Tbc1d30 TBC1 domain family, member 30 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tbc1d30provided by MGI
Official Full Name: TBC1 domain family, member 30provided by MGI
Primary source: MGI:MGI:1921944
See related: Ensembl:ENSMUSG00000052302 AllianceGenome:MGI:1921944
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: 4930505D03Rik; 9530013E20Rik
Summary: Predicted to enable GTPase activator activity and small GTPase binding activity. Predicted to be involved in negative regulation of cilium assembly and positive regulation of GTPase activity. Predicted to be located in ciliary basal body; cytosol; and plasma membrane. Orthologous to human TBC1D30 (TBC1 domain family member 30). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cortex adult (RPKM 11.0), CNS E18 (RPKM 6.8) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10; 10 D2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (121099724..121187549, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (121263819..121351644, complement)

Chromosome 10 - NC_000076.7 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 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?

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Variation

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Alleles

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

Endonuclease-mediated (2)

General gene information

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Gene Ontology Provided by MGI

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 GTPase activator activity	ISO Inferred from Sequence Orthology more info
enables small GTPase binding	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in negative regulation of cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of GTPase activity	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in ciliary basal body	IEA Inferred from Electronic Annotation more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in cilium	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: TBC1 domain family member 30

Names: TBC1 domain family member 30-like

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_001361015.1 → NP_001347944.1 TBC1 domain family member 30 isoform 2

Status: VALIDATED

Source sequence(s)

AC135360, AC140264, BC059081

Conserved Domains (2) summary

smart00164
Location:208 → 429

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

pfam15733
Location:598 → 726

DUF4682; Domain of unknown function (DUF4682)
NM_029057.2 → NP_083333.1 TBC1 domain family member 30 isoform 1

See identical proteins and their annotated locations for NP_083333.1

Status: VALIDATED

Source sequence(s)

BC059081, BC138286

Consensus CDS

CCDS48704.1

UniProtKB/Swiss-Prot

B9EHP9, Q69ZT9, Q6AXF5, Q6PCX1, Q8C8T3

Related

ENSMUSP00000070488.6, ENSMUST00000064107.7

Conserved Domains (2) summary

smart00164
Location:85 → 306

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

pfam15733
Location:475 → 604

DUF4682; Domain of unknown function (DUF4682)

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_000076.7 Reference GRCm39 C57BL/6J

Range

121099724..121187549 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006514253.5 → XP_006514316.1 TBC1 domain family member 30 isoform X2

Conserved Domains (2) summary

smart00164
Location:85 → 306

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

pfam15733
Location:475 → 623

DUF4682; Domain of unknown function (DUF4682)
XM_006514254.5 → XP_006514317.1 TBC1 domain family member 30 isoform X3

Conserved Domains (2) summary

pfam00566
Location:4 → 114

RabGAP-TBC; Rab-GTPase-TBC domain

pfam15733
Location:275 → 423

DUF4682; Domain of unknown function (DUF4682)
XM_030245334.2 → XP_030101194.1 TBC1 domain family member 30 isoform X1

Conserved Domains (2) summary

smart00164
Location:208 → 429

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

pfam15733
Location:598 → 746

DUF4682; Domain of unknown function (DUF4682)