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Q9UKA2

- FBXL4_HUMAN

UniProt

Q9UKA2 - FBXL4_HUMAN

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Protein
F-box/LRR-repeat protein 4
Gene
FBXL4, FBL4, FBL5
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

GO - Biological processi

  1. ubiquitin-dependent protein catabolic process Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Ubl conjugation pathway

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
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:13601. FBXL4.

Subcellular locationi

Cytoplasm. Nucleus. Mitochondrion 3 Publications

GO - Cellular componenti

  1. mitochondrial intermembrane space Source: UniProtKB
  2. nucleus Source: HPA
  3. 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) [MIM:615471]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti205 – 2051I → T in MTDPS13. 1 Publication
VAR_070858
Natural varianti482 – 4821R → W in MTDPS13. 1 Publication
VAR_070859
Natural varianti551 – 5511I → N in MTDPS13. 1 Publication
VAR_070860
Natural varianti565 – 5651D → G in MTDPS13. 1 Publication
VAR_070861
Natural varianti568 – 5681G → A in MTDPS13. 1 Publication
VAR_070862
Natural varianti597 – 5971Q → P in MTDPS13. 1 Publication
VAR_070863

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 621621F-box/LRR-repeat protein 4
PRO_0000119844Add
BLAST

Proteomic databases

MaxQBiQ9UKA2.
PaxDbiQ9UKA2.
PRIDEiQ9UKA2.

PTM databases

PhosphoSiteiQ9UKA2.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9UKA2.
CleanExiHS_FBXL4.
GenevestigatoriQ9UKA2.

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. 5 interactions.
IntActiQ9UKA2. 1 interaction.
STRINGi9606.ENSP00000229971.

Structurei

3D structure databases

ProteinModelPortaliQ9UKA2.
SMRiQ9UKA2. Positions 342-606.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini277 – 33256F-box
Add
BLAST
Repeati376 – 39722LRR 1
Add
BLAST
Repeati402 – 42120LRR 2
Add
BLAST
Repeati427 – 44822LRR 3
Add
BLAST
Repeati452 – 47423LRR 4
Add
BLAST
Repeati480 – 50122LRR 5
Add
BLAST
Repeati504 – 52421LRR 6
Add
BLAST
Repeati532 – 55827LRR 7
Add
BLAST
Repeati559 – 58325LRR 8
Add
BLAST
Repeati584 – 60926LRR 9
Add
BLAST

Sequence similaritiesi

Contains 1 F-box domain.

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiNOG287004.
HOGENOMiHOG000006948.
HOVERGENiHBG051588.
InParanoidiQ9UKA2.
KOiK10270.
OMAiFNHIAKL.
OrthoDBiEOG79GT73.
PhylomeDBiQ9UKA2.
TreeFamiTF323721.

Family and domain databases

InterProiIPR001810. F-box_dom.
IPR006553. Leu-rich_rpt_Cys-con_subtyp.
[Graphical view]
PfamiPF00646. F-box. 1 hit.
[Graphical view]
SMARTiSM00256. FBOX. 1 hit.
SM00367. LRR_CC. 1 hit.
[Graphical view]
SUPFAMiSSF81383. SSF81383. 1 hit.
PROSITEiPS50181. FBOX. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9UKA2-1 [UniParc]FASTAAdd to Basket

« Hide

MSPVFPMLTV LTMFYYICLR RRARTATRGE MMNTHRAIES NSQTSPLNAE    50
VVQYAKEVVD FSSHYGSENS MSYTMWNLAG VPNVFPSSGD FTQTAVFRTY 100
GTWWDQCPSA SLPFKRTPPN FQSQDYVELT FEQQVYPTAV HVLETYHPGA 150
VIRILACSAN PYSPNPPAEV RWEILWSERP TKVNASQARQ FKPCIKQINF 200
PTNLIRLEVN SSLLEYYTEL DAVVLHGVKD KPVLSLKTSL IDMNDIEDDA 250
YAEKDGCGMD SLNKKFSSAV LGEGPNNGYF DKLPYELIQL ILNHLTLPDL 300
CRLAQTCKLL SQHCCDPLQY IHLNLQPYWA KLDDTSLEFL QSRCTLVQWL 350
NLSWTGNRGF ISVAGFSRFL KVCGSELVRL ELSCSHFLNE TCLEVISEMC 400
PNLQALNLSS CDKLPPQAFN HIAKLCSLKR LVLYRTKVEQ TALLSILNFC 450
SELQHLSLGS CVMIEDYDVI ASMIGAKCKK LRTLDLWRCK NITENGIAEL 500
ASGCPLLEEL DLGWCPTLQS STGCFTRLAH QLPNLQKLFL TANRSVCDTD 550
IDELACNCTR LQQLDILGTR MVSPASLRKL LESCKDLSLL DVSFCSQIDN 600
RAVLELNASF PKVFIKKSFT Q 621
Length:621
Mass (Da):70,097
Last modified:May 27, 2002 - v2
Checksum:iD8FD51A5C4F922D3
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti205 – 2051I → T in MTDPS13. 1 Publication
VAR_070858
Natural varianti482 – 4821R → W in MTDPS13. 1 Publication
VAR_070859
Natural varianti551 – 5511I → N in MTDPS13. 1 Publication
VAR_070860
Natural varianti565 – 5651D → G in MTDPS13. 1 Publication
VAR_070861
Natural varianti568 – 5681G → A in MTDPS13. 1 Publication
VAR_070862
Natural varianti597 – 5971Q → P in MTDPS13. 1 Publication
VAR_070863

