Q8NEZ3 (WDR19_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 92.
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 19 | ||||
| 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 | 1342 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Involved in cilia function and/or assembly By similarity. |
| Subunit structure | Component of the IFT complex A (IFT-A). Ref.8 |
| Subcellular location | Cell projection › cilium By similarity. Cytoplasm › cytoskeleton › cilium basal body By similarity. Note: Localizes to photoreceptor connecting cilia, to the base of motile cilia in brain ependymal cells and to the base of and along primary cilia in kidney cells By similarity. |
| Tissue specificity | Some isoforms are tissue-specific. Highly expressed in the prostate. Lower expression in the cerebellum, pituitary gland, fetal lung, and pancreas. In normal prostate, expressed in both basal and luminal epithelial cells. No expression detected in fibromuscular stromal cells, endothelial cells, or infiltrating lymphocytes. Uniformed expression in prostate adenocarcinoma cells. Ref.1 |
| Developmental stage | Expressed in fetal lung. |
| Induction | By androgenic hormones. Expression increased 3-fold in an androgen-stimulated androgen-sensitive prostate adenocarcinoma cell line compared with androgen-deprived cells. Ref.1 |
| Involvement in disease | Cranioectodermal dysplasia 4 (CED4) [MIM:614378]: A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described. Asphyxiating thoracic dystrophy 5 (ATD5) [MIM:614376]: An autosomal recessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and hepatic disease can be present in affected individuals who survive early childhood. Nephronophthisis 13 (NPHP13) [MIM:614377]: An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. |
| Sequence similarities | Contains 6 TPR repeats. Contains 6 WD repeats. |
| Sequence caution | The sequence AAH32578.1 differs from that shown. Reason: Frameshift at position 421. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8NEZ3-1) 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: Q8NEZ3-2) The sequence of this isoform differs from the canonical sequence as follows: 453-474: IESEILDAQEERETRLFPAVDD → KAKSWMLTKNVRLGFSQQWMISAVSYAMP 475-1342: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1342 | 1342 | WD repeat-containing protein 19 | PRO_0000233156 | |||||
Regions | |||||||||
| Repeat | 11 – 51 | 41 | WD 1 | ||||||
| Repeat | 52 – 92 | 41 | WD 2 | ||||||
| Repeat | 95 – 134 | 40 | WD 3 | ||||||
| Repeat | 137 – 175 | 39 | WD 4 | ||||||
| Repeat | 273 – 311 | 39 | WD 5 | ||||||
| Repeat | 317 – 356 | 40 | WD 6 | ||||||
| Repeat | 736 – 769 | 34 | TPR 1 | ||||||
| Repeat | 775 – 808 | 34 | TPR 2 | ||||||
| Repeat | 840 – 873 | 34 | TPR 3 | ||||||
| Repeat | 895 – 928 | 34 | TPR 4 | ||||||
| Repeat | 951 – 984 | 34 | TPR 5 | ||||||
| Repeat | 1020 – 1053 | 34 | TPR 6 | ||||||
Natural variations | |||||||||
| Alternative sequence | 453 – 474 | 22 | IESEI…PAVDD → KAKSWMLTKNVRLGFSQQWM ISAVSYAMP in isoform 2. | VSP_018073 | |||||
| Alternative sequence | 475 – 1342 | 868 | Missing in isoform 2. | VSP_018074 | |||||
| Natural variant | 7 | 1 | L → P in ATD5. Ref.9 | VAR_067312 | |||||
| Natural variant | 345 | 1 | V → G in NPHP13. Ref.9 | VAR_067313 | |||||
| Natural variant | 710 | 1 | L → S in CED4. Ref.9 | VAR_067314 | |||||
| Natural variant | 1084 | 1 | G → S. Corresponds to variant rs16995209 [ dbSNP | Ensembl ]. | VAR_053424 | |||||
Experimental info | |||||||||
| Sequence conflict | 22 | 1 | Q → K in AAK38745. Ref.1 | ||||||
| Sequence conflict | 122 | 1 | L → V in BAB15550. Ref.2 | ||||||
| Sequence conflict | 153 | 1 | L → P in BAB15550. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Isolation and characterization of human and mouse WDR19,a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium." Lin B., White J.T., Utleg A.G., Wang S., Ferguson C., True L.D., Vessella R., Hood L., Nelson P.S. Genomics 82:331-342(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, TISSUE SPECIFICITY, INDUCTION. |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Lung. |
