Q9HBM0 (VEZA_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 93.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Vezatin | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 779 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Plays a pivotal role in the establishment of adherens junctions and their maintenance in adult life. In case of Listeria infection, promotes bacterial internalization by participating in myosin VIIa recruitment to the entry site. Ref.7 |
| Subunit structure | Interacts with myosin VIIa and the cadherin-catenins complex. Ref.2 |
| Subcellular location | Cell membrane; Multi-pass membrane protein. Cell junction › adherens junction. Nucleus. Cytoplasmic vesicle › secretory vesicle › acrosome By similarity. |
| Sequence similarities | Belongs to the vezatin family. |
| Sequence caution | The sequence AAG38514.1 differs from that shown. Reason: Contaminating sequence. Sequence of unknown origin in the N-terminal part. The sequence AAH64939.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS. The sequence BAA91634.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS. The sequence CAB70772.2 differs from that shown. Reason: Intron retention. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell junction Cell membrane Cytoplasmic vesicle Membrane Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Transmembrane Transmembrane helix |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | cell-cell adhesion Inferred from electronic annotation. Source: Compara chordate embryonic developmentInferred from electronic annotation. Source: Compara |
| Cellular_component | acrosomal vesicle Inferred from electronic annotation. Source: UniProtKB-SubCell adherens junctionInferred from electronic annotation. Source: UniProtKB-SubCell integral to membraneInferred from electronic annotation. Source: UniProtKB-KW nucleusInferred from electronic annotation. Source: UniProtKB-SubCell plasma membraneInferred from electronic annotation. Source: UniProtKB-SubCell stereocilia ankle link complexInferred from electronic annotation. Source: Compara |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] Note: Experimental confirmation may be lacking for some isoforms. | ||||||
| Isoform 1 (identifier: Q9HBM0-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9HBM0-2) The sequence of this isoform differs from the canonical sequence as follows: 1-48: Missing. 49-55: PPTRVLP → MLKEWAI 611-617: AVLKSLS → GVKSAWN 618-779: Missing. | ||||||
| Note: Due to intron retention. | ||||||
| Isoform 5 (identifier: Q9HBM0-5) The sequence of this isoform differs from the canonical sequence as follows: 57-65: QGILLKVAE → GSLSAICLH 66-779: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform 6 (identifier: Q9HBM0-6) The sequence of this isoform differs from the canonical sequence as follows: 57-79: QGILLKVAETIKSWIFFSQCNKK → YLGYSNHSMNINCTYWHAQGMGY 80-779: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 779 | 779 | Vezatin | PRO_0000065783 | |||||
Regions | |||||||||
| Transmembrane | 139 – 159 | 21 | Helical; Potential | ||||||
| Transmembrane | 162 – 182 | 21 | Helical; Potential | ||||||
| Coiled coil | 430 – 462 | 33 | Potential | ||||||
| Compositional bias | 763 – 766 | 4 | Poly-Glu | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 48 | 48 | Missing in isoform 2. | VSP_004010 | |||||
| Alternative sequence | 49 – 55 | 7 | PPTRVLP → MLKEWAI in isoform 2. | VSP_004011 | |||||
| Alternative sequence | 57 – 79 | 23 | QGILL…QCNKK → YLGYSNHSMNINCTYWHAQG MGY in isoform 6. | VSP_040853 | |||||
| Alternative sequence | 57 – 65 | 9 | QGILLKVAE → GSLSAICLH in isoform 5. | VSP_040854 | |||||
| Alternative sequence | 66 – 779 | 714 | Missing in isoform 5. | VSP_040855 | |||||
| Alternative sequence | 80 – 779 | 700 | Missing in isoform 6. | VSP_040856 | |||||
| Alternative sequence | 611 – 617 | 7 | AVLKSLS → GVKSAWN in isoform 2. | VSP_004014 | |||||
| Alternative sequence | 618 – 779 | 162 | Missing in isoform 2. | VSP_004017 | |||||
| Natural variant | 162 | 1 | T → A. Corresponds to variant rs17855933 [ dbSNP | Ensembl ]. | VAR_046303 | |||||
| Natural variant | 496 | 1 | V → I. Ref.2 Corresponds to variant rs10507051 [ dbSNP | Ensembl ]. | VAR_046304 | |||||
| Natural variant | 612 | 1 | V → M. Ref.6 Corresponds to variant rs17344738 [ dbSNP | Ensembl ]. | VAR_046305 | |||||
| Natural variant | 668 | 1 | S → A. Corresponds to variant rs17855934 [ dbSNP | Ensembl ]. | VAR_046306 | |||||
