Tbc1d4 TBC1 domain family, member 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tbc1d4provided by MGI
Official Full Name: TBC1 domain family, member 4provided by MGI
Primary source: MGI:MGI:2429660
See related: Ensembl:ENSMUSG00000033083 AllianceGenome:MGI:2429660
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: As160; A930035N22; 5930406J04Rik
Summary: Predicted to enable GTPase activator activity. Predicted to be involved in several processes, including activation of GTPase activity; intracellular protein transport; and negative regulation of vesicle fusion. Predicted to act upstream of or within cellular response to insulin stimulus. Predicted to be located in cytosol and vesicle. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; hemolymphoid system gland; and respiratory system. Human ortholog(s) of this gene implicated in acanthosis nigricans. Orthologous to human TBC1D4 (TBC1 domain family member 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in heart adult (RPKM 6.6), adrenal adult (RPKM 6.0) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 E2.3; 14 50.9 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (101679800..101846717, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (101442360..101609281, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

TBC1D4-S711 Controls Skeletal Muscle Insulin Sensitization After Exercise and Contraction.
Title: TBC1D4-S711 Controls Skeletal Muscle Insulin Sensitization After Exercise and Contraction.
Deletion of Tbc1d4/As160 abrogates cardiac glucose uptake and increases myocardial damage after ischemia/reperfusion.
Title: Deletion of Tbc1d4/As160 abrogates cardiac glucose uptake and increases myocardial damage after ischemia/reperfusion.
The RabGAPs TBC1D1 and TBC1D4 Control Uptake of Long-Chain Fatty Acids Into Skeletal Muscle via Fatty Acid Transporter SLC27A4/FATP4.
Title: The RabGAPs TBC1D1 and TBC1D4 Control Uptake of Long-Chain Fatty Acids Into Skeletal Muscle via Fatty Acid Transporter SLC27A4/FATP4.
These results provide genetic evidence linking signaling through TBC1D4 to enhanced muscle insulin sensitivity after activation of the cellular energy sensor AMPK.
Title: TBC1D4 Is Necessary for Enhancing Muscle Insulin Sensitivity in Response to AICAR and Contraction.
Fkbp5 knockouts are protected from high-fat diet-induced weight gain, show improved glucose tolerance and increased insulin signaling in skeletal muscle. We identify a novel association between FKBP51 and AS160, a substrate of AKT2 that is involved in glucose uptake. FKBP51 antagonism increases the phosphorylation of AS160.
Title: Stress-responsive FKBP51 regulates AKT2-AS160 signaling and metabolic function.
AS160 regulates glucose-independent eukaryotic cell proliferation through p21-dependent control of the cell cycle.
Title: AS160 controls eukaryotic cell cycle and proliferation by regulating the CDK inhibitor p21.
Findings demonstrate that the RabGAP activity of AS160 maintains GLUT4 protein levels in a cell/tissue-autonomous manner and its inactivation causes lysosomal degradation of GLUT4 and postprandial hyperglycemia and hyperinsulinemia.
Title: The Inactivation of RabGAP Function of AS160 Promotes Lysosomal Degradation of GLUT4 and Causes Postprandial Hyperglycemia and Hyperinsulinemia.
Rab28 is a substrate for the GAP domains of both TBC1D1 and TBC1D4 in vitro.
Title: Rab28 is a TBC1D1/TBC1D4 substrate involved in GLUT4 trafficking.
As160 knockout mice have GLUT4 expression and glucose uptake defects in skeletal muscle and adipose tissue. These defects combine in AS160 KO/Tbc1d1 KO mice, supporting nonredundant functions for AS160 and Tbc1d1.
Title: Rab GAPs AS160 and Tbc1d1 play nonredundant roles in the regulation of glucose and energy homeostasis in mice.
AS160 has a direct role in linking the trafficking of Na(+),K(+)-ATPase to the energy state of renal epithelial cells
Title: Akt Substrate of 160 kD Regulates Na+,K+-ATPase Trafficking in Response to Energy Depletion and Renal Ischemia.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Variation

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Alleles

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

Targeted (7) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14Mit176 (e-PCR), detects polymorphism
- UniSTS:127288

