Tbc1d23 TBC1 domain family, member 23 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tbc1d23provided by MGI
Official Full Name: TBC1 domain family, member 23provided by MGI
Primary source: MGI:MGI:1914831
See related: Ensembl:ENSMUSG00000022749 AllianceGenome:MGI:1914831
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: 4930451A13Rik; D030022P07Rik
Summary: Involved in embryonic brain development; neuron projection development; and vesicle-mediated transport. Acts upstream of or within positive regulation of interleukin-6 production; regulation of inflammatory response; and regulation of tumor necrosis factor production. Part of WASH complex. Is expressed in pallium. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 11. Orthologous to human TBC1D23 (TBC1 domain family member 23). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E18 (RPKM 9.9), limb E14.5 (RPKM 9.6) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 C1.1; 16 34.22 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (56989225..57051891, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (57168862..57231528, complement)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Homozygous Truncating Variants in TBC1D23 gene are associated with Pontocerebellar Hypoplasia and Alter Cortical Development.
Title: Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
we now show that Tbc1d23 is a general inhibitor of innate immunity signaling, strongly inhibiting multiple TLR and dectin-signaling pathways
Title: Spatiotemporal inhibition of innate immunity signaling by the Tbc1d23 RAB-GAP.

Submit: New GeneRIF Correction

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU015720 (e-PCR)
- UniSTS:209227

AU043671 (e-PCR)
- UniSTS:186076

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in brain development	ISO Inferred from Sequence Orthology more info
involved_in brain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic brain development	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryonic brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of interleukin-6 production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of tumor necrosis factor production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retrograde transport, endosome to Golgi	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde transport, endosome to Golgi	IEA Inferred from Electronic Annotation more info
involved_in retrograde transport, endosome to Golgi	ISO Inferred from Sequence Orthology more info
involved_in vesicle tethering to Golgi	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle tethering to Golgi	ISO Inferred from Sequence Orthology more info
involved_in vesicle tethering to Golgi	ISS Inferred from Sequence or Structural Similarity more info
involved_in vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
part_of WASH complex	IDA Inferred from Direct Assay more info	PubMed
part_of WASH complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info
located_in trans-Golgi network	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: TBC1 domain family member 23

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_001358433.1 → NP_001345362.1 TBC1 domain family member 23 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC154625

Consensus CDS

CCDS88947.1

UniProtKB/TrEMBL

A0A2I3BRD1

Related

ENSMUSP00000154535.2, ENSMUST00000226586.2

Conserved Domains (2) summary

pfam00566
Location:48 → 246

RabGAP-TBC; Rab-GTPase-TBC domain

pfam00581
Location:334 → 384

Rhodanese; Rhodanese-like domain
NM_001358434.1 → NP_001345363.1 TBC1 domain family member 23 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AC154625

Conserved Domains (2) summary

pfam00581
Location:101 → 151

Rhodanese; Rhodanese-like domain

cd20788
Location:346 → 460

TBC1D23_C-like; C-terminal domain of TBC1 domain family member 23, and similar proteins
NM_026254.2 → NP_080530.2 TBC1 domain family member 23 isoform 2

See identical proteins and their annotated locations for NP_080530.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

BC031706

Consensus CDS

CCDS28228.1

UniProtKB/Swiss-Prot

Q3TAW9, Q8K0F1, Q8VE48

Related

ENSMUSP00000023431.7, ENSMUST00000023431.8

Conserved Domains (2) summary

pfam00566
Location:79 → 246

RabGAP-TBC; Rab-GTPase-TBC domain

cl00125
Location:328 → 439

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 ...

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_000082.7 Reference GRCm39 C57BL/6J

Range

56989225..57051891 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036160099.1 → XP_036015992.1 TBC1 domain family member 23 isoform X5

Conserved Domains (2) summary

pfam00581
Location:101 → 151

Rhodanese; Rhodanese-like domain

cd20788
Location:331 → 445

TBC1D23_C-like; C-terminal domain of TBC1 domain family member 23, and similar proteins
XM_030249251.1 → XP_030105111.1 TBC1 domain family member 23 isoform X2

Conserved Domains (2) summary

pfam00581
Location:182 → 229

Rhodanese; Rhodanese-like domain

cl02495
Location:4 → 94

RabGAP-TBC; Rab-GTPase-TBC domain
XM_036160100.1 → XP_036015993.1 TBC1 domain family member 23 isoform X5

Conserved Domains (2) summary

pfam00581
Location:101 → 151

Rhodanese; Rhodanese-like domain

cd20788
Location:331 → 445

TBC1D23_C-like; C-terminal domain of TBC1 domain family member 23, and similar proteins
XM_030249252.2 → XP_030105112.1 TBC1 domain family member 23 isoform X4

Conserved Domains (2) summary

pfam00581
Location:97 → 147

Rhodanese; Rhodanese-like domain

cd20788
Location:342 → 456

TBC1D23_C-like; C-terminal domain of TBC1 domain family member 23, and similar proteins
XM_030249253.2 → XP_030105113.1 TBC1 domain family member 23 isoform X4

Conserved Domains (2) summary

pfam00581
Location:97 → 147

Rhodanese; Rhodanese-like domain

cd20788
Location:342 → 456

TBC1D23_C-like; C-terminal domain of TBC1 domain family member 23, and similar proteins
XM_006522485.3 → XP_006522548.1 TBC1 domain family member 23 isoform X1

Conserved Domains (2) summary

pfam00581
Location:182 → 229

Rhodanese; Rhodanese-like domain

cl02495
Location:4 → 94

RabGAP-TBC; Rab-GTPase-TBC domain
XM_036160098.1 → XP_036015991.1 TBC1 domain family member 23 isoform X4

Conserved Domains (2) summary

pfam00581
Location:97 → 147

Rhodanese; Rhodanese-like domain

cd20788
Location:342 → 456

TBC1D23_C-like; C-terminal domain of TBC1 domain family member 23, and similar proteins
XM_030249250.2 → XP_030105110.1 TBC1 domain family member 23 isoform X1

Conserved Domains (2) summary

pfam00581
Location:182 → 229

Rhodanese; Rhodanese-like domain

cl02495
Location:4 → 94

RabGAP-TBC; Rab-GTPase-TBC domain
XM_036160097.1 → XP_036015990.1 TBC1 domain family member 23 isoform X3

Conserved Domains (2) summary

pfam00581
Location:101 → 151

Rhodanese; Rhodanese-like domain

cd20788
Location:346 → 460

TBC1D23_C-like; C-terminal domain of TBC1 domain family member 23, and similar proteins