ELOVL5 - ELOVL fatty acid elongase 5 Gene

Also Known as HELO1; SCA38; dJ483K16.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 60481

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	Références	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	Références	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	Références	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
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

ELOVL5 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P81813	ELOVL5 Antibody (YA1558)	WB, ICC/IF	Human
HY-P81813A	ELOVL5 Antibody (YA1558)(PBS only)	WB, ICC/IF	Human

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS18421	Elovl5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04325	ELOVL5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24902	Elovl5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	ELOVL5	NCBI