D14Mit8 (e-PCR), detects polymorphism
- UniSTS:127436

Tbc1d4 (e-PCR), detects polymorphism
- UniSTS:527574

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in activation of GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cellular response to insulin stimulus	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cellular response to insulin stimulus	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of vesicle fusion	ISO Inferred from Sequence Orthology more info
involved_in vesicle-mediated transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle membrane	TAS Traceable Author Statement more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: TBC1 domain family member 4

Names: akt substrate of 160 kDa

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_001081278.3 → NP_001074747.2 TBC1 domain family member 4 isoform 3

Status: VALIDATED

Source sequence(s)

CT025630, CT573019, CT573033

Consensus CDS

CCDS49556.1

UniProtKB/TrEMBL

E9Q6Q8

Related

ENSMUSP00000125509.2, ENSMUST00000161991.8

Conserved Domains (5) summary

smart00164
Location:863 → 1077

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

smart00462
Location:31 → 190

PTB; Phosphotyrosine-binding domain, phosphotyrosine-interaction (PI) domain

cd01269
Location:193 → 444

PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain

pfam11830
Location:751 → 809

DUF3350; Domain of unknown function (DUF3350)

pfam13094
Location:1137 → 1215

CENP-Q; CENP-Q, a CENPA-CAD centromere complex subunit
NM_001404671.1 → NP_001391600.1 TBC1 domain family member 4 isoform 1

Status: VALIDATED

Source sequence(s)

CT025630, CT573019, CT573033
NM_001404672.1 → NP_001391601.1 TBC1 domain family member 4 isoform 2

Status: VALIDATED

Source sequence(s)

CT025630, CT573019, CT573033
NM_001404673.1 → NP_001391602.1 TBC1 domain family member 4 isoform 4

Status: VALIDATED

Source sequence(s)

CT025630, CT573019, CT573033
NM_001404674.1 → NP_001391603.1 TBC1 domain family member 4 isoform 5

Status: VALIDATED

Source sequence(s)

CT573019, CT573033

Related

ENSMUSP00000124511.2, ENSMUST00000159951.8

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_000080.7 Reference GRCm39 C57BL/6J

Range

101679800..101846717 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006518763.4 → XP_006518826.1 TBC1 domain family member 4 isoform X7

Conserved Domains (5) summary

smart00164
Location:864 → 1078

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

smart00462
Location:31 → 190

PTB; Phosphotyrosine-binding domain, phosphotyrosine-interaction (PI) domain

PTZ00440
Location:1078 → 1209

PTZ00440; reticulocyte binding protein 2-like protein; Provisional

cd01269
Location:193 → 444

PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain

pfam11830
Location:751 → 809

DUF3350; Domain of unknown function (DUF3350)
XM_017315935.2 → XP_017171424.1 TBC1 domain family member 4 isoform X5

Conserved Domains (5) summary

smart00164
Location:872 → 1086

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

smart00462
Location:31 → 190

PTB; Phosphotyrosine-binding domain, phosphotyrosine-interaction (PI) domain

PTZ00440
Location:1086 → 1217

PTZ00440; reticulocyte binding protein 2-like protein; Provisional

cd01269
Location:193 → 444

PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain

pfam11830
Location:759 → 817

DUF3350; Domain of unknown function (DUF3350)
XM_006518761.4 → XP_006518824.1 TBC1 domain family member 4 isoform X3

Conserved Domains (5) summary

smart00164
Location:919 → 1133

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

smart00462
Location:31 → 190

PTB; Phosphotyrosine-binding domain, phosphotyrosine-interaction (PI) domain

PTZ00440
Location:1133 → 1264

PTZ00440; reticulocyte binding protein 2-like protein; Provisional

cd01269
Location:193 → 444

PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain

pfam11830
Location:806 → 864

DUF3350; Domain of unknown function (DUF3350)
XM_006518760.4 → XP_006518823.1 TBC1 domain family member 4 isoform X2

