ELOVL1 - ELOVL fatty acid elongase 1 Gene

中文名称：ELOVL 脂肪酸延长酶 1

种属: Homo sapiens

同用名: Ssc1; IKSHD; CGI-88

基因 ID: 64834 | 基因类型: protein coding

关于 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.

功能概要

启用脂肪酸延长酶活性。参与脂肪酸生物合成过程和鞘脂生物合成过程。位于内质网。 [由基因组资源联盟提供，2022 年 4 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables fatty acid elongase activity	EXP EXP: 通过实验结果推断	10970790	GOA
enables fatty acid elongase activity	IDA IDA: 通过直接分析推断	20166112	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20937905	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in fatty acid elongation, monounsaturated fatty acid	IDA IDA: 通过直接分析推断	20166112	GOA
involved in fatty acid elongation, saturated fatty acid	IDA IDA: 通过直接分析推断	20166112	GOA
involved in sphingolipid biosynthetic process	IMP IMP: 通过突变表型推断	20937905	GOA
involved in very long-chain fatty acid biosynthetic process	IDA IDA: 通过直接分析推断	20166112	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	20937905	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ELOVL1 蛋白结构

ELO

0
100
200
279 a.a.

蛋白主名

其他名称

elongation of very long chain fatty acids protein 1

3-keto acyl-CoA synthase ELOVL1

关联疾病

疾病名称

别名

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

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-145272	ELOVL1-IN-3		99.81%	否
HY-145122	ELOVL1-IN-1		98.02%	否
HY-152947	ELOVL6-IN-4		98.63%	否
HY-145270	ELOVL1-IN-2		98.97%	否
HY-RS04321	ELOVL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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