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Protein

F-box/LRR-repeat protein 4

Gene

FBXL4

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

Functioni

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processUbl conjugation pathway

Enzyme and pathway databases

ReactomeiR-HSA-8951664 Neddylation
R-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

EuPathDBiHostDB:ENSG00000112234.8
HGNCiHGNC:13601 FBXL4
MIMi605654 gene
neXtProtiNX_Q9UKA2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 PublicationCorresponds to variant dbSNP:rs1350566881Ensembl.1
Natural variantiVAR_076547481L → P in MTDPS13. 1 PublicationCorresponds to variant dbSNP:rs772037717EnsemblClinVar.1
Natural variantiVAR_070859482R → W in MTDPS13. 1 PublicationCorresponds to variant dbSNP:rs398123061EnsemblClinVar.1
Natural variantiVAR_070860551I → N in MTDPS13. 1 Publication1
Natural variantiVAR_070861565D → G in MTDPS13. 1 PublicationCorresponds to variant dbSNP:rs398123062EnsemblClinVar.1
Natural variantiVAR_070862568G → A in MTDPS13. 1 PublicationCorresponds to variant dbSNP:rs398123060EnsemblClinVar.1
Natural variantiVAR_070863597Q → P in MTDPS13. 1 PublicationCorresponds to variant dbSNP:rs201989042EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

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
ProteomicsDBi84750

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 Expressed in 205 organ(s), highest expression level in kidney
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, 43 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

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
InterProiView protein in InterPro
IPR036047 F-box-like_dom_sf
IPR001810 F-box_dom
IPR006553 Leu-rich_rpt_Cys-con_subtyp
IPR032675 LRR_dom_sf
PfamiView protein in Pfam
PF00646 F-box, 1 hit
SMARTiView protein in SMART
SM00367 LRR_CC, 7 hits
SUPFAMiSSF81383 SSF81383, 1 hit
PROSITEiView protein in PROSITE
PS50181 FBOX, 1 hit

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 PublicationCorresponds to variant dbSNP:rs1350566881Ensembl.1
Natural variantiVAR_076547481L → P in MTDPS13. 1 PublicationCorresponds to variant dbSNP:rs772037717EnsemblClinVar.1
Natural variantiVAR_070859482R → W in MTDPS13. 1 PublicationCorresponds to variant dbSNP:rs398123061EnsemblClinVar.1
Natural variantiVAR_070860551I → N in MTDPS13. 1 Publication1
Natural variantiVAR_070861565D → G in MTDPS13. 1 PublicationCorresponds to variant dbSNP:rs398123062EnsemblClinVar.1
Natural variantiVAR_070862568G → A in MTDPS13. 1 PublicationCorresponds to variant dbSNP:rs398123060EnsemblClinVar.1
Natural variantiVAR_070863597Q → P in MTDPS13. 1 PublicationCorresponds to variant dbSNP:rs201989042EnsemblClinVar.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 No translation available.
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

Similar proteinsi

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 No translation available.
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, 43 interactors
IntActiQ9UKA2, 6 interactors
STRINGi9606.ENSP00000229971

PTM databases

iPTMnetiQ9UKA2
PhosphoSitePlusiQ9UKA2

Polymorphism and mutation databases

DMDMi21263631

Proteomic databases

EPDiQ9UKA2
MaxQBiQ9UKA2
PaxDbiQ9UKA2
PeptideAtlasiQ9UKA2
PRIDEiQ9UKA2
ProteomicsDBi84750

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
EuPathDBiHostDB:ENSG00000112234.8
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

ReactomeiR-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

Miscellaneous databases

ChiTaRSiFBXL4 human
GenomeRNAii26235
PROiPR:Q9UKA2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112234 Expressed in 205 organ(s), highest expression level in kidney
CleanExiHS_FBXL4
GenevisibleiQ9UKA2 HS

Family and domain databases

Gene3Di3.80.10.10, 2 hits
InterProiView protein in InterPro
IPR036047 F-box-like_dom_sf
IPR001810 F-box_dom
IPR006553 Leu-rich_rpt_Cys-con_subtyp
IPR032675 LRR_dom_sf
PfamiView protein in Pfam
PF00646 F-box, 1 hit
SMARTiView protein in SMART
SM00367 LRR_CC, 7 hits
SUPFAMiSSF81383 SSF81383, 1 hit
PROSITEiView protein in PROSITE
PS50181 FBOX, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFBXL4_HUMAN
AccessioniPrimary (citable) accession number: Q9UKA2
Secondary accession number(s): B2R7Q5
, E1P530, O95919, Q5BJH0, Q9UJU0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: May 27, 2002
Last modified: October 10, 2018
This is version 156 of the entry and version 2 of the sequence. See 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
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Main funding by: National Institutes of Health

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