Q96KV7 (WDR90_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 88.
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: WD repeat-containing protein 90 | ||||
| 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 | 1748 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Sequence similarities | Contains 21 WD repeats. |
| Sequence caution | The sequence AAK61239.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence BAB67817.1 differs from that shown. Reason: Intron retention. The sequence BAC03575.1 differs from that shown. Reason: Unlikely isoform. Aberrant splicing. The sequence BAC04225.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAC04225.1 differs from that shown. Reason: Probable cloning artifact. The sequence BAD18654.1 differs from that shown. Reason: Probable cloning artifact. The sequence EAW85775.1 differs from that shown. Reason: Erroneous gene model prediction. Isoform 3: The sequence AAI21187.1 differs from that shown. Reason: Frameshift at position 697. Isoform 5: The sequence AAI21186.1 differs from that shown. Reason: Frameshift at position 697. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat WD repeat |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| None. [Check GOA] | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96KV7-1) 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. | ||||||
| Note: Gene prediction based on partial mRNA and EST data. | ||||||
| Isoform 2 (identifier: Q96KV7-10) The sequence of this isoform differs from the canonical sequence as follows: 1-1401: Missing. 1402-1437: DDSVDMGVVGTTAGTLWFVSWAEGTSTRLISGHRSK → MLWFGQPGPGGWNRKCLRPFTLPRGQHPQPSYGFPQ 1629-1672: TQGHLPPSLA...NLCQKQVVEK → VNHAPGTVGG...LPSALGMGRS 1673-1748: Missing. | ||||||
| Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. Ref.1 (BAC04205) sequence differs from that shown at position 252 due to erroneous termination. | ||||||
| Isoform 3 (identifier: Q96KV7-3) The sequence of this isoform differs from the canonical sequence as follows: 656-708: EHEGPVSSVC...HTAPVLALAM → GDAVGTLSQL...QVAYPEPWGG 709-1748: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q96KV7-7) The sequence of this isoform differs from the canonical sequence as follows: 1-1401: Missing. 1402-1437: DDSVDMGVVGTTAGTLWFVSWAEGTSTRLISGHRSK → MLWFGQPGPGGWNRKCLRPFTLPRGQHPQPSYGFPQ 1580-1627: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q96KV7-5) The sequence of this isoform differs from the canonical sequence as follows: 280-280: A → AQ 656-708: EHEGPVSSVC...HTAPVLALAM → GDAVGTLSQL...QVAYPEPWGG 709-1748: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1748 | 1748 | WD repeat-containing protein 90 | PRO_0000341412 | |||||
Regions | |||||||||
| Repeat | 407 – 450 | 44 | WD 1 | ||||||
| Repeat | 452 – 494 | 43 | WD 2 | ||||||
| Repeat | 501 – 541 | 41 | WD 3 | ||||||
| Repeat | 615 – 654 | 40 | WD 4 | ||||||
| Repeat | 656 – 695 | 40 | WD 5 | ||||||
| Repeat | 698 – 737 | 40 | WD 6 | ||||||
| Repeat | 740 – 779 | 40 | WD 7 | ||||||
| Repeat | 782 – 821 | 40 | WD 8 | ||||||
| Repeat | 882 – 922 | 41 | WD 9 | ||||||
| Repeat | 926 – 964 | 39 | WD 10 | ||||||
| Repeat | 969 – 1009 | 41 | WD 11 | ||||||
| Repeat | 1156 – 1201 | 46 | WD 12 | ||||||
| Repeat | 1204 – 1245 | 42 | WD 13 | ||||||
| Repeat | 1247 – 1286 | 40 | WD 14 | ||||||
| Repeat | 1298 – 1326 | 29 | WD 15 | ||||||
| Repeat | 1327 – 1376 | 50 | WD 16 | ||||||
| Repeat | 1433 – 1472 | 40 | WD 17 | ||||||
| Repeat | 1475 – 1520 | 46 | WD 18 | ||||||
| Repeat | 1523 – 1562 | 40 | WD 19 | ||||||
| Repeat | 1568 – 1614 | 47 | WD 20 | ||||||
| Repeat | 1715 – 1748 | 34 | WD 21 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 241 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 1401 | 1401 | Missing in isoform 2 and isoform 4. | VSP_034290 | |||||
| Alternative sequence | 280 | 1 | A → AQ in isoform 5. | VSP_034294 | |||||
| Alternative sequence | 656 – 708 | 53 | EHEGP…LALAM → GDAVGTLSQLPESLAWMLGR GRPSPRGSAVSRPGSWLHRV PRGQVAYPEPWGG in isoform 3 and isoform 5. | VSP_034298 | |||||
| Alternative sequence | 709 – 1748 | 1040 | Missing in isoform 3 and isoform 5. | VSP_034300 | |||||
| Alternative sequence | 1402 – 1437 | 36 | DDSVD…GHRSK → MLWFGQPGPGGWNRKCLRPF TLPRGQHPQPSYGFPQ in isoform 2 and isoform 4. | VSP_034303 | |||||
| Alternative sequence | 1580 – 1627 | 48 | Missing in isoform 4. | VSP_034306 | |||||
| Alternative sequence | 1629 – 1672 | 44 | TQGHL…QVVEK → VNHAPGTVGGAGTHPPHRSM LRLCRLRATWHPPSLPSALG MGRS in isoform 2. | VSP_041087 | |||||
| Alternative sequence | 1673 – 1748 | 76 | Missing in isoform 2. | VSP_041088 | |||||
| Natural variant | 165 | 1 | S → T. Ref.1 Ref.5 Ref.6 Corresponds to variant rs13337278 [ dbSNP | Ensembl ]. | VAR_044060 | |||||
