeqiNP_001186492.1, NM_001199563.1
NP_009004.2, NM_007073.4
NP_671488.1, NM_147147.3
XP_011533700.1, XM_011535398.2
UniGeneiHs.221660

Genome annotation databases

EnsembliENST00000314641; ENSP00000313172; ENSG00000112276
ENST00000336775; ENSP00000337259; ENSG00000112276
ENST00000446408; ENSP00000397310; ENSG00000112276
GeneIDi11149
KEGGihsa:11149
UCSCiuc003pqw.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPOPD1_HUMAN
AccessioniPrimary (citable) accession number: Q8NE79
Secondary accession number(s): A8K1R4
, E1P5D8, Q5T550, Q5T551, Q8IWC6, Q9HBV0, Q9UNG6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: October 1, 2002
Last modified: July 18, 2018
This is version 127 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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