Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	94101
Gene name	ORMDL sphingolipid biosynthesis regulator 1
Gene symbol	ORMDL1
Synonyms (NCBI Gene)	-
Chromosome	2
Chromosome location	2q32.2

171

Show/Hide all (171)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048621	hsa-miR-99a-5p	CLASH	23622248
MIRT048523	hsa-miR-100-5p	CLASH	23622248
MIRT299860	hsa-miR-4495	PAR-CLIP	23592263
MIRT471750	hsa-miR-4290	PAR-CLIP	23592263
MIRT471749	hsa-miR-1291	PAR-CLIP	23592263
MIRT471748	hsa-miR-6775-3p	PAR-CLIP	23592263
MIRT471747	hsa-miR-6851-3p	PAR-CLIP	23592263
MIRT471746	hsa-miR-3682-5p	PAR-CLIP	23592263
MIRT471745	hsa-miR-328-3p	PAR-CLIP	23592263
MIRT445180	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT445179	hsa-miR-4804-3p	PAR-CLIP	22100165
MIRT445178	hsa-miR-4720-3p	PAR-CLIP	22100165
MIRT299860	hsa-miR-4495	PAR-CLIP	23592263
MIRT471750	hsa-miR-4290	PAR-CLIP	23592263
MIRT471749	hsa-miR-1291	PAR-CLIP	23592263
MIRT471748	hsa-miR-6775-3p	PAR-CLIP	23592263
MIRT471747	hsa-miR-6851-3p	PAR-CLIP	23592263
MIRT471746	hsa-miR-3682-5p	PAR-CLIP	23592263
MIRT471745	hsa-miR-328-3p	PAR-CLIP	23592263
MIRT445180	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT445179	hsa-miR-4804-3p	PAR-CLIP	22100165
MIRT445178	hsa-miR-4720-3p	PAR-CLIP	22100165
MIRT1205689	hsa-miR-105	CLIP-seq
MIRT1205690	hsa-miR-1305	CLIP-seq
MIRT1205691	hsa-miR-2116	CLIP-seq
MIRT1205692	hsa-miR-365	CLIP-seq
MIRT1205693	hsa-miR-3671	CLIP-seq
MIRT1205694	hsa-miR-4326	CLIP-seq
MIRT1205695	hsa-miR-4528	CLIP-seq
MIRT1205696	hsa-miR-4641	CLIP-seq
MIRT1205697	hsa-miR-4677-5p	CLIP-seq
MIRT1205698	hsa-miR-607	CLIP-seq
MIRT1205699	hsa-miR-664	CLIP-seq
MIRT1205700	hsa-miR-875-3p	CLIP-seq
MIRT1205701	hsa-miR-1208	CLIP-seq
MIRT1205702	hsa-miR-1252	CLIP-seq
MIRT1205703	hsa-miR-1264	CLIP-seq
MIRT1205704	hsa-miR-140-3p	CLIP-seq
MIRT1205705	hsa-miR-142-5p	CLIP-seq
MIRT1205706	hsa-miR-148a	CLIP-seq
MIRT1205707	hsa-miR-148b	CLIP-seq
MIRT1205708	hsa-miR-152	CLIP-seq
MIRT1205691	hsa-miR-2116	CLIP-seq
MIRT1205709	hsa-miR-216b	CLIP-seq
MIRT1205710	hsa-miR-23a	CLIP-seq
MIRT1205711	hsa-miR-23b	CLIP-seq
MIRT1205712	hsa-miR-23c	CLIP-seq
MIRT1205713	hsa-miR-299-5p	CLIP-seq
MIRT1205714	hsa-miR-328	CLIP-seq
MIRT1205715	hsa-miR-340	CLIP-seq
MIRT1205692	hsa-miR-365	CLIP-seq
MIRT1205716	hsa-miR-3976	CLIP-seq
MIRT1205717	hsa-miR-4452	CLIP-seq
MIRT1205695	hsa-miR-4528	CLIP-seq
MIRT1205718	hsa-miR-4637	CLIP-seq
MIRT1205696	hsa-miR-4641	CLIP-seq
MIRT1205719	hsa-miR-4664-3p	CLIP-seq
MIRT1205720	hsa-miR-4666-5p	CLIP-seq
MIRT1205697	hsa-miR-4677-5p	CLIP-seq
MIRT1205721	hsa-miR-4679	CLIP-seq
MIRT1205722	hsa-miR-4749-3p	CLIP-seq
MIRT1205723	hsa-miR-4762-5p	CLIP-seq
MIRT1205724	hsa-miR-502-5p	CLIP-seq
MIRT1205725	hsa-miR-520d-5p	CLIP-seq
MIRT1205726	hsa-miR-524-5p	CLIP-seq
MIRT1205727	hsa-miR-568	CLIP-seq
MIRT1205728	hsa-miR-600	CLIP-seq
MIRT1205729	hsa-miR-643	CLIP-seq
MIRT1205699	hsa-miR-664	CLIP-seq
MIRT1205730	hsa-miR-671-3p	CLIP-seq
MIRT1205700	hsa-miR-875-3p	CLIP-seq
MIRT1205702	hsa-miR-1252	CLIP-seq
MIRT2059283	hsa-miR-1323	CLIP-seq
MIRT2059284	hsa-miR-199a-3p	CLIP-seq
MIRT2059285	hsa-miR-199b-3p	CLIP-seq
MIRT2059286	hsa-miR-3129-5p	CLIP-seq
MIRT2059287	hsa-miR-3130-3p	CLIP-seq
MIRT1205714	hsa-miR-328	CLIP-seq
MIRT2059288	hsa-miR-3607-3p	CLIP-seq
MIRT2059289	hsa-miR-3686	CLIP-seq
MIRT2059290	hsa-miR-382	CLIP-seq
MIRT2059291	hsa-miR-4282	CLIP-seq
MIRT2059292	hsa-miR-4325	CLIP-seq
MIRT2059293	hsa-miR-4462	CLIP-seq
MIRT2059294	hsa-miR-4527	CLIP-seq
MIRT2059295	hsa-miR-4635	CLIP-seq
MIRT2059296	hsa-miR-4793-3p	CLIP-seq
MIRT2059297	hsa-miR-548o	CLIP-seq
MIRT1205698	hsa-miR-607	CLIP-seq
MIRT2059298	hsa-miR-618	CLIP-seq
MIRT2059299	hsa-miR-936	CLIP-seq
