Wdr19 WD repeat domain 19 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Wdr19provided by MGI
Official Full Name: WD repeat domain 19provided by MGI
Primary source: MGI:MGI:2443231
See related: Ensembl:ENSMUSG00000037890 AllianceGenome:MGI:2443231
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: DYF2; PWDMP; Ift144; mKIAA1638; C330027H04Rik; D330023L08Rik
Summary: Acts upstream of or within several processes, including chordate embryonic development; embryonic organ development; and myotome development. Located in motile cilium and photoreceptor connecting cilium. Part of intraciliary transport particle A. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system gland; liver; and lung. Used to study ciliopathy. Human ortholog(s) of this gene implicated in several diseases, including Caroli disease; Senior-Loken syndrome; asphyxiating thoracic dystrophy 5; cranioectodermal dysplasia 4; and nephronophthisis 13. Orthologous to human WDR19 (WD repeat domain 19). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in testis adult (RPKM 6.3), frontal lobe adult (RPKM 3.9) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 C3.1; 5 33.58 cM

Exon count:: 37

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (65357039..65417758)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (65199696..65260415)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Large deletion of Wdr19 in developing renal tubules disrupts primary ciliogenesis, leading to polycystic kidney disease in mice.
Title: Large deletion of Wdr19 in developing renal tubules disrupts primary ciliogenesis, leading to polycystic kidney disease in mice.
Mutations in Ift144, encoding a component of the trafficking machinery of primary cilia assembly, result in a range of embryo patterning defects, affecting the limbs, skeleton and neural system. Here, we show that embryos
Title: Primary cilia function regulates the length of the embryonic trunk axis and urogenital field in mice.
study describes a mouse with an N-ethyl-N-nitrosourea -induced hypomorphic mutation in the gene encoding the IFT-A protein WDR19/IFT144; phenotypically, this mutant, twinkle-toes (Ift144twt), displays a number of features reminiscent of skeletal ciliopathies; Ift144 mutant embryos display a generalized ligand-independent expansion of hedgehog signalling
Title: Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies.
A weak allele of the IFT-A gene, Ift144, caused subtle defects in cilia structure and ectopic activation of the Shh pathway.
Title: The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking.
Expressed in normal and neoplastic prostate epithelium and is regulated by androgenic hormones.
Title: Isolation and characterization of human and mouse WDR19,a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (1)
Transgenic (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235183

NoName (e-PCR)
- UniSTS:235184

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cilium assembly	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium assembly	ISO Inferred from Sequence Orthology more info	PubMed
involved_in cilium assembly	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within digestive system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intraciliary retrograde transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intraciliary retrograde transport	ISO Inferred from Sequence Orthology more info	PubMed
involved_in intraciliary retrograde transport	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within myotome development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nervous system process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to ciliary membrane	ISO Inferred from Sequence Orthology more info
involved_in protein localization to ciliary membrane	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within protein localization to cilium	ISO Inferred from Sequence Orthology more info
involved_in protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
involved_in protein-containing complex assembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within receptor clustering	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	NAS Non-traceable Author Statement more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
part_of intraciliary transport particle A	IBA Inferred from Biological aspect of Ancestor more info
part_of intraciliary transport particle A	IDA Inferred from Direct Assay more info	PubMed
part_of intraciliary transport particle A	ISO Inferred from Sequence Orthology more info
part_of intraciliary transport particle A	ISS Inferred from Sequence or Structural Similarity more info
located_in motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in non-motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor connecting cilium	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: WD repeat-containing protein 19

Names: WD repeat membrane protein PWDMP; intraflagellar transport 144 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001359879.1 → NP_001346808.1 WD repeat-containing protein 19 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AC138654, AK147970

Consensus CDS

CCDS51509.1

UniProtKB/Swiss-Prot

Q3UGF1, Q6ZPK8, Q80VQ6, Q8C794, Q8K3R5

Related

ENSMUSP00000144866.2, ENSMUST00000203653.3

Conserved Domains (7) summary

COG0457
Location:755 → 1045

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

COG2319
Location:19 → 345

WD40; WD40 repeat [General function prediction only]

sd00006
Location:779 → 803

TPR; TPR repeat [structural motif]

sd00039
Location:20 → 55

7WD40; WD40 repeat [structural motif]

pfam12773
Location:1253 → 1296

DZR; Double zinc ribbon

pfam15911
Location:508 → 564

WD40_3; WD domain, G-beta repeat

cl26078
Location:851 → 964

Clathrin; Region in Clathrin and VPS
NM_001359880.1 → NP_001346809.1 WD repeat-containing protein 19 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence conpared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AC132222, AC138654, AK052303

Related

ENSMUST00000204647.3

Conserved Domains (6) summary

COG0457
Location:748 → 937

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

COG2319
Location:19 → 345

WD40; WD40 repeat [General function prediction only]

sd00006
Location:779 → 803

TPR; TPR repeat [structural motif]

sd00039
Location:20 → 55

7WD40; WD40 repeat [structural motif]

pfam15911
Location:508 → 564

WD40_3; WD domain, G-beta repeat

cl26078
Location:851 → 964

Clathrin; Region in Clathrin and VPS
NM_153391.2 → NP_700440.2 WD repeat-containing protein 19 isoform a

See identical proteins and their annotated locations for NP_700440.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variant 1 and 2 both encode the same isoform (a).

Source sequence(s)

AC132222, AC138654

Consensus CDS

CCDS51509.1

UniProtKB/Swiss-Prot

Q3UGF1, Q6ZPK8, Q80VQ6, Q8C794, Q8K3R5

Related

ENSMUSP00000038098.9, ENSMUST00000041892.13

Conserved Domains (7) summary

COG0457
Location:755 → 1045

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

COG2319
Location:19 → 345

WD40; WD40 repeat [General function prediction only]

sd00006
Location:779 → 803

TPR; TPR repeat [structural motif]

sd00039
Location:20 → 55

7WD40; WD40 repeat [structural motif]

pfam12773
Location:1253 → 1296

DZR; Double zinc ribbon

pfam15911
Location:508 → 564

WD40_3; WD domain, G-beta repeat

cl26078
Location:851 → 964

Clathrin; Region in Clathrin and VPS