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Q9UKA2 (FBXL4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
F-box/LRR-repeat protein 4
Alternative name(s):
F-box and leucine-rich repeat protein 4
F-box protein FBL4/FBL5
Gene names
Name:FBXL4
Synonyms:FBL4, FBL5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length621 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

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

Subcellular location

Cytoplasm. Nucleus. Mitochondrion Ref.1 Ref.8 Ref.9.

Tissue specificity

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

Involvement in disease

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. Ref.8 Ref.9

Sequence similarities

Contains 1 F-box domain.

Contains 9 LRR (leucine-rich) repeats.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 621621F-box/LRR-repeat protein 4
PRO_0000119844

Regions

Domain277 – 33256F-box
Repeat376 – 39722LRR 1
Repeat402 – 42120LRR 2
Repeat427 – 44822LRR 3
Repeat452 – 47423LRR 4
Repeat480 – 50122LRR 5
Repeat504 – 52421LRR 6
Repeat532 – 55827LRR 7
Repeat559 – 58325LRR 8
Repeat584 – 60926LRR 9

Natural variations

Natural variant2051I → T in MTDPS13. Ref.9
VAR_070858
Natural variant4821R → W in MTDPS13. Ref.9
VAR_070859
Natural variant5511I → N in MTDPS13. Ref.9
VAR_070860
Natural variant5651D → G in MTDPS13. Ref.9
VAR_070861
Natural variant5681G → A in MTDPS13. Ref.9
VAR_070862
Natural variant5971Q → P in MTDPS13. Ref.9
VAR_070863

Experimental info

Sequence conflict51F → Y in AAF03699. Ref.1
Sequence conflict421S → G in AAF09247. Ref.3
Sequence conflict1221Q → K in AAF03699. Ref.1
Sequence conflict1261Y → I in AAF03699. Ref.1
Sequence conflict2191E → G in AAF03699. Ref.1
Sequence conflict2321P → A in AAF03699. Ref.1
Sequence conflict5331P → L in BAG35902. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q9UKA2 [UniParc].

Last modified May 27, 2002. Version 2.
Checksum: D8FD51A5C4F922D3

FASTA62170,097
        10         20         30         40         50         60 
MSPVFPMLTV LTMFYYICLR RRARTATRGE MMNTHRAIES NSQTSPLNAE VVQYAKEVVD 

        70         80         90        100        110        120 
FSSHYGSENS MSYTMWNLAG VPNVFPSSGD FTQTAVFRTY GTWWDQCPSA SLPFKRTPPN 

       130        140        150        160        170        180 
FQSQDYVELT FEQQVYPTAV HVLETYHPGA VIRILACSAN PYSPNPPAEV RWEILWSERP 

       190        200        210        220        230        240 
TKVNASQARQ FKPCIKQINF PTNLIRLEVN SSLLEYYTEL DAVVLHGVKD KPVLSLKTSL 

       250        260        270        280        290        300 
IDMNDIEDDA YAEKDGCGMD SLNKKFSSAV LGEGPNNGYF DKLPYELIQL ILNHLTLPDL 

       310        320        330        340        350        360 
CRLAQTCKLL SQHCCDPLQY IHLNLQPYWA KLDDTSLEFL QSRCTLVQWL NLSWTGNRGF 

       370        380        390        400        410        420 
ISVAGFSRFL KVCGSELVRL ELSCSHFLNE TCLEVISEMC PNLQALNLSS CDKLPPQAFN 

       430        440        450        460        470        480 
HIAKLCSLKR LVLYRTKVEQ TALLSILNFC SELQHLSLGS CVMIEDYDVI ASMIGAKCKK 

       490        500        510        520        530        540 
LRTLDLWRCK NITENGIAEL ASGCPLLEEL DLGWCPTLQS STGCFTRLAH QLPNLQKLFL 

       550        560        570        580        590        600 
TANRSVCDTD IDELACNCTR LQQLDILGTR MVSPASLRKL LESCKDLSLL DVSFCSQIDN 

       610        620 
RAVLELNASF PKVFIKKSFT Q 

« Hide

References

« Hide 'large scale' references
[1]"A family of mammalian F-box proteins."
Winston J.T., Koepp D.M., Zhu C., Elledge S.J., Harper J.W.
Curr. Biol. 9:1180-1182(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
[2]"Identification of a family of human F-box proteins."
Cenciarelli C., Chiaur D.S., Guardavaccaro D., Parks W., Vidal M., Pagano M.
Curr. Biol. 9:1177-1179(1999) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance."
Bonnen P.E., Yarham J.W., Besse A., Wu P., Faqeih E.A., Al-Asmari A.M., Saleh M.A., Eyaid W., Hadeel A., He L., Smith F., Yau S., Simcox E.M., Miwa S., Donti T., Abu-Amero K.K., Wong L.J., Craigen W.J. expand/collapse author list , Graham B.H., Scott K.L., McFarland R., Taylor R.W.
Am. J. Hum. Genet. 93:471-481(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, INVOLVEMENT IN MTDPS13.
[9]"Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy."
Gai X., Ghezzi D., Johnson M.A., Biagosch C.A., Shamseldin H.E., Haack T.B., Reyes A., Tsukikawa M., Sheldon C.A., Srinivasan S., Gorza M., Kremer L.S., Wieland T., Strom T.M., Polyak E., Place E., Consugar M., Ostrovsky J. expand/collapse author list , Vidoni S., Robinson A.J., Wong L.J., Sondheimer N., Salih M.A., Al-Jishi E., Raab C.P., Bean C., Furlan F., Parini R., Lamperti C., Mayr J.A., Konstantopoulou V., Huemer M., Pierce E.A., Meitinger T., Freisinger P., Sperl W., Prokisch H., Alkuraya F.S., Falk M.J., Zeviani M.
Am. J. Hum. Genet. 93:482-495(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, VARIANTS MTDPS13 THR-205; TRP-482; ASN-551; GLY-565; ALA-568 AND PRO-597.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS5041.1.
RefSeqNP_001265645.1. NM_001278716.1.
NP_036292.2. NM_012160.4.
XP_006715521.1. XM_006715458.1.
UniGeneHs.536850.

3D structure databases

ProteinModelPortalQ9UKA2.
SMRQ9UKA2. Positions 342-606.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117626. 5 interactions.
IntActQ9UKA2. 1 interaction.
STRING9606.ENSP00000229971.

PTM databases

PhosphoSiteQ9UKA2.

Polymorphism databases

DMDM21263631.

Proteomic databases

MaxQBQ9UKA2.
PaxDbQ9UKA2.
PRIDEQ9UKA2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000229971; ENSP00000229971; ENSG00000112234.
ENST00000369244; ENSP00000358247; ENSG00000112234.
GeneID26235.
KEGGhsa:26235.
UCSCuc003ppf.1. human.

Organism-specific databases

CTD26235.
GeneCardsGC06M099367.
HGNCHGNC:13601. FBXL4.
HPACAB033362.
HPA029140.
MIM605654. gene.
615471. phenotype.
neXtProtNX_Q9UKA2.
Orphanet369897. Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies.
PharmGKBPA28024.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG287004.
HOGENOMHOG000006948.
HOVERGENHBG051588.
InParanoidQ9UKA2.
KOK10270.
OMAFNHIAKL.
OrthoDBEOG79GT73.
PhylomeDBQ9UKA2.
TreeFamTF323721.

Gene expression databases

BgeeQ9UKA2.
CleanExHS_FBXL4.
GenevestigatorQ9UKA2.

Family and domain databases

InterProIPR001810. F-box_dom.
IPR006553. Leu-rich_rpt_Cys-con_subtyp.
[Graphical view]
PfamPF00646. F-box. 1 hit.
[Graphical view]
SMARTSM00256. FBOX. 1 hit.
SM00367. LRR_CC. 1 hit.
[Graphical view]
SUPFAMSSF81383. SSF81383. 1 hit.
PROSITEPS50181. FBOX. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSFBXL4. human.
GenomeRNAi26235.
NextBio48423.
PROQ9UKA2.
SOURCESearch...

Entry information

Entry nameFBXL4_HUMAN
AccessionPrimary (citable) accession number: Q9UKA2
Secondary accession number(s): B2R7Q5 expand/collapse secondary AC list , E1P530, O95919, Q5BJH0, Q9UJU0
Entry history
Integrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: May 27, 2002
Last modified: July 9, 2014
This is version 119 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM