OLFML1

Summary

OLFML1 (olfactomedin like 1, HGNC:24473) is a protein-coding gene on chromosome 11p15.4, encoding Olfactomedin-like protein 1 (Q6UWY5).

Predicted to be involved in signal transduction. Predicted to be located in extracellular region. Predicted to be active in extracellular space.

Source: NCBI Gene 283298 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 27 total
• MANE Select transcript: NM_198474

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24473
Approved symbol	OLFML1
Name	olfactomedin like 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	UNQ564, ONT2
Ensembl gene	ENSG00000183801
Ensembl biotype	protein_coding
Entrez	283298

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron

ENST00000329293, ENST00000528308, ENST00000528758, ENST00000530135, ENST00000534244, ENST00000870571, ENST00000870572

RefSeq mRNA: 5 — MANE Select: NM_198474 NM_001370498, NM_001370499, NM_001370500, NM_001370501, NM_198474

CCDS: CCDS7779

Canonical transcript exons

ENST00000329293 — 3 exons

Exon	Start	End
ENSE00001290449	7488127	7488415
ENSE00001313301	7509398	7511377
ENSE00002174912	7485506	7486004

Expression profiles

Bgee: expression breadth ubiquitous, 223 present calls, max score 91.34.

FANTOM5 (CAGE): breadth broad, TPM avg 2.8854 / max 183.7172, expressed in 503 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112895	2.2089	448
112900	0.2846	135
112894	0.1643	79
112898	0.0865	39
112899	0.0746	37
206175	0.0360	12
112896	0.0167	4
112897	0.0138	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parietal pleura	UBERON:0002400	91.34	gold quality
skin of hip	UBERON:0001554	90.50	gold quality
right ovary	UBERON:0002118	90.30	gold quality
gall bladder	UBERON:0002110	89.96	gold quality
left ovary	UBERON:0002119	89.61	gold quality
right coronary artery	UBERON:0001625	88.83	gold quality
ovary	UBERON:0000992	88.58	gold quality
pleura	UBERON:0000977	88.38	gold quality
germinal epithelium of ovary	UBERON:0001304	88.20	gold quality
vena cava	UBERON:0004087	86.06	silver quality
synovial joint	UBERON:0002217	85.69	gold quality
left uterine tube	UBERON:0001303	85.60	gold quality
omental fat pad	UBERON:0010414	85.41	gold quality
peritoneum	UBERON:0002358	85.40	gold quality
adipose tissue of abdominal region	UBERON:0007808	85.20	gold quality
calcaneal tendon	UBERON:0003701	85.15	gold quality
descending thoracic aorta	UBERON:0002345	84.80	gold quality
endocervix	UBERON:0000458	84.63	gold quality
coronary artery	UBERON:0001621	84.36	gold quality
left coronary artery	UBERON:0001626	84.32	gold quality
ectocervix	UBERON:0012249	84.22	gold quality
urethra	UBERON:0000057	84.14	gold quality
saphenous vein	UBERON:0007318	84.06	gold quality
body of uterus	UBERON:0009853	84.01	gold quality
mucosa of stomach	UBERON:0001199	83.96	gold quality
mammalian vulva	UBERON:0000997	83.44	gold quality
visceral pleura	UBERON:0002401	83.38	gold quality
upper lobe of left lung	UBERON:0008952	83.37	gold quality
layer of synovial tissue	UBERON:0007616	83.30	gold quality
ascending aorta	UBERON:0001496	83.17	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

78 targeting OLFML1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-516B-5P	99.56	66.33	1495

Literature-anchored findings (GeneRIF, showing 2)

• These findings suggest that hOLFML1 may play a significant role in the regulation of cell proliferation in vitro. (PMID:18708057)
• mutation of OLFML1 leads to impaired osteoblast differentiation and abnormal development of bone tissue (PMID:30266405)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Olfml1	ENSMUSG00000051041
rattus_norvegicus	Olfml1	ENSRNOG00000056562

Paralogs (9): MYOC (ENSG00000034971), OLFM4 (ENSG00000102837), OLFM2 (ENSG00000105088), OLFML3 (ENSG00000116774), OLFM3 (ENSG00000118733), OLFM1 (ENSG00000130558), OLFML2B (ENSG00000162745), OLFML2A (ENSG00000185585), GLDN (ENSG00000186417)

Protein

Protein identifiers

Olfactomedin-like protein 1 — Q6UWY5 (reviewed: Q6UWY5)

All UniProt accessions (3): E9PKN7, E9PN44, Q6UWY5

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Tissue specificity. Mainly expressed in the small intestine, liver, lung and heart.

Post-translational modifications. Highly N-glycosylated.

RefSeq proteins (5): NP_001357427, NP_001357428, NP_001357429, NP_001357430, NP_940876* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003112	Olfac-like_dom	Domain
IPR050605	Olfactomedin-like_domain	Family

Pfam: PF02191

UniProt features (10 total): glycosylation site 3, sequence variant 2, signal peptide 1, chain 1, domain 1, coiled-coil region 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UWY5-F1	88.94	0.72

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): 141–324

Glycosylation sites (3): 66, 138, 183

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 76 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, AP4_Q6, CAGCTG_AP4_Q5, MCLACHLAN_DENTAL_CARIES_DN, BROWNE_HCMV_INFECTION_24HR_DN, IK3_01, PITX2_Q2, TGGAAA_NFAT_Q4_01, SCHUETZ_BREAST_CANCER_DUCTAL_INVASIVE_UP, STAT5A_01, BOQUEST_STEM_CELL_UP, MIKKELSEN_MEF_LCP_WITH_H3K4ME3, RP58_01, CCTNTMAGA_UNKNOWN

GO Biological Process (1): signal transduction (GO:0007165)

GO Molecular Function (0):

GO Cellular Component (2): obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cellular anatomical structure	1

Protein interactions and networks

STRING

494 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OLFML1	ATOH8	Q96SQ7	443
OLFML1	KCNE4	Q8WWG9	442
OLFML1	ADCY4	Q8NFM4	418
OLFML1	SRPX2	O60687	416
OLFML1	CTXN1	P60606	412
OLFML1	SH2D5	Q6ZV89	394
OLFML1	CCDC150	Q8NCX0	389
OLFML1	S1PR2	O95136	382
OLFML1	C17orf67	Q0P5P2	381
OLFML1	CDHR5	Q9HBB8	379
OLFML1	OR10A3	P58181	371
OLFML1	OVCH2	Q7RTZ1	370
OLFML1	TMEM168	Q9H0V1	365
OLFML1	DKK2	Q9UBU2	364
OLFML1	FAM180A	Q6UWF9	360

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A2A699, A2BD09, A4IIT5, A5D7T4, A6QLD2, A8MVW0, O35764, O43278, O70624, O95502, O95897, P35054, P51693, Q03157, Q2PT31, Q3UPI1, Q3UZZ4, Q3V1G4, Q568Y7, Q594P2, Q5QQ37, Q66H86, Q68BL7, Q68BL8, Q6AYE5, Q6P7B4, Q6UWH4, Q6UWY5, Q6ZMI3, Q701R2, Q701R3, Q701R4, Q766D5, Q76KP1, Q80WL1, Q863A3, Q866N2, Q86VZ4, Q8BHP7, Q8BM13

Diamond homologs: A2BD09, A4IIT5, A6QLD2, B0BNI5, B5MFE9, O70624, O88917, O88923, O88998, O94910, O95490, O95897, O97817, O97827, O97831, P63056, P63057, Q0P3W2, Q0V9V5, Q0VCP3, Q25C36, Q2PT31, Q3UZZ4, Q3V1G4, Q568Y7, Q594P2, Q62609, Q66H86, Q68BL7, Q68BL8, Q6UWY5, Q6UX06, Q80TR1, Q80TS3, Q863A3, Q866N2, Q8BHP7, Q8BK62, Q8BM13, Q8JZZ7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

354 predictions. Top by Δscore:

