Details for: ELOVL1

Gene ID: 64834

Symbol: ELOVL1

Ensembl ID: ENSG00000066322

Description: ELOVL fatty acid elongase 1

Associated with

Other Information

Genular Protein ID: 3332334540

Symbol: ELOV1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9BW60 B4DP24 Q53HT2 Q5JUY3 Q8WXU3 Q9NVD9 Q9Y396

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 48 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 7 EPD 1 Ensembl 3 GO 15 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HAMAP-Rule 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 3 RefSeq 4 Rhea 16 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10810093

Title: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.

PubMed ID: 10810093

DOI: 10.1101/gr.10.5.703

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16564093

Title: Fatty acid elongases in mammals: their regulation and roles in metabolism.

PubMed ID: 16564093

DOI: 10.1016/j.plipres.2006.01.004

PubMed ID: 19575253

Title: Development of a high-density assay for long-chain fatty acyl-CoA elongases.

PubMed ID: 19575253

DOI: 10.1007/s11745-009-3320-8

PubMed ID: 20166112

Title: The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.

PubMed ID: 20166112

DOI: 10.1002/emmm.201000061

PubMed ID: 20937905

Title: ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis.

PubMed ID: 20937905

DOI: 10.1073/pnas.1005572107

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29496980

Title: Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.

PubMed ID: 29496980

DOI: 10.1136/jmedgenet-2017-105172

PubMed ID: 30487246

Title: De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.

PubMed ID: 30487246

DOI: 10.1136/jmedgenet-2018-105711

Sequence Information:

  • Length: 279
  • Mass: 32663
  • Checksum: B168EE4C7EAF92A6
  • Sequence:
    • MEAVVNLYQE VMKHADPRIQ GYPLMGSPLL MTSILLTYVY FVLSLGPRIM ANRKPFQLRG 
FMIVYNFSLV ALSLYIVYEF LMSGWLSTYT WRCDPVDYSN SPEALRMVRV AWLFLFSKFI 
ELMDTVIFIL RKKDGQVTFL HVFHHSVLPW SWWWGVKIAP GGMGSFHAMI NSSVHVIMYL 
YYGLSAFGPV AQPYLWWKKH MTAIQLIQFV LVSLHISQYY FMSSCNYQYP VIIHLIWMYG 
TIFFMLFSNF WYHSYTKGKR LPRALQQNGA PGIAKVKAN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.