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Protein

F-box/LRR-repeat protein 12

Gene

FBXL12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Ubl conjugation pathway

Enzyme and pathway databases

BioCyciZFISH:ENSG00000127452-MONOMER.
ReactomeiR-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.
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
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:13611. FBXL12.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000127452.
PharmGKBiPA134934043.

Polymorphism and mutation databases

BioMutaiFBXL12.
DMDMi38257780.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001198571 – 326F-box/LRR-repeat protein 12Add BLAST326

Proteomic databases

EPDiQ9NXK8.
MaxQBiQ9NXK8.
PaxDbiQ9NXK8.
PeptideAtlasiQ9NXK8.
PRIDEiQ9NXK8.

PTM databases

iPTMnetiQ9NXK8.
PhosphoSitePlusiQ9NXK8.

Expressioni

Gene expression databases

BgeeiENSG00000127452.
CleanExiHS_FBXL12.
ExpressionAtlasiQ9NXK8. baseline and differential.
GenevisibleiQ9NXK8. HS.

Organism-specific databases

HPAiHPA002843.

Interactioni

Subunit structurei

Interacts with SKP1 and CUL1.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
CDKN1CP499186EBI-719790,EBI-519256
DOCK8Q8NF50-23EBI-719790,EBI-10174653
LNX1Q8TBB13EBI-719790,EBI-739832
RNF32Q9H0A62EBI-719790,EBI-724829
SKP1P632084EBI-719790,EBI-307486

Protein-protein interaction databases

BioGridi120200. 35 interactors.
IntActiQ9NXK8. 13 interactors.
MINTiMINT-1409594.
STRINGi9606.ENSP00000247977.

Structurei

3D structure databases

ProteinModelPortaliQ9NXK8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 47F-boxPROSITE-ProRule annotationAdd BLAST47
Repeati51 – 78LRR 1Add BLAST28
Repeati86 – 111LRR 2Add BLAST26
Repeati113 – 133LRR 3Add BLAST21
Repeati161 – 185LRR 4Add BLAST25
Repeati186 – 211LRR 5Add BLAST26
Repeati212 – 236LRR 6Add BLAST25
Repeati237 – 261LRR 7Add BLAST25
Repeati266 – 291LRR 8Add BLAST26

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

eggNOGiENOG410IT1J. Eukaryota.
ENOG4111Z4R. LUCA.
GeneTreeiENSGT00390000003354.
HOGENOMiHOG000112675.
HOVERGENiHBG051672.
InParanoidiQ9NXK8.
KOiK10278.
OMAiISMAWLL.
OrthoDBiEOG091G0AP2.
PhylomeDBiQ9NXK8.
TreeFamiTF313434.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR001810. F-box_dom.
IPR032675. L_dom-like.
[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. AlignAdd to basket

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

        10         20         30         40         50
MATLVELPDS VLLEIFSYLP VRDRIRISRV CHRWKRLVDD RWLWRHVDLT
60 70 80 90 100
LYTMRPKVMW HLLRRYMASR LHSLRMGGYL FSGSQAPQLS PALLRALGQK
110 120 130 140 150
CPNLKRLCLH VADLSMVPIT SLPSTLRTLE LHSCEISMAW LHKQQDPTVL
160 170 180 190 200
PLLECIVLDR VPAFRDEHLQ GLTRFRALRS LVLGGTYRVT ETGLDAGLQE
210 220 230 240 250
LSYLQRLEVL GCTLSADSTL LAISRHLRDV RKIRLTVRGL SAPGLAVLEG
260 270 280 290 300
MPALESLCLQ GPLVTPEMPS PTEILSSCLT MPKLRVLELQ GLGWEGQEAE
310 320
KILCKGLPHC MVIVRACPKE SMDWWM
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_06471263L → H Found in a renal cell carcinoma case; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0088591 – 53Missing in isoform 2. 1 PublicationAdd BLAST53

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
CCDS82287.1. [Q9NXK8-2]
RefSeqiNP_001303865.1. NM_001316936.1.
NP_001303866.1. NM_001316937.1. [Q9NXK8-2]
NP_001303867.1. NM_001316938.1. [Q9NXK8-2]
NP_001303868.1. NM_001316939.1. [Q9NXK8-2]
NP_001303869.1. NM_001316940.1. [Q9NXK8-2]
NP_001303870.1. NM_001316941.1. [Q9NXK8-2]
NP_001303871.1. NM_001316942.1. [Q9NXK8-2]
NP_060173.1. NM_017703.2. [Q9NXK8-1]
UniGeneiHs.12439.

