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Protein

F-box only protein 40

Gene

FBXO40

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Probable substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex that may function in myogenesis.By similarity

Miscellaneous

The expression decreases in the dystrophic muscle of Limb-girdle muscular dystrophy (LGMD) patient.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri53 – 112TRAF-typePROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

  • muscle cell differentiation Source: UniProtKB
  • post-translational protein modification Source: Reactome
  • protein polyubiquitination Source: Reactome

Keywordsi

Biological processUbl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
F-box only protein 40
Alternative name(s):
Muscle disease-related protein
Gene namesi
Name:FBXO40
Synonyms:FBX40, KIAA1195
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000163833.7
HGNCiHGNC:29816 FBXO40
MIMi609107 gene
neXtProtiNX_Q9UH90

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

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi51725
OpenTargetsiENSG00000163833
PharmGKBiPA134971542

Polymorphism and mutation databases

BioMutaiFBXO40
DMDMi124012094

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001199381 – 709F-box only protein 40Add BLAST709

Proteomic databases

PaxDbiQ9UH90
PeptideAtlasiQ9UH90
PRIDEiQ9UH90

PTM databases

iPTMnetiQ9UH90
PhosphoSitePlusiQ9UH90

Expressioni

Tissue specificityi

Expressed only in heart and skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000163833
CleanExiHS_FBXO40
GenevisibleiQ9UH90 HS

Interactioni

Subunit structurei

Directly interacts with SKP1 and CUL1.By similarity

Protein-protein interaction databases

BioGridi119698, 7 interactors
IntActiQ9UH90, 1 interactor
STRINGi9606.ENSP00000337510

Structurei

3D structure databases

ProteinModelPortaliQ9UH90
SMRiQ9UH90
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini570 – 624F-boxPROSITE-ProRule annotationAdd BLAST55

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri53 – 112TRAF-typePROSITE-ProRule annotationAdd BLAST60

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiENOG410IEIY Eukaryota
ENOG410ZQ6P LUCA
GeneTreeiENSGT00410000025582
HOGENOMiHOG000059618
HOVERGENiHBG100177
InParanoidiQ9UH90
KOiK10315
OMAiMLIHFGQ
OrthoDBiEOG091G06SE
PhylomeDBiQ9UH90
TreeFamiTF343227

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR036047 F-box-like_dom_sf
IPR001810 F-box_dom
IPR031890 Fbxo30/Fbxo40
IPR008974 TRAF-like
IPR013083 Znf_RING/FYVE/PHD
IPR001293 Znf_TRAF
PANTHERiPTHR15933 PTHR15933, 1 hit
PfamiView protein in Pfam
PF15966 F-box_4, 1 hit
PF15965 zf-TRAF_2, 1 hit
SUPFAMiSSF49599 SSF49599, 1 hit
SSF81383 SSF81383, 1 hit
PROSITEiView protein in PROSITE
PS50181 FBOX, 1 hit
PS50145 ZF_TRAF, 1 hit

Sequencei

Sequence statusi: Complete.

Q9UH90-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGKARRSPPG HHRHCEGCFN RHCHIPVEPN TSCLVISCHL LCGATFHMCK
60 70 80 90 100
EAEHQLLCPL EQVPCLNSEY GCPLSMSRHK LAKHLQVCPA SVVCCSMEWN
110 120 130 140 150
RWPNVDSETT LHENIMKETP SEECLDTALA LQDQKVLFRS LKMVELFPET
160 170 180 190 200
REATEEEPTM NGETSVEEMG GAVGGVDIGL VPHGLSATNG EMAELSQEER
210 220 230 240 250
EVLAKTKEGM DLVKFGQWEN IFSKEHAASA LTNSSASCES KNKNDSEKEQ
260 270 280 290 300
ISSGHNMVEG EGAPKKKEPQ ENQKQQDVRT AMETTGLAPW QDGVLERLKT
310 320 330 340 350
AVDAKDYNMY LVHNGRMLIH FGQMPACTPK ERDFVYGKLE AQEVKTVYTF
360 370 380 390 400
KVPVSYCGKR ARLGDAMLSC KPSEHKAVDT SDLGITVEDL PKSDLIKTTL
410 420 430 440 450
QCALERELKG HVISESRSID GLFMDFATQT YNFEPEQFSS GTVLADLTAA
460 470 480 490 500
TPGGLHVELH SECVTRRHNK SSSAFTFTCN KFFRRDEFPL HFKNVHTDIQ
510 520 530 540 550
SCLNGWFQHR CPLAYLGCTF VQNHFRPPGQ KAKVIYSQEL KTFAIKPEVA
560 570 580 590 600
PELSEGRKNN HLLGHGGKSQ NSLTSLPLEI LKYIAGFLDS VSLAQLSQVS
610 620 630 640 650
VLMRNICATL LQERGMVLLQ WKKKRYSHGG TSWRVHREIW QFSSLFSKIK
660 670 680 690 700
SWEFNEVTSM SEHLKSCPFN IVEHKTDPIL LTSMCQPREQ ARESLVSTFR

IRPRGRYVS
Length:709
Mass (Da):79,782
Last modified:January 23, 2007 - v2
Checksum:i4B69F51EA78D78E3
GO

Sequence cautioni

The sequence BAA86509 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti45T → A in AAF17085 (Ref. 1) Curated1
Sequence conflicti146L → P in AAF17085 (Ref. 1) Curated1
Sequence conflicti388E → G in AAF17085 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03000587V → A. Corresponds to variant dbSNP:rs4676684Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF204674 mRNA Translation: AAF17085.1
AB033021 mRNA Translation: BAA86509.1 Different initiation.
AK314400 mRNA Translation: BAG37024.1
AC063920 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79508.1
BC109275 mRNA Translation: AAI09276.1
BC109276 mRNA Translation: AAI09277.1
CCDSiCCDS33835.1
RefSeqiNP_057382.2, NM_016298.3
UniGeneiHs.272564

Genome annotation databases

EnsembliENST00000338040; ENSP00000337510; ENSG00000163833
GeneIDi51725
KEGGihsa:51725
UCSCiuc003eeg.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFBX40_HUMAN
AccessioniPrimary (citable) accession number: Q9UH90
Secondary accession number(s): B2RAX7, Q32M70, Q9ULM5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 31, 2004
Last sequence update: January 23, 2007
Last modified: February 28, 2018
This is version 132 of the entry and version 2 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