Reviewed,
UniProtKB/Swiss-Prot Q9P2S5 (WDR8_HUMAN)
Last modified
June 16, 2009.
Version 67.
History...
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents
Names and origin
| Protein names | Recommended name: WD repeat-containing protein 8 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 460 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat WD repeat |
| Gene Ontology (GO) | |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | protein binding Inferred from physical interaction. Source: IntAct |
| Complete GO annotation... | |
Binary interactions
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9P2S5-1) 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: Q9P2S5-2) The sequence of this isoform differs from the canonical sequence as follows: 415-460: DFAVLSLCWHLSGDSMALLSKDHFCLCFLETEAVVGTACRQLGGHT → KHIPEATDVAALLCAVWHHTG | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 460 | 460 | WD repeat-containing protein 8 | PRO_0000051356 | |||||
Regions | |||||||||
| Repeat | 46 – 86 | 41 | WD 1 | ||||||
| Repeat | 89 – 129 | 41 | WD 2 | ||||||
| Repeat | 176 – 210 | 35 | WD 3 | ||||||
| Repeat | 221 – 260 | 40 | WD 4 | ||||||
| Repeat | 328 – 369 | 42 | WD 5 | ||||||
| Repeat | 371 – 410 | 40 | WD 6 | ||||||
Natural variations | |||||||||
| Alternative sequence | 415 – 460 | 46 | DFAVL…LGGHT → KHIPEATDVAALLCAVWHHT G in isoform 2. | VSP_016112 | |||||
| Natural variant | 331 | 1 | I → M: dbSNP rs2760320. | VAR_057624 | |||||
| Natural variant | 358 | 1 | V → I: dbSNP rs16823940. | VAR_057625 | |||||
Experimental info | |||||||||
| Sequence conflict | 381 | 1 | W → R in BAA91164. Ref.2 | ||||||
| Sequence conflict | 405 | 1 | C → R in BAA91164. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Isolation, characterization, and mapping of the mouse and human WDR8 genes, members of a novel WD-repeat gene family." Koshizuka Y., Ikegawa S., Sano M., Nakamura K., Nakamura Y. Genomics 72:252-259(2001) [PubMed: 11401440] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Carcinoma. |
| [3] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed: 16710414] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Lung and Lymph. |
Cross-references
Sequence databases | |
|---|---|
| AB034912 mRNA. Translation: BAA92312.1. AK000437 mRNA. Translation: BAA91164.1. AL513320, AL136528 Genomic DNA. Translation: CAI14335.1. AL513320, AL136528 Genomic DNA. Translation: CAI14336.1. AL136528, AL513320 Genomic DNA. Translation: CAI19128.1. AL136528, AL513320 Genomic DNA. Translation: CAI19129.1. BC002611 mRNA. Translation: AAH02611.1. BC086311 mRNA. Translation: AAH86311.1. | |
| IPI | IPI00293015. IPI00644542. |
| RefSeq | NP_060288.3. |
| UniGene | Hs.31714 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9P2S5. 57 interactions. |
PTM databases | |
| PhosphoSite | Q9P2S5. |
Proteomic databases | |
| PRIDE | Q9P2S5. |
Genome annotation databases | |
| Ensembl | ENSG00000116213. Homo sapiens. [Contig view] |
| GeneID | 49856. |
| KEGG | hsa:49856. |
Organism-specific databases | |
| GeneCards | GC01M003570. |
| H-InvDB | HIX0020054. |
| HGNC | HGNC:12759. WDR8. |
| MIM | 606040. gene. |
| PharmGKB | PA37363. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q9P2S5. |
| HOVERGEN | Q9P2S5. |
| OMA | Q9P2S5. ERRDCKD. |
Gene expression databases | |
| ArrayExpress | Q9P2S5. |
| Bgee | Q9P2S5. |
| CleanEx | HS_WDR8. |
| GermOnline | ENSG00000116213. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR015943. WD40/YVTN_repeat-like. IPR001680. WD40_repeat. IPR019775. WD40_repeat_CS. IPR019781. WD40_repeat_sg. [Graphical view] |
| Gene3D | G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 2 hits. |
| Pfam | PF00400. WD40. 1 hit. [Graphical view] |
| SMART | SM00320. WD40. 4 hits. [Graphical view] |
| PROSITE | PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. False negative. PS50294. WD_REPEATS_REGION. False negative. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 53024. |
| SOURCE | Search... |
Entry information
| Entry name | WDR8_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9P2S5 Secondary accession number(s): Q5T0D6 Q9NX56 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: 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 |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

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