Seroatlas · Human Serome Atlas

WDR19

WD repeat-containing protein 19

Also known as: DYF-2, FAP66, FLJ23127, IFT144, KIAA1638, NPHP13, ORF26, Oseg6, Pwdmp, WDR19_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8NEZ3
Gene: WDR19
Ensembl: ENSG00000157796
Chromosome: 4
Canonical length: 1342 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Centrosome,Basal body,Cytosol,Mid piece,Principal piece

OverviewNCBI Gene

The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Canonical amino-acid sequenceUniProt

1342 residues, UniProt reviewed canonical sequence.

>Q8NEZ3|WDR19
     1  MKRIFSLLEK TWLGAPIQFA WQKTSGNYLA VTGADYIVKI FDRHGQKRSE INLPGNCVAM
    61  DWDKDGDVLA VIAEKSSCIY LWDANTNKTS QLDNGMRDQM SFLLWSKVGS FLAVGTVKGN
   121  LLIYNHQTSR KIPVLGKHTK RITCGCWNAE NLLALGGEDK MITVSNQEGD TIRQTQVRSE
   181  PSNMQFFLMK MDDRTSAAES MISVVLGKKT LFFLNLNEPD NPADLEFQQD FGNIVCYNWY
   241  GDGRIMIGFS CGHFVVISTH TGELGQEIFQ ARNHKDNLTS IAVSQTLNKV ATCGDNCIKI
   301  QDLVDLKDMY VILNLDEENK GLGTLSWTDD GQLLALSTQR GSLHVFLTKL PILGDACSTR
   361  IAYLTSLLEV TVANPVEGEL PITVSVDVEP NFVAVGLYHL AVGMNNRAWF YVLGENAVKK
   421  LKDMEYLGTV ASICLHSDYA AALFEGKVQL HLIESEILDA QEERETRLFP AVDDKCRILC
   481  HALTSDFLIY GTDTGVVQYF YIEDWQFVND YRHPVSVKKI FPDPNGTRLV FIDEKSDGFV
   541  YCPVNDATYE IPDFSPTIKG VLWENWPMDK GVFIAYDDDK VYTYVFHKDT IQGAKVILAG
   601  STKVPFAHKP LLLYNGELTC QTQSGKVNNI YLSTHGFLSN LKDTGPDELR PMLAQNLMLK
   661  RFSDAWEMCR ILNDEAAWNE LARACLHHME VEFAIRVYRR IGNVGIVMSL EQIKGIEDYN
   721  LLAGHLAMFT NDYNLAQDLY LASSCPIAAL EMRRDLQHWD SALQLAKHLA PDQIPFISKE
   781  YAIQLEFAGD YVNALAHYEK GITGDNKEHD EACLAGVAQM SIRMGDIRRG VNQALKHPSR
   841  VLKRDCGAIL ENMKQFSEAA QLYEKGLYYD KAASVYIRSK NWAKVGDLLP HVSSPKIHLQ
   901  YAKAKEADGR YKEAVVAYEN AKQWQSVIRI YLDHLNNPEK AVNIVRETQS LDGAKMVARF
   961  FLQLGDYGSA IQFLVMSKCN NEAFTLAQQH NKMEIYADII GSEDTTNEDY QSIALYFEGE
  1021  KRYLQAGKFF LLCGQYSRAL KHFLKCPSSE DNVAIEMAIE TVGQAKDELL TNQLIDHLLG
  1081  ENDGMPKDAK YLFRLYMALK QYREAAQTAI IIAREEQSAG NYRNAHDVLF SMYAELKSQK
  1141  IKIPSEMATN LMILHSYILV KIHVKNGDHM KGARMLIRVA NNISKFPSHI VPILTSTVIE
  1201  CHRAGLKNSA FSFAAMLMRP EYRSKIDAKY KKKIEGMVRR PDISEIEEAT TPCPFCKFLL
  1261  PECELLCPGC KNSIPYCIAT GRHMLKDDWT VCPHCDFPAL YSELKIMLNT ESTCPMCSER
  1321  LNAAQLKKIS DCTQYLRTEE EL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against WDR19 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.25
Highest tissue expression: 19 nTPM

Expression across tissuesHPA

Tissue

fallopian tube: 19 nTPM
thyroid gland: 16 nTPM
endometrium: 15 nTPM
ovary: 14 nTPM
testis: 13 nTPM
epididymis: 13 nTPM

Single-cell type

thyrotrophs: 216 nCPM
ependymal cells: 213 nCPM
respiratory ciliated cells: 210 nCPM
somatotrophs: 184 nCPM
choroid plexus epithelial cells: 127 nCPM
lactotrophs: 123 nCPM

Immune cell

naive B-cell: 1.2 nTPM
memory B-cell: 0.8 nTPM
NK-cell: 0.8 nTPM
memory CD8 T-cell: 0.6 nTPM
naive CD8 T-cell: 0.6 nTPM
intermediate monocyte: 0.5 nTPM

Brain region

choroid plexus: 30 nTPM
medulla oblongata: 19 nTPM
cerebellum: 17 nTPM
midbrain: 15 nTPM
spinal cord: 14 nTPM
cerebral cortex: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about WDR19.

Disease | AllUniProt

Conditions WDR19 is implicated in, by any mechanism.

Cranioectodermal dysplasia 4 (CED4) MIM:614378
Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5) MIM:614376
Nephronophthisis 13 (NPHP13) MIM:614377
Senior-Loken syndrome 8 (SLSN8) MIM:616307
Spermatogenic failure 72 (SPGF72) MIM:619867

Disease | GeneticClinVar

144 pathogenic / likely-pathogenic of 1,352 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Spermatogenic failure 72

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.56
gnomAD pLI: 0
gnomAD missense Z: 1.5
DepMap mean gene effect: 0
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

WD40 repeat
Tetratricopeptide-like helical domain superfamily
WD40/YVTN repeat-like-containing domain superfamily
IF140/IFT172/WDR19, TPR domain
IFT121-like, zinc finger domain
IFT121, second zinc finger domain
IF140/IFT172 TPR domain
WDR19, WD40 repeat domain
WD repeat-containing protein 19/dyf-2
WDR19, first beta-propeller
WDR19 second beta-propeller
IFT144, first zinc finger domain
WDR19 first beta-propeller

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of WDR19 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads WDR19 as an antibody target. Whether an autoantibody or antibody against WDR19 could matter depends on whether native WDR19 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

WDR19 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label WDR19 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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