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Q8NEZ3

- WDR19_HUMAN

UniProt

Q8NEZ3 - WDR19_HUMAN

Protein

WD repeat-containing protein 19

Gene

WDR19

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 2 (02 May 2006)
      Previous versions | rss
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    Functioni

    Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Involved in cilia function and/or assembly By similarity.By similarity

    GO - Biological processi

    1. ciliary receptor clustering involved in smoothened signaling pathway Source: Ensembl
    2. cilium assembly Source: Ensembl
    3. digestive system development Source: Ensembl
    4. ear morphogenesis Source: Ensembl
    5. embryonic camera-type eye development Source: Ensembl
    6. embryonic cranial skeleton morphogenesis Source: Ensembl
    7. embryonic limb morphogenesis Source: Ensembl
    8. intraciliary retrograde transport Source: MGI
    9. in utero embryonic development Source: Ensembl
    10. myotome development Source: Ensembl
    11. neurological system process Source: Ensembl
    12. smoothened signaling pathway involved in dorsal/ventral neural tube patterning Source: Ensembl

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    WD repeat-containing protein 19
    Gene namesi
    Name:WDR19
    Synonyms:KIAA1638
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:18340. WDR19.

    Subcellular locationi

    Cell projectioncilium By similarity. Cytoplasmcytoskeletoncilium 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

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-KW
    2. cytoskeleton Source: UniProtKB-KW
    3. intraciliary transport particle A Source: UniProtKB
    4. motile cilium Source: UniProtKB
    5. nonmotile primary cilium Source: UniProtKB
    6. photoreceptor connecting cilium Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti710 – 7101L → S in CED4. 1 Publication
    VAR_067314
    Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5) [MIM:614376]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71L → P in SRTD5. 1 Publication
    VAR_067312
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti345 – 3451V → G in NPHP13. 1 Publication
    VAR_067313

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Ectodermal dysplasia, Nephronophthisis

    Organism-specific databases

    MIMi614376. phenotype.
    614377. phenotype.
    614378. phenotype.
    Orphaneti1515. Cranioectodermal dysplasia.
    474. Jeune syndrome.
    93592. Juvenile autosomal recessive medullary cystic kidney disease.
    PharmGKBiPA38317.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 13421342WD repeat-containing protein 19PRO_0000233156Add
    BLAST

    Proteomic databases

    MaxQBiQ8NEZ3.
    PaxDbiQ8NEZ3.
    PRIDEiQ8NEZ3.

    PTM databases

    PhosphoSiteiQ8NEZ3.

    Expressioni

    Tissue specificityi

    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.1 Publication

    Developmental stagei

    Expressed in fetal lung.

    Inductioni

    By androgenic hormones. Expression increased 3-fold in an androgen-stimulated androgen-sensitive prostate adenocarcinoma cell line compared with androgen-deprived cells.1 Publication

    Gene expression databases

    ArrayExpressiQ8NEZ3.
    BgeeiQ8NEZ3.
    CleanExiHS_WDR19.
    GenevestigatoriQ8NEZ3.

    Organism-specific databases

    HPAiHPA039616.

    Interactioni

    Subunit structurei

    Component of the IFT complex A (IFT-A).1 Publication

    Protein-protein interaction databases

    BioGridi121748. 2 interactions.
    STRINGi9606.ENSP00000382717.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NEZ3.
    SMRiQ8NEZ3. Positions 60-162, 477-506, 657-698, 762-803.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati11 – 5141WD 1Add
    BLAST
    Repeati52 – 9241WD 2Add
    BLAST
    Repeati95 – 13440WD 3Add
    BLAST
    Repeati137 – 17539WD 4Add
    BLAST
    Repeati273 – 31139WD 5Add
    BLAST
    Repeati317 – 35640WD 6Add
    BLAST
    Repeati736 – 76934TPR 1Add
    BLAST
    Repeati775 – 80834TPR 2Add
    BLAST
    Repeati840 – 87334TPR 3Add
    BLAST
    Repeati895 – 92834TPR 4Add
    BLAST
    Repeati951 – 98434TPR 5Add
    BLAST
    Repeati1020 – 105334TPR 6Add
    BLAST

    Sequence similaritiesi

    Contains 6 TPR repeats.Curated
    Contains 6 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, TPR repeat, WD repeat

    Phylogenomic databases

    eggNOGiNOG317705.
    HOGENOMiHOG000230828.
    HOVERGENiHBG094157.
    InParanoidiQ8NEZ3.
    OMAiTVCPHCD.
    OrthoDBiEOG7FNC6X.
    PhylomeDBiQ8NEZ3.
    TreeFamiTF314758.

    Family and domain databases

    Gene3Di1.25.40.10. 3 hits.
    2.130.10.10. 3 hits.
    InterProiIPR011990. TPR-like_helical.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    SMARTiSM00320. WD40. 5 hits.
    [Graphical view]
    PROSITEiPS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NEZ3-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MKRIFSLLEK TWLGAPIQFA WQKTSGNYLA VTGADYIVKI FDRHGQKRSE     50
    INLPGNCVAM DWDKDGDVLA VIAEKSSCIY LWDANTNKTS QLDNGMRDQM 100
    SFLLWSKVGS FLAVGTVKGN LLIYNHQTSR KIPVLGKHTK RITCGCWNAE 150
    NLLALGGEDK MITVSNQEGD TIRQTQVRSE PSNMQFFLMK MDDRTSAAES 200
    MISVVLGKKT LFFLNLNEPD NPADLEFQQD FGNIVCYNWY GDGRIMIGFS 250
    CGHFVVISTH TGELGQEIFQ ARNHKDNLTS IAVSQTLNKV ATCGDNCIKI 300
    QDLVDLKDMY VILNLDEENK GLGTLSWTDD GQLLALSTQR GSLHVFLTKL 350
    PILGDACSTR IAYLTSLLEV TVANPVEGEL PITVSVDVEP NFVAVGLYHL 400
    AVGMNNRAWF YVLGENAVKK LKDMEYLGTV ASICLHSDYA AALFEGKVQL 450
    HLIESEILDA QEERETRLFP AVDDKCRILC HALTSDFLIY GTDTGVVQYF 500
    YIEDWQFVND YRHPVSVKKI FPDPNGTRLV FIDEKSDGFV YCPVNDATYE 550
    IPDFSPTIKG VLWENWPMDK GVFIAYDDDK VYTYVFHKDT IQGAKVILAG 600
    STKVPFAHKP LLLYNGELTC QTQSGKVNNI YLSTHGFLSN LKDTGPDELR 650
    PMLAQNLMLK RFSDAWEMCR ILNDEAAWNE LARACLHHME VEFAIRVYRR 700
    IGNVGIVMSL EQIKGIEDYN LLAGHLAMFT NDYNLAQDLY LASSCPIAAL 750
    EMRRDLQHWD SALQLAKHLA PDQIPFISKE YAIQLEFAGD YVNALAHYEK 800
    GITGDNKEHD EACLAGVAQM SIRMGDIRRG VNQALKHPSR VLKRDCGAIL 850
    ENMKQFSEAA QLYEKGLYYD KAASVYIRSK NWAKVGDLLP HVSSPKIHLQ 900
    YAKAKEADGR YKEAVVAYEN AKQWQSVIRI YLDHLNNPEK AVNIVRETQS 950
    LDGAKMVARF FLQLGDYGSA IQFLVMSKCN NEAFTLAQQH NKMEIYADII 1000
    GSEDTTNEDY QSIALYFEGE KRYLQAGKFF LLCGQYSRAL KHFLKCPSSE 1050
    DNVAIEMAIE TVGQAKDELL TNQLIDHLLG ENDGMPKDAK YLFRLYMALK 1100
    QYREAAQTAI IIAREEQSAG NYRNAHDVLF SMYAELKSQK IKIPSEMATN 1150
    LMILHSYILV KIHVKNGDHM KGARMLIRVA NNISKFPSHI VPILTSTVIE 1200
    CHRAGLKNSA FSFAAMLMRP EYRSKIDAKY KKKIEGMVRR PDISEIEEAT 1250
    TPCPFCKFLL PECELLCPGC KNSIPYCIAT GRHMLKDDWT VCPHCDFPAL 1300
    YSELKIMLNT ESTCPMCSER LNAAQLKKIS DCTQYLRTEE EL 1342
    Length:1,342
    Mass (Da):151,581
    Last modified:May 2, 2006 - v2
    Checksum:iFF3DD302231CB5F6
    GO
    Isoform 2 (identifier: Q8NEZ3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         453-474: IESEILDAQEERETRLFPAVDD → KAKSWMLTKNVRLGFSQQWMISAVSYAMP
         475-1342: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:481
    Mass (Da):53,573
    Checksum:i5258635611B2B67A
    GO

