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Q8NE79 (POPD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Blood vessel epicardial substance

Short name=hBVES
Alternative name(s):
Popeye domain-containing protein 1
Short name=Popeye protein 1
Gene names
Name:BVES
Synonyms:POP1, POPDC1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length360 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. 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. Ref.1 Ref.7

Subunit structure

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.

Subcellular location

Lateral cell membrane. Cell junctiontight junction. Membrane; Multi-pass membrane protein Potential. Note: Colocalizes with VAMP3 at the cell-cell contact in cardiac and skeletal muscle By similarity. Its movement from the cytoplasm to membrane is an early event occurring concurrently with cell-cell contact. Colocalizes in epithelial cells with OCLN and TJP1 in an apical-lateral position within the z axis. Detected at cell-cell contact but never observed at the free surface of epithelial cells. Ref.7

Tissue specificity

Expressed in epithelial cells (at protein level). Expressed in fetal and adult heart and skeletal muscle. Ref.1 Ref.6 Ref.7

Sequence similarities

Belongs to the popeye family.

Ontologies

Keywords
   Biological processCell adhesion
   Cellular componentCell junction
Cell membrane
Membrane
Tight junction
   Coding sequence diversityPolymorphism
   DomainTransmembrane
Transmembrane helix
   Molecular functionDevelopmental protein
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processepithelial cell-cell adhesion

Inferred from direct assay Ref.7. Source: UniProtKB

muscle organ development

Non-traceable author statement Ref.6. Source: UniProtKB

positive regulation of locomotion

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of receptor recycling

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of Cdc42 GTPase activity

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of Rac GTPase activity

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of cell shape

Inferred from sequence or structural similarity. Source: UniProtKB

substrate adhesion-dependent cell spreading

Inferred from sequence or structural similarity. Source: UniProtKB

vesicle-mediated transport

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentintegral component of membrane

Inferred from direct assay Ref.7. Source: UniProtKB

lateral plasma membrane

Inferred from direct assay Ref.7. Source: UniProtKB

tight junction

Inferred from direct assay Ref.7. Source: UniProtKB

   Molecular_functionstructural molecule activity

Inferred from direct assay Ref.7. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 360360Blood vessel epicardial substance
PRO_0000046791

Regions

Topological domain1 – 4848Extracellular Potential
Transmembrane49 – 6921Helical; Potential
Topological domain701Cytoplasmic Potential
Transmembrane71 – 9121Helical; Potential
Topological domain921Extracellular Potential
Transmembrane93 – 11321Helical; Potential
Topological domain114 – 360247Cytoplasmic Potential

Amino acid modifications

Glycosylation21N-linked (GlcNAc...) Potential
Glycosylation301N-linked (GlcNAc...) Potential

Natural variations

Natural variant1271M → I.
Corresponds to variant rs9486039 [ dbSNP | Ensembl ].
VAR_053600
Natural variant1291R → W.
Corresponds to variant rs2275289 [ dbSNP | Ensembl ].
VAR_017155

Experimental info

Sequence conflict271V → P in AAD51780. Ref.6
Sequence conflict1101Y → I in AAG23405. Ref.1
Sequence conflict1231E → D in AAG23405. Ref.1
Sequence conflict1281Y → V in AAG23405. Ref.1
Sequence conflict1321F → V in AAG23405. Ref.1
Sequence conflict3421D → G in AAH40502. Ref.5
Sequence conflict3581Q → R in BAF82668. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q8NE79 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: 15B21A995FEEA351

FASTA36041,451
        10         20         30         40         50         60 
MNYTESSPLR ESTAIGFTPE LESIIPVPSN KTTCENWREI HHLVFHVANI CFAVGLVIPT 

        70         80         90        100        110        120 
TLHLHMIFLR GMLTLGCTLY IVWATLYRCA LDIMIWNSVF LGVNILHLSY LLYKKRPVKI 

       130        140        150        160        170        180 
EKELSGMYRR LFEPLRVPPD LFRRLTGQFC MIQTLKKGQT YAAEDKTSVD DRLSILLKGK 

