help  | about  | cite  | software

Gene : ELOVL5 Homo sapiens

Name  ? ELOVL fatty acid elongase 5 Cytological Location  6p12.1
Brief Description  ELOVL fatty acid elongase 5
Description  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]
  • synonyms:
  • SCA38,
  • HGNC:21308,
  • NM_021814,
  • dJ483K16.1,
  • HELO1,
  • ELOVL5,
  • OTTHUMG00000016249,
  • dJ483K16.1,
  • uc003pbr.3,
  • SCA38,
  • HELO1,
  • AF052129,
  • spinocerebellar ataxia 38,
  • ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)
  • identifiers:
  • 60481,
  • ENSG00000012660,
  • ELOVL5

Genome feature

Region: gene ? Length: 81782  
Location: 6:53267398-53349179 reverse strand Cyto location: 6p12.1


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results