2700049A03Rik RIKEN cDNA 2700049A03 gene [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: 2700049A03Rikprovided by MGI
Official Full Name: RIKEN cDNA 2700049A03 geneprovided by MGI
Primary source: MGI:MGI:1924217
See related: Ensembl:ENSMUSG00000034601 AllianceGenome:MGI:1924217
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: Ta3; Talpid3; mKIAA0586
Summary: Involved in cilium assembly and smoothened signaling pathway. Located in centrosome. Is expressed in embryo. Human ortholog(s) of this gene implicated in Joubert syndrome 23 and short-rib thoracic dysplasia 14 with polydactyly. Orthologous to human KIAA0586 (KIAA0586). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in testis adult (RPKM 9.4), CNS E14 (RPKM 3.4) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C2- C3; 12 29.39 cM

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (71183627..71356273)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (71136848..71309964)

Chromosome 12 - NC_000078.7 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
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?

Absence of the primary cilia formation gene Talpid3 impairs muscle stem cell function.
Title: Absence of the primary cilia formation gene Talpid3 impairs muscle stem cell function.
Findings in a mouse model reveal a role for Talpid3 in granule precursor cell migration in the cerebellum (either direct or indirect) which together with defective Hedgehog signaling underlies the Joubert syndrome phenotype.
Title: Mice with a conditional deletion of Talpid3 (KIAA0586) - a model for Joubert syndrome.
Gli2 and Gli3 are dephosphorylated and activated in cilia and that impaired Gli2 and Gli3 processing in Ta3 mutant is at least in part due to a decrease in Gli2 and Gli3 phosphorylation.
Title: PKA-mediated Gli2 and Gli3 phosphorylation is inhibited by Hedgehog signaling in cilia and reduced in Talpid3 mutant.
The loss of Talpid3-binding centrosomal protein Cep120 results in failed centriole duplication and consequently ciliogenesis, which together underlie Cep120 mutant cerebellar hypoplasia.
Title: Talpid3-binding centrosomal protein Cep120 is required for centriole duplication and proliferation of cerebellar granule neuron progenitors.
Data show that talpid3-/- mouse embryos lack primary cilia and, like talpid(3) chicken embryos, have face and neural tube defects but also defects in left/right asymmetry.
Title: Generation of mice with functional inactivation of talpid3, a gene first identified in chicken.

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Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (3) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in 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
acts_upstream_of_or_within regulation of establishment of protein localization	ISO Inferred from Sequence Orthology more info	PubMed
involved_in smoothened signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in centriole	IBA Inferred from Biological aspect of Ancestor more info
located_in centriole	IEA Inferred from Electronic Annotation more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	ISO Inferred from Sequence Orthology more info	PubMed
located_in centrosome	ISS Inferred from Sequence or Structural Similarity more info
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in photoreceptor inner segment	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein TALPID3

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_001163378.2 → NP_001156850.1 protein TALPID3 isoform 1

See identical proteins and their annotated locations for NP_001156850.1

Status: VALIDATED

Description

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

Source sequence(s)

AC159620

Consensus CDS

CCDS49081.1

UniProtKB/Swiss-Prot

B2RWX3, E9PV87

UniProtKB/TrEMBL

Q6A042

Related

ENSMUSP00000118956.2, ENSMUST00000149564.8

Conserved Domains (2) summary

pfam15324
Location:116 → 1347

TALPID3; Hedgehog signalling target

cl01860
Location:259 → 311

DUF436; Protein of unknown function (DUF436)
NM_029818.2 → NP_084094.1 protein TALPID3 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks two in-frame exons in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.

Source sequence(s)

AC159620

Consensus CDS

CCDS49082.1

UniProtKB/TrEMBL

E9Q0E2, Q6A042

Related

ENSMUSP00000044701.9, ENSMUST00000045907.16

Conserved Domains (2) summary

pfam15324
Location:116 → 1347

TALPID3; Hedgehog signalling target

cl01860
Location:259 → 311

DUF436; Protein of unknown function (DUF436)

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

71183627..71356273

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006516365.5 → XP_006516428.1 protein TALPID3 isoform X2

UniProtKB/TrEMBL

Q6A042

Conserved Domains (1) summary

pfam15324
Location:117 → 1347

TALPID3; Hedgehog signalling target
XM_006516364.4 → XP_006516427.1 protein TALPID3 isoform X1

UniProtKB/TrEMBL

Q6A042

Conserved Domains (1) summary

pfam15324
Location:117 → 1293

TALPID3; Hedgehog signalling target
XM_006516366.5 → XP_006516429.1 protein TALPID3 isoform X4

Conserved Domains (1) summary

pfam15324
Location:117 → 984

TALPID3; Hedgehog signalling target
XM_030246978.2 → XP_030102838.1 protein TALPID3 isoform X3

UniProtKB/TrEMBL

Q6A042

Conserved Domains (1) summary

pfam15324
Location:1 → 1206

TALPID3; Hedgehog signalling target