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Q9NXK8

- FXL12_HUMAN

UniProt

Q9NXK8 - FXL12_HUMAN

Protein

F-box/LRR-repeat protein 12

Gene

FBXL12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Mediates the polyubiquitination and proteasomal degradation of CAMK1 leading to disruption of cyclin D1/CDK4 complex assembly which results in G1 cell cycle arrest in lung epithelia.1 Publication

    Pathwayi

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. protein ubiquitination Source: UniProtKB-UniPathway
    2. ubiquitin-dependent protein catabolic process Source: Ensembl

    Keywords - Biological processi

    Ubl conjugation pathway

    Enzyme and pathway databases

    UniPathwayiUPA00143.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    F-box/LRR-repeat protein 12
    Alternative name(s):
    F-box and leucine-rich repeat protein 12
    F-box protein FBL12
    Gene namesi
    Name:FBXL12
    Synonyms:FBL12
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:13611. FBXL12.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: Ensembl
    2. ubiquitin ligase complex Source: Ensembl

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134934043.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 326326F-box/LRR-repeat protein 12PRO_0000119857Add
    BLAST

    Proteomic databases

    MaxQBiQ9NXK8.
    PaxDbiQ9NXK8.
    PeptideAtlasiQ9NXK8.
    PRIDEiQ9NXK8.

    PTM databases

    PhosphoSiteiQ9NXK8.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NXK8.
    BgeeiQ9NXK8.
    CleanExiHS_FBXL12.
    GenevestigatoriQ9NXK8.

    Organism-specific databases

    HPAiHPA002843.

    Interactioni

    Subunit structurei

    Interacts with SKP1 and CUL1.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CDKN1CP499186EBI-719790,EBI-519256
    RNF32Q9H0A62EBI-719790,EBI-724829

    Protein-protein interaction databases

    BioGridi120200. 19 interactions.
    IntActiQ9NXK8. 10 interactions.
    MINTiMINT-1409594.
    STRINGi9606.ENSP00000247977.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NXK8.
    SMRiQ9NXK8. Positions 7-65, 124-213, 225-316.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1 – 4747F-boxPROSITE-ProRule annotationAdd
    BLAST
    Repeati51 – 7828LRR 1Add
    BLAST
    Repeati86 – 11126LRR 2Add
    BLAST
    Repeati113 – 13321LRR 3Add
    BLAST
    Repeati161 – 18525LRR 4Add
    BLAST
    Repeati186 – 21126LRR 5Add
    BLAST
    Repeati212 – 23625LRR 6Add
    BLAST
    Repeati237 – 26125LRR 7Add
    BLAST
    Repeati266 – 29126LRR 8Add
    BLAST

    Sequence similaritiesi

    Contains 1 F-box domain.PROSITE-ProRule annotation
    Contains 8 LRR (leucine-rich) repeats.Curated

    Keywords - Domaini

    Leucine-rich repeat, Repeat

    Phylogenomic databases

    eggNOGiNOG113187.
    HOGENOMiHOG000112675.
    HOVERGENiHBG051672.
    InParanoidiQ9NXK8.
    KOiK10278.
    OMAiEMPSPAE.
    PhylomeDBiQ9NXK8.
    TreeFamiTF313434.

    Family and domain databases

    InterProiIPR001810. F-box_dom.
    [Graphical view]
    PfamiPF12937. F-box-like. 1 hit.
    [Graphical view]
    SMARTiSM00256. FBOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF81383. SSF81383. 1 hit.
    PROSITEiPS50181. FBOX. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NXK8-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MATLVELPDS VLLEIFSYLP VRDRIRISRV CHRWKRLVDD RWLWRHVDLT    50
    LYTMRPKVMW HLLRRYMASR LHSLRMGGYL FSGSQAPQLS PALLRALGQK 100
    CPNLKRLCLH VADLSMVPIT SLPSTLRTLE LHSCEISMAW LHKQQDPTVL 150
    PLLECIVLDR VPAFRDEHLQ GLTRFRALRS LVLGGTYRVT ETGLDAGLQE 200
    LSYLQRLEVL GCTLSADSTL LAISRHLRDV RKIRLTVRGL SAPGLAVLEG 250
    MPALESLCLQ GPLVTPEMPS PTEILSSCLT MPKLRVLELQ GLGWEGQEAE 300
    KILCKGLPHC MVIVRACPKE SMDWWM 326
    Length:326
    Mass (Da):37,026
    Last modified:October 1, 2000 - v1
    Checksum:i1BC5C2A40CB91D68
    GO
    Isoform 2 (identifier: Q9NXK8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-53: Missing.

