ELOVL5 - ELOVL fatty acid elongase 5 Gene

中文名称：ELOVL 脂肪酸延长酶 5

种属: Homo sapiens

同用名: HELO1; SCA38; dJ483K16.1

基因 ID: 60481 | 基因类型: protein coding

关于 ELOVL5

Cytogenetic location: 6p12.1 Genomic coordinates (GRCh38): 6:53,267,404-53,348,950 (from NCBI)

This gene has 7 transcripts (splice variants), 223 orthologues, 6 paralogues and is associated with 2 phenotypes. Broad expression in fat (RPKM 113.4), prostate (RPKM 59.1) and 22 other tissues.

功能概要

该基因属于 ELO 家族。它在肾上腺和睾丸中高度表达，并编码位于内质网中的多通道膜蛋白。这种蛋白质参与长链多不饱和脂肪酸的延长。该基因的突变与脊髓小脑性共济失调 38 (SCA38) 有关。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2014 年 9 月]

This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

ELOVL5 基因产物(5)

mRNA	Protein	Name
NM_001242828.2	NP_001229757.1	elongation of very long chain fatty acids protein 5 isoform 2
NM_001242830.2	NP_001229759.1	elongation of very long chain fatty acids protein 5 isoform 3
NM_001242831.2	NP_001229760.1	elongation of very long chain fatty acids protein 5 isoform 4
NM_001301856.2	NP_001288785.1	elongation of very long chain fatty acids protein 5 isoform 1
NM_021814.5	NP_068586.1	elongation of very long chain fatty acids protein 5 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	20427700	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	20427700	GOA
involved in fatty acid elongation, polyunsaturated fatty acid	IDA IDA: 通过直接分析推断	20427700	GOA
involved in positive regulation of fatty acid biosynthetic process	IMP IMP: 通过突变表型推断	23749231	GOA
involved in very long-chain fatty acid biosynthetic process	IDA IDA: 通过直接分析推断	20427700	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in dendritic tree	IDA IDA: 通过直接分析推断	25065913	GOA
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	20937905	GOA
located in neuronal cell body	IDA IDA: 通过直接分析推断	25065913	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

ELOVL5 蛋白结构

ELO

0
100
200
299 a.a.

蛋白主名

其他名称

elongation of very long chain fatty acids protein 5

3-keto acyl-CoA synthase ELOVL5

ELOVL5 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
Intra	ELOVL5	Q9NYP7	NINJ2	Homo sapiens	Q9NZG7	Validated Y2H	32296183
Intra	ELOVL5	Q9NYP7	THSD7A	Homo sapiens	Q9UPZ6	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Spinocerebellar Ataxia 38

Spinocerebellar Ataxia Type 38	SCA38
Ataxia, Spinocerebellar, Type 38

Intermittent Squint

Intermittent Heterotropia

Intermittent Tropia

Spinocerebellar Ataxia 34

Erythrokeratodermia With Ataxia	Spinocerebellar Ataxia Type 34
SCA34	Erythrokeratodermia - Ataxia
Giroux Barbeau Syndrome	Spinocerebellar Ataxia And Erythrokeratodermia
Erythrokeratodermia Ataxia

46,Xy Sex Reversal 6

SRXY6	46,Xy Sex Reversal, Partial Or Complete, Map3k1-Related
46,Xy Gonadal Dysgenesis, Partial Or Complete, Map3k1-Related	46xy Sex Reversal 6
46,Xy Gonadal Dysgenesis Partial Or Complete Map3k1-Related	46,Xy Sex Reversal Partial Or Complete Map3k1-Related

Neuropathy, Hereditary Sensory And Autonomic, Type Iia

Hereditary Sensory And Autonomic Neuropathy Type 2	Hsan2
HSAN2A	Morvan Disease
Hereditary Sensory And Autonomic Neuropathy Type Ii	Neurogenic Acroosteolysis
Hsan Iia	Hsn2a
Hsn Iia	Neuropathy, Progressive Sensory, Of Children
Neuropathy, Congenital Sensory	Neuropathy, Hereditary Sensory And Autonomic, Type Ii
Hereditary Sensory And Autonomic Neuropathy Type 2a	Hereditary Sensory And Autonomic Neuropathy Type Iia
Hsanii	Congenital Sensory Neuropathy
Hsan Type Ii	Morvan Syndrome
Neuropathy, Hereditary Sensory And Autonomic, Type 2a	Morvan'S Disease
Neuropathy, Hereditary Sensory, Type Iia	Acroosteolysis, Neurogenic
Acroosteolysis, Giaccai Type	Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive
Hereditary Sensory Autonomic Neuropathy Type 2	Giaccai Type Acroosteolysis
Hereditary Sensory Neuropathy Type 2	Hereditary Sensory Radicular Neuropathy, Recessive Form
Hsan2b	Hsan2c
Hsan2d	Hsn Type Ii
Autosomal Recessive Sensory Radicular Neuropathy	Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome
Morvan Fibrillary Chorea	Neuropathy, Hereditary Sensory And Autonomic, 2a
Acroosteolysis Giaccai Type	Hereditary Sensory Neuropathy Type Iia
Hereditary Sensory Radicular Neuropathy Autosomal Recessive	Progressive Sensory Neuropathy Of Children
Neuropathy Congenital Sensory	Charcot-Marie-Tooth Disease
Neuropathy, Sensory And Autonomic, Hereditary, Type Iia	Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii	Sensory Neuropathy, Hereditary
Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Cowden Syndrome 5

CWS5	Cowden Syndrome, Type 5

Glaucoma, Normal Tension

Low Tension Glaucoma	Glaucoma, Normal Tension, Susceptibility To
Normal Tension Glaucoma	Ntg
Glaucoma, Normal Pressure	NPG
Glaucoma, Normal Pressure, Susceptibility To	Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]

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

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

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E	Primary Open Angle Glaucoma
POAG	Adult-Onset Primary Open Angle Glaucoma
Chronic Simple Glaucoma	GLC1E
Primary Open Angle Glaucoma 1e	Glaucoma, Open Angle, Primary

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-RS04325	ELOVL5 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	ELOVL5	VGNC	VGNC:28451
Felis catus	ELOVL5	VGNC	VGNC:61824
Macaca mulatta	ELOVL5	VGNC	VGNC:72083
Canis familiaris	ELOVL5	VGNC	VGNC:40323
Rattus norvegicus	ELOVL5	RGD	RGD:620583
Mus musculus	ELOVL5	MGD	MGI:1916051

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