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Q9NXK8

- FXL12_HUMAN

UniProt

Q9NXK8 - FXL12_HUMAN

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Protein

F-box/LRR-repeat protein 12

Gene
FBXL12, FBL12
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 4747F-boxAdd
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.

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. VSP_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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 107 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

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