Q9P2L0 (WDR35_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 89.
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 35 Alternative name(s): Intraflagellar transport protein 121 homolog | ||||
| Gene names |
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| 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 | 1181 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May promote CASP3 activation and TNF-stimulated apoptosis. Required for ciliogenesis. Ref.8 Ref.9 |
| Subunit structure | Interacts with IFT43. Ref.7 |
| Subcellular location | Cytoplasm › cytoskeleton › centrosome By similarity. Cytoplasm › cytoskeleton › cilium axoneme By similarity. Cytoplasm › cytoskeleton › cilium basal body By similarity. |
| Induction | By TNF. Ref.8 |
| Involvement in disease | Defects in WDR35 are the cause of cranioectodermal dysplasia type 2 (CED2) [MIM:613610]. A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include short stature, dolichocephaly, craniosynostosis, narrow thorax with pectus excavatum, short limbs, brachydactyly, joint laxity, narrow palpebral fissures, telecanthus with hypertelorism, low-set simple ears, everted lower lip, and short neck. Teeth abnormalities included widely spaced, hypoplastic and fused teeth. Ref.10 Defects in WDR35 are the cause of short rib-polydactyly syndrome type 5 (SRPS5) [MIM:614091]. A lethal skeletal dysplasia characterized by markedly short ribs, short limbs, polydactyly, narrow thorax, and multiple anomalies of major organs, including heart, intestines, genitalia, kidney, liver, and pancreas. Additional SRPS5 hallmarks are acromesomelic hypomineralization, campomelia, polysyndactyly, laterality defects, and cystic kidneys. Note=WDR35 mutations cause short rib-polydactyly syndrome through impaired cilia formation. Primary fibroblasts from SRPS5 patients lacking WDR35 fail to produce cilia (Ref.9). Ref.9 |
| Sequence similarities | Contains 5 WD repeats. |
| Sequence caution | The sequence BAA92574.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Cilium biogenesis/degradation |
| Cellular component | Cell projection Cilium Cytoplasm Cytoskeleton |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Ciliopathy Disease mutation Ectodermal dysplasia |
| Domain | Repeat WD repeat |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | cilium assembly Inferred from mutant phenotype Ref.9. Source: UniProtKB |
| Cellular component | centrosome Inferred from sequence or structural similarity. Source: UniProtKB cilium axonemeInferred from sequence or structural similarity. Source: UniProtKB microtubule basal bodyInferred from sequence or structural similarity. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9P2L0-1) 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: Q9P2L0-2) The sequence of this isoform differs from the canonical sequence as follows: 399-409: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1181 | 1181 | WD repeat-containing protein 35 | PRO_0000051384 | |||||
Regions | |||||||||
| Repeat | 12 – 51 | 40 | WD 1 | ||||||
| Repeat | 69 – 108 | 40 | WD 2 | ||||||
| Repeat | 113 – 152 | 40 | WD 3 | ||||||
| Repeat | 154 – 193 | 40 | WD 4 | ||||||
| Repeat | 502 – 539 | 38 | WD 5 | ||||||
Natural variations | |||||||||
| Alternative sequence | 399 – 409 | 11 | Missing in isoform 2. | VSP_009732 | |||||
| Natural variant | 18 | 1 | Q → R. Corresponds to variant rs1060742 [ dbSNP | Ensembl ]. | VAR_053428 | |||||
| Natural variant | 261 | 1 | W → R in SRPS5. Ref.9 | VAR_065955 | |||||
| Natural variant | 626 | 1 | E → G in CED2. Ref.10 | VAR_064581 | |||||
| Natural variant | 875 | 1 | A → T in CED2. Ref.10 | VAR_064582 | |||||
| Natural variant | 878 | 1 | A → P. Corresponds to variant rs2293669 [ dbSNP | Ensembl ]. | VAR_062102 | |||||
| Natural variant | 878 | 1 | A → T. Ref.6 Corresponds to variant rs2293669 [ dbSNP | Ensembl ]. | VAR_062103 | |||||
| Natural variant | 983 | 1 | E → G. Ref.3 Corresponds to variant rs1191778 [ dbSNP | Ensembl ]. | VAR_053429 | |||||
Experimental info | |||||||||
| Sequence conflict | 1078 | 1 | S → G in AAH36659. Ref.6 | ||||||
| Sequence conflict | 1171 | 1 | S → G in BAG53797. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:65-73(2000) [PubMed: 10718198] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [2] | "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract] Cited for: SEQUENCE REVISION. |
| [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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLY-983. Tissue: Testis. |
| [4] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | 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]. |
| [6] | "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] (ISOFORM 2), VARIANT THR-878. Tissue: Testis. |
| [7] | "SnapShot: Intraflagellar transport." Cole D.G., Snell W.J. Cell 137:784-784(2009) [PubMed: 19450523] [Abstract] Cited for: INTERACTION WITH IFT43. |
| [8] | "Naofen, a novel WD40-repeat protein, mediates spontaneous and tumor necrosis factor-induced apoptosis." Feng G.G., Li C., Huang L., Tsunekawa K., Sato Y., Fujiwara Y., Komatsu T., Honda T., Fan J.H., Goto H., Koide T., Hasegawa T., Ishikawa N. Biochem. Biophys. Res. Commun. 394:153-157(2010) [PubMed: 20193664] [Abstract] Cited for: FUNCTION, INDUCTION. |
| [9] | "Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis." Mill P., Lockhart P.J., Fitzpatrick E., Mountford H.S., Hall E.A., Reijns M.A., Keighren M., Bahlo M., Bromhead C.J., Budd P., Aftimos S., Delatycki M.B., Savarirayan R., Jackson I.J., Amor D.J. Am. J. Hum. Genet. 88:508-515(2011) [PubMed: 21473986] [Abstract] Cited for: FUNCTION, VARIANT SRPS5 ARG-261. |
| [10] | "Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome." Gilissen C., Arts H.H., Hoischen A., Spruijt L., Mans D.A., Arts P., van Lier B., Steehouwer M., van Reeuwijk J., Kant S.G., Roepman R., Knoers N.V., Veltman J.A., Brunner H.G. Am. J. Hum. Genet. 87:418-423(2010) [PubMed: 20817137] [Abstract] Cited for: VARIANTS CED2 GLY-626 AND THR-875. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB037757 mRNA. Translation: BAA92574.2. Different initiation. AK122917 mRNA. Translation: BAG53797.1. AC079145 Genomic DNA. Translation: AAX88936.1. CH471053 Genomic DNA. Translation: EAX00841.1. BC036659 mRNA. Translation: AAH36659.1. |
| IPI | IPI00165984. IPI00172480. |
| RefSeq | NP_001006658.1. NM_001006657.1. NP_065830.2. NM_020779.3. |
| UniGene | Hs.205427. |
3D structure databases | |
| ProteinModelPortal | Q9P2L0. |
| SMR | Q9P2L0. Positions 14-144, 509-577. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9P2L0. 1 interaction. |
| STRING | Q9P2L0. |
PTM databases | |
| PhosphoSite | Q9P2L0. |
Polymorphism databases | |
| DMDM | 48474987. |
Proteomic databases | |
| PRIDE | Q9P2L0. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000345530; ENSP00000314444; ENSG00000118965. |
| GeneID | 57539. |
| KEGG | hsa:57539. |
| UCSC | uc002rdi.1. human. uc002rdj.1. human. |
Organism-specific databases | |
| CTD | 57539. |
| GeneCards | GC02M020110. |
| H-InvDB | HIX0200248. |
| HGNC | HGNC:29250. WDR35. |
| HPA | HPA044147. |
| MIM | 613602. gene. 613610. phenotype. 614091. phenotype. |
| neXtProt | NX_Q9P2L0. |
| Orphanet | 1515. Sensenbrenner syndrome. 93271. Short rib-polydactyly syndrome, Verma-Naumoff type. |
| PharmGKB | PA134928987. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| GeneTree | ENSGT00600000084110. |
| HOGENOM | HBG358323. |
| HOVERGEN | HBG079343. |
| InParanoid | Q9P2L0. |
| OMA | SRAFGTC. |
| OrthoDB | EOG43FGW3. |
| PhylomeDB | Q9P2L0. |
Gene expression databases | |
| ArrayExpress | Q9P2L0. |
| Bgee | Q9P2L0. |
| CleanEx | HS_WDR35. |
| Genevestigator | Q9P2L0. |
| GermOnline | ENSG00000118965. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR011046. WD40_repeat-like_dom. IPR017986. WD40_repeat_dom. IPR017233. WD_repeat_p35. [Graphical view] |
| Gene3D | G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 3 hits. |
| Pfam | PF00400. WD40. 2 hits. [Graphical view] |
| PIRSF | PIRSF037536. WD_repeat_p35. 1 hit. |
| SMART | SM00320. WD40. 5 hits. [Graphical view] |
| SUPFAM | SSF50978. WD40_like. 1 hit. |
| PROSITE | PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. 1 hit. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 63968. |
| SOURCE | Search... |
Entry information
| Entry name | WDR35_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9P2L0 Secondary accession number(s): B3KVI5, Q4ZG01, Q8NE11 | ||||||||
| 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 2 Human chromosome 2: 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 |

Clusters with