| [3] | "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] [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 (JUL-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] (ISOFORM 2). Tissue: Eye. |
| [6] | "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O. DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 335-1239. Tissue: Brain. |
| [7] | "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] [Europe PMC] [Abstract] Cited for: SEQUENCE REVISION. |
| [8] | "TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia." Mukhopadhyay S., Wen X., Chih B., Nelson C.D., Lane W.S., Scales S.J., Jackson P.K. Genes Dev. 24:2180-2193(2010) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE IFT-A COMPLEX. |
| [9] | "Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19." Bredrup C., Saunier S., Oud M.M., Fiskerstrand T., Hoischen A., Brackman D., Leh S.M., Midtbo M., Filhol E., Bole-Feysot C., Nitschke P., Gilissen C., Haugen O.H., Sanders J.S., Stolte-Dijkstra I., Mans D.A., Steenbergen E.J., Hamel B.C. Arts H.H.Am. J. Hum. Genet. 89:634-643(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ATD5 PRO-7, VARIANT NPHP13 GLY-345, VARIANT CED4 SER-710. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY029257 mRNA. Translation: AAK38745.1. AK026780 mRNA. Translation: BAB15550.1. AC093855 Genomic DNA. No translation available. CH471069 Genomic DNA. Translation: EAW92921.1. BC032578 mRNA. Translation: AAH32578.1. Frameshift. AB046858 mRNA. Translation: BAB13464.1. |
| IPI | IPI00396243. IPI00743099. |
| RefSeq | NP_079408.3. NM_025132.3. |
| UniGene | Hs.438482. |
3D structure databases | |
| ProteinModelPortal | Q8NEZ3. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000382717. |
PTM databases | |
| PhosphoSite | Q8NEZ3. |
Polymorphism databases | |
| DMDM | 94730676. |
Proteomic databases | |
| PaxDb | Q8NEZ3. |
| PRIDE | Q8NEZ3. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000399820; ENSP00000382717; ENSG00000157796. |
| GeneID | 57728. |
| KEGG | hsa:57728. |
| UCSC | uc003gtv.3. human. |
Organism-specific databases | |
| CTD | 57728. |
| GeneCards | GC04P039184. |
| H-InvDB | HIX0004161. |
| HGNC | HGNC:18340. WDR19. |
| HPA | HPA039616. |
| MIM | 608151. gene. 614376. phenotype. 614377. phenotype. 614378. phenotype. |
| neXtProt | NX_Q8NEZ3. |
| Orphanet | 655. Autosomal recessive medullary cystic kidney disease. 1515. Cranioectodermal dysplasia. 474. Jeune syndrome. |
| PharmGKB | PA38317. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG317705. |
| HOGENOM | HOG000230828. |
| HOVERGEN | HBG094157. |
| InParanoid | Q8NEZ3. |
| OMA | CLHSDYA. |
| OrthoDB | EOG4JQ3WP. |
Gene expression databases | |
| ArrayExpress | Q8NEZ3. |
| Bgee | Q8NEZ3. |
| CleanEx | HS_WDR19. |
| Genevestigator | Q8NEZ3. |
| GermOnline | ENSG00000157796. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.25.40.10. 3 hits. 2.130.10.10. 3 hits. |
| InterPro | IPR011990. TPR-like_helical. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR017986. WD40_repeat_dom. [Graphical view] |
| SMART | SM00320. WD40. 5 hits. [Graphical view] |
| SUPFAM | SSF50978. WD40_like. 2 hits. |
| PROSITE | PS50005. TPR. False negative. PS50293. TPR_REGION. False negative. PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. False negative. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 57728. |
| NextBio | 64676. |
| SOURCE | Search... |
Entry information
| Entry name | WDR19_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NEZ3 Secondary accession number(s): B5MEF2 Q9HCD4 | ||||||||
| 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 4 Human chromosome 4: 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
