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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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OLFM1
olfactomedin 1
Chromosome 9 · 9q34.3
NCBI Gene: 10439Ensembl: ENSG00000130558.21HGNC: HGNC:17187UniProt: Q6IMJ7
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of apoptotic processsignal transductionpositive regulation of gene expressionAbnormality of the skeletal systemsmoking initiationobesitymathematical ability
✦AI Summary

OLFM1 (olfactomedin 1) is a secreted glycoprotein with multifaceted roles in nervous system development and function. Structurally, OLFM1 forms disulfide-linked tetramers with a distinctive V-shaped architecture stabilized by calcium, with C-terminal β-propeller domains that contain calcium binding sites 1. Functionally, OLFM1 promotes axonal growth by binding to the Nogo A receptor (NgR1) complex and inhibiting its interaction with coreceptors p75NTR and LINGO-1, thereby preventing NgR1-mediated growth cone collapse 2. It also modulates Wnt signaling to regulate retinal axon extension and eye development 3. Beyond the nervous system, OLFM1 regulates epithelial-mesenchymal transition (EMT) by promoting cell invasion during heart valve formation, cooperating with TGFβ signaling 4. OLFM1 deficiency impairs female fertility primarily through defective olfaction, affecting the accessory olfactory bulb's response to pheromones and subsequently disrupting reproductive hormone signaling 5. Clinically, reduced serum OLFM1 correlates with Alzheimer's disease severity, cognitive decline, and hippocampal/angular gyrus atrophy, particularly in APOE ε4 carriers, positioning it as a potential peripheral biomarker 6. Additionally, decreased plasma OLFM1 associates with poor survival outcomes in systemic sclerosis-associated pulmonary hypertension 7.

Sources cited
1
OLFM1 forms disulfide-linked tetramers with V-shaped architecture and calcium-stabilized structure
PMID: 25903135
2
OLFM1 binds NgR1 and inhibits its interaction with p75NTR/LINGO-1 to promote axon growth
PMID: 22923615
3
OLFM1 regulates retinal axon elongation and functions as a modulator of Wnt signaling
PMID: 18667622
4
OLFM1 promotes cell invasion during EMT in heart valve formation, cooperating with TGFβ
PMID: 23264563
5
OLFM1 deficiency impairs female fertility through defective olfaction and accessory olfactory bulb dysfunction
PMID: 26107991
6
Reduced serum OLFM1 correlates with Alzheimer's disease, cognitive decline, and brain atrophy
PMID: 40221403
7
Decreased plasma OLFM1 associates with poor survival in systemic sclerosis-associated pulmonary hypertension
PMID: 37936223
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.46Moderate
smoking initiationOpen Targets
0.45Moderate
obesityOpen Targets
0.44Moderate
mathematical abilityOpen Targets
0.40Moderate
post-traumatic stress disorderOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
attention deficit hyperactivity disorderOpen Targets
0.34Weak
smoking behaviorOpen Targets
0.33Weak
substance abuseOpen Targets
0.33Weak
leukemiaOpen Targets
0.29Weak
overnutritionOpen Targets
0.28Weak
BlindnessOpen Targets
0.27Weak
temporomandibular joint disorderOpen Targets
0.20Weak
poisoningOpen Targets
0.11Weak
response to xenobiotic stimulusOpen Targets
0.11Weak
idiopathic pulmonary fibrosisOpen Targets
0.10Weak
cholelithiasisOpen Targets
0.10Weak
gangreneOpen Targets
0.09Suggestive
Nijmegen breakage syndromeOpen Targets
0.06Suggestive
primary ovarian insufficiencyOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TENM4Protein interaction87%EHMT1Protein interaction82%CACNA1BProtein interaction79%RTN4RProtein interaction74%WASF1Protein interaction71%PAWRShared pathway20%
Tissue Expression6 tissues
Brain
100%
Ovary
12%
Heart
7%
Lung
5%
Liver
2%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
OLFM1TENM4EHMT1CACNA1BRTN4RWASF1PAWR
PROTEIN STRUCTURE
Preparing viewer…
PDB6QHJ · 1.25 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.33Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.11–0.33]
RankingsWhere OLFM1 stands among ~20K protein-coding genes
  • #11,023of 20,598
    Most Researched35
  • #1,365of 17,882
    Most Constrained (LOEUF)0.33 · top 10%
Genes detectedOLFM1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Design and structural characterisation of olfactomedin-1 variants as tools for functional studies.
PMID: 31726976
BMC Mol Cell Biol · 2019
1.00
2
Olfactomedin-1 activity identifies a cell invasion checkpoint during epithelial-mesenchymal transition in the chick embryonic heart.
PMID: 23264563
Dis Model Mech · 2013
0.90
3
Proteomic biomarkers for survival in systemic sclerosis-associated pulmonary hypertension.
PMID: 37936223
Respir Res · 2023
0.80
4
Correlation of peripheral olfactomedin 1 with Alzheimer's disease and cognitive functions.
PMID: 40221403
Transl Psychiatry · 2025
0.70
5
Olfactomedin 1 Deficiency Leads to Defective Olfaction and Impaired Female Fertility.
PMID: 26107991
Endocrinology · 2015
0.60