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Q9NXK8 (FXL12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
F-box/LRR-repeat protein 12
Alternative name(s):
F-box and leucine-rich repeat protein 12
F-box protein FBL12
Gene names
Name:FBXL12
Synonyms:FBL12
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length326 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.5

Pathway

Protein modification; protein ubiquitination.

Subunit structure

Interacts with SKP1 and CUL1 By similarity.

Sequence similarities

Contains 1 F-box domain.

Contains 8 LRR (leucine-rich) repeats.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CDKN1CP499186EBI-719790,EBI-519256
RNF32Q9H0A62EBI-719790,EBI-724829

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NXK8-1)

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.
Isoform 2 (identifier: Q9NXK8-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 326326F-box/LRR-repeat protein 12
PRO_0000119857

Regions

Domain1 – 4747F-box
Repeat51 – 7828LRR 1
Repeat86 – 11126LRR 2
Repeat113 – 13321LRR 3
Repeat161 – 18525LRR 4
Repeat186 – 21126LRR 5
Repeat212 – 23625LRR 6
Repeat237 – 26125LRR 7
Repeat266 – 29126LRR 8

Natural variations

Alternative sequence1 – 5353Missing in isoform 2.
VSP_008859
Natural variant631L → H Found in a renal cell carcinoma case; somatic mutation. Ref.6
VAR_064712

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 1BC5C2A40CB91D68

FASTA32637,026
        10         20         30         40         50         60 
MATLVELPDS VLLEIFSYLP VRDRIRISRV CHRWKRLVDD RWLWRHVDLT LYTMRPKVMW 

        70         80         90        100        110        120 
HLLRRYMASR LHSLRMGGYL FSGSQAPQLS PALLRALGQK CPNLKRLCLH VADLSMVPIT 

       130        140        150        160        170        180 
SLPSTLRTLE LHSCEISMAW LHKQQDPTVL PLLECIVLDR VPAFRDEHLQ GLTRFRALRS 

       190        200        210        220        230        240 
LVLGGTYRVT ETGLDAGLQE LSYLQRLEVL GCTLSADSTL LAISRHLRDV RKIRLTVRGL 

       250        260        270        280        290        300 
SAPGLAVLEG MPALESLCLQ GPLVTPEMPS PTEILSSCLT MPKLRVLELQ GLGWEGQEAE 

       310        320 
KILCKGLPHC MVIVRACPKE SMDWWM 

« Hide

Isoform 2 [UniParc].

Checksum: 87CDD76DE2301514
Show »

FASTA27330,491

References

« Hide 'large scale' references
[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. 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] (ISOFORMS 1 AND 2).
Tissue: Colon mucosa and Thymus.
[2]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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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]"Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma."
Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H., Jones D., Lin M.L., Teague J., Bignell G., Butler A., Cho J., Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., Jia M. expand/collapse author list , Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A., Mudie L., Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S., Kahnoski R.J., Anema J., Tuveson D.A., Perez-Mancera P.A., Mustonen V., Fischer A., Adams D.J., Rust A., Chan-On W., Subimerb C., Dykema K., Furge K., Campbell P.J., Teh B.T., Stratton M.R., Futreal P.A.
Nature 469:539-542(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HIS-63.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_060173.1. NM_017703.1.
XP_005260021.1. XM_005259964.1.
XP_005260022.1. XM_005259965.1.
XP_005260023.1. XM_005259966.1.
UniGeneHs.12439.

3D structure databases

ProteinModelPortalQ9NXK8.
SMRQ9NXK8. Positions 5-44, 147-312.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120200. 19 interactions.
IntActQ9NXK8. 10 interactions.
MINTMINT-1409594.
STRING9606.ENSP00000247977.

PTM databases

PhosphoSiteQ9NXK8.

Polymorphism databases

DMDM38257780.

Proteomic databases

PaxDbQ9NXK8.
PeptideAtlasQ9NXK8.
PRIDEQ9NXK8.

Protocols and materials databases

DNASU54850.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000247977; ENSP00000247977; ENSG00000127452. [Q9NXK8-1]
ENST00000585379; ENSP00000467359; ENSG00000127452. [Q9NXK8-2]
ENST00000591009; ENSP00000468369; ENSG00000127452. [Q9NXK8-2]
GeneID54850.
KEGGhsa:54850.
UCSCuc002mmd.3. human. [Q9NXK8-1]

Organism-specific databases

CTD54850.
GeneCardsGC19M009920.
H-InvDBHIX0014728.
HIX0174428.
HGNCHGNC:13611. FBXL12.
HPAHPA002843.
MIM609079. gene.
neXtProtNX_Q9NXK8.
PharmGKBPA134934043.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG113187.
HOGENOMHOG000112675.
HOVERGENHBG051672.
InParanoidQ9NXK8.
KOK10278.
OMAISMAWLL.
PhylomeDBQ9NXK8.
TreeFamTF313434.

Enzyme and pathway databases

UniPathwayUPA00143.

Gene expression databases

ArrayExpressQ9NXK8.
BgeeQ9NXK8.
CleanExHS_FBXL12.
GenevestigatorQ9NXK8.

Family and domain databases

InterProIPR001810. F-box_dom.
[Graphical view]
SMARTSM00256. FBOX. 1 hit.
[Graphical view]
SUPFAMSSF81383. SSF81383. 1 hit.
PROSITEPS50181. FBOX. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi54850.
NextBio57696.
PROQ9NXK8.
SOURCESearch...

Entry information

Entry nameFXL12_HUMAN
AccessionPrimary (citable) accession number: Q9NXK8
Secondary accession number(s): B3KSJ8, Q9H5K4
Entry history
Integrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 104 of the entry and version 1 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

PATHWAY comments

Index of metabolic and biosynthesis pathways

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 19

Human chromosome 19: entries, gene names and cross-references to MIM