| Natural variant | 762 | 1 | G → D. Ref.1 Ref.6 Corresponds to variant rs14121 [ dbSNP | Ensembl ]. | VAR_014945 | |||||
Experimental info | |||||||||
| Sequence conflict | 46 | 1 | Q → R in BAA91634. Ref.3 | ||||||
| Sequence conflict | 169 | 1 | W → R in AAG38485. Ref.2 | ||||||
| Sequence conflict | 334 | 1 | L → W in AAG09719. Ref.1 | ||||||
| Sequence conflict | 396 | 1 | Y → I in AAG09719. Ref.1 | ||||||
| Sequence conflict | 432 | 1 | S → T in AAG09719. Ref.1 | ||||||
| Sequence conflict | 617 | 1 | S → F in AAG09719. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | Xiao H., Song H., Gao G., Ren S., Chen Z., Han Z. Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ASP-762. Tissue: Adrenal gland. |
| [2] | "Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex." Kuessel-Andermann P., El-Amraoui A., Safieddine S., Nouaille S., Perfettini I., Lecuit M., Cossart P., Wolfrum U., Petit C. EMBO J. 19:6020-6029(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), SUBUNIT, VARIANT ILE-496. Tissue: Retina. |
| [3] | "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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5). |
| [4] | "The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. Gibbs R.A.Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract] 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] (ISOFORM 6). Tissue: Skin. |
| [6] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-610 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 391-779 (ISOFORM 1), VARIANTS MET-612 AND ASP-762. Tissue: Amygdala and Testis. |
| [7] | "Unconventional myosin VIIa and vezatin, two proteins crucial for Listeria entry into epithelial cells." Sousa S., Cabanes D., El-Amraoui A., Petit C., Lecuit M., Cossart P. J. Cell Sci. 117:2121-2130(2004) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF225417 mRNA. Translation: AAG09719.1. AF216644 mRNA. Translation: AAG38485.1. AF277625 mRNA. Translation: AAG38514.1. Sequence problems. AK001338 mRNA. Translation: BAA91634.1. Sequence problems. AC084879 Genomic DNA. No translation available. AC127165 Genomic DNA. No translation available. BC064939 mRNA. Translation: AAH64939.1. Sequence problems. AL133113 mRNA. Translation: CAB61416.1. AL137497 mRNA. Translation: CAB70772.2. Sequence problems. |
| IPI | IPI00029954. IPI00218140. IPI00218143. IPI00480160. |
| PIR | T46251. |
| RefSeq | NP_060069.3. NM_017599.3. |
| UniGene | Hs.24135. |
3D structure databases | |
| ProteinModelPortal | Q9HBM0. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000410083. |
Polymorphism databases | |
| DMDM | 224471870. |
Proteomic databases | |
| PaxDb | Q9HBM0. |
| PRIDE | Q9HBM0. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000436874; ENSP00000410083; ENSG00000028203. ENST00000546557; ENSP00000447080; ENSG00000028203. ENST00000547484; ENSP00000447010; ENSG00000028203. ENST00000547997; ENSP00000449346; ENSG00000028203. ENST00000548455; ENSP00000447044; ENSG00000028203. ENST00000549624; ENSP00000448555; ENSG00000028203. ENST00000550803; ENSP00000449056; ENSG00000028203. ENST00000552660; ENSP00000447786; ENSG00000028203. |
| GeneID | 55591. |
| KEGG | hsa:55591. |
| UCSC | uc001tdz.2. human. |
Organism-specific databases | |
| CTD | 55591. |
| GeneCards | GC12P095611. |
| H-InvDB | HIX0021238. |
| HGNC | HGNC:18258. VEZT. |
| HPA | HPA004811. HPA017066. |
| neXtProt | NX_Q9HBM0. |
| PharmGKB | PA143485667. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG67649. |
| HOVERGEN | HBG108656. |
| InParanoid | Q9HBM0. |
| OMA | QPSIKQR. |
| OrthoDB | EOG4HDST6. |
Gene expression databases | |
| ArrayExpress | Q9HBM0. |
| Bgee | Q9HBM0. |
| CleanEx | HS_VEZT. |
| Genevestigator | Q9HBM0. |
| GermOnline | ENSG00000028203. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR026859. Myosin-bd. IPR026858. Vezatin. [Graphical view] |
| PANTHER | PTHR15989. PTHR15989. 1 hit. |
| Pfam | PF12632. Vezatin. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | VEZT. human. |
| GenomeRNAi | 55591. |
| NextBio | 60118. |
Entry information
| Entry name | VEZA_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9HBM0 Secondary accession number(s): Q6P1Q3 Q9UF91 | ||||||||
| Entry 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. | ||||||||
Relevant documents
| Human chromosome 12 Human chromosome 12: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| SIMILARITY comments Index of protein domains and families |

Clusters with
