ADGRB1 adhesion G protein-coupled receptor B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADGRB1provided by HGNC
Official Full Name: adhesion G protein-coupled receptor B1provided by HGNC
Primary source: HGNC:HGNC:943
See related: Ensembl:ENSG00000181790 MIM:602682; AllianceGenome:HGNC:943
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BAI1; GDAIF
Summary: Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential for growth and metastasis of solid tumors. In order to obtain blood supply for their growth, tumor cells are potently angiogenic and attract new vessels as results of increased secretion of inducers and decreased production of endogenous negative regulators. BAI1 contains at least one 'functional' p53-binding site within an intron, and its expression has been shown to be induced by wildtype p53. There are two other brain-specific angiogenesis inhibitor genes, designated BAI2 and BAI3 which along with BAI1 have similar tissue specificities and structures, however only BAI1 is transcriptionally regulated by p53. BAI1 is postulated to be a member of the secretin receptor family, an inhibitor of angiogenesis and a growth suppressor of glioblastomas [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 8.6), spleen (RPKM 1.3) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.3

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (142449649..142545007)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (143591907..143688308)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (143531010..143626368)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Maternal exposure to atmospheric PM2.5 and fetal brain development: Associations with BAI1 methylation and thyroid hormones.
Title: Maternal exposure to atmospheric PM(2.5) and fetal brain development: Associations with BAI1 methylation and thyroid hormones.
BAI1 nuclear expression reflects the survival of nonsmoking non-small cell lung cancer patients.
Title: BAI1 nuclear expression reflects the survival of nonsmoking non-small cell lung cancer patients.
BAI1 as a Prognostic Marker of Clear Cell Renal Cell Carcinoma (ccRCC).
Title: BAI1 as a Prognostic Marker of Clear Cell Renal Cell Carcinoma (ccRCC).
BAI1 acts as a tumor suppressor in lung cancer A549 cells by inducing metabolic reprogramming via the SCD1/HMGCR module.
Title: BAI1 acts as a tumor suppressor in lung cancer A549 cells by inducing metabolic reprogramming via the SCD1/HMGCR module.
EZH2 targeting reduces medulloblastoma growth through epigenetic reactivation of the BAI1/p53 tumor suppressor pathway.
Title: EZH2 targeting reduces medulloblastoma growth through epigenetic reactivation of the BAI1/p53 tumor suppressor pathway.
Brain-specific angiogenesis inhibitor 1 is expressed in the Myo/Nog cell lineage.
Title: Brain-specific angiogenesis inhibitor 1 is expressed in the Myo/Nog cell lineage.
Brain-specific angiogenesis inhibitor 1 (BAI1) prevents proto-oncogene Protein c-mdm2 (Mdm2)-mediated tumor supressor p53 (p53) polyubiquitination, and its loss substantially reduces p53 levels.
Title: BAI1 Suppresses Medulloblastoma Formation by Protecting p53 from Mdm2-Mediated Degradation.
We have uncovered a new role for BAI1 in facilitating macrophage anti-viral responses. We show that arming oHSV with antiangiogenic Vstat120 also shields them from inflammatory macrophage antiviral response, without reducing safety
Title: BAI1 Orchestrates Macrophage Inflammatory Response to HSV Infection-Implications for Oncolytic Viral Therapy.
Data suggest agonist-induced signal transduction via either BAI1/ADGRB1 or GPR56/ADGRG1 does not require conserved membrane-proximal stalk region; thus, it appears GAIN domain cleavage via autoproteolysis is not necessary for receptor activation.
Title: Stalk-dependent and Stalk-independent Signaling by the Adhesion G Protein-coupled Receptors GPR56 (ADGRG1) and BAI1 (ADGRB1).
BAI1 may be involved in the negative regulation of bladder transitional cell carcinoma microvascular proliferation, and its expression may be associated with a reduction in p53 mutations.
Title: Expression of brain‑specific angiogenesis inhibitor‑1 and association with p53, microvessel density and vascular endothelial growth factor in the tissue of human bladder transitional cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	LRRK2 kinase inhibition suppresses HIV-1 Tat-induced upregulation of phosphatidylserine receptor BAI1 in microglia cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Orthologs from Annotation Pipeline: 430 organisms have orthologs with human gene ADGRB1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables G protein-coupled receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables PDZ domain binding	IEA Inferred from Electronic Annotation more info
enables lipopolysaccharide binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylserine binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in apoptotic cell clearance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axonogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in cell surface receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in defense response to Gram-negative bacterium	ISS Inferred from Sequence or Structural Similarity more info
involved_in engulfment of apoptotic cell	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in engulfment of apoptotic cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in engulfment of apoptotic cell	ISS Inferred from Sequence or Structural Similarity more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in muscle organ development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of endothelial cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in peripheral nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in phagocytosis, recognition	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of myoblast fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of reactive oxygen species biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of synapse assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic plasticity	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cell-cell junction	TAS Traceable Author Statement more info	PubMed
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in focal adhesion	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic cup	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in postsynaptic density	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in postsynaptic density	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: adhesion G protein-coupled receptor B1

Names: brain-specific angiogenesis inhibitor 1

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_001391985.1 → NP_001378914.1 adhesion G protein-coupled receptor B1 isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AC139676

Consensus CDS

CCDS94349.1

UniProtKB/TrEMBL

A0A2R8Y5M7

Related

ENSP00000494563.1, ENST00000643448.1

Conserved Domains (6) summary

smart00303
Location:877 → 935

GPS; G-protein-coupled receptor proteolytic site domain

smart00008
Location:574 → 640

HormR; Domain present in hormone receptors

smart00209
Location:412 → 462

TSP1; Thrombospondin type 1 repeats

cd15990
Location:938 → 1204

7tmB2_BAI1; brain-specific angiogenesis inhibitor 1, a group VII adhesion GPCR, member of the class B2 family of seven-transmembrane G protein-coupled receptors

pfam16489
Location:658 → 856

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

pfam19188
Location:41 → 216

AGRB_N; Adhesion GPCR B N-terminal region
NM_001391986.1 → NP_001378915.1 adhesion G protein-coupled receptor B1 isoform 3 precursor

Status: REVIEWED

Source sequence(s)

AC139676

Conserved Domains (6) summary

smart00303
Location:880 → 938

GPS; G-protein-coupled receptor proteolytic site domain

smart00008
Location:577 → 643

HormR; Domain present in hormone receptors

smart00209
Location:412 → 462

TSP1; Thrombospondin type 1 repeats

cd15990
Location:941 → 1201

7tmB2_BAI1; brain-specific angiogenesis inhibitor 1, a group VII adhesion GPCR, member of the class B2 family of seven-transmembrane G protein-coupled receptors

pfam16489
Location:661 → 859

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

pfam19188
Location:41 → 216

AGRB_N; Adhesion GPCR B N-terminal region
NM_001391987.1 → NP_001378916.1 adhesion G protein-coupled receptor B1 isoform 4

Status: REVIEWED

Source sequence(s)

AC139676

Conserved Domains (1) summary

cd15990
Location:1 → 267

7tmB2_BAI1; brain-specific angiogenesis inhibitor 1, a group VII adhesion GPCR, member of the class B2 family of seven-transmembrane G protein-coupled receptors
NM_001391988.1 → NP_001378917.1 adhesion G protein-coupled receptor B1 isoform 5

Status: REVIEWED

Source sequence(s)

AC139676

Conserved Domains (1) summary

cd15990
Location:1 → 267

7tmB2_BAI1; brain-specific angiogenesis inhibitor 1, a group VII adhesion GPCR, member of the class B2 family of seven-transmembrane G protein-coupled receptors
NM_001702.3 → NP_001693.2 adhesion G protein-coupled receptor B1 isoform 1 precursor

See identical proteins and their annotated locations for NP_001693.2

Status: REVIEWED

Source sequence(s)

AC139676

Consensus CDS

CCDS64985.1

UniProtKB/Swiss-Prot

O14514

Related

ENSP00000430945.1, ENST00000517894.6

Conserved Domains (5) summary

smart00303
Location:880 → 938

GPS; G-protein-coupled receptor proteolytic site domain

smart00008
Location:577 → 643

HormR; Domain present in hormone receptors

smart00209
Location:412 → 462

TSP1; Thrombospondin type 1 repeats

pfam00002
Location:944 → 1180

7tm_2; 7 transmembrane receptor (Secretin family)

pfam16489
Location:662 → 857

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

142449649..142545007

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017013695.2 → XP_016869184.1 adhesion G protein-coupled receptor B1 isoform X6
XM_047422057.1 → XP_047278013.1 adhesion G protein-coupled receptor B1 isoform X7
XM_017013691.2 → XP_016869180.1 adhesion G protein-coupled receptor B1 isoform X1
XM_017013692.2 → XP_016869181.1 adhesion G protein-coupled receptor B1 isoform X2
XM_017013696.2 → XP_016869185.1 adhesion G protein-coupled receptor B1 isoform X8
XM_047422059.1 → XP_047278015.1 adhesion G protein-coupled receptor B1 isoform X10
XM_017013694.2 → XP_016869183.1 adhesion G protein-coupled receptor B1 isoform X4
XM_047422056.1 → XP_047278012.1 adhesion G protein-coupled receptor B1 isoform X5
XM_047422060.1 → XP_047278016.1 adhesion G protein-coupled receptor B1 isoform X12
XM_047422058.1 → XP_047278014.1 adhesion G protein-coupled receptor B1 isoform X9
XM_047422061.1 → XP_047278017.1 adhesion G protein-coupled receptor B1 isoform X13
XM_017013693.2 → XP_016869182.1 adhesion G protein-coupled receptor B1 isoform X3
XM_017013697.2 → XP_016869186.1 adhesion G protein-coupled receptor B1 isoform X11
XM_011517202.3 → XP_011515504.1 adhesion G protein-coupled receptor B1 isoform X14

Related

ENSP00000427783.1, ENST00000521208.5

Conserved Domains (5) summary

smart00303
Location:880 → 938

GPS; G-protein-coupled receptor proteolytic site domain

smart00008
Location:577 → 643

HormR; Domain present in hormone receptors

smart00209
Location:412 → 462

TSP1; Thrombospondin type 1 repeats

pfam16489
Location:662 → 857

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

cl21561
Location:944 → 1139

7tm_4; Olfactory receptor

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

143591907..143688308

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054360930.1 → XP_054216905.1 adhesion G protein-coupled receptor B1 isoform X6
XM_054360931.1 → XP_054216906.1 adhesion G protein-coupled receptor B1 isoform X7
XM_054360925.1 → XP_054216900.1 adhesion G protein-coupled receptor B1 isoform X1
XM_054360926.1 → XP_054216901.1 adhesion G protein-coupled receptor B1 isoform X2
XM_054360932.1 → XP_054216907.1 adhesion G protein-coupled receptor B1 isoform X8
XM_054360934.1 → XP_054216909.1 adhesion G protein-coupled receptor B1 isoform X10
XM_054360928.1 → XP_054216903.1 adhesion G protein-coupled receptor B1 isoform X4
XM_054360929.1 → XP_054216904.1 adhesion G protein-coupled receptor B1 isoform X5
XM_054360936.1 → XP_054216911.1 adhesion G protein-coupled receptor B1 isoform X12
XM_054360933.1 → XP_054216908.1 adhesion G protein-coupled receptor B1 isoform X9
XM_054360937.1 → XP_054216912.1 adhesion G protein-coupled receptor B1 isoform X13
XM_054360927.1 → XP_054216902.1 adhesion G protein-coupled receptor B1 isoform X3
XM_054360935.1 → XP_054216910.1 adhesion G protein-coupled receptor B1 isoform X11
XM_054360938.1 → XP_054216913.1 adhesion G protein-coupled receptor B1 isoform X14