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti5 – 51F → Y in AAF03699. 1 Publication
Sequence conflicti42 – 421S → G in AAF09247. 1 Publication
Sequence conflicti122 – 1221Q → K in AAF03699. 1 Publication
Sequence conflicti126 – 1261Y → I in AAF03699. 1 Publication
Sequence conflicti219 – 2191E → G in AAF03699. 1 Publication
Sequence conflicti232 – 2321P → A in AAF03699. 1 Publication
Sequence conflicti533 – 5331P → L in BAG35902. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006715521.1. XM_006715458.1.
UniGeneiHs.536850.

Genome annotation databases

EnsembliENST00000229971; ENSP00000229971; ENSG00000112234.
ENST00000369244; ENSP00000358247; ENSG00000112234.
GeneIDi26235.
KEGGihsa:26235.
UCSCiuc003ppf.1. human.

Polymorphism databases

DMDMi21263631.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS5041.1.
RefSeqi NP_001265645.1. NM_001278716.1.
NP_036292.2. NM_012160.4.
XP_006715521.1. XM_006715458.1.
UniGenei Hs.536850.

3D structure databases

ProteinModelPortali Q9UKA2.
SMRi Q9UKA2. Positions 342-606.
ModBasei Search...

Protein-protein interaction databases

BioGridi 117626. 5 interactions.
IntActi Q9UKA2. 1 interaction.
STRINGi 9606.ENSP00000229971.

PTM databases

PhosphoSitei Q9UKA2.

Polymorphism databases

DMDMi 21263631.

Proteomic databases

MaxQBi Q9UKA2.
PaxDbi Q9UKA2.
PRIDEi Q9UKA2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000229971 ; ENSP00000229971 ; ENSG00000112234 .
ENST00000369244 ; ENSP00000358247 ; ENSG00000112234 .
GeneIDi 26235.
KEGGi hsa:26235.
UCSCi uc003ppf.1. human.

Organism-specific databases

CTDi 26235.
GeneCardsi GC06M099367.
HGNCi HGNC:13601. FBXL4.
HPAi CAB033362.
HPA029140.
MIMi 605654. gene.
615471. phenotype.
neXtProti NX_Q9UKA2.
Orphaneti 369897. Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies.
PharmGKBi PA28024.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG287004.
HOGENOMi HOG000006948.
HOVERGENi HBG051588.
InParanoidi Q9UKA2.
KOi K10270.
OMAi FNHIAKL.
OrthoDBi EOG79GT73.
PhylomeDBi Q9UKA2.
TreeFami TF323721.

Miscellaneous databases

ChiTaRSi FBXL4. human.
GenomeRNAii 26235.
NextBioi 35467702.
PROi Q9UKA2.
SOURCEi Search...

Gene expression databases

Bgeei Q9UKA2.
CleanExi HS_FBXL4.
Genevestigatori Q9UKA2.

Family and domain databases

InterProi IPR001810. F-box_dom.
IPR006553. Leu-rich_rpt_Cys-con_subtyp.
[Graphical view ]
Pfami PF00646. F-box. 1 hit.
[Graphical view ]
SMARTi SM00256. FBOX. 1 hit.
SM00367. LRR_CC. 1 hit.
[Graphical view ]
SUPFAMi SSF81383. SSF81383. 1 hit.
PROSITEi PS50181. FBOX. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "cDNA cloning and expression analysis of new members of the mammalian F-box protein family."
    Ilyin G.P., Rialland M., Pigeon C., Guguen-Guillouzo C.
    Genomics 67:40-47(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Hippocampus.
  5. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Eye and PNS.
  8. Cited for: SUBCELLULAR LOCATION, INVOLVEMENT IN MTDPS13.
  9. Cited for: SUBCELLULAR LOCATION, VARIANTS MTDPS13 THR-205; TRP-482; ASN-551; GLY-565; ALA-568 AND PRO-597.

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: September 3, 2014
This is version 120 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

External Data

Dasty 3

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