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Protein

F-box only protein 40

Gene

FBXO40

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri53 – 11260TRAF-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

  • muscle cell differentiation Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Ubl conjugation pathway

Keywords - Ligandi

Metal-binding, Zinc

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

HGNCiHGNC:29816. FBXO40.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134971542.

Polymorphism and mutation databases

BioMutaiFBXO40.
DMDMi124012094.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 709709F-box only protein 40PRO_0000119938Add
BLAST

Proteomic databases

PaxDbiQ9UH90.
PeptideAtlasiQ9UH90.
PRIDEiQ9UH90.

PTM databases

iPTMnetiQ9UH90.
PhosphoSiteiQ9UH90.

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. 6 interactions.
IntActiQ9UH90. 1 interaction.
STRINGi9606.ENSP00000337510.

Structurei

3D structure databases

ProteinModelPortaliQ9UH90.
SMRiQ9UH90. Positions 11-92.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini570 – 62455F-boxPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 F-box domain.PROSITE-ProRule annotation
Contains 1 TRAF-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri53 – 11260TRAF-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Zinc-finger

Phylogenomic databases

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

Family and domain databases

Gene3Di3.90.890.10. 1 hit.
InterProiIPR001810. F-box_dom.
IPR031890. Fbxo30/Fbxo40.
IPR013323. SIAH-type.
IPR008974. TRAF-like.
IPR001293. Znf_TRAF.
[Graphical view]
PANTHERiPTHR15933. PTHR15933. 1 hit.
PfamiPF15966. F-box_4. 1 hit.
PF15965. zf-TRAF_2. 1 hit.
[Graphical view]
SUPFAMiSSF49599. SSF49599. 1 hit.
SSF81383. SSF81383. 1 hit.
PROSITEiPS50181. FBOX. 1 hit.
PS50145. ZF_TRAF. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti45 – 451T → A in AAF17085 (Ref. 1) Curated
Sequence conflicti146 – 1461L → P in AAF17085 (Ref. 1) Curated
Sequence conflicti388 – 3881E → G in AAF17085 (Ref. 1) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti87 – 871V → A.
Corresponds to variant rs4676684 [ dbSNP | Ensembl ].
VAR_030005

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9UH90.
SMRiQ9UH90. Positions 11-92.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119698. 6 interactions.
IntActiQ9UH90. 1 interaction.
STRINGi9606.ENSP00000337510.

PTM databases

iPTMnetiQ9UH90.
PhosphoSiteiQ9UH90.

Polymorphism and mutation databases

BioMutaiFBXO40.
DMDMi124012094.

Proteomic databases

PaxDbiQ9UH90.
PeptideAtlasiQ9UH90.
PRIDEiQ9UH90.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi51725.
GeneCardsiFBXO40.
HGNCiHGNC:29816. FBXO40.
MIMi609107. gene.
neXtProtiNX_Q9UH90.
PharmGKBiPA134971542.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GenomeRNAii51725.
PROiQ9UH90.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163833.
CleanExiHS_FBXO40.
GenevisibleiQ9UH90. HS.

Family and domain databases

Gene3Di3.90.890.10. 1 hit.
InterProiIPR001810. F-box_dom.
IPR031890. Fbxo30/Fbxo40.
IPR013323. SIAH-type.
IPR008974. TRAF-like.
IPR001293. Znf_TRAF.
[Graphical view]
PANTHERiPTHR15933. PTHR15933. 1 hit.
PfamiPF15966. F-box_4. 1 hit.
PF15965. zf-TRAF_2. 1 hit.
[Graphical view]
SUPFAMiSSF49599. SSF49599. 1 hit.
SSF81383. SSF81383. 1 hit.
PROSITEiPS50181. FBOX. 1 hit.
PS50145. ZF_TRAF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFBX40_HUMAN
AccessioniPrimary (citable) accession number: Q9UH90
Secondary accession number(s): B2RAX7, Q32M70, Q9ULM5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 31, 2004
Last sequence update: January 23, 2007
Last modified: September 7, 2016
This is version 120 of the entry and version 2 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

Miscellaneous

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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. 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.