OR5AL1

Summary

OR5AL1 (olfactory receptor family 5 subfamily AL member 1 (gene/pseudogene), HGNC:14844) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 5AL1 (P0C617). Odorant receptor.

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. 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.

Source: NCBI Gene 79482 — RefSeq curated summary.

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14844
Approved symbol	OR5AL1
Name	olfactory receptor family 5 subfamily AL member 1 (gene/pseudogene)
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000272987
Ensembl biotype	protein_coding
Entrez	79482

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding_LoF

ENST00000440231

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000440231 — 1 exons

Exon	Start	End
ENSE00001732221	56412696	56413680

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 37.20.

Top tissues by expression

132 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.24	gold quality
monocyte	CL:0000576	28.36	silver quality
leukocyte	CL:0000738	28.29	silver quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
blood	UBERON:0000178	25.94	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
muscle of leg	UBERON:0001383	24.74	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
pancreas	UBERON:0001264	23.89	gold quality
frontal cortex	UBERON:0001870	23.88	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.82

Regulation

Is transcription factor: no

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or5al1	ENSMUSG00000075202
mus_musculus	Or5al6	ENSMUSG00000075203
mus_musculus	Or5al5	ENSMUSG00000075204
rattus_norvegicus	Or5al1	ENSRNOG00000083005
rattus_norvegicus	Or5al5b	ENSRNOG00000087695

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), OR5AU1 (ENSG00000169327), OR9K2 (ENSG00000170605), OR8B12 (ENSG00000170953), OR10H3 (ENSG00000171936), OR8I2 (ENSG00000172154), OR8U1 (ENSG00000172199), OR10V1 (ENSG00000172289), OR5A1 (ENSG00000172320), OR5A2 (ENSG00000172324), OR5B12 (ENSG00000172362), OR5B2 (ENSG00000172365), OR9I1 (ENSG00000172377), OR9G4 (ENSG00000172457), OR5AR1 (ENSG00000172459), OR5AP2 (ENSG00000172464), OR8J1 (ENSG00000172487), OR5B3 (ENSG00000172769), OR10W1 (ENSG00000172772), OR5M3 (ENSG00000174937), OR5J2 (ENSG00000174957), OR10H4 (ENSG00000176231), OR5AN1 (ENSG00000176495), OR14C36 (ENSG00000177174), OR6B3 (ENSG00000178586), OR10Q1 (ENSG00000180475), OR8G2P (ENSG00000181214), OR5AK2 (ENSG00000181273), OR5AK3P (ENSG00000181282), OR5M8 (ENSG00000181371), OR8D4 (ENSG00000181518), OR8H1 (ENSG00000181693), OR8K5 (ENSG00000181752), OR8H3 (ENSG00000181761)

Protein

Protein identifiers

Olfactory receptor 5AL1 — P0C617 (reviewed: P0C617)

Alternative names: Olfactory receptor OR11-184

All UniProt accessions (0):

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Polymorphism. A double nucleotide deletion, introducing a frameshift at position 157 of the protein, results in an early stop codon producing a pseudogene in a minority of the population.

Similarity. Belongs to the G-protein coupled receptor 1 family.

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain

Pfam: PF13853

UniProt features (18 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0C617-F1	79.69	0.36

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (1): 113–205

Glycosylation sites (1): 21

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381753	Olfactory Signaling Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 15 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, chr11q12, GOBP_NERVOUS_SYSTEM_PROCESS

GO Biological Process (0):

GO Molecular Function (2): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984)

GO Cellular Component (1): plasma membrane (GO:0005886)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Sensory Perception	1
Olfactory Signaling Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transmembrane signaling receptor activity	2
G protein-coupled receptor signaling pathway	1
detection of chemical stimulus involved in sensory perception of smell	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6NDH6, A6NDL8, A6NF89, A6NHG9, A6NIJ9, A6NJZ3, A6NKK0, A6NM76, P0C617, P0DN80, P34983, P37067, P37069, Q60884, Q60886, Q7TR96, Q8N162, Q8NGE1, Q8NGE2, Q8NGF7, Q8NGG5, Q8NGI8, Q8NGL4, Q8NGQ3, Q8NGS5, Q8NGV6, Q8NGV7, Q8NH89, Q8NH90, Q8NH92, Q8NH93, Q8NHB8, Q8NHC7, Q8VEW2, Q8VEW6, Q8VEX6, Q8VF12, Q8VF13, Q8VFB9, Q8VFD1

Diamond homologs: A6NCV1, A6NDL8, A6NF89, A6NIJ9, A6NJZ3, A6NL08, A6NL26, A6NM76, O76000, O95007, O95221, P0C617, P0C626, P0C7N1, P0C7N5, P23267, P23269, P23272, P23273, P23274, P30955, P34984, P34985, P34986, P58173, P70526, Q15620, Q5TZ20, Q60880, Q60882, Q60890, Q60893, Q6UXT6, Q7TQQ0, Q8N146, Q8N148, Q8N162, Q8N628, Q8NGC5, Q8NGC7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

156 predictions. Top by Δscore:

Variant	Effect	Δscore
11:56412841:T:TA	donor_gain	0.9800
11:56412842:A:AA	donor_gain	0.9800
11:56412768:GT:G	donor_gain	0.9400
11:56412799:A:G	donor_gain	0.9300
11:56412755:C:T	donor_gain	0.8600
11:56413155:A:AG	acceptor_gain	0.7600
11:56413156:G:GG	acceptor_gain	0.7600
11:56412720:G:GT	donor_gain	0.7100
11:56412774:GAATT:G	donor_gain	0.6700
11:56413151:TCCTA:T	acceptor_loss	0.6300
11:56413152:CCTA:C	acceptor_loss	0.6300
11:56413153:CTAG:C	acceptor_loss	0.6300
11:56413154:TAGAA:T	acceptor_loss	0.6300
11:56413155:AGAAA:A	acceptor_loss	0.6300
11:56413156:G:GA	acceptor_loss	0.6300
11:56413156:GA:G	acceptor_gain	0.6300
11:56412775:A:T	donor_gain	0.6000
11:56413156:GAA:G	acceptor_gain	0.6000
11:56413156:GAAA:G	acceptor_gain	0.5900
11:56412869:T:G	donor_gain	0.5800
11:56413395:T:TA	acceptor_gain	0.5700
11:56413410:T:TA	acceptor_gain	0.5700
11:56412833:A:G	donor_gain	0.5500
11:56413143:A:AG	acceptor_gain	0.5400
11:56413156:GAAAA:G	acceptor_gain	0.5400
11:56412868:A:AG	donor_gain	0.5300
11:56412769:T:G	donor_gain	0.5200
11:56412994:A:G	donor_gain	0.5200
11:56413138:A:AG	acceptor_loss	0.5200
11:56412843:G:GG	donor_gain	0.5100

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000676698 (11:56410858 C>T), RS1002446399 (11:56412519 C>A), RS1003694825 (11:56411251 G>A), RS1003708269 (11:56411890 T>G), RS1004534646 (11:56410955 G>A), RS1005717475 (11:56413805 A>G,T), RS1006223617 (11:56414208 C>T), RS1006542029 (11:56413514 T>C,G), RS1009008275 (11:56412645 C>A,T), RS1009580333 (11:56411608 G>A,C), RS1009674985 (11:56411918 C>T), RS1009789382 (11:56412634 C>A,T), RS1010253973 (11:56412347 T>C), RS1011349663 (11:56410666 A>G), RS1012395390 (11:56412878 G>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.