Bak1 MGI Mouse Gene Detail - MGI:1097161 - BCL2-antagonist/killer 1

Symbol

Bak1
Name

BCL2-antagonist/killer 1
Synonyms

Bak, N-Bak

Feature Type

protein coding gene
IDs

MGI:1097161
NCBI Gene: 12018
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr17:27238786-27247601 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 13.65 cM, cytoband B
Mapping Data

2 experiments

SNPs within 2kb

345 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1097161	protein coding gene	Chr17:27238784-27247983 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0023415	protein coding gene	Chr17:26256674-26269623 (-)
A/J	MGP_AJ_G0023372	protein coding gene	Chr17:25450705-25459868 (-)
AKR/J	MGP_AKRJ_G0023338	protein coding gene	Chr17:25590984-25600190 (-)
BALB/cJ	MGP_BALBcJ_G0023377	protein coding gene	Chr17:25703866-25713375 (-)
C3H/HeJ	MGP_C3HHeJ_G0023138	protein coding gene	Chr17:25969491-25978457 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0023820	protein coding gene	Chr17:27360683-27371210 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021294	protein coding gene	Chr17:22867450-22876899 (-)
CAST/EiJ	MGP_CASTEiJ_G0022639	protein coding gene	Chr17:25894382-25903562 (-)
CBA/J	MGP_CBAJ_G0023112	protein coding gene	Chr17:28309594-28320655 (-)
DBA/2J	MGP_DBA2J_G0023244	protein coding gene	Chr17:25015016-25023889 (-)
FVB/NJ	MGP_FVBNJ_G0023213	protein coding gene	Chr17:24801073-24810231 (-)
LP/J	MGP_LPJ_G0023321	protein coding gene	Chr17:26506799-26515939 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023231	protein coding gene	Chr17:27832721-27845407 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023861	protein coding gene	Chr17:25959856-25972843 (-)
PWK/PhJ	MGP_PWKPhJ_G0022389	protein coding gene	Chr17:23814821-23824543 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0022207	protein coding gene	Chr17:24002303-24011542 (-)
WSB/EiJ	MGP_WSBEiJ_G0022702	protein coding gene	Chr17:25986389-25997942 (-)

Human Ortholog

BAK1, BCL2 antagonist/killer 1

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

BAK1, BCL2 antagonist/killer 1
Synonyms

BAK, BAK-LIKE, BCL2L7, CDN1
Links

HGNC:949

NCBI Gene ID: 578

neXtProt AC: NX_Q16611

UniProt: Q16611
Chr Location

6p21.31; chr6:33572547-33580293 (-) GRCh38

MGI Vertebrate Homology

Bak1 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: BAK1
Gene Tree

Bak1

Diseases

2 with human BAK1 associations

				Human Disease	Mouse Models
				ataxia telangiectasia IDs ataxia telangiectasia DOID:12704 MESH:D001260 NCI:C2887 OMIM:208900 UMLS_CUI:C0004135
				cervix carcinoma IDs cervix carcinoma DOID:2893 NCI:C9039 UMLS_CUI:C0302592

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

3 phenotypes from 1 allele in 2 genetic backgrounds
51 phenotypes from multigenic genotypes
180 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

15
Endonuclease-mediated

2
Gene trapped

9
Radiation induced

2
Targeted

2
Genomic Mutations

2 involving Bak1
Incidental Mutations

Mutagenetix
Find Mice (IMSR)

25 strains or lines available

Homozygous mutation of this gene does not result in a phenotype.

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All GO Annotations

129
GO References

34

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

819
Tissues

83
cDNA Data

56
Literature Summary

28

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase bak1

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All Sequences

45
RefSeq

3
UniProt

4
CCDS

CCDS28558.1

Ensembl

ENSMUSG00000057789 (Evidence)
NCBI Gene

12018

			Length	Strain/Species	Flank
genomic	12018	NCBI Gene Model \| MGI Sequence Detail	8816	C57BL/6J	± kb
transcript	NR_149749	RefSeq \| MGI Sequence Detail	2038	C57BL/6
polypeptide	O08734	UniProt \| EBI \| MGI Sequence Detail	209	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000002185 Bcl-2 homologous antagonist/killer

(term hierarchy)
PDB

2VOH, 5FMJ, 5KTG, 6MCY
InterPro Domains

IPR020717 Apoptosis regulator, Bcl-2, BH1 motif, conserved site

IPR020726 Apoptosis regulator, Bcl-2, BH2 motif, conserved site

IPR020728 Apoptosis regulator, Bcl-2, BH3 motif, conserved site

IPR046371 Bcl-2, Bcl-2 homology region 1-3

IPR026298 Bcl-2 family

IPR002475 Bcl2-like

IPR036834 Bcl-2-like superfamily

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All nucleic 66

Genomic 1

cDNA 56

Primer pair 7

Other 2

Microarray probesets 4

Summaries

All 308

Developmental Gene Expression 28

Gene Ontology 34

Phenotypes 180
Earliest

J:43660 Chittenden T, et al., A conserved domain in Bak, distinct from BH1 and BH2, mediates cell death and protein binding functions. EMBO J. 1995 Nov 15;14(22):5589-96
Latest

J:348953 Bouman BJ, et al., Single-cell time series analysis reveals the dynamics of HSPC response to inflammation. Life Sci Alliance. 2024 Mar;7(3)

TSS for Bak1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr146996	Chr17:27247889-27247906 (-)	-297 bp
Tssr146995	Chr17:27247594-27247605 (-)	1 bp
Tssr146994	Chr17:27247584-27247589 (-)	14 bp
Tssr146993	Chr17:27247508-27247580 (-)	57 bp
Tssr146992	Chr17:27247491-27247502 (-)	104 bp
Tssr146991	Chr17:27240246-27240278 (-)	7,339 bp
Tssr146990	Chr17:27240204-27240241 (-)	7,378 bp
Tssr146989	Chr17:27239804-27239845 (-)	7,776 bp
Tssr146988	Chr17:27239629-27239656 (-)	7,958 bp
Tssr146987	Chr17:27239597-27239617 (-)	7,994 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 12/10/2024 MGI 6.24