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Q8NE79

- POPD1_HUMAN

UniProt

Q8NE79 - POPD1_HUMAN

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Protein

Blood vessel epicardial substance

Gene
BVES, POP1, POPDC1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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. 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.2 Publications

GO - Molecular functioni

  1. structural molecule activity Source: UniProtKB

GO - Biological processi

  1. epithelial cell-cell adhesion Source: UniProtKB
  2. muscle organ development Source: UniProtKB
  3. positive regulation of locomotion Source: UniProtKB
  4. positive regulation of receptor recycling Source: UniProtKB
  5. regulation of Cdc42 GTPase activity Source: UniProtKB
  6. regulation of cell shape Source: UniProtKB
  7. regulation of Rac GTPase activity Source: UniProtKB
  8. substrate adhesion-dependent cell spreading Source: UniProtKB
  9. vesicle-mediated transport Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cell adhesion

Names & Taxonomyi

Protein namesi
Recommended name:
Blood vessel epicardial substance
Short name:
hBVES
Alternative name(s):
Popeye domain-containing protein 1
Short name:
Popeye protein 1
Gene namesi
Name:BVES
Synonyms:POP1, POPDC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:1152. BVES.

Subcellular locationi

Lateral cell membrane. Cell junctiontight junction. Membrane; Multi-pass membrane protein Reviewed prediction
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.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4848Extracellular Reviewed predictionAdd
BLAST
Transmembranei49 – 6921Helical; Reviewed predictionAdd
BLAST
Topological domaini70 – 701Cytoplasmic Reviewed prediction
Transmembranei71 – 9121Helical; Reviewed predictionAdd
BLAST
Topological domaini92 – 921Extracellular Reviewed prediction
Transmembranei93 – 11321Helical; Reviewed predictionAdd
BLAST
Topological domaini114 – 360247Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB
  2. lateral plasma membrane Source: UniProtKB
  3. plasma membrane Source: UniProtKB
  4. tight junction Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Tight junction

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25469.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 360360Blood vessel epicardial substancePRO_0000046791Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi2 – 21N-linked (GlcNAc...) Reviewed prediction
Glycosylationi30 – 301N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8NE79.
PRIDEiQ8NE79.

PTM databases

PhosphoSiteiQ8NE79.

Expressioni

Tissue specificityi

Expressed in epithelial cells (at protein level). Expressed in fetal and adult heart and skeletal muscle.3 Publications

Gene expression databases

BgeeiQ8NE79.
CleanExiHS_BVES.
HS_POP1.
GenevestigatoriQ8NE79.

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.

Protein-protein interaction databases

BioGridi116321. 1 interaction.
STRINGi9606.ENSP00000313172.

Structurei

3D structure databases

ProteinModelPortaliQ8NE79.

Family & Domainsi

Sequence similaritiesi

Belongs to the popeye family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG71778.
HOVERGENiHBG053638.
InParanoidiQ8NE79.
OMAiHLHMIFL.
OrthoDBiEOG7J180F.
PhylomeDBiQ8NE79.
TreeFamiTF326644.

Family and domain databases

Gene3Di2.60.120.10. 1 hit.
InterProiIPR018490. cNMP-bd-like.
IPR006916. Popeye_prot.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PANTHERiPTHR12101. PTHR12101. 1 hit.
PfamiPF04831. Popeye. 1 hit.
[Graphical view]
SUPFAMiSSF51206. SSF51206. 1 hit.

Sequencei

Sequence statusi: Complete.

Q8NE79-1 [UniParc]FASTAAdd to Basket

« Hide

MNYTESSPLR ESTAIGFTPE LESIIPVPSN KTTCENWREI HHLVFHVANI    50
CFAVGLVIPT TLHLHMIFLR GMLTLGCTLY IVWATLYRCA LDIMIWNSVF 100
LGVNILHLSY LLYKKRPVKI EKELSGMYRR LFEPLRVPPD LFRRLTGQFC 150
MIQTLKKGQT YAAEDKTSVD DRLSILLKGK MKVSYRGHFL HNIYPCAFID 200
SPEFRSTQMH KGEKFQVTII ADDNCRFLCW SRERLTYFLE SEPFLYEIFR 250
YLIGKDITNK LYSLNDPTLN DKKAKKLEHQ LSLCTQISML EMRNSIASSS 300
DSDDGLHQFL RGTSSMSSLH VSSPHQRASA KMKPIEEGAE DDDDVFEPAS 350
PNTLKVHQLP 360
Length:360
Mass (Da):41,451
Last modified:October 1, 2002 - v1
Checksum:i15B21A995FEEA351
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti127 – 1271M → I.
Corresponds to variant rs9486039 [ dbSNP | Ensembl ].
VAR_053600
Natural varianti129 – 1291R → W.
Corresponds to variant rs2275289 [ dbSNP | Ensembl ].
VAR_017155

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti27 – 271V → P in AAD51780. 1 Publication
Sequence conflicti110 – 1101Y → I in AAG23405. 1 Publication
Sequence conflicti123 – 1231E → D in AAG23405. 1 Publication
Sequence conflicti128 – 1281Y → V in AAG23405. 1 Publication
Sequence conflicti132 – 1321F → V in AAG23405. 1 Publication
Sequence conflicti342 – 3421D → G in AAH40502. 1 Publication
Sequence conflicti358 – 3581Q → R in BAF82668. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS5051.1.
RefSeqiNP_001186492.1. NM_001199563.1.
NP_009004.2. NM_007073.4.
NP_671488.1. NM_147147.3.
UniGeneiHs.221660.

Genome annotation databases

EnsembliENST00000314641; ENSP00000313172; ENSG00000112276.
ENST00000336775; ENSP00000337259; ENSG00000112276.
ENST00000446408; ENSP00000397310; ENSG00000112276.
GeneIDi11149.
KEGGihsa:11149.
UCSCiuc003pqw.3. human.

Polymorphism databases

DMDMi38257661.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS5051.1.
RefSeqi NP_001186492.1. NM_001199563.1.
NP_009004.2. NM_007073.4.
NP_671488.1. NM_147147.3.
UniGenei Hs.221660.

3D structure databases

ProteinModelPortali Q8NE79.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116321. 1 interaction.
STRINGi 9606.ENSP00000313172.

PTM databases

PhosphoSitei Q8NE79.

Polymorphism databases

DMDMi 38257661.

Proteomic databases

PaxDbi Q8NE79.
PRIDEi Q8NE79.

Protocols and materials databases

DNASUi 11149.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000314641 ; ENSP00000313172 ; ENSG00000112276 .
ENST00000336775 ; ENSP00000337259 ; ENSG00000112276 .
ENST00000446408 ; ENSP00000397310 ; ENSG00000112276 .
GeneIDi 11149.
KEGGi hsa:11149.
UCSCi uc003pqw.3. human.

Organism-specific databases

CTDi 11149.
GeneCardsi GC06M105594.
HGNCi HGNC:1152. BVES.
HPAi HPA014788.
HPA018176.
MIMi 604577. gene.
neXtProti NX_Q8NE79.
PharmGKBi PA25469.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG71778.
HOVERGENi HBG053638.
InParanoidi Q8NE79.
OMAi HLHMIFL.
OrthoDBi EOG7J180F.
PhylomeDBi Q8NE79.
TreeFami TF326644.

Miscellaneous databases

ChiTaRSi BVES. human.
GeneWikii Blood_vessel_epicardial_substance.
GenomeRNAii 11149.
NextBioi 42390.
PROi Q8NE79.
SOURCEi Search...

Gene expression databases

Bgeei Q8NE79.
CleanExi HS_BVES.
HS_POP1.
Genevestigatori Q8NE79.

Family and domain databases

Gene3Di 2.60.120.10. 1 hit.
InterProi IPR018490. cNMP-bd-like.
IPR006916. Popeye_prot.
IPR014710. RmlC-like_jellyroll.
[Graphical view ]
PANTHERi PTHR12101. PTHR12101. 1 hit.
Pfami PF04831. Popeye. 1 hit.
[Graphical view ]
SUPFAMi SSF51206. SSF51206. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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.

Entry informationi

Entry nameiPOPD1_HUMAN
AccessioniPrimary (citable) accession number: Q8NE79
Secondary accession number(s): A8K1R4
, E1P5D8, Q5T550, Q5T551, Q8IWC6, Q9HBV0, Q9UNG6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 97 of the entry and version 1 of the sequence. [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

External Data

Dasty 3

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