MIRT1205706	hsa-miR-148a	CLIP-seq
MIRT1205707	hsa-miR-148b	CLIP-seq
MIRT1205708	hsa-miR-152	CLIP-seq
MIRT1205710	hsa-miR-23a	CLIP-seq
MIRT1205711	hsa-miR-23b	CLIP-seq
MIRT1205712	hsa-miR-23c	CLIP-seq
MIRT2059288	hsa-miR-3607-3p	CLIP-seq
MIRT2287354	hsa-miR-3667-3p	CLIP-seq
MIRT2059289	hsa-miR-3686	CLIP-seq
MIRT2059290	hsa-miR-382	CLIP-seq
MIRT2059293	hsa-miR-4462	CLIP-seq
MIRT2059294	hsa-miR-4527	CLIP-seq
MIRT1205718	hsa-miR-4637	CLIP-seq
MIRT2287355	hsa-miR-483-3p	CLIP-seq
MIRT1205706	hsa-miR-148a	CLIP-seq
MIRT1205707	hsa-miR-148b	CLIP-seq
MIRT1205708	hsa-miR-152	CLIP-seq
MIRT2287354	hsa-miR-3667-3p	CLIP-seq
MIRT1205718	hsa-miR-4637	CLIP-seq
MIRT2287355	hsa-miR-483-3p	CLIP-seq
MIRT2585580	hsa-miR-1298	CLIP-seq
MIRT2059283	hsa-miR-1323	CLIP-seq
MIRT1205706	hsa-miR-148a	CLIP-seq
MIRT1205707	hsa-miR-148b	CLIP-seq
MIRT1205708	hsa-miR-152	CLIP-seq
MIRT2059284	hsa-miR-199a-3p	CLIP-seq
MIRT2059285	hsa-miR-199b-3p	CLIP-seq
MIRT2585581	hsa-miR-2355-3p	CLIP-seq
MIRT2059286	hsa-miR-3129-5p	CLIP-seq
MIRT2585582	hsa-miR-3200-5p	CLIP-seq
MIRT1205715	hsa-miR-340	CLIP-seq
MIRT2059288	hsa-miR-3607-3p	CLIP-seq
MIRT2287354	hsa-miR-3667-3p	CLIP-seq
MIRT2059289	hsa-miR-3686	CLIP-seq
MIRT2059290	hsa-miR-382	CLIP-seq
MIRT2059291	hsa-miR-4282	CLIP-seq
MIRT2585583	hsa-miR-4328	CLIP-seq
MIRT2059293	hsa-miR-4462	CLIP-seq
MIRT2059294	hsa-miR-4527	CLIP-seq
MIRT1205718	hsa-miR-4637	CLIP-seq
MIRT2585584	hsa-miR-4646-3p	CLIP-seq
MIRT2585585	hsa-miR-4652-3p	CLIP-seq
MIRT2585586	hsa-miR-4680-3p	CLIP-seq
MIRT2585587	hsa-miR-4724-5p	CLIP-seq
MIRT2585588	hsa-miR-4778-5p	CLIP-seq
MIRT2287355	hsa-miR-483-3p	CLIP-seq
MIRT2585589	hsa-miR-513a-3p	CLIP-seq
MIRT2059297	hsa-miR-548o	CLIP-seq
MIRT1205698	hsa-miR-607	CLIP-seq
MIRT2059298	hsa-miR-618	CLIP-seq
MIRT2059299	hsa-miR-936	CLIP-seq
MIRT1205701	hsa-miR-1208	CLIP-seq
MIRT2585580	hsa-miR-1298	CLIP-seq
MIRT1205706	hsa-miR-148a	CLIP-seq
MIRT1205707	hsa-miR-148b	CLIP-seq
MIRT1205708	hsa-miR-152	CLIP-seq
MIRT2059284	hsa-miR-199a-3p	CLIP-seq
MIRT2059285	hsa-miR-199b-3p	CLIP-seq
MIRT2686865	hsa-miR-2861	CLIP-seq
MIRT2059286	hsa-miR-3129-5p	CLIP-seq
MIRT2686866	hsa-miR-320e	CLIP-seq
MIRT1205715	hsa-miR-340	CLIP-seq
MIRT2059288	hsa-miR-3607-3p	CLIP-seq
MIRT2287354	hsa-miR-3667-3p	CLIP-seq
MIRT2059289	hsa-miR-3686	CLIP-seq
MIRT2059290	hsa-miR-382	CLIP-seq
MIRT2059291	hsa-miR-4282	CLIP-seq
MIRT2585583	hsa-miR-4328	CLIP-seq
MIRT2059293	hsa-miR-4462	CLIP-seq
MIRT2059294	hsa-miR-4527	CLIP-seq
MIRT1205718	hsa-miR-4637	CLIP-seq
MIRT2585585	hsa-miR-4652-3p	CLIP-seq
MIRT1205721	hsa-miR-4679	CLIP-seq
MIRT2686867	hsa-miR-4763-5p	CLIP-seq
MIRT2585588	hsa-miR-4778-5p	CLIP-seq
MIRT2287355	hsa-miR-483-3p	CLIP-seq
MIRT2686868	hsa-miR-596	CLIP-seq
MIRT2059298	hsa-miR-618	CLIP-seq
MIRT2059299	hsa-miR-936	CLIP-seq
MIRT2686869	hsa-miR-938	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	12093374
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0006672	Process	Ceramide metabolic process	IBA
GO:0006672	Process	Ceramide metabolic process	IMP	20182505
GO:0006686	Process	Sphingomyelin biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0017059	Component	Serine palmitoyltransferase complex	IBA
GO:0030148	Process	Sphingolipid biosynthetic process	IBA
GO:0042552	Process	Myelination	IEA
GO:0061744	Process	Motor behavior	IEA
GO:0090153	Process	Regulation of sphingolipid biosynthetic process	IEA
GO:0090156	Process	Intracellular sphingolipid homeostasis	IBA
GO:1900060	Process	Negative regulation of ceramide biosynthetic process	IMP	25691431
GO:2000303	Process	Regulation of ceramide biosynthetic process	IEA
GO:2000303	Process	Regulation of ceramide biosynthetic process	IEA