       190        200        210        220        230        240 
MKVSYRGHFL HNIYPCAFID SPEFRSTQMH KGEKFQVTII ADDNCRFLCW SRERLTYFLE 

       250        260        270        280        290        300 
SEPFLYEIFR YLIGKDITNK LYSLNDPTLN DKKAKKLEHQ LSLCTQISML EMRNSIASSS 

       310        320        330        340        350        360 
DSDDGLHQFL RGTSSMSSLH VSSPHQRASA KMKPIEEGAE DDDDVFEPAS PNTLKVHQLP 

« Hide

References

« Hide 'large scale' references
[1]"Isolation and characterization of the novel popeye gene family expressed in skeletal muscle and heart."
Andree B., Hillemann T., Kessler-Icekson G., Schmitt-John T., Jockusch H., Arnold H.-H., Brand T.
Dev. Biol. 223:371-382(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], POSSIBLE FUNCTION, TISSUE SPECIFICITY.
Tissue: Lung.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Testis.
[6]"Cloning and expression of hbves, a novel and highly conserved mRNA expressed in the developing and adult heart and skeletal muscle in the human."
Reese D.E., Bader D.M.
Mamm. Genome 10:913-915(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 27-360, TISSUE SPECIFICITY.
[7]"Bves modulates epithelial integrity through an interaction at the tight junction."
Osler M.E., Chang M.S., Bader D.M.
J. Cell Sci. 118:4667-4678(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF204172 mRNA. Translation: AAG23405.1.
AK289979 mRNA. Translation: BAF82668.1.
AL356775, Z95329 Genomic DNA. Translation: CAI13619.1.
AL356775 Genomic DNA. Translation: CAI13620.1.
Z95329, AL356775 Genomic DNA. Translation: CAI21662.1.
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.
RefSeqNP_001186492.1. NM_001199563.1.
NP_009004.2. NM_007073.4.
NP_671488.1. NM_147147.3.
UniGeneHs.221660.

3D structure databases

ProteinModelPortalQ8NE79.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116321. 1 interaction.
STRING9606.ENSP00000313172.

PTM databases

PhosphoSiteQ8NE79.

Polymorphism databases

DMDM38257661.

Proteomic databases

PaxDbQ8NE79.
PRIDEQ8NE79.

Protocols and materials databases

DNASU11149.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000314641; ENSP00000313172; ENSG00000112276.
ENST00000336775; ENSP00000337259; ENSG00000112276.
ENST00000446408; ENSP00000397310; ENSG00000112276.
GeneID11149.
KEGGhsa:11149.
UCSCuc003pqw.3. human.

Organism-specific databases

CTD11149.
GeneCardsGC06M105594.
HGNCHGNC:1152. BVES.
HPAHPA014788.
HPA018176.
MIM604577. gene.
neXtProtNX_Q8NE79.
PharmGKBPA25469.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG71778.
HOVERGENHBG053638.
InParanoidQ8NE79.
OMAHLHMIFL.
OrthoDBEOG7J180F.
PhylomeDBQ8NE79.
TreeFamTF326644.

Gene expression databases

BgeeQ8NE79.
CleanExHS_BVES.
HS_POP1.
GenevestigatorQ8NE79.

Family and domain databases

Gene3D2.60.120.10. 1 hit.
InterProIPR018490. cNMP-bd-like.
IPR006916. Popeye_prot.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PANTHERPTHR12101. PTHR12101. 1 hit.
PfamPF04831. Popeye. 1 hit.
[Graphical view]
SUPFAMSSF51206. SSF51206. 1 hit.
ProtoNetSearch...

Other

ChiTaRSBVES. human.
GeneWikiBlood_vessel_epicardial_substance.
GenomeRNAi11149.
NextBio42390.
PROQ8NE79.
SOURCESearch...

Entry information

Entry namePOPD1_HUMAN
AccessionPrimary (citable) accession number: Q8NE79
Secondary accession number(s): A8K1R4 expand/collapse secondary AC list , E1P5D8, Q5T550, Q5T551, Q8IWC6, Q9HBV0, Q9UNG6
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: October 1, 2002
Last modified: February 19, 2014
This is version 95 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM