Details for: FRRS1L

Gene ID: 23732

Symbol: FRRS1L

Ensembl ID: ENSG00000260230

Description: ferric chelate reductase 1 like

Associated with

Other Information

Genular Protein ID: 615552224

Symbol: FRS1L_HUMAN

Name: DOMON domain-containing protein FRRS1L

UniProtKB Accession Codes:

Q9P0K9 Q5T4G4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 2 Ensembl 1 ExpressionAtlas 1 GO 8 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SAM 1 SMART 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 10603000

Title: Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31.

PubMed ID: 10603000

DOI: 10.1007/s003350010017

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 27236917

Title: Loss-of-function mutations in FRRS1L lead to an epileptic-dyskinetic encephalopathy.

PubMed ID: 27236917

DOI: 10.1016/j.ajhg.2016.04.008

PubMed ID: 27239025

Title: Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L.

PubMed ID: 27239025

DOI: 10.1111/cge.12796

Sequence Information:

  • Length: 293
  • Mass: 32389
  • Checksum: D3E293757648EEDB
  • Sequence:
    • MARPPRQHPG VWASLLLLLL TGPAACAASP ADDGAGPGGR GPRGRARGDT GADEAVPRHD 
SSYGTFAGEF YDLRYLSEEG YPFPTAPPVD PFAKIKVDDC GKTKGCFRYG KPGCNAETCD 
YFLSYRMIGA DVEFELSADT DGWVAVGFSS DKKMGGDDVM ACVHDDNGRV RIQHFYNVGQ 
WAKEIQRNPA RDEEGVFENN RVTCRFKRPV NVPRDETIVD LHLSWYYLFA WGPAIQGSIT 
RHDIDSPPAS ERVVSIYKYE DIFMPSAAYQ TFSSPFCLLL IVALTFYLLM GTP

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.