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Protein

F-box/LRR-repeat protein 4

Gene

FBXL4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

  • protein polyubiquitination Source: Reactome
  • ubiquitin-dependent protein catabolic process Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Ubl conjugation pathway

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112234-MONOMER.
ReactomeiR-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.

Names & Taxonomyi

Protein namesi
Recommended name:
F-box/LRR-repeat protein 4
Alternative name(s):
F-box and leucine-rich repeat protein 4
F-box protein FBL4/FBL5
Gene namesi
Name:FBXL4
Synonyms:FBL4, FBL5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:13601. FBXL4.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • mitochondrial intermembrane space Source: UniProtKB
  • nucleoplasm Source: HPA
  • ubiquitin ligase complex Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Mitochondrial DNA depletion syndrome 13 (MTDPS13)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content.
See also OMIM:615471
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070858205I → T in MTDPS13. 1 Publication1
Natural variantiVAR_076547481L → P in MTDPS13. 1 PublicationCorresponds to variant rs772037717dbSNPEnsembl.1
Natural variantiVAR_070859482R → W in MTDPS13. 1 PublicationCorresponds to variant rs398123061dbSNPEnsembl.1
Natural variantiVAR_070860551I → N in MTDPS13. 1 Publication1
Natural variantiVAR_070861565D → G in MTDPS13. 1 PublicationCorresponds to variant rs398123062dbSNPEnsembl.1
Natural variantiVAR_070862568G → A in MTDPS13. 1 PublicationCorresponds to variant rs398123060dbSNPEnsembl.1
Natural variantiVAR_070863597Q → P in MTDPS13. 1 PublicationCorresponds to variant rs201989042dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi26235.
MalaCardsiFBXL4.
MIMi615471. phenotype.
OpenTargetsiENSG00000112234.
Orphaneti369897. Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies.
PharmGKBiPA28024.

Polymorphism and mutation databases

DMDMi21263631.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001198441 – 621F-box/LRR-repeat protein 4Add BLAST621

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei28Asymmetric dimethylarginineBy similarity1

Keywords - PTMi

Methylation

Proteomic databases

EPDiQ9UKA2.
MaxQBiQ9UKA2.
PaxDbiQ9UKA2.
PeptideAtlasiQ9UKA2.
PRIDEiQ9UKA2.

PTM databases

iPTMnetiQ9UKA2.
PhosphoSitePlusiQ9UKA2.

Expressioni

Tissue specificityi

Expressed in heart, kidney, liver, lung, pancreas, and placenta, but not in skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000112234.
CleanExiHS_FBXL4.
GenevisibleiQ9UKA2. HS.

Organism-specific databases

HPAiCAB033362.
HPA029140.

Interactioni

Subunit structurei

Part of a SCF (SKP1-cullin-F-box) protein ligase complex.By similarity

Protein-protein interaction databases

BioGridi117626. 40 interactors.
IntActiQ9UKA2. 6 interactors.
STRINGi9606.ENSP00000229971.

Structurei

3D structure databases

ProteinModelPortaliQ9UKA2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini277 – 332F-boxPROSITE-ProRule annotationAdd BLAST56
Repeati376 – 397LRR 1Add BLAST22
Repeati402 – 421LRR 2Add BLAST20
Repeati427 – 448LRR 3Add BLAST22
Repeati452 – 474LRR 4Add BLAST23
Repeati480 – 501LRR 5Add BLAST22
Repeati504 – 524LRR 6Add BLAST21
Repeati532 – 558LRR 7Add BLAST27
Repeati559 – 583LRR 8Add BLAST25
Repeati584 – 609LRR 9Add BLAST26

Sequence similaritiesi

Contains 1 F-box domain.PROSITE-ProRule annotation
Contains 9 LRR (leucine-rich) repeats.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG1947. Eukaryota.
ENOG410XQ54. LUCA.
GeneTreeiENSGT00760000119059.
HOGENOMiHOG000006948.
HOVERGENiHBG051588.
InParanoidiQ9UKA2.
KOiK10270.
OMAiTMFYYIC.
OrthoDBiEOG091G06EZ.
PhylomeDBiQ9UKA2.
TreeFamiTF323721.

Family and domain databases

Gene3Di3.80.10.10. 2 hits.
InterProiIPR001810. F-box_dom.
IPR032675. L_dom-like.
IPR006553. Leu-rich_rpt_Cys-con_subtyp.
[Graphical view]
PfamiPF00646. F-box. 1 hit.
[Graphical view]
SMARTiSM00367. LRR_CC. 7 hits.
[Graphical view]
SUPFAMiSSF81383. SSF81383. 1 hit.
PROSITEiPS50181. FBOX. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9UKA2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSPVFPMLTV LTMFYYICLR RRARTATRGE MMNTHRAIES NSQTSPLNAE
60 70 80 90 100
VVQYAKEVVD FSSHYGSENS MSYTMWNLAG VPNVFPSSGD FTQTAVFRTY
110 120 130 140 150
GTWWDQCPSA SLPFKRTPPN FQSQDYVELT FEQQVYPTAV HVLETYHPGA
160 170 180 190 200
VIRILACSAN PYSPNPPAEV RWEILWSERP TKVNASQARQ FKPCIKQINF
210 220 230 240 250
PTNLIRLEVN SSLLEYYTEL DAVVLHGVKD KPVLSLKTSL IDMNDIEDDA
260 270 280 290 300
YAEKDGCGMD SLNKKFSSAV LGEGPNNGYF DKLPYELIQL ILNHLTLPDL
310 320 330 340 350
CRLAQTCKLL SQHCCDPLQY IHLNLQPYWA KLDDTSLEFL QSRCTLVQWL
360 370 380 390 400
NLSWTGNRGF ISVAGFSRFL KVCGSELVRL ELSCSHFLNE TCLEVISEMC
410 420 430 440 450
PNLQALNLSS CDKLPPQAFN HIAKLCSLKR LVLYRTKVEQ TALLSILNFC
460 470 480 490 500
SELQHLSLGS CVMIEDYDVI ASMIGAKCKK LRTLDLWRCK NITENGIAEL
510 520 530 540 550
ASGCPLLEEL DLGWCPTLQS STGCFTRLAH QLPNLQKLFL TANRSVCDTD
560 570 580 590 600
IDELACNCTR LQQLDILGTR MVSPASLRKL LESCKDLSLL DVSFCSQIDN
610 620
RAVLELNASF PKVFIKKSFT Q
Length:621
Mass (Da):70,097
Last modified:May 27, 2002 - v2
Checksum:iD8FD51A5C4F922D3
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti5F → Y in AAF03699 (PubMed:10531037).Curated1
Sequence conflicti42S → G in AAF09247 (PubMed:10945468).Curated1
Sequence conflicti122Q → K in AAF03699 (PubMed:10531037).Curated1
Sequence conflicti126Y → I in AAF03699 (PubMed:10531037).Curated1
Sequence conflicti219E → G in AAF03699 (PubMed:10531037).Curated1
Sequence conflicti232P → A in AAF03699 (PubMed:10531037).Curated1
Sequence conflicti533P → L in BAG35902 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070858205I → T in MTDPS13. 1 Publication1
Natural variantiVAR_076547481L → P in MTDPS13. 1 PublicationCorresponds to variant rs772037717dbSNPEnsembl.1
Natural variantiVAR_070859482R → W in MTDPS13. 1 PublicationCorresponds to variant rs398123061dbSNPEnsembl.1
Natural variantiVAR_070860551I → N in MTDPS13. 1 Publication1
Natural variantiVAR_070861565D → G in MTDPS13. 1 PublicationCorresponds to variant rs398123062dbSNPEnsembl.1
Natural variantiVAR_070862568G → A in MTDPS13. 1 PublicationCorresponds to variant rs398123060dbSNPEnsembl.1
Natural variantiVAR_070863597Q → P in MTDPS13. 1 PublicationCorresponds to variant rs201989042dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF176699 mRNA. Translation: AAF03699.1.
AF174590 mRNA. Translation: AAF04511.1.
AF199355 mRNA. Translation: AAF09247.1.
AK313076 mRNA. Translation: BAG35902.1.
AL022395 Genomic DNA. Translation: CAB37981.1.
CH471051 Genomic DNA. Translation: EAW48489.1.
CH471051 Genomic DNA. Translation: EAW48490.1.
BC055010 mRNA. Translation: AAH55010.1.
BC091484 mRNA. Translation: AAH91484.1.
CCDSiCCDS5041.1.
RefSeqiNP_001265645.1. NM_001278716.1.
NP_036292.2. NM_012160.4.
XP_016866215.1. XM_017010726.1.
UniGeneiHs.536850.
Hs.714504.

Genome annotation databases

EnsembliENST00000229971; ENSP00000229971; ENSG00000112234.
ENST00000369244; ENSP00000358247; ENSG00000112234.
GeneIDi26235.
KEGGihsa:26235.
UCSCiuc003ppf.2. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF176699 mRNA. Translation: AAF03699.1.
AF174590 mRNA. Translation: AAF04511.1.
AF199355 mRNA. Translation: AAF09247.1.
AK313076 mRNA. Translation: BAG35902.1.
AL022395 Genomic DNA. Translation: CAB37981.1.
CH471051 Genomic DNA. Translation: EAW48489.1.
CH471051 Genomic DNA. Translation: EAW48490.1.
BC055010 mRNA. Translation: AAH55010.1.
BC091484 mRNA. Translation: AAH91484.1.
CCDSiCCDS5041.1.
RefSeqiNP_001265645.1. NM_001278716.1.
NP_036292.2. NM_012160.4.
XP_016866215.1. XM_017010726.1.
UniGeneiHs.536850.
Hs.714504.

3D structure databases

ProteinModelPortaliQ9UKA2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117626. 40 interactors.
IntActiQ9UKA2. 6 interactors.
STRINGi9606.ENSP00000229971.

PTM databases

iPTMnetiQ9UKA2.
PhosphoSitePlusiQ9UKA2.

Polymorphism and mutation databases

DMDMi21263631.

Proteomic databases

EPDiQ9UKA2.
MaxQBiQ9UKA2.
PaxDbiQ9UKA2.
PeptideAtlasiQ9UKA2.
PRIDEiQ9UKA2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000229971; ENSP00000229971; ENSG00000112234.
ENST00000369244; ENSP00000358247; ENSG00000112234.
GeneIDi26235.
KEGGihsa:26235.
UCSCiuc003ppf.2. human.

Organism-specific databases

CTDi26235.
DisGeNETi26235.
GeneCardsiFBXL4.
HGNCiHGNC:13601. FBXL4.
HPAiCAB033362.
HPA029140.
MalaCardsiFBXL4.
MIMi605654. gene.
615471. phenotype.
neXtProtiNX_Q9UKA2.
OpenTargetsiENSG00000112234.
Orphaneti369897. Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies.
PharmGKBiPA28024.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1947. Eukaryota.
ENOG410XQ54. LUCA.
GeneTreeiENSGT00760000119059.
HOGENOMiHOG000006948.
HOVERGENiHBG051588.
InParanoidiQ9UKA2.
KOiK10270.
OMAiTMFYYIC.
OrthoDBiEOG091G06EZ.
PhylomeDBiQ9UKA2.
TreeFamiTF323721.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112234-MONOMER.
ReactomeiR-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.

Miscellaneous databases

ChiTaRSiFBXL4. human.
GenomeRNAii26235.
PROiQ9UKA2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112234.
CleanExiHS_FBXL4.
GenevisibleiQ9UKA2. HS.

Family and domain databases

Gene3Di3.80.10.10. 2 hits.
InterProiIPR001810. F-box_dom.
IPR032675. L_dom-like.
IPR006553. Leu-rich_rpt_Cys-con_subtyp.
[Graphical view]
PfamiPF00646. F-box. 1 hit.
[Graphical view]
SMARTiSM00367. LRR_CC. 7 hits.
[Graphical view]
SUPFAMiSSF81383. SSF81383. 1 hit.
PROSITEiPS50181. FBOX. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFBXL4_HUMAN
AccessioniPrimary (citable) accession number: Q9UKA2
Secondary accession number(s): B2R7Q5
, E1P530, O95919, Q5BJH0, Q9UJU0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: May 27, 2002
Last modified: November 30, 2016
This is version 144 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.