OR1B1 olfactory receptor family 1 subfamily B member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OR1B1provided by HGNC
Official Full Name: olfactory receptor family 1 subfamily B member 1provided by HGNC
Primary source: HGNC:HGNC:8181
See related: Ensembl:ENSG00000280094 AllianceGenome:HGNC:8181
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OR9-B; OR9-26
Summary: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
Annotation information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 9q33.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (122628125..122657627, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (134825455..134854952, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (125390348..125419905, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Observational study of gene-disease association. (HuGE Navigator)
Title: Common null variant, Arg192Stop, in a G-protein coupled receptor, olfactory receptor 1B1, associated with decreased serum cholinesterase activity.

Submit: New GeneRIF Correction

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)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IEA Inferred from Electronic Annotation more info
enables olfactory receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in detection of chemical stimulus involved in sensory perception of smell	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: olfactory receptor 1B1

Names: olfactory receptor 9-B; olfactory receptor OR9-26

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_001004450.3 → NP_001004450.2 olfactory receptor 1B1

Status: VALIDATED

Description

Transcript Variant: This variant (1, coding) represents the protein-coding allele encoded by the GRCh38 reference genome.

Source sequence(s)

AL162254

UniProtKB/Swiss-Prot

Q6IFN3, Q8NGR6

UniProtKB/TrEMBL

A0A9L9PY52

Related

ENSP00000485577.2, ENST00000623530.2

Conserved Domains (1) summary

cd15235
Location:25 → 306

7tmA_OR1A-like; olfactory receptor subfamily 1A and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001409693.1 → NP_001396622.1 olfactory receptor 1B1

Status: VALIDATED

Description

Transcript Variant: This variant 2, coding) represents the protein-coding allele encoded by the GRCh38 reference genome.

Source sequence(s)

AL162254

UniProtKB/Swiss-Prot

Q6IFN3, Q8NGR6

UniProtKB/TrEMBL

A0A9L9PY52

Related

ENSP00000516726.1, ENST00000707075.1

RNA

NR_178052.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (1, non-coding) uses the same exon combination as variant 1, coding but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. This variant is represented as non-coding because a frameshift in the N-terminus results in a premature stop codon.

Source sequence(s)

CP068269
NR_178053.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2, non-coding) uses the same exon combination as variant 2, coding but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. This variant is represented as non-coding because a frameshift in the N-terminus results in a premature stop codon.

Source sequence(s)

CP068269