MIM	HGNC	e!Ensembl
610073	16036	ENSG00000128699

Q9P0S3

Protein name

ORM1-like protein 1 (Adoplin-1)

Protein function

Plays an essential role in the homeostatic regulation of sphingolipid de novo biosynthesis by modulating the activity of the serine palmitoyltransferase (SPT) in response to ceramide levels (PubMed:20182505). When complexed to SPT, the binding o

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04061	ORMDL	11 → 146	ORMDL family	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in adult and fetal heart, brain, lung, liver, skeletal muscle and kidney. Expressed in adult pancreas and placenta and in fetal spleen abd thymus. Expressed at intermediate level in pancreas, placenta and br

Sequence

MNVGVAHSEVNPNTRVMNSRGMWLTYALGVGLLHIVLLSIPFFSVPVAWTLTNIIHNLGM
YVFLHAVKGTPFETPDQGKARLLTHWEQLDYGVQFTSSRKFFTISPIILYFLASFYTKYD
PTHFILNTASLLSVLIPKMPQLHGVRIFGINKY

Sequence length

153

Interactions

View interactions

	Reactome
			Sphingolipid de novo biosynthesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthma	Asthma	BEFREE	26011647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	33145351	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ORMDL1 (ORMDL sphingolipid biosynthesis regulator 1)