ELOVL1 - ELOVL fatty acid elongase 1 Gene

Also Known as Ssc1; IKSHD; CGI-88

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64834

About ELOVL1

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:43,363,401-43,368,011 (from NCBI)

This gene has 16 transcripts (splice variants), 277 orthologues, 6 paralogues and is associated with 1 phenotype. Ubiquitous expression in skin (RPKM 64.5), esophagus (RPKM 53.9) and 25 other tissues.

Summary

Enables fatty acid elongase activity. Involved in fatty acid biosynthetic process and sphingolipid biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]

ELOVL1 Products (4)

mRNA	Protein	Name
NM_001256399.2	NP_001243328.1	elongation of very long chain fatty acids protein 1 isoform 1
NM_001256401.2	NP_001243330.1	elongation of very long chain fatty acids protein 1 isoform 2
NM_001256402.2	NP_001243331.1	elongation of very long chain fatty acids protein 1 isoform 3
NM_022821.4	NP_073732.1	elongation of very long chain fatty acids protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables fatty acid elongase activity	EXP EXP: Inferred from Experiment	10970790	GOA
enables fatty acid elongase activity	IDA IDA: Inferred from direct assay	20166112	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20937905	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in fatty acid elongation, monounsaturated fatty acid	IDA IDA: Inferred from direct assay	20166112	GOA
involved in fatty acid elongation, saturated fatty acid	IDA IDA: Inferred from direct assay	20166112	GOA
involved in sphingolipid biosynthetic process	IMP IMP: Inferred from mutant phenotype	20937905	GOA
involved in very long-chain fatty acid biosynthetic process	IDA IDA: Inferred from direct assay	20166112	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	20937905	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

ELOVL1 Protein Structure

ELO

0
100
200
279 a.a.

Protein Preferred Names	Protein Names
elongation of very long chain fatty acids protein 1	3-keto acyl-CoA synthase ELOVL1

