Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 151 (16 Oct 2019)
Sequence version 2 (02 May 2006)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

WD repeat-containing protein 19

Gene

WDR19

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

As component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in cilia function and/or assembly (PubMed:20889716). Essential for functional IFT-A assembly and ciliary entry of GPCRs (PubMed:20889716). Associates with the BBSome complex to mediate ciliary transport (By similarity).By similarity1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
WD repeat-containing protein 19Curated
Alternative name(s):
Intraflagellar transport 144 homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:WDR19Imported
Synonyms:IFT1442 Publications, KIAA1638
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18340 WDR19

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608151 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NEZ3

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_067314710L → S in CED4 and SLSN8. 2 PublicationsCorresponds to variant dbSNP:rs387906980EnsemblClinVar.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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0673127L → P in SRTD5. 1 PublicationCorresponds to variant dbSNP:rs387906982EnsemblClinVar.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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067313345V → G in NPHP13. 1 PublicationCorresponds to variant dbSNP:rs387906983EnsemblClinVar.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.
Related information in OMIM
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:rs786204852EnsemblClinVar.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:rs587777349EnsemblClinVar.1
Natural variantiVAR_067314710L → S in CED4 and SLSN8. 2 PublicationsCorresponds to variant dbSNP:rs387906980EnsemblClinVar.1
Natural variantiVAR_0736781178R → Q in SLSN8. 1 PublicationCorresponds to variant dbSNP:rs79436363EnsemblClinVar.1
Natural variantiVAR_0736791235E → K in SLSN8. 1 PublicationCorresponds to variant dbSNP:rs587777351EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
57728

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
WDR19

MalaCards human disease database

More...
MalaCardsi
WDR19
MIMi614376 phenotype
614377 phenotype
614378 phenotype
616307 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000157796

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1515 Cranioectodermal dysplasia
474 Jeune syndrome
93592 Juvenile nephronophthisis
3156 Senior-Loken syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38317

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NEZ3

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
WDR19

Domain mapping of disease mutations (DMDM)

More...
DMDMi
94730676

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002331561 – 1342WD repeat-containing protein 19Add BLAST1342

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8NEZ3

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8NEZ3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8NEZ3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8NEZ3

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8NEZ3

PeptideAtlas

More...
PeptideAtlasi
Q8NEZ3

PRoteomics IDEntifications database

More...
PRIDEi
Q8NEZ3

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
73250 [Q8NEZ3-1]
73251 [Q8NEZ3-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NEZ3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8NEZ3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in fetal lung.

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000157796 Expressed in 213 organ(s), highest expression level in left lobe of thyroid gland

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NEZ3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NEZ3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039616
HPA058847

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the IFT complex A (IFT-A) complex (PubMed:20889716, PubMed:27932497). IFT-A complex is divided into a core subcomplex composed of IFT122:IFT140:WDR19 which is associated with TULP3 and a peripheral subcomplex composed of IFT43:WDR35:TTC21B (PubMed:27932497, PubMed:29220510).

Interacts (via C-terminal region) with IFT122 (via C-terminal region) (PubMed:29220510).

Interacts with BBS1 (By similarity).

Interacts with TTC25 (PubMed:25860617).

By similarity4 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
121748, 23 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q8NEZ3

Protein interaction database and analysis system

More...
IntActi
Q8NEZ3, 21 interactors

Molecular INTeraction database

More...
MINTi
Q8NEZ3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000382717

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2247 Eukaryota
ENOG410XR20 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00590000083165

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000230828

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NEZ3

KEGG Orthology (KO)

More...
KOi
K19671

Identification of Orthologs from Complete Genome Data

More...
OMAi
YTLVRIH

Database of Orthologous Groups

More...
OrthoDBi
215211at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NEZ3

TreeFam database of animal gene trees

More...
TreeFami
TF314758

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.40.10, 1 hit
2.130.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011990 TPR-like_helical_dom_sf
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR040379 WDR19/dyf-2
IPR039468 WDR19_WD40_rpt