| Natural variant | 250 | 1 | P → L. Ref.5 Corresponds to variant rs11642546 [ dbSNP | Ensembl ]. | VAR_044061 | |||||
| Natural variant | 537 | 1 | V → A. Ref.5 Corresponds to variant rs3803697 [ dbSNP | Ensembl ]. | VAR_044062 | |||||
| Natural variant | 1001 | 1 | P → T. Ref.1 Corresponds to variant rs4984906 [ dbSNP | Ensembl ]. | VAR_044063 | |||||
| Natural variant | 1492 | 1 | R → H. Corresponds to variant rs7190775 [ dbSNP | Ensembl ]. | VAR_044064 | |||||
| Natural variant | 1555 | 1 | C → R. Corresponds to variant rs11866949 [ dbSNP | Ensembl ]. | VAR_044065 | |||||
Experimental info | |||||||||
| Sequence conflict | 899 | 1 | H → Q in BAD18654. Ref.1 | ||||||
| Sequence conflict | 1085 | 1 | P → L in BAD18654. Ref.1 | ||||||
| Sequence conflict | 1245 | 1 | S → P in BAC04225. Ref.1 | ||||||
| Sequence conflict | 1302 | 1 | E → G in BAC04225. 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] (ISOFORMS 1 AND 2), VARIANTS THR-165 AND THR-1001. Tissue: Cerebellum, Thymus and Uterus. |
| [2] | "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16." Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R. Hum. Mol. Genet. 10:339-352(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "The sequence and analysis of duplication-rich human chromosome 16." Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. Pennacchio L.A.Nature 432:988-994(2004) [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. 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] (ISOFORMS 3; 4 AND 5), VARIANTS THR-165; LEU-250 AND ALA-537. Tissue: Brain. |
| [6] | "Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins." Nagase T., Kikuno R., Ohara O. DNA Res. 8:179-187(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1138 (ISOFORM 1), VARIANT THR-165. Tissue: Brain. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK091062 mRNA. Translation: BAC03575.1. Sequence problems. AK093609 mRNA. Translation: BAC04205.1. Sequence problems. AK093802 mRNA. Translation: BAC04225.1. Sequence problems. AK131510 mRNA. Translation: BAD18654.1. Sequence problems. AE006464 Genomic DNA. Translation: AAK61239.1. Sequence problems. AL022341 Genomic DNA. Translation: CAC79469.1. Z92544 Genomic DNA. No translation available. CH471112 Genomic DNA. Translation: EAW85775.1. Sequence problems. BC065836 mRNA. Translation: AAH65836.1. BC121185 mRNA. Translation: AAI21186.1. Frameshift. BC121186 mRNA. Translation: AAI21187.1. Frameshift. AB067511 mRNA. Translation: BAB67817.1. Sequence problems. |
| IPI | IPI00439437. IPI00847889. IPI00895900. IPI00903109. IPI01017969. |
| RefSeq | NP_660337.3. NM_145294.4. |
| UniGene | Hs.511903. |
3D structure databases | |
| ProteinModelPortal | Q96KV7. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q96KV7. |
Polymorphism databases | |
| DMDM | 190423649. |
Proteomic databases | |
| PaxDb | Q96KV7. |
| PRIDE | Q96KV7. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000293879; ENSP00000293879; ENSG00000161996. ENST00000315764; ENSP00000322808; ENSG00000161996. |
| GeneID | 197335. |
| KEGG | hsa:197335. |
| UCSC | uc002cig.1. human. uc002cii.1. human. uc002cin.1. human. |
Organism-specific databases | |
| CTD | 197335. |
| GeneCards | GC16P000699. |
| H-InvDB | HIX0012659. |
| HGNC | HGNC:26960. WDR90. |
| neXtProt | NX_Q96KV7. |
| PharmGKB | PA145147652. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG2319. |
| HOVERGEN | HBG108675. |
| InParanoid | Q96KV7. |
Enzyme and pathway databases | |
| SignaLink | Q96KV7. |
Gene expression databases | |
| ArrayExpress | Q96KV7. |
| Bgee | Q96KV7. |
| CleanEx | HS_WDR90. |
| Genevestigator | Q96KV7. |
Family and domain databases | |
| Gene3D | 2.130.10.10. 5 hits. |
| InterPro | IPR007714. DUF667. IPR021717. Nucleoporin_Nup160. IPR011047. Quinonprotein_ADH-like_supfam. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_dom. [Graphical view] |
| Pfam | PF05018. DUF667. 1 hit. PF11715. Nup160. 1 hit. PF00400. WD40. 5 hits. [Graphical view] |
| SMART | SM00320. WD40. 20 hits. [Graphical view] |
| SUPFAM | SSF50998. Quin_alc_DH_like. 2 hits. SSF50978. WD40_like. 2 hits. |
| PROSITE | PS00678. WD_REPEATS_1. 1 hit. PS50082. WD_REPEATS_2. 2 hits. PS50294. WD_REPEATS_REGION. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | WDR90. human. |
| GenomeRNAi | 197335. |
| NextBio | 89648. |
Entry information
| Entry name | WDR90_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96KV7 Secondary accession number(s): Q0VA87 Q96S18 | ||||||||
| 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 16 Human chromosome 16: 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