Genome annotation databases

EnsembliENST00000247977; ENSP00000247977; ENSG00000127452. [Q9NXK8-1]
ENST00000585379; ENSP00000467359; ENSG00000127452. [Q9NXK8-2]
ENST00000591009; ENSP00000468369; ENSG00000127452. [Q9NXK8-2]
GeneIDi54850.
KEGGihsa:54850.
UCSCiuc002mme.3. human. [Q9NXK8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
CCDS82287.1. [Q9NXK8-2]
RefSeqiNP_001303865.1. NM_001316936.1.
NP_001303866.1. NM_001316937.1. [Q9NXK8-2]
NP_001303867.1. NM_001316938.1. [Q9NXK8-2]
NP_001303868.1. NM_001316939.1. [Q9NXK8-2]
NP_001303869.1. NM_001316940.1. [Q9NXK8-2]
NP_001303870.1. NM_001316941.1. [Q9NXK8-2]
NP_001303871.1. NM_001316942.1. [Q9NXK8-2]
NP_060173.1. NM_017703.2. [Q9NXK8-1]
UniGeneiHs.12439.

3D structure databases

ProteinModelPortaliQ9NXK8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120200. 35 interactors.
IntActiQ9NXK8. 13 interactors.
MINTiMINT-1409594.
STRINGi9606.ENSP00000247977.

PTM databases

iPTMnetiQ9NXK8.
PhosphoSitePlusiQ9NXK8.

Polymorphism and mutation databases

BioMutaiFBXL12.
DMDMi38257780.

Proteomic databases

EPDiQ9NXK8.
MaxQBiQ9NXK8.
PaxDbiQ9NXK8.
PeptideAtlasiQ9NXK8.
PRIDEiQ9NXK8.

Protocols and materials databases

DNASUi54850.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000247977; ENSP00000247977; ENSG00000127452. [Q9NXK8-1]
ENST00000585379; ENSP00000467359; ENSG00000127452. [Q9NXK8-2]
ENST00000591009; ENSP00000468369; ENSG00000127452. [Q9NXK8-2]
GeneIDi54850.
KEGGihsa:54850.
UCSCiuc002mme.3. human. [Q9NXK8-1]

Organism-specific databases

CTDi54850.
GeneCardsiFBXL12.
H-InvDBHIX0014728.
HIX0174428.
HGNCiHGNC:13611. FBXL12.
HPAiHPA002843.
MIMi609079. gene.
neXtProtiNX_Q9NXK8.
OpenTargetsiENSG00000127452.
PharmGKBiPA134934043.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IT1J. Eukaryota.
ENOG4111Z4R. LUCA.
GeneTreeiENSGT00390000003354.
HOGENOMiHOG000112675.
HOVERGENiHBG051672.
InParanoidiQ9NXK8.
KOiK10278.
OMAiISMAWLL.
OrthoDBiEOG091G0AP2.
PhylomeDBiQ9NXK8.
TreeFamiTF313434.

Enzyme and pathway databases

UniPathwayiUPA00143.
BioCyciZFISH:ENSG00000127452-MONOMER.
ReactomeiR-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.

Miscellaneous databases

GenomeRNAii54850.
PROiQ9NXK8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000127452.
CleanExiHS_FBXL12.
ExpressionAtlasiQ9NXK8. baseline and differential.
GenevisibleiQ9NXK8. HS.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR001810. F-box_dom.
IPR032675. L_dom-like.
[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]
ProtoNetiSearch...

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: November 30, 2016
This is version 130 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.