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Q8NE79

- POPD1_HUMAN

UniProt

Q8NE79 - POPD1_HUMAN

Protein

Blood vessel epicardial substance

Gene

BVES

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 98 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    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.1 Publication

    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

    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 1 Publication. Cell junctiontight junction 1 Publication. Membrane Curated; Multi-pass membrane protein Curated
    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.By similarity

    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

    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...)Sequence Analysis
    Glycosylationi30 – 301N-linked (GlcNAc...)Sequence Analysis

    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.By similarity

    Protein-protein interaction databases

    BioGridi116321. 1 interaction.
    STRINGi9606.ENSP00000313172.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NE79.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 4848ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini70 – 701CytoplasmicSequence Analysis
    Topological domaini92 – 921ExtracellularSequence Analysis
    Topological domaini114 – 360247CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei49 – 6921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei71 – 9121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei93 – 11321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the popeye family.Curated

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti27 – 271V → P in AAD51780. (PubMed:10441744)Curated
    Sequence conflicti110 – 1101Y → I in AAG23405. (PubMed:10882522)Curated
    Sequence conflicti123 – 1231E → D in AAG23405. (PubMed:10882522)Curated
    Sequence conflicti128 – 1281Y → V in AAG23405. (PubMed:10882522)Curated
    Sequence conflicti132 – 1321F → V in AAG23405. (PubMed:10882522)Curated
    Sequence conflicti342 – 3421D → G in AAH40502. (PubMed:15489334)Curated
    Sequence conflicti358 – 3581Q → R in BAF82668. (PubMed:14702039)Curated

    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 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

    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: October 1, 2014
    This is version 98 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