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Protein

WD repeat-containing protein 19

Gene

WDR19

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 (PubMed:20889716). Involved in cilia function and/or assembly (By similarity). Associates with the BBSome complex to mediate ciliary transport (By similarity).HMP:1 Publication

GO - Biological processi

Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-HSA-5610787. Hedgehog 'off' state.
R-HSA-5620924. Intraflagellar transport.

Names & Taxonomyi

Protein namesi
Recommended name:
WD repeat-containing protein 19
Alternative name(s):
Intraflagellar transport 144 homolog
Gene namesi
Name:WDR19
Synonyms:IFT144IBD:, KIAA1638
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000157796.17.
HGNCiHGNC:18340. WDR19.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Cranioectodermal dysplasia 4 (CED4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614378
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067314710L → S in CED4 and SLSN8. 2 PublicationsCorresponds to variant dbSNP:rs387906980Ensembl.1
Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614376
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0673127L → P in SRTD5. 1 PublicationCorresponds to variant dbSNP:rs387906982Ensembl.1
Nephronophthisis 13 (NPHP13)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:614377
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067313345V → G in NPHP13. 1 PublicationCorresponds to variant dbSNP:rs387906983Ensembl.1
Senior-Loken syndrome 8 (SLSN8)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.
See also OMIM:616307
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07367330A → P in SLSN8. 1 PublicationCorresponds to variant dbSNP:rs776967770Ensembl.1
Natural variantiVAR_07367468V → D in SLSN8. 1 PublicationCorresponds to variant dbSNP:rs786204852Ensembl.1
Natural variantiVAR_073675109G → E in SLSN8. 1 PublicationCorresponds to variant dbSNP:rs766029437Ensembl.1
Natural variantiVAR_073676272R → C in SLSN8. 1 PublicationCorresponds to variant dbSNP:rs199812132Ensembl.1
Natural variantiVAR_073677493D → H in SLSN8. 2 PublicationsCorresponds to variant dbSNP:rs587777349Ensembl.1
Natural variantiVAR_067314710L → S in CED4 and SLSN8. 2 PublicationsCorresponds to variant dbSNP:rs387906980Ensembl.1
Natural variantiVAR_0736781178R → Q in SLSN8. 1 PublicationCorresponds to variant dbSNP:rs79436363Ensembl.1
Natural variantiVAR_0736791235E → K in SLSN8. 1 PublicationCorresponds to variant dbSNP:rs587777351Ensembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Ectodermal dysplasia, Leber congenital amaurosis, Nephronophthisis, Senior-Loken syndrome

Organism-specific databases

DisGeNETi57728.
GeneReviewsiWDR19.
MalaCardsiWDR19.
MIMi614376. phenotype.
614377. phenotype.
614378. phenotype.
616307. phenotype.
OpenTargetsiENSG00000157796.
Orphaneti1515. Cranioectodermal dysplasia.
474. Jeune syndrome.
93592. Juvenile nephronophthisis.
PharmGKBiPA38317.

Polymorphism and mutation databases

BioMutaiWDR19.
DMDMi94730676.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002331561 – 1342WD repeat-containing protein 19Add BLAST1342

Proteomic databases

EPDiQ8NEZ3.
MaxQBiQ8NEZ3.
PaxDbiQ8NEZ3.
PeptideAtlasiQ8NEZ3.
PRIDEiQ8NEZ3.

PTM databases

iPTMnetiQ8NEZ3.
PhosphoSitePlusiQ8NEZ3.

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

BgeeiENSG00000157796.
CleanExiHS_WDR19.
ExpressionAtlasiQ8NEZ3. baseline and differential.
GenevisibleiQ8NEZ3. HS.

Organism-specific databases

HPAiHPA039616.
HPA058847.

Interactioni

Subunit structurei

Component of the IFT complex A (IFT-A) (PubMed:20889716). Interacts with BBS1 (By similarity). Interacts with TTC25 (PubMed:25860617).HMP:2 Publications

Protein-protein interaction databases

BioGridi121748. 22 interactors.
CORUMiQ8NEZ3.
IntActiQ8NEZ3. 12 interactors.
STRINGi9606.ENSP00000382717.

