Tbc1d1 MGI Mouse Gene Detail - MGI:1889508 - TBC1 domain family, member 1

Symbol

Tbc1d1
Name

TBC1 domain family, member 1
Synonyms

1110062G02Rik, mKIAA1108, Nob1, Nobq1

Feature Type

protein coding gene
IDs

MGI:1889508
NCBI Gene: 57915
Alliance

gene page
Transcription Start Sites

21 TSS

Sequence Map

Chr5:64313648-64508829 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 32.80 cM
Mapping Data

6 experiments

SNPs within 2kb

5585 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1889508	protein coding gene	Chr5:64313648-64508829 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0029566	protein coding gene	Chr5:63731455-63937476 (+)
A/J	MGP_AJ_G0029534	protein coding gene	Chr5:61355618-61564918 (+)
AKR/J	MGP_AKRJ_G0029482	protein coding gene	Chr5:63274509-63480885 (+)
BALB/cJ	MGP_BALBcJ_G0029543	protein coding gene	Chr5:62035269-62236453 (+)
C3H/HeJ	MGP_C3HHeJ_G0029266	protein coding gene	Chr5:63641465-63846746 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029997	protein coding gene	Chr5:66373674-66582941 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027237	protein coding gene	Chr5:57455789-57670568 (+)
CAST/EiJ	MGP_CASTEiJ_G0028674	protein coding gene	Chr5:62710580-62920547 (+)
CBA/J	MGP_CBAJ_G0029235	protein coding gene	Chr5:68502236-68728171 (+)
DBA/2J	MGP_DBA2J_G0029381	protein coding gene	Chr5:61385174-61584459 (+)
FVB/NJ	MGP_FVBNJ_G0029341	protein coding gene	Chr5:60562143-60764208 (+)
LP/J	MGP_LPJ_G0029466	protein coding gene	Chr5:64192667-64397638 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029369	protein coding gene	Chr5:71423587-71648016 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030030	protein coding gene	Chr5:62966693-63174108 (+)
PWK/PhJ	MGP_PWKPhJ_G0028398	protein coding gene	Chr5:60355146-60557654 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0028232	protein coding gene	Chr5:62313528-62519504 (+)
WSB/EiJ	MGP_WSBEiJ_G0028755	protein coding gene	Chr5:63180812-63389377 (+)

Human Ortholog

TBC1D1, TBC1 domain family member 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TBC1D1, TBC1 domain family member 1
Synonyms

TBC, TBC1
Links

HGNC:11578

NCBI Gene ID: 23216

neXtProt AC: NX_Q86TI0

UniProt: Q86TI0
Chr Location

4p14; chr4:37891084-38139175 (+) GRCh38

MGI Vertebrate Homology

Tbc1d1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TBC1D1
Gene Tree

Tbc1d1

less

Phenotype Summary

15 phenotypes from 4 alleles in 4 genetic backgrounds
1 phenotype from multigenic genotypes
44 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

47
Chemically induced (other)

2
Endonuclease-mediated

2
Gene trapped

34
QTL

1
Radiation induced

1
Spontaneous

2
Targeted

5
Genomic Mutations

4 involving Tbc1d1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

80 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozgyous for a targeted mutation that removes exon 4 exhibit no adverse phenotype. Mice homozygous for a gene trap allele exhibit decreased body weight, resistance to diet-induced obesity, increased fat oxidization and decreased glucose uptake in the muscle.

less

All GO Annotations

9
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

less

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

771
Tissues

39
cDNA Data

140
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tbc1d1

less

All Sequences

90
RefSeq

24
UniProt

8
CCDS

CCDS39094.1, CCDS71593.1, CCDS80287.1

Ensembl

ENSMUSG00000029174 (Evidence)
NCBI Gene

57915

			Length	Strain/Species	Flank
genomic	57915	NCBI Gene Model \| MGI Sequence Detail	195182	C57BL/6J	± kb
transcript	NM_001310611	RefSeq \| MGI Sequence Detail	5662	ZRU/MplStud
polypeptide	Q60949	UniProt \| EBI \| MGI Sequence Detail	1255	Not Applicable

less

UniProt

8 Sequences
Protein Ontology

PR:000016093 TBC1 domain family member 1

(term hierarchy)
InterPro Domains

IPR051133 Adapter and Engulfment Domain-Containing Protein

IPR021785 Domain of unknown function DUF3350

IPR011993 PH-like domain superfamily

IPR006020 PTB/PI domain

IPR000195 Rab-GAP-TBC domain

IPR035969 Rab-GAP-TBC domain superfamily

IPR050302 Rab GTPase-activating TBC domain-containing protein

less

All nucleic 141

cDNA 140

Other 1

Microarray probesets 6

less

MGI:1916097, MGI:1930242, MGI:2140852, MGI:2141236

Summaries

All 95

Developmental Gene Expression 3

Gene Ontology 6

Phenotypes 44
Earliest

J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Tbc1d1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr46376	Chr5:64313858-64313876 (+)	219 bp
Tssr46377	Chr5:64313878-64313896 (+)	239 bp
Tssr46378	Chr5:64316772-64316786 (+)	3,131 bp
Tssr46379	Chr5:64317392-64317403 (+)	3,750 bp
Tssr46380	Chr5:64317550-64317563 (+)	3,909 bp
Tssr46381	Chr5:64317570-64317613 (+)	3,944 bp
Tssr46382	Chr5:64317614-64317639 (+)	3,979 bp
Tssr46383	Chr5:64378252-64378259 (+)	64,608 bp
Tssr46384	Chr5:64387628-64387655 (+)	73,994 bp
Tssr46385	Chr5:64387668-64387689 (+)	74,031 bp
Tssr46386	Chr5:64387697-64387719 (+)	74,060 bp
Tssr46387	Chr5:64387720-64387731 (+)	74,078 bp
Tssr46388	Chr5:64387739-64387795 (+)	74,119 bp
Tssr46389	Chr5:64387811-64387822 (+)	74,169 bp
Tssr46390	Chr5:64387960-64387962 (+)	74,313 bp
Tssr46391	Chr5:64395302-64395307 (+)	81,657 bp
Tssr46392	Chr5:64421552-64421563 (+)	107,910 bp
Tssr46393	Chr5:64421568-64421597 (+)	107,935 bp
Tssr1487	Chr5:64421636-64421645 (+)	107,993 bp
Tssr46394	Chr5:64421659-64421713 (+)	108,038 bp
Tssr46395	Chr5:64421716-64421725 (+)	108,073 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24