Gene: Wdr19

Basic information

Tag Content
Uniprot ID Q3UGF1; Q6ZPK8; Q80VQ6; Q8C794; Q8K3R5;
Entrez ID 213081
Genbank protein ID BAE28258.1; AAH46432.1; BAC98223.2; AAK38746.1; BAC34929.1;
Genbank nucleotide ID XM_011240713.1; NM_153391.2;
Ensembl protein ID ENSMUSP00000038098; ENSMUSP00000144866;
Ensembl nucleotide ID ENSMUSG00000037890
Gene name WD repeat-containing protein 19
Gene symbol Wdr19
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO,CLP
Developmental stage
Data sources Manually collected
Reference 22228095
Functional description 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 (Probable). Essential for functional IFT-A assembly and ciliary entry of GPCRs (By similarity). Associates with the BBSome complex to mediate ciliary transport (PubMed:22922713).
Sequence
MKRVFSLLEK SWLGAPIQFA WQKSSGNYLA VTGADYIVKI FDRHGQKRSE ISLPGNCVTM 60
DWDKDGDILA VIAEKSSCIY LWDANTNKTS QLDNGMRDQM SFLLWSKIGS FLAVGTIKGN 120
LLIYNHQTSR KIPVLGKHTK KITCGCWNSE NLLALGGEDK MITVSNQEGD TIRQTPVKSE 180
PSDIKFSMSK TDERISSAEN TISAVVGKKM LFLFHLNEPD NPVDLEFQQA YGNIVCYSWY 240
GDGYIMIGFS RGTFLAISTH FPEVGQEIFK ARDHKDNLTS VALSQTLNKA ATCGDNCIKI 300
HDLTELRDMY AIINLDDENK GLGTLSWTDD GQLLALSTQR GSLHVFLTKL PILGDACHTR 360
IAYLTSLLEV TVANLIEGEP PITVSVDVEP TFVAVGLYHL AVGMNNRAWF YVLGENVVKK 420
LKDVEYLGTV ASICLHSDYA AALFEGKIQL HLIENEMLDA QEERETRLFP AVDDKCRILC 480
HALTSDFLIY GTDTGIIHYF FIEDWQFVND YRHPVGVKKL FPDPNGTRLV FIDEKSDGFV 540
YCPVNDATYE IPDFSPTIKG VLWENWPMDK GVFIAYDDDK VYTYAFHKDT IQGSKVILAG 600
STKLPFSHKP LLLYNGELTC QTQSGKINSI YLSTHSFLGS MKDTEPTDLR QMLTQTLLLK 660
RFSDAWDICK MLNDRTSWSE LAKACLHHME VEFAIRVSRT MGDVGTVMSL EQIKGIEDYN 720
LLAGHLAMFT NDFNLAQDLY LASNCPVAAL EMRRDLQHWD SALQLAKRLA PDQIPFISKE 780
YAIQLEFTGD YVNALAHYEK GITGDNKEHD EVCLAGVAQM SIRMGDIRRG ANQALKHPSR 840
VLKRDCGAIL ENMKQFSEAA QLYEKGQYYD RAASVYIRCK NWAKVGELLP HVSSPKIHLQ 900
YAKAKEADGR YKEAVVAYEN AKQWNSVIRI YLDHLNNPEK AVSIVRETQS LDGAKMVARF 960
FLQLGDYGSA IQFLVLSKCN NEAFTLAQQH NKMEIYADII GAEDTTNEDY QSIALYFEGE 1020
KRHFQAGKFF LLCGQYSRAL KHFLKCPSSE DNVAIEMAIE TVGQAKDELL TNQLIDHLMG 1080
ESDGMPKDAK YLFRLYMALK QYREAARTAI IIAREEQSAG NYRNAHDVLF SMYAELKAQK 1140
IKIPSEMATN LMILHSYILV KIHVKSGDHM KGARMLIRVA NNISKFPSHI VPILTSTVIE 1200
CHRAGLKNSA FSFAAMLMRP EYRNKIDAKY KKKIEAMVRR PDTSETEEAT TPCPFCQFLL 1260
PECELLCPGC KNNIPYCIAT GRHMLKDDWT MCPHCGFPAL YSEFKILLNS ESTCPMCSER 1320
LNSSQLKKIT DCSQYLRTEM E 1341