    Sequence cautioni

    The sequence AAH32578.1 differs from that shown. Reason: Frameshift at position 421.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti22 – 221Q → K in AAK38745. (PubMed:12906858)Curated
    Sequence conflicti122 – 1221L → V in BAB15550. (PubMed:14702039)Curated
    Sequence conflicti153 – 1531L → P in BAB15550. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71L → P in SRTD5. 1 Publication
    VAR_067312
    Natural varianti345 – 3451V → G in NPHP13. 1 Publication
    VAR_067313
    Natural varianti710 – 7101L → S in CED4. 1 Publication
    VAR_067314
    Natural varianti1084 – 10841G → S.
    Corresponds to variant rs16995209 [ dbSNP | Ensembl ].
    VAR_053424

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei453 – 47422IESEI…PAVDD → KAKSWMLTKNVRLGFSQQWM ISAVSYAMP in isoform 2. 2 PublicationsVSP_018073Add
    BLAST
    Alternative sequencei475 – 1342868Missing in isoform 2. 2 PublicationsVSP_018074Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS47042.1. [Q8NEZ3-1]
    RefSeqiNP_079408.3. NM_025132.3. [Q8NEZ3-1]
    UniGeneiHs.438482.

    Genome annotation databases

    EnsembliENST00000399820; ENSP00000382717; ENSG00000157796. [Q8NEZ3-1]
    GeneIDi57728.
    KEGGihsa:57728.
    UCSCiuc003gtv.3. human. [Q8NEZ3-1]

    Polymorphism databases

    DMDMi94730676.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS47042.1. [Q8NEZ3-1 ]
    RefSeqi NP_079408.3. NM_025132.3. [Q8NEZ3-1 ]
    UniGenei Hs.438482.

    3D structure databases

    ProteinModelPortali Q8NEZ3.
    SMRi Q8NEZ3. Positions 60-162, 477-506, 657-698, 762-803.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121748. 2 interactions.
    STRINGi 9606.ENSP00000382717.

    PTM databases

    PhosphoSitei Q8NEZ3.

    Polymorphism databases

    DMDMi 94730676.

    Proteomic databases

    MaxQBi Q8NEZ3.
    PaxDbi Q8NEZ3.
    PRIDEi Q8NEZ3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000399820 ; ENSP00000382717 ; ENSG00000157796 . [Q8NEZ3-1 ]
    GeneIDi 57728.
    KEGGi hsa:57728.
    UCSCi uc003gtv.3. human. [Q8NEZ3-1 ]

    Organism-specific databases

    CTDi 57728.
    GeneCardsi GC04P039184.
    GeneReviewsi WDR19.
    H-InvDB HIX0004161.
    HGNCi HGNC:18340. WDR19.
    HPAi HPA039616.
    MIMi 608151. gene.
    614376. phenotype.
    614377. phenotype.
    614378. phenotype.
    neXtProti NX_Q8NEZ3.
    Orphaneti 1515. Cranioectodermal dysplasia.
    474. Jeune syndrome.
    93592. Juvenile autosomal recessive medullary cystic kidney disease.
    PharmGKBi PA38317.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG317705.
    HOGENOMi HOG000230828.
    HOVERGENi HBG094157.
    InParanoidi Q8NEZ3.
    OMAi TVCPHCD.
    OrthoDBi EOG7FNC6X.
    PhylomeDBi Q8NEZ3.
    TreeFami TF314758.

    Miscellaneous databases

    GenomeRNAii 57728.
    NextBioi 64676.
    PROi Q8NEZ3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8NEZ3.
    Bgeei Q8NEZ3.
    CleanExi HS_WDR19.
    Genevestigatori Q8NEZ3.

    Family and domain databases

    Gene3Di 1.25.40.10. 3 hits.
    2.130.10.10. 3 hits.
    InterProi IPR011990. TPR-like_helical.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    SMARTi SM00320. WD40. 5 hits.
    [Graphical view ]
    PROSITEi PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. 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. Cited for: VARIANT SRTD5 PRO-7, VARIANT NPHP13 GLY-345, VARIANT CED4 SER-710.

    Entry informationi

    Entry nameiWDR19_HUMAN
    AccessioniPrimary (citable) accession number: Q8NEZ3
    Secondary accession number(s): B5MEF2
    , Q8N5B4, Q9H5S0, Q9HCD4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 2, 2006
    Last sequence update: May 2, 2006
    Last modified: October 1, 2014
    This is version 106 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3