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Q9UKA2

- FBXL4_HUMAN

UniProt

Q9UKA2 - FBXL4_HUMAN

Protein

F-box/LRR-repeat protein 4

Gene

FBXL4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 2 (27 May 2002)
      Previous versions | rss
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    Functioni

    GO - Biological processi

    1. ubiquitin-dependent protein catabolic process Source: ProtInc

    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

    GO - Cellular componenti

    1. mitochondrial intermembrane space Source: UniProtKB
    2. nucleus Source: HPA
    3. ubiquitin ligase complex Source: ProtInc

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 4PRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

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

    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

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti5 – 51F → Y in AAF03699. (PubMed:10531037)Curated
    Sequence conflicti42 – 421S → G in AAF09247. (PubMed:10945468)Curated
    Sequence conflicti122 – 1221Q → K in AAF03699. (PubMed:10531037)Curated
    Sequence conflicti126 – 1261Y → I in AAF03699. (PubMed:10531037)Curated
    Sequence conflicti219 – 2191E → G in AAF03699. (PubMed:10531037)Curated
    Sequence conflicti232 – 2321P → A in AAF03699. (PubMed:10531037)Curated
    Sequence conflicti533 – 5331P → L in BAG35902. (PubMed:14702039)Curated

    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 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...
    MobiDBi 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

    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: October 1, 2014
    This is version 121 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