Variant	Effect	Δscore
11:7486003:AGG:A	donor_loss	1.0000
11:7486004:GGTA:G	donor_loss	1.0000
11:7486005:G:GA	donor_loss	1.0000
11:7488416:G:GG	donor_gain	1.0000
11:7486001:GGAG:G	donor_gain	0.9900
11:7486002:GAG:G	donor_gain	0.9900
11:7486002:GAGG:G	donor_gain	0.9900
11:7488118:T:A	acceptor_gain	0.9900
11:7488122:T:A	acceptor_gain	0.9900
11:7488126:GCAA:G	acceptor_gain	0.9900
11:7488209:T:A	acceptor_gain	0.9900
11:7488412:GCAA:G	donor_gain	0.9900
11:7509397:GGCT:G	acceptor_gain	0.9900
11:7486005:G:GG	donor_gain	0.9800
11:7488125:A:AG	acceptor_gain	0.9800
11:7488126:G:GG	acceptor_gain	0.9800
11:7488413:CAAGT:C	donor_loss	0.9800
11:7488414:AAGT:A	donor_loss	0.9800
11:7488415:AG:A	donor_loss	0.9800
11:7488416:G:GA	donor_loss	0.9800
11:7488417:T:G	donor_loss	0.9800
11:7509391:T:TA	acceptor_gain	0.9800
11:7509396:A:AG	acceptor_gain	0.9800
11:7509397:G:GG	acceptor_gain	0.9800
11:7488124:AAG:A	acceptor_loss	0.9700
11:7488126:G:GA	acceptor_loss	0.9700
11:7488314:G:GC	acceptor_gain	0.9700
11:7488413:C:T	donor_gain	0.9700
11:7509387:T:TA	acceptor_gain	0.9700
11:7485473:G:GT	donor_gain	0.9600

AlphaMissense

2633 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:7509817:T:A	W280R	0.994
11:7509817:T:C	W280R	0.994
11:7509819:G:C	W280C	0.994
11:7509819:G:T	W280C	0.994
11:7509469:T:A	W164R	0.992
11:7509469:T:C	W164R	0.992
11:7510123:G:C	A382P	0.991
11:7509471:G:C	W164C	0.990
11:7509471:G:T	W164C	0.990
11:7510118:T:A	L380H	0.990
11:7509544:T:C	F189L	0.989
11:7509546:T:A	F189L	0.989
11:7509546:T:G	F189L	0.989
11:7510118:T:C	L380P	0.989
11:7509820:G:C	A281P	0.988
11:7509803:A:T	D275V	0.987
11:7509913:T:A	C312S	0.987
11:7509913:T:C	C312R	0.987
11:7509914:G:C	C312S	0.987
11:7509941:T:C	F321S	0.987
11:7509903:G:C	W308C	0.984
11:7509903:G:T	W308C	0.984
11:7509940:T:C	F321L	0.983
11:7509942:C:A	F321L	0.983
11:7509942:C:G	F321L	0.983
11:7510150:T:G	Y391D	0.983
11:7510061:T:G	F361C	0.981
11:7510118:T:G	L380R	0.981
11:7510124:C:A	A382D	0.981
11:7509616:T:A	W213R	0.980

dbSNP variants (sampled 300 via entrez): RS1000244523 (11:7500911 A>C), RS1000412057 (11:7491936 A>C), RS1000526057 (11:7511015 C>T), RS1000535892 (11:7511257 C>T), RS1000598683 (11:7500595 G>A), RS1000831569 (11:7497739 T>G), RS1000986095 (11:7491728 C>T), RS1000993079 (11:7484558 T>C), RS1001068210 (11:7504326 G>A), RS1001131884 (11:7497477 G>A), RS1001185646 (11:7494056 G>T), RS1001318041 (11:7487736 C>T), RS1001354147 (11:7486744 T>C), RS1001520403 (11:7504694 A>T), RS1001621158 (11:7503442 T>G)

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

6 associations (top):

Study	Trait	p-value
GCST006998_6	Cerebrospinal fluid p-tau levels in mild cognitive impairment	4.000000e-07
GCST007676_6	3-month functional outcome in ischaemic stroke (modified Rankin score)	4.000000e-06
GCST009391_74	Metabolite levels	5.000000e-06
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004760	t-tau measurement
EFO:0009603	stroke outcome severity measurement
EFO:0009767	glycine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

37 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	4
Benzo(a)pyrene	affects methylation, decreases expression, increases mutagenesis	3
mercuric bromide	increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
bisphenol F	affects cotreatment, increases expression	1
bisphenol A	affects cotreatment, increases expression	1
kojic acid	decreases expression	1
terbufos	increases methylation	1
hydroxyhydroquinone	decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sulforaphane	decreases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
incobotulinumtoxinA	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arbutin	decreases expression	1
Arsenic	affects methylation	1
Calcitriol	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	increases expression	1
Doxorubicin	decreases expression	1
Fonofos	increases methylation	1
Estradiol	affects cotreatment, decreases expression	1
Folic Acid	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Nickel	decreases expression	1
Parathion	increases methylation	1
Progesterone	affects cotreatment, decreases expression	1
Quercetin	decreases expression	1

Clinical trials (associated diseases)

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