Structurei

3D structure databases

ProteinModelPortaliQ8NEZ3.
SMRiQ8NEZ3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati11 – 51WD 1Add BLAST41
Repeati52 – 92WD 2Add BLAST41
Repeati95 – 134WD 3Add BLAST40
Repeati137 – 175WD 4Add BLAST39
Repeati273 – 311WD 5Add BLAST39
Repeati317 – 356WD 6Add BLAST40
Repeati736 – 769TPR 1Add BLAST34
Repeati775 – 808TPR 2Add BLAST34
Repeati840 – 873TPR 3Add BLAST34
Repeati895 – 928TPR 4Add BLAST34
Repeati951 – 984TPR 5Add BLAST34
Repeati1020 – 1053TPR 6Add BLAST34

Keywords - Domaini

Repeat, TPR repeat, WD repeat

Phylogenomic databases

eggNOGiKOG2247. Eukaryota.
ENOG410XR20. LUCA.
GeneTreeiENSGT00590000083165.
HOGENOMiHOG000230828.
HOVERGENiHBG094157.
InParanoidiQ8NEZ3.
KOiK19671.
OMAiCLHSDYA.
OrthoDBiEOG091G0UG9.
PhylomeDBiQ8NEZ3.
TreeFamiTF314758.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
2.130.10.10. 3 hits.
InterProiView protein in InterPro
IPR011990. TPR-like_helical_dom_sf.
IPR015943. WD40/YVTN_repeat-like_dom_sf.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
SMARTiView protein in SMART
SM00320. WD40. 5 hits.
SUPFAMiSSF48452. SSF48452. 1 hit.
PROSITEiView protein in PROSITE
PS50294. WD_REPEATS_REGION. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MKRIFSLLEK TWLGAPIQFA WQKTSGNYLA VTGADYIVKI FDRHGQKRSE
60 70 80 90 100
INLPGNCVAM DWDKDGDVLA VIAEKSSCIY LWDANTNKTS QLDNGMRDQM
110 120 130 140 150
SFLLWSKVGS FLAVGTVKGN LLIYNHQTSR KIPVLGKHTK RITCGCWNAE
160 170 180 190 200
NLLALGGEDK MITVSNQEGD TIRQTQVRSE PSNMQFFLMK MDDRTSAAES
210 220 230 240 250
MISVVLGKKT LFFLNLNEPD NPADLEFQQD FGNIVCYNWY GDGRIMIGFS
260 270 280 290 300
CGHFVVISTH TGELGQEIFQ ARNHKDNLTS IAVSQTLNKV ATCGDNCIKI
310 320 330 340 350
QDLVDLKDMY VILNLDEENK GLGTLSWTDD GQLLALSTQR GSLHVFLTKL
360 370 380 390 400
PILGDACSTR IAYLTSLLEV TVANPVEGEL PITVSVDVEP NFVAVGLYHL
410 420 430 440 450
AVGMNNRAWF YVLGENAVKK LKDMEYLGTV ASICLHSDYA AALFEGKVQL
460 470 480 490 500
HLIESEILDA QEERETRLFP AVDDKCRILC HALTSDFLIY GTDTGVVQYF
510 520 530 540 550
YIEDWQFVND YRHPVSVKKI FPDPNGTRLV FIDEKSDGFV YCPVNDATYE
560 570 580 590 600
IPDFSPTIKG VLWENWPMDK GVFIAYDDDK VYTYVFHKDT IQGAKVILAG
610 620 630 640 650
STKVPFAHKP LLLYNGELTC QTQSGKVNNI YLSTHGFLSN LKDTGPDELR
660 670 680 690 700
PMLAQNLMLK RFSDAWEMCR ILNDEAAWNE LARACLHHME VEFAIRVYRR
710 720 730 740 750
IGNVGIVMSL EQIKGIEDYN LLAGHLAMFT NDYNLAQDLY LASSCPIAAL
760 770 780 790 800
EMRRDLQHWD SALQLAKHLA PDQIPFISKE YAIQLEFAGD YVNALAHYEK
810 820 830 840 850
GITGDNKEHD EACLAGVAQM SIRMGDIRRG VNQALKHPSR VLKRDCGAIL
860 870 880 890 900
ENMKQFSEAA QLYEKGLYYD KAASVYIRSK NWAKVGDLLP HVSSPKIHLQ
910 920 930 940 950
YAKAKEADGR YKEAVVAYEN AKQWQSVIRI YLDHLNNPEK AVNIVRETQS
960 970 980 990 1000
LDGAKMVARF FLQLGDYGSA IQFLVMSKCN NEAFTLAQQH NKMEIYADII
1010 1020 1030 1040 1050
GSEDTTNEDY QSIALYFEGE KRYLQAGKFF LLCGQYSRAL KHFLKCPSSE
1060 1070 1080 1090 1100
DNVAIEMAIE TVGQAKDELL TNQLIDHLLG ENDGMPKDAK YLFRLYMALK
1110 1120 1130 1140 1150
QYREAAQTAI IIAREEQSAG NYRNAHDVLF SMYAELKSQK IKIPSEMATN
1160 1170 1180 1190 1200
LMILHSYILV KIHVKNGDHM KGARMLIRVA NNISKFPSHI VPILTSTVIE
1210 1220 1230 1240 1250
CHRAGLKNSA FSFAAMLMRP EYRSKIDAKY KKKIEGMVRR PDISEIEEAT
1260 1270 1280 1290 1300
TPCPFCKFLL PECELLCPGC KNSIPYCIAT GRHMLKDDWT VCPHCDFPAL
1310 1320 1330 1340
YSELKIMLNT ESTCPMCSER LNAAQLKKIS DCTQYLRTEE EL
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 differs from that shown. Reason: Frameshift at position 421.IKR:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti22Q → K in AAK38745 (PubMed:12906858).IKR:1
Sequence conflicti122L → V in BAB15550 (PubMed:14702039).IKR:1
Sequence conflicti153L → P in BAB15550 (PubMed:14702039).IKR:1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0673127L → P in SRTD5. 1 PublicationCorresponds to variant dbSNP:rs387906982Ensembl.1
Natural variantiVAR_07367330A → P in SLSN8. 1 PublicationCorresponds to variant dbSNP:rs776967770Ensembl.1
Natural variantiVAR_07367468V → D in SLSN8. 1 PublicationCorresponds to variant dbSNP:rs786204852Ensembl.1
Natural variantiVAR_073675109G → E in SLSN8. 1 PublicationCorresponds to variant dbSNP:rs766029437Ensembl.1
Natural variantiVAR_073676272R → C in SLSN8. 1 PublicationCorresponds to variant dbSNP:rs199812132Ensembl.1
Natural variantiVAR_067313345V → G in NPHP13. 1 PublicationCorresponds to variant dbSNP:rs387906983Ensembl.1
Natural variantiVAR_073677493D → H in SLSN8. 2 PublicationsCorresponds to variant dbSNP:rs587777349Ensembl.1
Natural variantiVAR_067314710L → S in CED4 and SLSN8. 2 PublicationsCorresponds to variant dbSNP:rs387906980Ensembl.1
Natural variantiVAR_0534241084G → S. Corresponds to variant dbSNP:rs16995209Ensembl.1
Natural variantiVAR_0736781178R → Q in SLSN8. 1 PublicationCorresponds to variant dbSNP:rs79436363Ensembl.1
Natural variantiVAR_0736791235E → K in SLSN8. 1 PublicationCorresponds to variant dbSNP:rs587777351Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_018073453 – 474IESEI…PAVDD → KAKSWMLTKNVRLGFSQQWM ISAVSYAMP in isoform 2. IBD:Add BLAST22
Alternative sequenceiVSP_018074475 – 1342Missing in isoform 2. IBD:Add BLAST868

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001304853.1. NM_001317924.1.
NP_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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiWDR19_HUMAN
AccessioniPrimary (citable) accession number: Q8NEZ3
Secondary accession number(s): B5MEF2
, Q8N5B4, Q9H5S0, Q9HCD4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: May 2, 2006
Last modified: November 22, 2017
This is version 136 of the entry and version 2 of the sequence. See 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