Wdr35 WD repeat domain 35 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Wdr35provided by MGI
Official Full Name: WD repeat domain 35provided by MGI
Primary source: MGI:MGI:1921932
See related: Ensembl:ENSMUSG00000066643 AllianceGenome:MGI:1921932
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: mKIAA1336; 4931430C06; 4930459M12Rik
Summary: Involved in cilium assembly. Acts upstream of or within cellular response to leukemia inhibitory factor. Located in axoneme; centrosome; and ciliary basal body. Part of intraciliary transport particle A. Is expressed in several structures, including choroid plexus; future forebrain; limb mesenchyme; lobar bronchus epithelium; and sensory organ. Used to study short-rib thoracic dysplasia 7 with or without polydactyly. Human ortholog(s) of this gene implicated in Ellis-Van Creveld syndrome; cranioectodermal dysplasia 2; and short-rib thoracic dysplasia 7 with or without polydactyly. Orthologous to human WDR35 (WD repeat domain 35). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis adult (RPKM 14.6), CNS E18 (RPKM 6.0) and 15 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 12 A1.1; 12 3.97 cM

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (9023897..9078848)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (8973998..9028848)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: 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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A WDR35-dependent coat protein complex transports ciliary membrane cargo vesicles to cilia.
Title: A WDR35-dependent coat protein complex transports ciliary membrane cargo vesicles to cilia.
These results suggest that bupivacaine activates AMPK and p38 MAPK via CaMKK in Neuro2a cells, and that the CaMKK/AMPK/p38 MAPK pathway is involved in regulating WDR35 expression.
Title: Enhanced expression of WD repeat-containing protein 35 via CaMKK/AMPK activation in bupivacaine-treated Neuro2a cells.
C-Jun siRNA did not inhibit the bupivacaine-induced increase in WDR35 mRNA expression.
Title: Enhanced expression of WD repeat-containing protein 35 via nuclear factor-kappa B activation in bupivacaine-treated Neuro2a cells.
In a mutation screen for developmental phenotypes, we identified a mutation in Wdr35 as the cause of midgestation lethality, with abnormalities characteristic of defects in the Hedgehog signaling pathway.
Title: Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

Submit: New GeneRIF Correction

Variation

Go to the top of the page Help

Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3)
Targeted (1)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D12Mit267 (e-PCR), detects polymorphism
- UniSTS:126826

Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
acts_upstream_of_or_within cellular response to leukemia inhibitory factor	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to tumor necrosis factor	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	NAS Non-traceable Author Statement 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
involved_in intraciliary retrograde transport	NAS Non-traceable Author Statement more info	PubMed
involved_in intraciliary transport	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of nitric oxide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of release of cytochrome c from mitochondria	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of vasoconstriction	ISO Inferred from Sequence Orthology more info
involved_in protein localization to cilium	IEA Inferred from Electronic Annotation more info
involved_in protein localization to cilium	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	NAS Non-traceable Author Statement more info	PubMed
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

General protein information

Go to the top of the page Help

Preferred Names: WD repeat-containing protein 35

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001159527.1 → NP_001152999.1 WD repeat-containing protein 35 isoform 2

See identical proteins and their annotated locations for NP_001152999.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, as compared to variant 1. The encoded isoform (2) thus lacks an internal segment, as compared to isoform 1.

Source sequence(s)

AK029896, BC056925

Consensus CDS

CCDS49027.1

UniProtKB/Swiss-Prot

Q8BND3

Related

ENSMUSP00000106742.3, ENSMUST00000111113.3

Conserved Domains (2) summary

COG2319
Location:7 → 217

WD40; WD40 repeat [General function prediction only]

sd00039
Location:18 → 69

7WD40; WD40 repeat [structural motif]
NM_172470.3 → NP_766058.3 WD repeat-containing protein 35 isoform 1

See identical proteins and their annotated locations for NP_766058.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK029896, BC056925

Consensus CDS

CCDS25807.1

UniProtKB/Swiss-Prot

E9QLW3, Q8BND3, Q8CDL4

Related

ENSMUSP00000082895.7, ENSMUST00000085745.13

Conserved Domains (3) summary

COG2319
Location:7 → 217

WD40; WD40 repeat [General function prediction only]

sd00039
Location:18 → 69

7WD40; WD40 repeat [structural motif]

cl26078
Location:829 → 920

Clathrin; Region in Clathrin and VPS

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000078.7 Reference GRCm39 C57BL/6J

Range

9023897..9078848

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036157633.1 → XP_036013526.1 WD repeat-containing protein 35 isoform X1

Conserved Domains (2) summary

COG2319
Location:7 → 217

WD40; WD40 repeat [General function prediction only]

sd00039
Location:18 → 69

7WD40; WD40 repeat [structural motif]