Tbck TBC1 domain containing kinase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tbckprovided by MGI
Official Full Name: TBC1 domain containing kinaseprovided by MGI
Primary source: MGI:MGI:2445052
See related: Ensembl:ENSMUSG00000028030 AllianceGenome:MGI:2445052
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: Tbckl; 9430001M19; 1700120J03Rik; A630047E20Rik; C030007I09Rik
Summary: Predicted to enable GTPase activator activity. Predicted to be involved in actin cytoskeleton organization; cell population proliferation; and regulation of TOR signaling. Predicted to be located in cytoplasm; midbody; and mitotic spindle. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; hemolymphoid system gland; and nervous system. 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). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in kidney adult (RPKM 2.2), whole brain E14.5 (RPKM 2.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 G3; 3 61.49 cM

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (132389874..132547451)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (132684113..132841688)

Chromosome 3 - NC_000069.7 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: 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?

Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.
Title: Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.
Includes the study of an upstream ORF in this gene, and shows that it functions to reduce protein levels by ~49%.
Title: Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.

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Variation

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Alleles

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

Endonuclease-mediated (1)
Gene trapped (1)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
NOT enables ATP binding	NAS Non-traceable Author Statement more info	PubMed
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
NOT enables protein kinase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in cell population proliferation	ISO Inferred from Sequence Orthology more info
NOT involved_in protein phosphorylation	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of TOR signaling	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in early endosome	IEA Inferred from Electronic Annotation more info
located_in midbody	IEA Inferred from Electronic Annotation more info
located_in midbody	ISO Inferred from Sequence Orthology more info
located_in mitotic spindle	ISO Inferred from Sequence Orthology more info
located_in spindle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: TBC domain-containing protein kinase-like protein

Names: FERRY endosomal RAB5A effector complex subunit 1

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_001163455.2 → NP_001156927.1 TBC domain-containing protein kinase-like protein

Status: VALIDATED

Source sequence(s)

AC135118, AC139942, AK007218, AK034533, AK081215, CN720994

Consensus CDS

CCDS51070.1

UniProtKB/Swiss-Prot

E9Q1W7, Q8BM85, Q8BWD3, Q8BY53

Related

ENSMUSP00000129205.2, ENSMUST00000169172.5

Conserved Domains (4) summary

smart00164
Location:467 → 671

TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

smart00220
Location:43 → 273

S_TKc; Serine/Threonine protein kinases, catalytic domain

cl00125
Location:771 → 882

RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...

cl21453
Location:43 → 271

PKc_like; Protein Kinases, catalytic domain

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_000069.7 Reference GRCm39 C57BL/6J

Range

132389874..132547451

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006501553.4 → XP_006501616.1 TBC domain-containing protein kinase-like protein isoform X2

Conserved Domains (2) summary

smart00164
Location:467 → 671

TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

smart00220
Location:43 → 273

S_TKc; Serine/Threonine protein kinases, catalytic domain
XM_036163128.1 → XP_036019021.1 TBC domain-containing protein kinase-like protein isoform X1

Conserved Domains (3) summary

smart00164
Location:328 → 532

TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

cd01525
Location:632 → 743

RHOD_Kc; Member of the Rhodanese Homology Domain superfamily. Included in this CD are the rhodanese-like domains found C-terminal of the serine/threonine protein kinases catalytic (S_TKc) domain and the Tre-2, BUB2p, Cdc16p (TBC) domain. The putative active site ...

cl21453
Location:12 → 134

PKc_like; Protein Kinases, catalytic domain

RNA

XR_001783696.2 RNA Sequence
XR_004941333.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_173032.3: Suppressed sequence

Description

NM_173032.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein, and the transcript appears incomplete at the 3' end.