Gene

tbck

ID

ZDB-GENE-070112-1062

Name

TBC1 domain containing kinase

Symbol

tbck Nomenclature History

Previous Names

im:7138354
wu:fc74a10
zgc:158710

Type

protein_coding_gene

Location

Chr: 1 Mapping Details/Browsers

Description

Predicted to enable GTPase activator activity. Acts upstream of or within heart development. Predicted to be located in early endosome; midbody; and spindle. Is expressed in heart and heart tube. Human ortholog(s) of this gene implicated in infantile hypotonia with psychomotor retardation and characteristic facies-3. Orthologous to human TBCK (TBC1 domain containing kinase).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7138354 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Ma et al., 2022
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With tbck Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
infantile hypotonia with psychomotor retardation and characteristic facies-3	Alliance	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	616900

Associated With tbck Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000195	Rab-GAP-TBC domain
Domain	IPR000719	Protein kinase domain
Domain	IPR001763	Rhodanese-like domain
Homologous_superfamily	IPR011009	Protein kinase-like domain superfamily
Homologous_superfamily	IPR035969	Rab-GAP-TBC domain superfamily
Homologous_superfamily	IPR036873	Rhodanese-like domain superfamily

Domain Details Per Protein

Protein	Additional Resources	Length	Protein kinase domain	Protein kinase-like domain superfamily	Rab-GAP-TBC domain	Rab-GAP-TBC domain superfamily	Rhodanese-like domain	Rhodanese-like domain superfamily
UniProtKB:E7F1V3	InterPro	893

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	tbck-201 (1) Ensembl	Ensembl	870 nt	Select Tool ZFIN BLAST
mRNA	tbck-202 (1) Ensembl	Ensembl	1,039 nt	Select Tool ZFIN BLAST
mRNA	tbck-203 (1) Ensembl	Ensembl	3,026 nt	Select Tool ZFIN BLAST
mRNA	tbck-204 (1) Ensembl	Ensembl	2,682 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations