ELOVL5
protein-codingELOVL fatty acid elongase 5
Gene 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]
- SCA38
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~81.8 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AD
Disease ID:MONDO:0014417
Submitter: Labcorp Genetics (formerly Invitae)
Inheritance Pattern: AD
Disease ID:MONDO:0014417
Submitter: PanelApp Australia
Inheritance Pattern: AD
Disease ID:MONDO:0014417
Submitter: Ambry Genetics
Inheritance Pattern: AD
Disease ID:MONDO:0014417
Submitter: Orphanet
Clinical Genomic Database (CGD)
Manifestation: Neurologic
Intervention: General
Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ELOVL5 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_021814.5. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 16 | 17 | |||
| missense | 2 | 73 | 3 | 78 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 3 | 3 | ||||
| splice donor/acceptor (+/-2bp) | 4 | 4 | ||||
| Total | 2 | 0 | 82 | 19 | 0 | 103 |
Highest pathogenic variant AF is 6.8435025e-7
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_068586.1 | 7 | MANE Select | |
| Ensembl | ENSP00000306640.6 | 7 | MANE Select | |
| RefSeq | NP_001229757.1 | 8 | Standard | |
| RefSeq | NP_001229759.1 | 6 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Biosynthesis of unsaturated fatty acids - Homo sapiens (human)
- Fatty acid elongation - Homo sapiens (human)
- Alpha Linolenic Acid and Linoleic Acid Metabolism
- miR-targeted genes in adipocytes - TarBase
- miR-targeted genes in epithelium - TarBase
Biological Process
- unsaturated fatty acid biosynthetic process
- fatty acid elongation, saturated fatty acid
- sphingolipid biosynthetic process
- fatty acid elongation, monounsaturated fatty acid
- fatty acid elongation, polyunsaturated fatty acid
Molecular Function
- protein binding
- fatty acid elongase activity
- 3-oxo-arachidoyl-CoA synthase activity
- 3-oxo-cerotoyl-CoA synthase activity
- 3-oxo-lignoceronyl-CoA synthase activity
Cellular Component
- endoplasmic reticulum
- endoplasmic reticulum membrane
- membrane
- integral component of endoplasmic reticulum membrane
- dendrite
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000541407
- Coding exons
- 8
- Length
- 81752
- Individuals with no LoFs
- 125730
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 4
- Defined
- 125734
- p
- 0.0000159
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.52 | 127 | 185 | 0.686 | 0.0000101 | 2134 |
| Missense (PolyPhen) | 24 | 72.99 | 0.32881 | 898 | ||
| Synonymous | 1.54 | 53 | 69.3 | 0.765 | 0.00000386 | 603 |
| Loss of Function | 3.74 | 3 | 21.8 | 0.137 | 0.00000121 | 220 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.000029 | 0.000029 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000018 | 0.000018 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0.00016 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme that acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate in the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. {ECO:0000255|HAMAP-Rule:MF_03205, ECO:0000269|PubMed:10970790, ECO:0000269|PubMed:20937905}.;
Intolerance Scores
- LoFtool
- 0.249
- RVIS EVS
- 0.08
- RVIS percentile EVS
- 59.76
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- H
- Indispensability pred.
- N
- Indispensability score
- 0.0383
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |