tbcd tubulin folding cofactor D [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: tbcdprovided by ZNC
Official Full Name: tubulin folding cofactor Dprovided by ZNC
Primary source: ZFIN:ZDB-GENE-060823-1
See related: Ensembl:ENSDARG00000098749 AllianceGenome:ZFIN:ZDB-GENE-060823-1
Gene type: protein coding
RefSeq status: MODEL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Summary: Predicted to enable GTPase activator activity and beta-tubulin binding activity. Acts upstream of or within brain development and retina layer formation. Predicted to be active in lateral plasma membrane. Human ortholog(s) of this gene implicated in early onset progressive encephalopathy with brain atrophy and thin corpus callosum. Orthologous to human TBCD (tubulin folding cofactor D). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	3	NC_007114.7 (48234112..48327306)
105	previous assembly	GRCz10 (GCF_000002035.5)	3	NC_007114.6 (44088686..44182651)

Chromosome 3 - NC_007114.7 Genomic Context describing neighboring genes

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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

TBCD expression required for the normal function of microtubular dynamic instability.
Title: Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.

Submit: New GeneRIF Correction

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables beta-tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables beta-tubulin binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in adherens junction assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in bicellular tight junction assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within post-chaperonin tubulin folding pathway	IEA Inferred from Electronic Annotation more info
involved_in protein folding	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within retina layer formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within tubulin complex assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in lateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

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