    Show »
    Length:273
    Mass (Da):30,491
    Checksum:i87CDD76DE2301514
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti63 – 631L → H Found in a renal cell carcinoma case; somatic mutation. 1 Publication
    VAR_064712

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 5353Missing in isoform 2. 1 PublicationVSP_008859Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000195 mRNA. Translation: BAA91002.1.
    AK027004 mRNA. Translation: BAB15622.1.
    AK093760 mRNA. Translation: BAG52760.1.
    CH471106 Genomic DNA. Translation: EAW84051.1.
    BC001586 mRNA. Translation: AAH01586.1.
    CCDSiCCDS12218.1. [Q9NXK8-1]
    RefSeqiNP_060173.1. NM_017703.1. [Q9NXK8-1]
    XP_005260021.1. XM_005259964.1. [Q9NXK8-2]
    XP_005260022.1. XM_005259965.1. [Q9NXK8-2]
    XP_005260023.1. XM_005259966.1. [Q9NXK8-2]
    XP_006722845.1. XM_006722782.1. [Q9NXK8-2]
    UniGeneiHs.12439.

    Genome annotation databases

    EnsembliENST00000247977; ENSP00000247977; ENSG00000127452. [Q9NXK8-1]
    ENST00000585379; ENSP00000467359; ENSG00000127452. [Q9NXK8-2]
    ENST00000591009; ENSP00000468369; ENSG00000127452. [Q9NXK8-2]
    GeneIDi54850.
    KEGGihsa:54850.
    UCSCiuc002mmd.3. human. [Q9NXK8-1]

    Polymorphism databases

    DMDMi38257780.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000195 mRNA. Translation: BAA91002.1 .
    AK027004 mRNA. Translation: BAB15622.1 .
    AK093760 mRNA. Translation: BAG52760.1 .
    CH471106 Genomic DNA. Translation: EAW84051.1 .
    BC001586 mRNA. Translation: AAH01586.1 .
    CCDSi CCDS12218.1. [Q9NXK8-1 ]
    RefSeqi NP_060173.1. NM_017703.1. [Q9NXK8-1 ]
    XP_005260021.1. XM_005259964.1. [Q9NXK8-2 ]
    XP_005260022.1. XM_005259965.1. [Q9NXK8-2 ]
    XP_005260023.1. XM_005259966.1. [Q9NXK8-2 ]
    XP_006722845.1. XM_006722782.1. [Q9NXK8-2 ]
    UniGenei Hs.12439.

    3D structure databases

    ProteinModelPortali Q9NXK8.
    SMRi Q9NXK8. Positions 7-65, 124-213, 225-316.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120200. 19 interactions.
    IntActi Q9NXK8. 10 interactions.
    MINTi MINT-1409594.
    STRINGi 9606.ENSP00000247977.

    PTM databases

    PhosphoSitei Q9NXK8.

    Polymorphism databases

    DMDMi 38257780.

    Proteomic databases

    MaxQBi Q9NXK8.
    PaxDbi Q9NXK8.
    PeptideAtlasi Q9NXK8.
    PRIDEi Q9NXK8.

    Protocols and materials databases

    DNASUi 54850.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000247977 ; ENSP00000247977 ; ENSG00000127452 . [Q9NXK8-1 ]
    ENST00000585379 ; ENSP00000467359 ; ENSG00000127452 . [Q9NXK8-2 ]
    ENST00000591009 ; ENSP00000468369 ; ENSG00000127452 . [Q9NXK8-2 ]
    GeneIDi 54850.
    KEGGi hsa:54850.
    UCSCi uc002mmd.3. human. [Q9NXK8-1 ]

    Organism-specific databases

    CTDi 54850.
    GeneCardsi GC19M009920.
    H-InvDB HIX0014728.
    HIX0174428.
    HGNCi HGNC:13611. FBXL12.
    HPAi HPA002843.
    MIMi 609079. gene.
    neXtProti NX_Q9NXK8.
    PharmGKBi PA134934043.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG113187.
    HOGENOMi HOG000112675.
    HOVERGENi HBG051672.
    InParanoidi Q9NXK8.
    KOi K10278.
    OMAi EMPSPAE.
    PhylomeDBi Q9NXK8.
    TreeFami TF313434.

    Enzyme and pathway databases

    UniPathwayi UPA00143 .

    Miscellaneous databases

    GenomeRNAii 54850.
    NextBioi 57696.
    PROi Q9NXK8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NXK8.
    Bgeei Q9NXK8.
    CleanExi HS_FBXL12.
    Genevestigatori Q9NXK8.

    Family and domain databases

    InterProi IPR001810. F-box_dom.
    [Graphical view ]
    Pfami PF12937. F-box-like. 1 hit.
    [Graphical view ]
    SMARTi SM00256. FBOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF81383. SSF81383. 1 hit.
    PROSITEi PS50181. FBOX. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORMS 1 AND 2).
      Tissue: Colon mucosa and Thymus.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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] (ISOFORM 1).
      Tissue: Lymph.
    4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    5. "Fbxl12 triggers G1 arrest by mediating degradation of calmodulin kinase I."
      Mallampalli R.K., Kaercher L., Snavely C., Pulijala R., Chen B.B., Coon T., Zhao J., Agassandian M.
      Cell. Signal. 25:2047-2059(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    6. Cited for: VARIANT HIS-63.

    Entry informationi

    Entry nameiFXL12_HUMAN
    AccessioniPrimary (citable) accession number: Q9NXK8
    Secondary accession number(s): B3KSJ8, Q9H5K4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 7, 2003
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 108 of the entry and version 1 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 19
      Human chromosome 19: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3