Q8NE79 (POPD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	360 AA.
Sequence status	Complete.
Protein existence	Evidence 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 junction › tight 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 process	Cell adhesion
Cellular component	Cell junction Cell membrane Membrane Tight junction
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Molecular function	Developmental protein
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	epithelial 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_component	integral to 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_function	structural molecule activity Inferred from direct assay Ref.7. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 360	360	Blood vessel epicardial substance		PRO_0000046791
Regions
	Topological domain	1 – 48	48	Extracellular Potential
	Transmembrane	49 – 69	21	Helical; Potential
	Topological domain	70	1	Cytoplasmic Potential
	Transmembrane	71 – 91	21	Helical; Potential
	Topological domain	92	1	Extracellular Potential
	Transmembrane	93 – 113	21	Helical; Potential
	Topological domain	114 – 360	247	Cytoplasmic Potential
Amino acid modifications
	Glycosylation	2	1	N-linked (GlcNAc...) Potential
	Glycosylation	30	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	127	1	M → I. Corresponds to variant rs9486039 [ dbSNP | Ensembl ].		VAR_053600
	Natural variant	129	1	R → W. Corresponds to variant rs2275289 [ dbSNP | Ensembl ].		VAR_017155
Experimental info
	Sequence conflict	27	1	V → P in AAD51780. Ref.6
	Sequence conflict	110	1	Y → I in AAG23405. Ref.1
	Sequence conflict	123	1	E → D in AAG23405. Ref.1
	Sequence conflict	128	1	Y → V in AAG23405. Ref.1
	Sequence conflict	132	1	F → V in AAG23405. Ref.1
	Sequence conflict	342	1	D → G in AAH40502. Ref.5
	Sequence conflict	358	1	Q → R in BAF82668. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q8NE79 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 15B21A995FEEA351	FASTA	360	41,451
	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

References

	« Hide 'large scale' referencesShow '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. , 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]	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. , 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.
IPI	IPI00168616.
RefSeq	NP_001186492.1. NM_001199563.1. NP_009004.2. NM_007073.4. NP_671488.1. NM_147147.3.
UniGene	Hs.221660.
3D structure databases
ProteinModelPortal	Q8NE79.
SMR	Q8NE79. Positions 131-252.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000313172.
PTM databases
PhosphoSite	Q8NE79.
Polymorphism databases
DMDM	38257661.
Proteomic databases
PaxDb	Q8NE79.
PRIDE	Q8NE79.
Protocols and materials databases
DNASU	11149.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000314641; ENSP00000313172; ENSG00000112276. ENST00000336775; ENSP00000337259; ENSG00000112276. ENST00000446408; ENSP00000397310; ENSG00000112276.
GeneID	11149.
KEGG	hsa:11149.
UCSC	uc003pqw.3. human.
Organism-specific databases
CTD	11149.
GeneCards	GC06M105594.
HGNC	HGNC:1152. BVES.
HPA	HPA014788. HPA018176.
MIM	604577. gene.
neXtProt	NX_Q8NE79.
PharmGKB	PA25469.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG71778.
HOVERGEN	HBG053638.
InParanoid	Q8NE79.
OMA	LGCTLYI.
OrthoDB	EOG4CZBFM.
PhylomeDB	Q8NE79.
Gene expression databases
Bgee	Q8NE79.
CleanEx	HS_BVES. HS_POP1.
Genevestigator	Q8NE79.
GermOnline	ENSG00000112276. Homo sapiens.
Family and domain databases
Gene3D	2.60.120.10. 1 hit.
InterPro	IPR018490. cNMP-bd-like. IPR006916. Popeye_prot. IPR014710. RmlC-like_jellyroll. [Graphical view]
PANTHER	PTHR12101. PTHR12101. 1 hit.
Pfam	PF04831. Popeye. 1 hit. [Graphical view]
SUPFAM	SSF51206. cNMP_binding. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	BVES. human.
GenomeRNAi	11149.
NextBio	42390.
SOURCE	Search...

Entry information

Entry name

POPD1_HUMAN

Accession

Primary (citable) accession number: Q8NE79
Secondary accession number(s): A8K1R4 , E1P5D8, Q5T550, Q5T551, Q8IWC6, Q9HBV0, Q9UNG6

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2003
Last sequence update:	October 1, 2002
Last modified:	May 1, 2013
This is version 90 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.