si:ch211-185a18.2 si:ch211-185a18.2 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: si:ch211-185a18.2provided by ZNC
Official Full Name: si:ch211-185a18.2provided by ZNC
Primary source: ZFIN:ZDB-GENE-120119-1
See related: Ensembl:ENSDARG00000097772 AllianceGenome:ZFIN:ZDB-GENE-120119-1
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: kiaa0586
Summary: Acts upstream of or within cilium assembly; photoreceptor cell outer segment organization; and smoothened signaling pathway. Located in centriole and ciliary basal body. Is expressed in eye photoreceptor cell. 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, Apr 2022]
Orthologs: human mouse all
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Genomic context

See si:ch211-185a18.2 in Genome Data Viewer

Location:: chromosome: 17

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	17	NC_007128.7 (11073415..11368149, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	17	NC_007128.6 (10919349..11214083, complement)

Chromosome 17 - NC_007128.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

While localization of the small GTPase Rab8a, which plays an important role in basal body docking, appears unaffected in talpid3-/- photoreceptors, overexpression of constitutively active Rab8a rescues outer segment formation, indicating that the role of Ta3 in early ciliogenesis lies upstream of Rab8a activation in photoreceptors.
Title: The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance.
Targeted mutation of the talpid3 gene in zebrafish demonstrates that the phenotype of such maternal and zygotic (MZta3) mutant zebrafish showed strong similarities to that of chick ta3 mutants: absence of primary and motile cilia as well as aberrant Hedgehog (Hh) signaling.
Title: Targeted mutation of the talpid3 gene in zebrafish reveals its conserved requirement for ciliogenesis and Hedgehog signalling across the vertebrates.

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General gene information

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Gene Ontology Provided by ZFIN

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within photoreceptor cell outer segment organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in smoothened signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in centriole	IBA Inferred from Biological aspect of Ancestor more info
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein TALPID3

Names: ta3; talpid 3; 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.