Q8N3P4 (VPS8_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 95.
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: Vacuolar protein sorting-associated protein 8 homolog | ||||
| Gene names |
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| 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 | 1428 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Sequence similarities | Belongs to the VPS8 family. Contains 1 RING-type zinc finger. Contains 1 WD repeat. |
| Sequence caution | The sequence BAB14322.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence CAH56195.1 differs from that shown. Reason: Frameshift at position 325. Isoform 2: The sequence CAH56195.1 differs from that shown. Reason: Frameshift at position 326. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | WD repeat Zinc-finger |
| Ligand | Metal-binding Zinc |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Molecular_function | zinc ion binding Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8N3P4-1) 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: Q8N3P4-2) The sequence of this isoform differs from the canonical sequence as follows: 179-180: Missing. 578-667: Missing. | ||||||
| Isoform 3 (identifier: Q8N3P4-3) The sequence of this isoform differs from the canonical sequence as follows: 179-180: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1428 | 1428 | Vacuolar protein sorting-associated protein 8 homolog | PRO_0000278267 | |||||
Regions | |||||||||
| Repeat | 195 – 236 | 42 | WD | ||||||
| Zinc finger | 1258 – 1310 | 53 | RING-type; atypical | ||||||
Amino acid modifications | |||||||||
| Modified residue | 26 | 1 | Phosphoserine Ref.6 Ref.7 Ref.8 | ||||||
Natural variations | |||||||||
| Alternative sequence | 179 – 180 | 2 | Missing in isoform 2 and isoform 3. | VSP_023249 | |||||
| Alternative sequence | 578 – 667 | 90 | Missing in isoform 2. | VSP_023250 | |||||
| Natural variant | 83 | 1 | I → V. Ref.2 Corresponds to variant rs9830734 [ dbSNP | Ensembl ]. | VAR_030730 | |||||
| Natural variant | 1165 | 1 | H → Y. Ref.2 Corresponds to variant rs11555405 [ dbSNP | Ensembl ]. | VAR_030731 | |||||
| Natural variant | 1364 | 1 | I → T. Corresponds to variant rs3821750 [ dbSNP | Ensembl ]. | VAR_030732 | |||||
| Natural variant | 1372 | 1 | R → H. Corresponds to variant rs16859527 [ dbSNP | Ensembl ]. | VAR_030733 | |||||
Experimental info | |||||||||
| Sequence conflict | 433 | 1 | E → G in CAH56195. Ref.2 | ||||||
| Sequence conflict | 471 | 1 | K → N in CAH56195. Ref.2 | ||||||
| Sequence conflict | 765 | 1 | A → S in BAB14322. Ref.1 | ||||||
| Sequence conflict | 932 | 1 | Missing in CAH56195. Ref.2 | ||||||
| Sequence conflict | 1042 | 1 | T → A in BAB14322. Ref.1 | ||||||
| Sequence conflict | 1043 | 1 | Q → L in CAH56195. Ref.2 | ||||||
| Sequence conflict | 1167 | 1 | E → G in BAB14322. Ref.1 | ||||||
Sequences
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References
| [1] | "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 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 608-1428 (ISOFORM 1). Tissue: Teratocarcinoma and Testis. |
| [2] | "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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 100-1428 (ISOFORM 1), VARIANTS VAL-83 AND TYR-1165. Tissue: Amygdala and Colon endothelium. |
| [3] | "The DNA sequence, annotation and analysis of human chromosome 3." Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., 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. Gibbs R.A.Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "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 1). Tissue: Brain and Placenta. |
| [5] | "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:277-286(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 218-1428 (ISOFORM 1). Tissue: Brain. |
| [6] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-26, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [7] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-26, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [8] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-26, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK022945 mRNA. Translation: BAB14322.1. Different initiation. AK292423 mRNA. Translation: BAF85112.1. AL833838 mRNA. Translation: CAD38698.1. BX647915 mRNA. Translation: CAH56195.1. Frameshift. AC025573 Genomic DNA. No translation available. AC107294 Genomic DNA. No translation available. AC117436 Genomic DNA. No translation available. BC001001 mRNA. Translation: AAH01001.2. BC140768 mRNA. Translation: AAI40769.1. AB018347 mRNA. Translation: BAA34524.1. |
| IPI | IPI00464985. IPI00549242. |
| RefSeq | NP_001009921.1. NM_001009921.2. NP_056118.2. NM_015303.3. |
| UniGene | Hs.269263. |
3D structure databases | |
| ProteinModelPortal | Q8N3P4. |
| ModBase | Search... |
Protein-protein interaction databases | |
| MINT | MINT-1196904. |
| STRING | 9606.ENSP00000397879. |
PTM databases | |
| PhosphoSite | Q8N3P4. |
Polymorphism databases | |
| DMDM | 296452997. |
Proteomic databases | |
| PaxDb | Q8N3P4. |
| PRIDE | Q8N3P4. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000436792; ENSP00000404704; ENSG00000156931. ENST00000437079; ENSP00000397879; ENSG00000156931. ENST00000446204; ENSP00000405483; ENSG00000156931. |
| GeneID | 23355. |
| KEGG | hsa:23355. |
| UCSC | uc010hyd.1. human. uc010hye.1. human. |
Organism-specific databases | |
| CTD | 23355. |
| GeneCards | GC03P184529. |
| HGNC | HGNC:29122. VPS8. |
| HPA | HPA036871. |
| neXtProt | NX_Q8N3P4. |
| PharmGKB | PA142671617. PA142671888. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG327467. |
| HOGENOM | HOG000013171. |
| HOVERGEN | HBG071091. |
| InParanoid | Q8N3P4. |
| OrthoDB | EOG4ZPDTD. |
Gene expression databases | |
| ArrayExpress | Q8N3P4. |
| Bgee | Q8N3P4. |
| CleanEx | HS_VPS8. |
| Genevestigator | Q8N3P4. |
Family and domain databases | |
| Gene3D | 2.130.10.10. 1 hit. 3.30.40.10. 1 hit. |
| InterPro | IPR011047. Quinonprotein_ADH-like_supfam. IPR025941. Vps8_central_dom. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR017986. WD40_repeat_dom. IPR001841. Znf_RING. IPR013083. Znf_RING/FYVE/PHD. [Graphical view] |
| Pfam | PF12816. Vps8. 1 hit. [Graphical view] |
| SMART | SM00184. RING. 1 hit. [Graphical view] |
| SUPFAM | SSF50998. Quin_alc_DH_like. 1 hit. |
| PROSITE | PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. 1 hit. PS50294. WD_REPEATS_REGION. 1 hit. PS00518. ZF_RING_1. False negative. PS50089. ZF_RING_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 23355. |
| NextBio | 45370. |
Entry information
| Entry name | VPS8_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8N3P4 Secondary accession number(s): A8K8Q8 Q9H9B0 | ||||||||
| Entry history |
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| 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 3 Human chromosome 3: 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