Related Diseases

Diseases	Alias
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facies IKSHD
Spinocerebellar Ataxia 38	Spinocerebellar Ataxia Type 38 SCA38 Ataxia, Spinocerebellar, Type 38
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Spinocerebellar Ataxia 34	Erythrokeratodermia With Ataxia Spinocerebellar Ataxia Type 34 SCA34 Erythrokeratodermia - Ataxia Giroux Barbeau Syndrome Spinocerebellar Ataxia And Erythrokeratodermia Erythrokeratodermia Ataxia
Adrenoleukodystrophy	X-Linked Adrenoleukodystrophy ALD Siemerling-Creutzfeldt Disease X-Ald X-Linked Cerebral Adrenoleukodystrophy Bronze Schilder Disease Melanodermic Leukodystrophy Addison Disease And Cerebral Sclerosis Adrenomyeloneuropathy, Adult Diffuse Sclerosis X-Cald Adrenomyeloneuropathy Encephalitis Periaxialis Concentrica Encephalitis Periaxialis, Schilder'S Sudanophilic Cerebral Sclerosis Ald Childhood Cerebral Form Adrenoleukodystrophy X-Linked Cerebral Form Adrenoleukodystrophy Childhood Cerebral Form Childhood Cerebral Ald Schilder Disease X-Linked Ald Adrenoleukodystrophy, X-Linked Amn Diffuse Cerebral Sclerosis Of Schilder Systemic Scleroderma Balo'S Concentric Sclerosis Ald - [Adrenoleukodystrophy] Addison-Schilder
Acanthosis Nigricans	Keratosis Nigricans An
Spasticity
Dermatitis, Atopic, 2	Atopic Dermatitis 2 ATOD2 Dermatitis, Atopic, Susceptibility To, 2 Dermatitis, Atopic, 2, Susceptibility To Dermatitis, Atopic 2 Dermatitis Atopic 2 Atopic Eczema Dermatitis, Atopic, Type 2 Dermatitis, Atopic
Peroxisomal Acyl-Coa Oxidase Deficiency	Pseudoneonatal Adrenoleukodystrophy Straight-Chain Acyl-Coa Oxidase Deficiency Pseudoadrenoleukodystrophy PSEUDO-NALD Pseudo-Neonatal Adrenoleukodystrophy Acyl-Coa Oxidase Deficiency Peroxisomal Acyl-Coenzyme A Oxidase Acyl-Coenzyme A Oxidase Deficiency Adrenoleukodystrophy, Pseudoneonatal Deficiency, Peroxisomal Acyl-Coa Oxidase
Excessive Tearing	Epiphora Lacrimal Apparatus Diseases Excessive Tear Production Watering Eye
Spastic Cerebral Palsy	Palsy, Cerebral, Spastic Infantile Hemiplegia Nos Postnatal Infantile Hemiplegia Nos Congenital Spastic Hemiplegia Spastic Hemiplegic Cerebral Palsy Congenital Hemiplegia Nos Hemiplegic Cerebral Palsy Hemiplegic Infantile Cerebral Palsy
Spastic Quadriplegia	Spastic Quadriplegic Cerebral Palsy Quadriplegic Infantile Cerebral Palsy Tetraplegic Infantile Cerebral Palsy Cerebral Palsy Spastic Quadriplegic Quadriplegic Cerebral Palsy Spastic Quadriplegia Cerebral Palsy Spastic Tetraplegia Cerebral Palsy Cerebral Palsy, Quadriplegic, Infantile Cerebral Palsy With Spastic Tetraplegia Congenital Spastic Quadriplegia Spastic Tetraplegic Cerebral Palsy Congenital Quadriplegia Nos Tetraplegic Cerebral Palsy
D-Bifunctional Protein Deficiency	Bifunctional Peroxisomal Enzyme Deficiency 17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency Dbp Deficiency Peroxisomal Bifunctional Enzyme Deficiency Pbfe Deficiency Bifunctional Enzyme Deficiency Pseudo-Zellweger Syndrome Zellweger-Like Syndrome DBPD Protein Deficiency, D-Bifunctional
Erythrokeratodermia Variabilis Et Progressiva 1	Erythrokeratodermia Variabilis Erythrokeratodermia Variabilis Et Progressiva Greither Disease Ekv Ekvp PSEK Erythrokeratodermia Variabilis With Erythema Gyratum Repens Keratosis Palmoplantaris Transgrediens Et Progrediens Transgrediens Et Progrediens Palmoplantar Keratoderma EKVP1 Erythrokeratodermia, Progressive Symmetric Erythrokeratodermia Figurata, Congenital Familial, In Plaques Keratoderma Palmoplantaris Transgrediens Keratosis Extremitatum Hereditaria Progrediens Erythrokeratodermia Variabilis, Mendes Da Costa Type Progressive Symmetric Erythrokeratodermia Erythrokeratodermia Figurata Variabilis Greither'S Disease Ekv-P Erythrokeratodermia Variabilis Of Mendes Da Costa Progressive Symmetrical Erythrokeratoderma Of Gottron Progressive Diffuse Ppk Progressive Diffuse Palmoplantar Keratoderma Transgrediens Et Progrediens Ppk Darier-Gottron Disease Erythrokeratodermia Progressiva Symmetrica Progressive Symmetric Erythrokeratodermia, Gottron Type Congenital Familial Erythrokeratodermia Figurata In Plaques Erythrokeratodermia Progressive Symmetric Erythrokeratodermia Variabilis Mendes Da Costa Type
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Peroxisomal Biogenesis Disorder	Zellweger Spectrum Disorders Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum Disorders Of Peroxisome Biogenesis Zellweger Spectrum Zellweger Syndrome Spectrum Peroxisomal Biogenesis Disorders Pbd, Zss Pbd-Zsd Pbd-Zss Pbd-Zellweger Spectrum Disorder Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisome Biogenesis Disorder Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorders Zellweger Spectrum Disorder Hyperpipecolic Acidaemia
Autosomal Recessive Congenital Ichthyosis	Lamellar Ichthyosis Congenital Ichthyosiform Erythroderma Li Congenital Nonbullous Ichthyosiform Erythroderma Arci Congenital Lamellar Ichthyosis Nonbullous Congenital Ichthyosiform Erythroderma Cie Congenital Non-Bullous Ichthyosiform Erythroderma Erythrodermic Ichthyosis Nbcie Ncie Non-Bullous Congenital Ichthyosiform Erythroderma Collodion Baby Ichthyosis, Lamellar Non Bullous Congenital Ichthyosiform Erythroderma Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 Collodion Baby Syndrome Ichthyoses, Lamellar Nbie Nonbullous Ichthyosiform Erythroderma Classic Lamellar Ichthyosis Ichthyosiform Erythroderma Nonbullous Congenital Ichthyosiform Erythroderma Congenital Ichthyosis, Congenital, Autosomal Recessive Ichthyosiform Erythroderma, Congenital Collodion Fetus Non-Bullous Ichthyosiform Erythroderma

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 (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W269593	Perfluorodecanoic acid	Inhibitor	98.0%	Unkown
HY-NP0204	Mouse Serum Albumin		95%	Unkown
HY-145272	ELOVL1-IN-3		99.93%	Unkown
HY-152947	ELOVL6-IN-4		98.94%	Unkown
HY-145122	ELOVL1-IN-1		98.02%	Unkown
HY-160912	ELOVL6-IN-5	Inhibitor	95.47%	Unkown
HY-145270	ELOVL1-IN-2		99.82%	Unkown
HY-RS04321	ELOVL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18862	Elovl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25354	Elovl1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ELOVL1	VGNC	VGNC:28447
Macaca mulatta	ELOVL1	VGNC	VGNC:72047
Rattus norvegicus	ELOVL1	RGD	RGD:1587151
Felis catus	ELOVL1	VGNC	VGNC:107529
Canis familiaris	ELOVL1	VGNC	VGNC:40319
Mus musculus	ELOVL1	MGD	MGI:1858959
Others	ELOVL1	NCBI