The PANTHER Classification System

More...
PANTHERi
PTHR14920 PTHR14920, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15911 WD40_3, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00320 WD40, 5 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48452 SSF48452, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50294 WD_REPEATS_REGION, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6R9P6D6R9P6_HUMAN
WD repeat domain 19, isoform CRA_a
WDR19 hCG_38548
481Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RE75D6RE75_HUMAN
WD repeat-containing protein 19
WDR19
142Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RBA0D6RBA0_HUMAN
WD repeat-containing protein 19
WDR19
100Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RCF7D6RCF7_HUMAN
WD repeat-containing protein 19
WDR19
99Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RIE4D6RIE4_HUMAN
WD repeat-containing protein 19
WDR19
78Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y8K9H0Y8K9_HUMAN
WD repeat-containing protein 19
WDR19
135Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RAI4D6RAI4_HUMAN
WD repeat-containing protein 19
WDR19
42Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH32578 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti22Q → K in AAK38745 (PubMed:12906858).Curated1
Sequence conflicti122L → V in BAB15550 (PubMed:14702039).Curated1
Sequence conflicti153L → P in BAB15550 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0673127L → P in SRTD5. 1 PublicationCorresponds to variant dbSNP:rs387906982EnsemblClinVar.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:rs786204852EnsemblClinVar.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:rs387906983EnsemblClinVar.1
Natural variantiVAR_073677493D → H in SLSN8. 2 PublicationsCorresponds to variant dbSNP:rs587777349EnsemblClinVar.1
Natural variantiVAR_067314710L → S in CED4 and SLSN8. 2 PublicationsCorresponds to variant dbSNP:rs387906980EnsemblClinVar.1
Natural variantiVAR_0534241084G → S. Corresponds to variant dbSNP:rs16995209EnsemblClinVar.1
Natural variantiVAR_0736781178R → Q in SLSN8. 1 PublicationCorresponds to variant dbSNP:rs79436363EnsemblClinVar.1
Natural variantiVAR_0736791235E → K in SLSN8. 1 PublicationCorresponds to variant dbSNP:rs587777351EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_018073453 – 474IESEI…PAVDD → KAKSWMLTKNVRLGFSQQWM ISAVSYAMP in isoform 2. 2 PublicationsAdd BLAST22
Alternative sequenceiVSP_018074475 – 1342Missing in isoform 2. 2 PublicationsAdd BLAST868

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47042.1 [Q8NEZ3-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001304853.1, NM_001317924.1
NP_079408.3, NM_025132.3 [Q8NEZ3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000399820; ENSP00000382717; ENSG00000157796 [Q8NEZ3-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
57728

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:57728

UCSC genome browser

More...
UCSCi
uc003gtv.3 human [Q8NEZ3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi121748, 23 interactors
CORUMiQ8NEZ3
IntActiQ8NEZ3, 21 interactors
MINTiQ8NEZ3
STRINGi9606.ENSP00000382717

PTM databases

iPTMnetiQ8NEZ3
PhosphoSitePlusiQ8NEZ3

Polymorphism and mutation databases

BioMutaiWDR19
DMDMi94730676

Proteomic databases

EPDiQ8NEZ3
jPOSTiQ8NEZ3
MassIVEiQ8NEZ3
MaxQBiQ8NEZ3
PaxDbiQ8NEZ3
PeptideAtlasiQ8NEZ3
PRIDEiQ8NEZ3
ProteomicsDBi73250 [Q8NEZ3-1]
73251 [Q8NEZ3-2]

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57728
DisGeNETi57728

GeneCards: human genes, protein and diseases

More...
GeneCardsi
WDR19
GeneReviewsiWDR19
HGNCiHGNC:18340 WDR19
HPAiHPA039616
HPA058847
MalaCardsiWDR19
MIMi608151 gene
614376 phenotype
614377 phenotype
614378 phenotype
616307 phenotype
neXtProtiNX_Q8NEZ3
OpenTargetsiENSG00000157796
Orphaneti1515 Cranioectodermal dysplasia
474 Jeune syndrome
93592 Juvenile nephronophthisis
3156 Senior-Loken syndrome
PharmGKBiPA38317

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2247 Eukaryota
ENOG410XR20 LUCA
GeneTreeiENSGT00590000083165
HOGENOMiHOG000230828
InParanoidiQ8NEZ3
KOiK19671
OMAiYTLVRIH
OrthoDBi215211at2759
PhylomeDBiQ8NEZ3
TreeFamiTF314758

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
WDR19 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
57728
PharosiQ8NEZ3

Protein Ontology

More...
PROi
PR:Q8NEZ3

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000157796 Expressed in 213 organ(s), highest expression level in left lobe of thyroid gland
ExpressionAtlasiQ8NEZ3 baseline and differential
GenevisibleiQ8NEZ3 HS

Family and domain databases

Gene3Di1.25.40.10, 1 hit
2.130.10.10, 2 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
IPR040379 WDR19/dyf-2
IPR039468 WDR19_WD40_rpt
PANTHERiPTHR14920 PTHR14920, 1 hit
PfamiView protein in Pfam
PF15911 WD40_3, 1 hit
SMARTiView protein in SMART
SM00320 WD40, 5 hits
SUPFAMiSSF48452 SSF48452, 1 hit
PROSITEiView protein in PROSITE
PS50294 WD_REPEATS_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiWDR19_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NEZ3
Secondary accession number(s): B5MEF2
, Q8N5B4, Q9H5S0, Q9HCD4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: May 2, 2006
Last modified: October 16, 2019
This is version 151 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again