Details for: FBXL4

Gene ID: 26235

Symbol: FBXL4

Ensembl ID: ENSG00000112234

Description: F-box and leucine rich repeat protein 4

Associated with

Other Information

Genular Protein ID: 1107027116

Symbol: FBXL4_HUMAN

Name: F-box/LRR-repeat protein 4

UniProtKB Accession Codes:

Q9UKA2 B2R7Q5 E1P530 O95919 Q5BJH0 Q9UJU0

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 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 EPD 1 Ensembl 2 GO 8 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 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 Pumba 1 RNAct 1 Reactome 2 RefSeq 3 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10531037

Title: A family of mammalian F-box proteins.

PubMed ID: 10531037

DOI: 10.1016/s0960-9822(00)80021-4

PubMed ID: 10531035

Title: Identification of a family of human F-box proteins.

PubMed ID: 10531035

DOI: 10.1016/s0960-9822(00)80020-2

PubMed ID: 10945468

Title: cDNA cloning and expression analysis of new members of the mammalian F-box protein family.

PubMed ID: 10945468

DOI: 10.1006/geno.2000.6211

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 23993193

Title: Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.

PubMed ID: 23993193

DOI: 10.1016/j.ajhg.2013.07.017

PubMed ID: 23993194

Title: Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

PubMed ID: 23993194

DOI: 10.1016/j.ajhg.2013.07.016

PubMed ID: 27182039

Title: A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

PubMed ID: 27182039

DOI: 10.1016/j.ejmg.2016.05.005

Sequence Information:

  • Length: 621
  • Mass: 70097
  • Checksum: D8FD51A5C4F922D3
  • Sequence:
    • MSPVFPMLTV LTMFYYICLR RRARTATRGE MMNTHRAIES NSQTSPLNAE VVQYAKEVVD 
FSSHYGSENS MSYTMWNLAG VPNVFPSSGD FTQTAVFRTY GTWWDQCPSA SLPFKRTPPN 
FQSQDYVELT FEQQVYPTAV HVLETYHPGA VIRILACSAN PYSPNPPAEV RWEILWSERP 
TKVNASQARQ FKPCIKQINF PTNLIRLEVN SSLLEYYTEL DAVVLHGVKD KPVLSLKTSL 
IDMNDIEDDA YAEKDGCGMD SLNKKFSSAV LGEGPNNGYF DKLPYELIQL ILNHLTLPDL 
CRLAQTCKLL SQHCCDPLQY IHLNLQPYWA KLDDTSLEFL QSRCTLVQWL NLSWTGNRGF 
ISVAGFSRFL KVCGSELVRL ELSCSHFLNE TCLEVISEMC PNLQALNLSS CDKLPPQAFN 
HIAKLCSLKR LVLYRTKVEQ TALLSILNFC SELQHLSLGS CVMIEDYDVI ASMIGAKCKK 
LRTLDLWRCK NITENGIAEL ASGCPLLEEL DLGWCPTLQS STGCFTRLAH QLPNLQKLFL 
TANRSVCDTD IDELACNCTR LQQLDILGTR MVSPASLRKL LESCKDLSLL DVSFCSQIDN 
RAVLELNASF PKVFIKKSFT Q

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.