UniProtKB/TrEMBL

E0CX53

Related

ENSMUSP00000124909.2, ENSMUST00000162617.8

Conserved Domains (5) summary

smart00164
Location:926 → 1140

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

smart00462
Location:31 → 190

PTB; Phosphotyrosine-binding domain, phosphotyrosine-interaction (PI) domain

PTZ00440
Location:1140 → 1271

PTZ00440; reticulocyte binding protein 2-like protein; Provisional

cd01269
Location:193 → 444

PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain

pfam11830
Location:814 → 872

DUF3350; Domain of unknown function (DUF3350)
XM_006518759.4 → XP_006518822.1 TBC1 domain family member 4 isoform X1

See identical proteins and their annotated locations for XP_006518822.1

UniProtKB/Swiss-Prot

Q149C0, Q149C1, Q3T9E8, Q3TAQ5, Q5DU23, Q66JU2, Q6P2M2, Q8BMH6, Q8BXM2, Q8BYJ6

Conserved Domains (5) summary

smart00164
Location:927 → 1141

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

smart00462
Location:31 → 190

PTB; Phosphotyrosine-binding domain, phosphotyrosine-interaction (PI) domain

PTZ00440
Location:1141 → 1272

PTZ00440; reticulocyte binding protein 2-like protein; Provisional

cd01269
Location:193 → 444

PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain

pfam11830
Location:814 → 872

DUF3350; Domain of unknown function (DUF3350)
XM_017315937.3 → XP_017171426.1 TBC1 domain family member 4 isoform X9

UniProtKB/TrEMBL

F6SUV7

Conserved Domains (4) summary

smart00164
Location:772 → 986

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

PTZ00440
Location:986 → 1117

PTZ00440; reticulocyte binding protein 2-like protein; Provisional

cd01269
Location:38 → 289

PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain

pfam11830
Location:659 → 717

DUF3350; Domain of unknown function (DUF3350)
XM_030247707.2 → XP_030103567.1 TBC1 domain family member 4 isoform X10

UniProtKB/TrEMBL

F6SUV7

Conserved Domains (4) summary

smart00164
Location:709 → 923

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

PTZ00440
Location:923 → 1054

PTZ00440; reticulocyte binding protein 2-like protein; Provisional

cd01269
Location:38 → 289

PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain

pfam11830
Location:596 → 654

DUF3350; Domain of unknown function (DUF3350)
XM_006518767.2 → XP_006518830.1 TBC1 domain family member 4 isoform X13

Conserved Domains (3) summary

smart00164
Location:245 → 459

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

PTZ00440
Location:459 → 590

PTZ00440; reticulocyte binding protein 2-like protein; Provisional

pfam11830
Location:132 → 190

DUF3350; Domain of unknown function (DUF3350)
XM_017315938.1 → XP_017171427.1 TBC1 domain family member 4 isoform X14

Related

ENSMUST00000161304.2

Conserved Domains (2) summary

smart00164
Location:11 → 225

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

PTZ00440
Location:225 → 356

PTZ00440; reticulocyte binding protein 2-like protein; Provisional
XM_006518764.5 → XP_006518827.1 TBC1 domain family member 4 isoform X8

Conserved Domains (4) summary

smart00164
Location:927 → 1141

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

smart00462
Location:31 → 190

PTB; Phosphotyrosine-binding domain, phosphotyrosine-interaction (PI) domain

cd01269
Location:193 → 444

PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain

pfam11830
Location:814 → 872

DUF3350; Domain of unknown function (DUF3350)
XM_011245002.3 → XP_011243304.1 TBC1 domain family member 4 isoform X11

See identical proteins and their annotated locations for XP_011243304.1

UniProtKB/TrEMBL

H7BX82

Related

ENSMUSP00000097913.4, ENSMUST00000100340.4

Conserved Domains (3) summary

smart00462
Location:31 → 190

PTB; Phosphotyrosine-binding domain, phosphotyrosine-interaction (PI) domain

cd01269
Location:193 → 444

PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain

pfam11830
Location:751 → 809

DUF3350; Domain of unknown function (DUF3350)
XM_006518766.5 → XP_006518829.1 TBC1 domain family member 4 isoform X12

UniProtKB/TrEMBL

H7BX82

Conserved Domains (2) summary

smart00462
Location:31 → 190

PTB; Phosphotyrosine-binding domain, phosphotyrosine-interaction (PI) domain

cd01269
Location:193 → 444

PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain

RNA

XR_001781101.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_173380.1: Suppressed sequence

Description

NM_173380.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.