• Gene id: 57728

Gene Summary

• Gene Symbol: WDR19   Gene   UCSC   Ensembl
• Aliases: ATD5, CED4, DYF-2, FAP66, IFT144, NPHP13, ORF26, Oseg6, PWDMP, SRTD5
• Gene name: WD repeat domain 19
• Alternate names: WD repeat-containing protein 19, WD repeat membrane protein PWDMP, intraflagellar transport 144 homolog,
• Gene location: 4p14 (39182472: 39285809)     Exons: 38     NC_000004.12
• Gene summary(Entrez): 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 4
• OMIM: 608151

Protein Summary

• Protein general information: Q8NEZ3  
  • Name: WD repeat containing protein 19 (Intraflagellar transport 144 homolog)
  • Length: 1342  
  • Mass: 151581
  • Tissue specificity: 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
• Sequence:

  MKRIFSLLEKTWLGAPIQFAWQKTSGNYLAVTGADYIVKIFDRHGQKRSEINLPGNCVAMDWDKDGDVLAVIAEK
  SSCIYLWDANTNKTSQLDNGMRDQMSFLLWSKVGSFLAVGTVKGNLLIYNHQTSRKIPVLGKHTKRITCGCWNAE
  NLLALGGEDKMITVSNQEGDTIRQTQVRSEPSNMQFFLMKMDDRTSAAESMISVVLGKKTLFFLNLNEPDNPADL
  EFQQDFGNIVCYNWYGDGRIMIGFSCGHFVVISTHTGELGQEIFQARNHKDNLTSIAVSQTLNKVATCGDNCIKI
  QDLVDLKDMYVILNLDEENKGLGTLSWTDDGQLLALSTQRGSLHVFLTKLPILGDACSTRIAYLTSLLEVTVANP
  VEGELPITVSVDVEPNFVAVGLYHLAVGMNNRAWFYVLGENAVKKLKDMEYLGTVASICLHSDYAAALFEGKVQL
  HLIESEILDAQEERETRLFPAVDDKCRILCHALTSDFLIYGTDTGVVQYFYIEDWQFVNDYRHPVSVKKIFPDPN
  GTRLVFIDEKSDGFVYCPVNDATYEIPDFSPTIKGVLWENWPMDKGVFIAYDDDKVYTYVFHKDTIQGAKVILAG
  STKVPFAHKPLLLYNGELTCQTQSGKVNNIYLSTHGFLSNLKDTGPDELRPMLAQNLMLKRFSDAWEMCRILNDE
  AAWNELARACLHHMEVEFAIRVYRRIGNVGIVMSLEQIKGIEDYNLLAGHLAMFTNDYNLAQDLYLASSCPIAAL
  EMRRDLQHWDSALQLAKHLAPDQIPFISKEYAIQLEFAGDYVNALAHYEKGITGDNKEHDEACLAGVAQMSIRMG
  DIRRGVNQALKHPSRVLKRDCGAILENMKQFSEAAQLYEKGLYYDKAASVYIRSKNWAKVGDLLPHVSSPKIHLQ
  YAKAKEADGRYKEAVVAYENAKQWQSVIRIYLDHLNNPEKAVNIVRETQSLDGAKMVARFFLQLGDYGSAIQFLV
  MSKCNNEAFTLAQQHNKMEIYADIIGSEDTTNEDYQSIALYFEGEKRYLQAGKFFLLCGQYSRALKHFLKCPSSE
  DNVAIEMAIETVGQAKDELLTNQLIDHLLGENDGMPKDAKYLFRLYMALKQYREAAQTAIIIAREEQSAGNYRNA
  HDVLFSMYAELKSQKIKIPSEMATNLMILHSYILVKIHVKNGDHMKGARMLIRVANNISKFPSHIVPILTSTVIE
  CHRAGLKNSAFSFAAMLMRPEYRSKIDAKYKKKIEGMVRRPDISEIEEATTPCPFCKFLLPECELLCPGCKNSIP
  YCIATGRHMLKDDWTVCPHCDFPALYSELKIMLNTESTCPMCSERLNAAQLKKISDCTQYLRTEEEL

• Structural information:
  • Interpro: IPR011990  IPR015943  IPR001680  IPR017986  IPR040379   IPR039468  
  • Prosite: PS50294
  • STRING: ENSP00000382717
• Other Databases: GeneCards:  WDR19  Malacards:  WDR19

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030991	intraciliary transport particle A	IBA	cellular component
GO:0060271	cilium assembly	IBA	biological process
GO:0005929	cilium	IBA	cellular component
GO:0035721	intraciliary retrograde transport	IBA	biological process
GO:0030991	intraciliary transport particle A	IDA	cellular component
GO:0030991	intraciliary transport particle A	IDA	cellular component
GO:0097730	non-motile cilium	ISS	cellular component
GO:0032391	photoreceptor connecting cilium	ISS	cellular component
GO:0031514	motile cilium	ISS	cellular component
GO:1903441	protein localization to ciliary membrane	IMP	biological process
GO:0065003	protein-containing complex assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0035721	intraciliary retrograde transport	IEA	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0035721	intraciliary retrograde transport	IMP	biological process
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0035735	intraciliary transport involved in cilium assembly	TAS	biological process
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097730	non-motile cilium	IEA	cellular component
GO:0061055	myotome development	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0050877	nervous system process	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0042471	ear morphogenesis	IEA	biological process
GO:0030991	intraciliary transport particle A	IEA	cellular component
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0008406	gonad development	IEA	biological process
GO:0000902	cell morphogenesis	IEA	biological process
GO:0060831	smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA	biological process
GO:0060830	ciliary receptor clustering involved in smoothened signaling pathway	IEA	biological process
GO:0055123	digestive system development	IEA	biological process
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0031076	embryonic camera-type eye development	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0005929	cilium	IEA	cellular component

Diseases

Associated diseases	References
Nephronophthisis	KEGG:H00537
Short-rib thoracic dysplasia	KEGG:H02157
Senior-Loken syndrome	KEGG:H00538
Cranioectodermal dysplasia	KEGG:H00529
Asphyxiating thoracic dystrophy	KEGG:H00751
Nephronophthisis	KEGG:H00537
Short-rib thoracic dysplasia	KEGG:H02157
Senior-Loken syndrome	KEGG:H00538
Cranioectodermal dysplasia	KEGG:H00529
Asphyxiating thoracic dystrophy	KEGG:H00751
Senior-Loken syndrome	PMID:23683095
Caroli disease	PMID:25726036
Nephronophthisis	PMID:22019273
Nephronophthisis	PMID:26260382
Retinitis pigmentosa	PMID:23683095
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray