Gabbr1 MGI Mouse Gene Detail - MGI:1860139 - gamma-aminobutyric acid (GABA) B receptor, 1

Symbol

Gabbr1
Name

gamma-aminobutyric acid (GABA) B receptor, 1
Synonyms

GABAB1, GABAbR1

Feature Type

protein coding gene
IDs

MGI:1860139
NCBI Gene: 54393
Gene Overview

MyGene.info: GABBR1
Alliance

gene page
Transcription Start Sites

15 TSS

Sequence Map

Chr17:37045966-37074305 bp, + strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 19.16 cM
Mapping Data

5 experiments

Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1860139	protein coding gene	Chr17:37045966-37075067 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023695	protein coding gene	Chr17:37413706-37442750 (+)
A/J	MGP_AJ_G0023653	protein coding gene	Chr17:36229392-36262087 (+)
AKR/J	MGP_AKRJ_G0023624	protein coding gene	Chr17:36666627-36697092 (+)
BALB/cJ	MGP_BALBcJ_G0023660	protein coding gene	Chr17:36478117-36507163 (+)
C3H/HeJ	MGP_C3HHeJ_G0023422	protein coding gene	Chr17:37182895-37213780 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024098	protein coding gene	Chr17:39009625-39040725 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021566	protein coding gene	Chr17:34043403-34072784 (+)
CAST/EiJ	MGP_CASTEiJ_G0022907	protein coding gene	Chr17:37312516-37345353 (+)
CBA/J	MGP_CBAJ_G0023399	protein coding gene	Chr17:40545834-40576996 (+)
DBA/2J	MGP_DBA2J_G0023524	protein coding gene	Chr17:35620020-35649094 (+)
FVB/NJ	MGP_FVBNJ_G0023497	protein coding gene	Chr17:35232529-35262113 (+)
LP/J	MGP_LPJ_G0023602	protein coding gene	Chr17:37940331-37970555 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023520	protein coding gene	Chr17:39315953-39346471 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024143	protein coding gene	Chr17:37013333-37043209 (+)
PWK/PhJ	MGP_PWKPhJ_G0022659	protein coding gene	Chr17:34402119-34432366 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022478	protein coding gene	Chr17:35101999-35131072 (+)
WSB/EiJ	MGP_WSBEiJ_G0022974	protein coding gene	Chr17:37330613-37360147 (+)

Human Ortholog

GABBR1, gamma-aminobutyric acid type B receptor subunit 1

Vertebrate Orthologs

10

Human Ortholog

GABBR1, gamma-aminobutyric acid type B receptor subunit 1
Orthology source: HomoloGene, HGNC
Synonyms

GABABR1, GABBR1-3, GB1, GPRC3A
Links

HGNC:4070

NCBI Gene ID: 2550

neXtProt AC: NX_Q9UBS5

UniProt: Q9UBS5
Chr Location

6p22.1; chr6:29602228-29633135 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 1132
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;2 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: GABBR1
Protein SuperFamily

gamma-aminobutyric acid B receptor
Gene Tree

Gabbr1

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Phenotype Summary

56 phenotypes from 8 alleles in 9 genetic backgrounds
66 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

38
Gene trapped

27
Targeted

11
Genomic Mutations

1 involving Gabbr1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

55 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Phenotypes of null mice vary depending on strain background and allele. Homozygous null mice may display seizures, premature death, and abnormal nervous system electrophysiology.

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All GO Annotations

70
GO References

10

External Resources

FuncBase

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

1021
Tissues

163
cDNA Data

91
Literature Summary

15

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase gabbr1

ZFIN gabbr1a

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Gabbr1 interacts with 330 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

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All Sequences

63
RefSeq

9
UniProt

5
CCDS

CCDS37616.1
UniGene

32191

Ensembl

ENSMUSG00000024462 (Evidence)
NCBI Gene

54393 (Evidence)

			Length	Strain/Species	Flank
genomic	54393	NCBI Gene Model \| MGI Sequence Detail	28340	C57BL/6J	± kb
transcript	NM_019439	RefSeq \| MGI Sequence Detail	4486	C57BL/6
polypeptide	Q9WV18	UniProt \| EBI \| MGI Sequence Detail	960	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000007761 gamma-aminobutyric acid type B receptor subunit 1

(term hierarchy)
InterPro Domains

IPR000337 GPCR, family 3

IPR017978 GPCR family 3, C-terminal

IPR002455 GPCR family 3, GABA-B receptor

IPR028082 Periplasmic binding protein-like I

IPR001828 Receptor, ligand binding region

IPR000436 Sushi/SCR/CCP domain

IPR035976 Sushi/SCR/CCP superfamily

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All nucleic 95

Genomic 1

cDNA 92

Primer pair 2

Microarray probesets 4

Summaries

All 122

Developmental Gene Expression 15

Gene Ontology 10

Phenotypes 66
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:281311 Nakano Y, et al., Overlapping Activities of Two Neuronal Splicing Factors Switch the GABA Effect from Excitatory to Inhibitory by Regulating REST. Cell Rep. 2019 Apr 16;27(3):860-871.e8

TSS for Gabbr1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr144543	Chr17:37045810-37045819 (+)	-151 bp
Tssr144544	Chr17:37045963-37045975 (+)	3 bp
Tssr144545	Chr17:37045980-37046080 (+)	64 bp
Tssr144546	Chr17:37046094-37046135 (+)	149 bp
Tssr144547	Chr17:37046555-37046600 (+)	612 bp
Tssr144549	Chr17:37050128-37050141 (+)	4,169 bp
Tssr144550	Chr17:37050160-37050198 (+)	4,213 bp
Tssr144551	Chr17:37050604-37050615 (+)	4,644 bp
Tssr144552	Chr17:37050633-37050649 (+)	4,675 bp
Tssr144553	Chr17:37050796-37050806 (+)	4,835 bp
Tssr144554	Chr17:37050863-37050869 (+)	4,900 bp
Tssr144555	Chr17:37050937-37050950 (+)	4,978 bp
Tssr144556	Chr17:37050973-37050981 (+)	5,011 bp
Tssr144557	Chr17:37051049-37051062 (+)	5,090 bp
Tssr144561	Chr17:37062670-37062707 (+)	16,723 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 & Copyright Notice Send questions and comments to User Support.	last database update 05/19/2020 MGI 6.15