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ORMDL3 - ORMDL sphingolipid biosynthesis regulator 3 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 94103

About ORMDL3

Cytogenetic location: 17q21.1 Genomic coordinates (GRCh38): 17:39,921,041-39,927,601 (from NCBI)

This gene has 8 transcripts (splice variants), 200 orthologues and 2 paralogues. Ubiquitous expression in fat (RPKM 53.9), liver (RPKM 33.4) and 25 other tissues.

Summary

Involved in ceramide metabolic process. Acts upstream of or within several processes, including negative regulation of B cell apoptotic process; negative regulation of ceramide biosynthetic process; and positive regulation of protein localization to nucleus. Located in endoplasmic reticulum. Part of SPOTS complex. [provided by Alliance of Genome Resources, Apr 2022]

ORMDL3 Products (4)

mRNA	Protein	Name
NM_001320801.2	NP_001307730.1	ORM1-like protein 3
NM_001320802.2	NP_001307731.1	ORM1-like protein 3
NM_001320803.1	NP_001307732.1	ORM1-like protein 3
NM_139280.4	NP_644809.1	ORM1-like protein 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20182505	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ceramide metabolic process	IMP IMP: Inferred from mutant phenotype	20182505	GOA
acts upstream of or within negative regulation of B cell apoptotic process	IMP IMP: Inferred from mutant phenotype	28747345	GOA
acts upstream of or within negative regulation of ceramide biosynthetic process	IMP IMP: Inferred from mutant phenotype	25691431	GOA
acts upstream of or within positive regulation of autophagy	IDA IDA: Inferred from direct assay	28747345	GOA
acts upstream of or within positive regulation of autophagy	IMP IMP: Inferred from mutant phenotype	28747345	GOA
acts upstream of or within positive regulation of protein localization to nucleus	IDA IDA: Inferred from direct assay	28747345	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	12093374	GOA
part of serine palmitoyltransferase complex	IDA IDA: Inferred from direct assay	20182505	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ORMDL3 Protein Structure

ORMDL

0
100
153 a.a.

