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Protein

F-box/LRR-repeat protein 12

Gene

FBXL12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 - Molecular functioni

GO - Biological processi

Keywordsi

Biological processUbl conjugation pathway

Enzyme and pathway databases

ReactomeiR-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
UniPathwayi
UPA00143

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

EuPathDBiHostDB:ENSG00000127452.8
HGNCiHGNC:13611 FBXL12
MIMi609079 gene
neXtProtiNX_Q9NXK8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi83107
83108 [Q9NXK8-2]

PTM databases

iPTMnetiQ9NXK8
PhosphoSitePlusiQ9NXK8

Expressioni

Gene expression databases

BgeeiENSG00000127452 Expressed in 218 organ(s), highest expression level in thymus
CleanExiHS_FBXL12
ExpressionAtlasiQ9NXK8 baseline and differential
GenevisibleiQ9NXK8 HS

Organism-specific databases

HPAiHPA002843

Interactioni

Subunit structurei

Interacts with SKP1 and CUL1.By similarity

Binary interactionsi

Protein-protein interaction databases

BioGridi120200, 37 interactors
IntActiQ9NXK8, 13 interactors
MINTiQ9NXK8
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

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

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

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR036047 F-box-like_dom_sf
IPR001810 F-box_dom
IPR032675 LRR_dom_sf
PfamiView protein in Pfam
PF12937 F-box-like, 1 hit
SMARTiView protein in SMART
SM00256 FBOX, 1 hit
SUPFAMiSSF81383 SSF81383, 1 hit
PROSITEiView protein in PROSITE
PS50181 FBOX, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EK37K7EK37_HUMAN
F-box/LRR-repeat protein 12
FBXL12
134Annotation score:
K7EQJ7K7EQJ7_HUMAN
F-box/LRR-repeat protein 12
FBXL12
69Annotation score:
K7EIR3K7EIR3_HUMAN
F-box/LRR-repeat protein 12
FBXL12
55Annotation score:
K7ELM5K7ELM5_HUMAN
F-box/LRR-repeat protein 12
FBXL12
53Annotation score:
K7EPT3K7EPT3_HUMAN
F-box/LRR-repeat protein 12
FBXL12
85Annotation score:
K7EPN7K7EPN7_HUMAN
F-box/LRR-repeat protein 12
FBXL12
88Annotation score:
K7EIK3K7EIK3_HUMAN
F-box/LRR-repeat protein 12
FBXL12
55Annotation score:
K7ESL6K7ESL6_HUMAN
F-box/LRR-repeat protein 12
FBXL12
41Annotation score:
K7EQY7K7EQY7_HUMAN
F-box/LRR-repeat protein 12
FBXL12
47Annotation score:

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

Similar proteinsi

Entry informationi

Entry nameiFXL12_HUMAN
AccessioniPrimary (citable) accession number: Q9NXK8
Secondary accession number(s): B3KSJ8, Q9H5K4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: October 1, 2000
Last modified: September 12, 2018
This is version 144 of the entry and version 1 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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