Tmbim1 MGI Mouse Gene Detail - MGI:1916910 - transmembrane BAX inhibitor motif containing 1

Symbol

Tmbim1
Name

transmembrane BAX inhibitor motif containing 1
Synonyms

2310061B02Rik

Feature Type

protein coding gene
IDs

MGI:1916910
NCBI Gene: 69660
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr1:74327406-74343495 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 38.53 cM
Mapping Data

2 experiments

SNPs within 2kb

403 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916910	protein coding gene	Chr1:74327406-74344781 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016147	protein coding gene	Chr1:74876192-74893251 (-)
A/J	MGP_AJ_G0016130	protein coding gene	Chr1:72255761-72273083 (-)
AKR/J	MGP_AKRJ_G0016087	protein coding gene	Chr1:74268631-74285974 (-)
BALB/cJ	MGP_BALBcJ_G0016085	protein coding gene	Chr1:72328426-72345657 (-)
C3H/HeJ	MGP_C3HHeJ_G0015916	protein coding gene	Chr1:74596802-74614108 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0016538	protein coding gene	Chr1:77783665-77806226 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014259	protein coding gene	Chr1:67840235-67857862 (-)
CAST/EiJ	MGP_CASTEiJ_G0015500	protein coding gene	Chr1:73910681-73929902 (-)
CBA/J	MGP_CBAJ_G0015889	protein coding gene	Chr1:80307685-80325065 (-)
DBA/2J	MGP_DBA2J_G0015990	protein coding gene	Chr1:71592405-71609678 (-)
FVB/NJ	MGP_FVBNJ_G0015993	protein coding gene	Chr1:70766216-70783576 (-)
LP/J	MGP_LPJ_G0016062	protein coding gene	Chr1:75981517-75998834 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016013	protein coding gene	Chr1:83728243-83746735 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016585	protein coding gene	Chr1:74325641-74343522 (-)
PWK/PhJ	MGP_PWKPhJ_G0015287	protein coding gene	Chr1:71035928-71054159 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015065	protein coding gene	Chr1:73690976-73708249 (-)
WSB/EiJ	MGP_WSBEiJ_G0015562	protein coding gene	Chr1:74128328-74145720 (-)

Human Ortholog

TMBIM1, transmembrane BAX inhibitor motif containing 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TMBIM1, transmembrane BAX inhibitor motif containing 1
Synonyms

LFG3, MST100, MSTP100, PP1201, RECS1
Links

HGNC:23410

NCBI Gene ID: 64114

neXtProt AC: NX_Q969X1

UniProt: Q969X1
Chr Location

2q35; chr2:218274197-218292586 (-) GRCh38

MGI Vertebrate Homology

Tmbim1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TMBIM1
Gene Tree

Tmbim1

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Phenotype Summary

5 phenotypes from 1 allele in 1 genetic background
17 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

14
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

7
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Tmbim1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit susceptibility to cystic medial degeneration without inflammation or change in blood pressure and are prone to aortic dilation with age.

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All GO Annotations

25
GO References

4

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.

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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

718
Tissues

4
cDNA Data

16
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tmbim1

ZFIN tmbim1a

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All Sequences

69
RefSeq

2
UniProt

8
CCDS

CCDS15044.1

Ensembl

ENSMUSG00000006301 (Evidence)
NCBI Gene

69660

			Length	Strain/Species	Flank
genomic	69660	NCBI Gene Model \| MGI Sequence Detail	16090	C57BL/6J	± kb
transcript	NM_027154	RefSeq \| MGI Sequence Detail	2325	C57BL/6
polypeptide	Q8BJZ3	UniProt \| EBI \| MGI Sequence Detail	309	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000029594 protein lifeguard 3

(term hierarchy)
InterPro Domains

IPR006214 Bax inhibitor 1-related

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All nucleic 16

cDNA 16

Microarray probesets 3

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MGI:2138482, MGI:2138674, MGI:2146371

Summaries

All 41

Developmental Gene Expression 1

Gene Ontology 4

Phenotypes 17
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:316803 Zhao GN, et al., TMBIM1 is an inhibitor of adipogenesis and its depletion promotes adipocyte hyperplasia and improves obesity-related metabolic disease. Cell Metab. 2021 Aug 3;33(8):1640-1654.e8

TSS for Tmbim1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr12304	Chr1:74344766-74344780 (-)	-1,278 bp
Tssr12303	Chr1:74343545-74343566 (-)	-61 bp
Tssr12302	Chr1:74343504-74343536 (-)	-25 bp
Tssr12301	Chr1:74343472-74343502 (-)	8 bp
Tssr12300	Chr1:74343350-74343361 (-)	139 bp
Tssr12299	Chr1:74343305-74343346 (-)	169 bp
Tssr12298	Chr1:74343096-74343137 (-)	378 bp
Tssr12297	Chr1:74334944-74334953 (-)	8,546 bp
Tssr12296	Chr1:74334477-74334563 (-)	8,975 bp
Tssr12295	Chr1:74334440-74334461 (-)	9,044 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 11/12/2024 MGI 6.24