Protein Preferred Names	Protein Names
ORM1-like protein 3

ORMDL3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ORMDL3	Q8N138	RETREG3	Homo sapiens	Q86VR2	Y2H Array	32296183
Intra	ORMDL3	Q8N138	RETREG3	Homo sapiens	Q86VR2	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	SPTLC1	Homo sapiens	O15269	Anti Tag CoIP	20182505
Intra	ORMDL3	Q8N138	SPTLC1	Homo sapiens	O15269	3D-EM	33558761
Intra	ORMDL3	Q8N138	TMEM237	Homo sapiens	Q96Q45-2	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	TMEM237	Homo sapiens	Q96Q45-2	Validated Y2H	32296183
Intra	ORMDL3	Q8N138	TMEM237	Homo sapiens	Q96Q45-2	Y2H Array	32296183
Intra	ORMDL3	Q8N138	REEP2	Homo sapiens	Q9BRK0	Validated Y2H	32296183
Intra	ORMDL3	Q8N138	REEP2	Homo sapiens	Q9BRK0	Y2H Array	32296183
Intra	ORMDL3	Q8N138	REEP2	Homo sapiens	Q9BRK0	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	ARL13B	Homo sapiens	Q3SXY8	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	ARL13B	Homo sapiens	Q3SXY8	Y2H Array	32296183
Intra	ORMDL3	Q8N138	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	ORMDL3	Q8N138	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	GPR152	Homo sapiens	Q8TDT2	Validated Y2H	32296183
Intra	ORMDL3	Q8N138	GPR152	Homo sapiens	Q8TDT2	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	GPR152	Homo sapiens	Q8TDT2	Y2H Array	32296183
Intra	ORMDL3	Q8N138	C10orf67	Homo sapiens	Q8IYJ2-2	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	C10orf67	Homo sapiens	Q8IYJ2-2	Y2H Array	32296183
Intra	ORMDL3	Q8N138	SLC35C2	Homo sapiens	Q9NQQ7-3	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	SLC35C2	Homo sapiens	Q9NQQ7-3	Validated Y2H	32296183
Intra	ORMDL3	Q8N138	SLC35C2	Homo sapiens	Q9NQQ7-3	Y2H Array	32296183
Intra	ORMDL3	Q8N138	GPR101	Homo sapiens	Q96P66	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	GPR101	Homo sapiens	Q96P66	Validated Y2H	32296183
Intra	ORMDL3	Q8N138	GPR101	Homo sapiens	Q96P66	Y2H Array	32296183
Intra	ORMDL3	Q8N138	HSD17B13	Homo sapiens	Q7Z5P4	Y2H Array	32296183
Intra	ORMDL3	Q8N138	HSD17B13	Homo sapiens	Q7Z5P4	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	CERS3	Homo sapiens	Q8IU89	Y2H Array	32296183
Intra	ORMDL3	Q8N138	CERS3	Homo sapiens	Q8IU89	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	ELOVL4	Homo sapiens	Q9GZR5	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	ELOVL4	Homo sapiens	Q9GZR5	Validated Y2H	32296183
Intra	ORMDL3	Q8N138	ELOVL4	Homo sapiens	Q9GZR5	Y2H Array	32296183
Intra	ORMDL3	Q8N138	GET1	Homo sapiens	O00258	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	GET1	Homo sapiens	O00258	Y2H Array	32296183
Intra	ORMDL3	Q8N138	RNF5	Homo sapiens	Q99942	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	RNF5	Homo sapiens	Q99942	Validated Y2H	32296183
Intra	ORMDL3	Q8N138	RNF5	Homo sapiens	Q99942	Y2H Array	32296183
Intra	ORMDL3	Q8N138	EBP	Homo sapiens	Q15125	Y2H Array	32296183
Intra	ORMDL3	Q8N138	EBP	Homo sapiens	Q15125	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	SLC10A1	Homo sapiens	Q14973	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	SLC10A1	Homo sapiens	Q14973	Y2H Array	32296183
Intra	ORMDL3	Q8N138	MTIF3	Homo sapiens	Q9H2K0	Validated Y2H	32296183
Intra	ORMDL3	Q8N138	MTIF3	Homo sapiens	Q9H2K0	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	MTIF3	Homo sapiens	Q9H2K0	Y2H Array	32296183
Intra	ORMDL3	Q8N138	KCNK5	Homo sapiens	O95279	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	KCNK5	Homo sapiens	O95279	Y2H Array	32296183
Intra	ORMDL3	Q8N138	SLC7A1	Homo sapiens	P30825	Y2H Array	32296183
Intra	ORMDL3	Q8N138	SLC7A1	Homo sapiens	P30825	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	COQ8A	Homo sapiens	Q8NI60	Validated Y2H	32296183
Intra	ORMDL3	Q8N138	LEPROTL1	Homo sapiens	O95214	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	LEPROTL1	Homo sapiens	O95214	Y2H Array	32296183
Intra	ORMDL3	Q8N138	ERGIC3	Homo sapiens	Q9Y282	Y2H Array	32296183
Intra	ORMDL3	Q8N138	ERGIC3	Homo sapiens	Q9Y282	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	ERGIC3	Homo sapiens	Q9Y282	Validated Y2H	32296183
Intra	ORMDL3	Q8N138	SYT2	Homo sapiens	Q8N9I0	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	SYT2	Homo sapiens	Q8N9I0	Y2H Array	32296183
Intra	ORMDL3	Q8N138	SYT2	Homo sapiens	Q8N9I0	Validated Y2H	32296183
Intra	ORMDL3	Q8N138	ROM1	Homo sapiens	Q03395	Y2H Prey Pooling	32296183
Intra	ORMDL3	Q8N138	ROM1	Homo sapiens	Q03395	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Asthma	Chronic Obstructive Asthma Asthma, Diminished Response To Antileukotriene Treatment In Bronchial Hyperreactivity Asthma, Susceptibility To Asthma, Bronchial Asthma, Protection Against Asthma, Nocturnal, Susceptibility To Nocturnal Asthma Asthma-Related Traits Asthma-Related Traits, Susceptibility To Asthma, Nocturnal Chronic Obstructive Asthma With Acute Exacerbation Chronic Obstructive Asthma With Status Asthmaticus Exercise Induced Asthma Exercise-Induced Asthma Bronchial Asthma Asthma, Exercise-Induced Idiosyncratic Asthma Unspecified Asthma With Acute Exacerbation Asthma, Unspecified, With Stated Status Asthmaticus Status Asthmaticus Nos Acute Severe Asthma Acute Severe Bronchial Asthma Status Asthma Status Post Asthmaticus
Ileocolitis	Iieocolitis
Chronic Asthma
Inflammatory Bowel Disease 22	IBD22
Childhood-Onset Asthma	Childhood Asthma Asthma Childhood
Intrinsic Asthma	Non-Atopic Asthma
Occupational Asthma
Environmental Induced Asthma	Irritant Asthma
Retinitis Pigmentosa 26	RP26 Retinitis Pigmentosa-26 Retinitis Pigmentosa, Type 26
Bronchial Disease	Bronchial Diseases Bronchial Disorders Bronchial Spasm
Nephrotic Syndrome, Type 14	Sphingosine Phosphate Lyase Insufficiency Syndrome Nephrotic Syndrome 14 NPHS14 Splis Nephrotic Syndrome Type 14 Sgpl1 Deficiency Steroid-Resistant Nephrotic Syndrome Type 14 Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency
Hereditary Sensory And Autonomic Neuropathy Type 1	Hereditary Sensory And Autonomic Neuropathy Type I Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome Hsan1e Hsan1 Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy Hsn1e Hsnie Hereditary Sensory Neuropathy Type Ie Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome Hereditary Sensory And Autonomic Neuropathy Type Ie Hereditary Sensory And Autonomic Neuropathy Type 1e Hereditary Sensory Neuropathy With Hearing Loss And Dementia Dnmt1-Complex Disorder Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss Hsn Ie Hereditary Sensory Autonomic Neuropathy, Type 1 Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09833	ORMDL3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ORMDL3	VGNC	VGNC:44147
Felis catus	ORMDL3	VGNC	VGNC:63974
Bos taurus	ORMDL3	VGNC	VGNC:32454
Rattus norvegicus	ORMDL3	RGD	RGD:1560577
Mus musculus	ORMDL3	MGD	MGI:1913862
Macaca mulatta	ORMDL3	VGNC	VGNC:75617
Others	ORMDL3	NCBI