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Q8NEZ3

- WDR19_HUMAN

UniProt

Q8NEZ3 - WDR19_HUMAN

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Protein

WD repeat-containing protein 19

Gene
WDR19, KIAA1638
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.

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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.

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.
Contains 6 WD repeats.

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.

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. VSP_018073Add
BLAST
Alternative sequencei475 – 1342868Missing in isoform 2. VSP_018074Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti22 – 221Q → K in AAK38745. 1 Publication
Sequence conflicti122 – 1221L → V in BAB15550. 1 Publication
Sequence conflicti153 – 1531L → P in BAB15550. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 105 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

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