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologWDR19A0A452EI70Capra hircusPredictionMore>>
1:1 orthologWDR1957728Q8NEZ3Homo sapiensPredictionMore>>
1:1 orthologWdr19213081Q3UGF1CPO,CLPMus musculusPublicationMore>>
1:1 orthologWDR19461172H2QPC5Pan troglodytesPredictionMore>>
1:1 orthologWDR19I3LLZ8Sus scrofaPredictionMore>>
1:1 orthologWDR19100352314G1SME2Oryctolagus cuniculusPredictionMore>>
1:1 orthologWdr19305349F1LV01Rattus norvegicusPredictionMore>>
1:1 orthologwdr19E7FGG5Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003674 molecular_functionND

GO:Biological Process

GO ID GO Term Evidence
GO:0000902 cell morphogenesisIMP
GO:0001701 in utero embryonic developmentIMP
GO:0007224 smoothened signaling pathwayIMP
GO:0008406 gonad developmentIMP
GO:0030326 embryonic limb morphogenesisIMP
GO:0031076 embryonic camera-type eye developmentIMP
GO:0035721 intraciliary retrograde transportIBA
GO:0035721 intraciliary retrograde transportISO
GO:0042471 ear morphogenesisIMP
GO:0048701 embryonic cranial skeleton morphogenesisIMP
GO:0050877 nervous system processIMP
GO:0055123 digestive system developmentIMP
GO:0060271 cilium assemblyIBA
GO:0060271 cilium assemblyIMP
GO:0060271 cilium assemblyIGI
GO:0060271 cilium assemblyISO
GO:0060830 ciliary receptor clustering involved in smoothened signaling pathwayIGI
GO:0060831 smoothened signaling pathway involved in dorsal/ventral neural tube patterningIGI
GO:0060831 smoothened signaling pathway involved in dorsal/ventral neural tube patterningIMP
GO:0061055 myotome developmentIMP
GO:0061512 protein localization to ciliumISO
GO:0065003 protein-containing complex assemblyISS
GO:0065003 protein-containing complex assemblyISO
GO:1903441 protein localization to ciliary membraneISS
GO:1903441 protein localization to ciliary membraneISO

GO:Cellular Component

GO ID GO Term Evidence
GO:0001750 photoreceptor outer segmentIEA
GO:0005737 cytoplasmIEA
GO:0005856 cytoskeletonIEA
GO:0005929 ciliumIBA
GO:0005929 ciliumIDA
GO:0030991 intraciliary transport particle AISS
GO:0030991 intraciliary transport particle AISO
GO:0030991 intraciliary transport particle AIDA
GO:0030991 intraciliary transport particle AIBA
GO:0031514 motile ciliumIDA
GO:0032391 photoreceptor connecting ciliumIDA
GO:0097730 non-motile ciliumIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-162582 Signal TransductionIEA
R-MMU-1852241 Organelle biogenesis and maintenanceIEA
R-MMU-5358351 Signaling by HedgehogIEA
R-MMU-5610787 Hedgehog 'off' stateIEA
R-MMU-5617833 Cilium AssemblyIEA
R-MMU-5620924 Intraflagellar transportIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0966 Cell projection
KW-0969 Cilium
KW-0970 Cilium biogenesis/degradation
KW-0963 Cytoplasm
KW-0206 Cytoskeleton
KW-1185 Reference proteome
KW-0677 Repeat
KW-0802 TPR repeat
KW-0853 WD repeat

Interpro

InterPro ID InterPro Term
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

PROSITE

PROSITE ID PROSITE Term
PS50294 WD_REPEATS_REGION

Pfam

Pfam ID Pfam Term
PF15911 WD40_3