ADRA1B adrenoceptor alpha 1B [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADRA1Bprovided by HGNC
Official Full Name: adrenoceptor alpha 1Bprovided by HGNC
Primary source: HGNC:HGNC:278
See related: Ensembl:ENSG00000170214 MIM:104220; AllianceGenome:HGNC:278
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: ADRA1; ALPHA1BAR
Summary: Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region. [provided by RefSeq, Jul 2008]
Expression: Biased expression in spleen (RPKM 2.0), brain (RPKM 1.2) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q33.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (159865086..159989205)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (160393464..160517778)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (159343489..159400019)

Chromosome 5 - NC_000005.10 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?

L-DOPA Receptor GPR143 Functionally Couples with Adrenergic alpha1B Receptor at the Second Transmembrane Interface.
Title: L-DOPA Receptor GPR143 Functionally Couples with Adrenergic α(1B) Receptor at the Second Transmembrane Interface.
PKC-isoform specific regulation of receptor desensitization and KCNQ1/KCNE1 K(+) channel activity by mutant alpha1B-adrenergic receptors.
Title: PKC-isoform specific regulation of receptor desensitization and KCNQ1/KCNE1 K(+) channel activity by mutant α(1B)-adrenergic receptors.
Tumor necrosis factor alpha induces alpha1B-adrenergic receptor expression in keratinocytes.
Title: Tumor necrosis factor α induces α(1B)-adrenergic receptor expression in keratinocytes.
Characterization of heteromeric complexes between chemokine (C-X-C motif) receptor 4 and alpha1-adrenergic receptors utilizing intermolecular bioluminescence resonance energy transfer assays.
Title: Characterization of heteromeric complexes between chemokine (C-X-C motif) receptor 4 and α(1)-adrenergic receptors utilizing intermolecular bioluminescence resonance energy transfer assays.
Study data indicate that GRK2 and RAB5 play key roles in alpha1B-adrenergic receptor phosphorylation, internalization, and desensitization. The possibility that RAB5 might form part of a signaling complex is suggested, as well as that GDP-Rab5 might interfere with the ability of GRK2 to catalyze alpha1B-adrenergic receptor phosphorylation.
Title: Roles of the G protein-coupled receptor kinase 2 and Rab5 in α(1B)-adrenergic receptor function and internalization.
The association of variants in the ADRA1B gene with psoriasis could explain why variants in the IL-12B, ADRA1B and PTTG1 gene regions are associated with psoriasis.
Title: Fine mapping and subphenotyping implicates ADRA1B gene variants in psoriasis susceptibility in a Chinese population.
Mutations in the NPxxY motif stabilize pharmacologically distinct conformational states of the alpha1B- and beta2-adrenoceptors.
Title: Mutations in the NPxxY motif stabilize pharmacologically distinct conformational states of the α(1B)- and β(2)-adrenoceptors.
ADRA1 expression was greater on vascular smooth muscle in burn scars than in unscarred tissue, and greater on dermal nerve fibres, blood vessels and fibroblasts in keloid scars than in either burn scars or unscarred skin.
Title: Up-regulation of α(1)-adrenoceptors in burn and keloid scars.
Hetero-oligomerization of a1B/D-adrenergic receptor with the chemokine (C-X-C motif) receptor 4:atypical chemokine receptor 3 heteromeric complex is required for a1B/Dadrenergic receptor function.
Title: α(1)-Adrenergic Receptors Function Within Hetero-Oligomeric Complexes With Atypical Chemokine Receptor 3 and Chemokine (C-X-C motif) Receptor 4 in Vascular Smooth Muscle Cells.
ADRA1B rs10070745 was significantly associated with vasoconstrictor responses.
Title: Genetic variation in the alpha(1B)-adrenergic receptor and vascular response.

Submit: New GeneRIF Correction See all GeneRIFs (49)

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

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies new susceptibility loci for migraine. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC150908P1 (e-PCR)
- UniSTS:271116

NoName (e-PCR)
- UniSTS:481056

RH69212 (e-PCR)
- UniSTS:48178

NoName (e-PCR)
- UniSTS:482384

NoName (e-PCR)
- UniSTS:494505

D5S2442 (e-PCR)
- UniSTS:31726

SHGC-142517 (e-PCR)
- UniSTS:171503

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha1-adrenergic receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay 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 adrenergic receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in neuron-glial cell signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cardiac muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in caveola	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: alpha-1B adrenergic receptor

Names: adrenergic, alpha-1B-, receptor; alpha-1B adrenoceptor; alpha-1B adrenoreceptor

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_000679.4 → NP_000670.1 alpha-1B adrenergic receptor

See identical proteins and their annotated locations for NP_000670.1

Status: REVIEWED

Source sequence(s)

AC011343, AC068657, BQ576306, U03865

Consensus CDS

CCDS4347.1

UniProtKB/Swiss-Prot

B0LPE1, P35368

Related

ENSP00000306662.3, ENST00000306675.5

Conserved Domains (2) summary

pfam00001
Location:62 → 348

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:56 → 363

7tm_4; Olfactory receptor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

159865086..159989205

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047416776.1 → XP_047272732.1 alpha-1B adrenergic receptor isoform X1
XM_011534435.2 → XP_011532737.1 alpha-1B adrenergic receptor isoform X1

Conserved Domains (2) summary

pfam00001
Location:62 → 384

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:57 → 181

7tm_4; Olfactory receptor
XM_006714821.4 → XP_006714884.1 alpha-1B adrenergic receptor isoform X5

Conserved Domains (2) summary

pfam00001
Location:62 → 324

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:57 → 181

7tm_4; Olfactory receptor
XM_005265819.3 → XP_005265876.1 alpha-1B adrenergic receptor isoform X6

Conserved Domains (2) summary

pfam00001
Location:62 → 314

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:57 → 181

7tm_4; Olfactory receptor
XM_011534437.3 → XP_011532739.1 alpha-1B adrenergic receptor isoform X2

Conserved Domains (2) summary

pfam00001
Location:62 → 312

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:57 → 181

7tm_4; Olfactory receptor
XM_005265818.4 → XP_005265875.1 alpha-1B adrenergic receptor isoform X4

Conserved Domains (2) summary

pfam00001
Location:62 → 318

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:57 → 181

7tm_4; Olfactory receptor
XM_011534438.3 → XP_011532740.1 alpha-1B adrenergic receptor isoform X3

Conserved Domains (2) summary

pfam00001
Location:62 → 312

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:57 → 181

7tm_4; Olfactory receptor