ELOVL5 - ELOVL fatty acid elongase 5 Gene

Homo sapiens

Also known as HELO1; SCA38; dJ483K16.1

Gene ID: 60481 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables fatty acid elongase activity	EXP EXP: Inferred from Experiment	10970790	GOA
enables fatty acid elongase activity	IDA IDA: Inferred from direct assay	20427700	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20937905	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in fatty acid elongation, monounsaturated fatty acid	IDA IDA: Inferred from direct assay	20427700	GOA
involved in fatty acid elongation, polyunsaturated fatty acid	IDA IDA: Inferred from direct assay	20427700	GOA
involved in positive regulation of fatty acid biosynthetic process	IMP IMP: Inferred from mutant phenotype	23749231	GOA
involved in very long-chain fatty acid biosynthetic process	IDA IDA: Inferred from direct assay	20427700	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in dendritic tree	IDA IDA: Inferred from direct assay	25065913	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	20937905	GOA
located in neuronal cell body	IDA IDA: Inferred from direct assay	25065913	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

ELOVL5 Protein Structure

ELO

0
100
200
299 a.a.

Protein Preferred Names

Protein Names

elongation of very long chain fatty acids protein 5

3-keto acyl-CoA synthase ELOVL5

ELOVL5 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ELOVL5	Q9NYP7	NINJ2	Homo sapiens	Q9NZG7	Validated Y2H	32296183
Intra	ELOVL5	Q9NYP7	THSD7A	Homo sapiens	Q9UPZ6	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04325	ELOVL5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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