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Protein

F-box only protein 31

Gene

FBXO31

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Component of some SCF (SKP1-cullin-F-box) protein ligase complex that plays a central role in G1 arrest following DNA damage. Specifically recognizes phosphorylated cyclin-D1 (CCND1), promoting its ubiquitination and degradation by the proteasome, resulting in G1 arrest. May act as a tumor suppressor.2 Publications

Pathway:iprotein 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

  • cyclin binding Source: UniProtKB

GO - Biological processi

  • cellular response to DNA damage stimulus Source: UniProtKB
  • mitotic G1 DNA damage checkpoint Source: UniProtKB
  • negative regulation of cyclin-dependent protein serine/threonine kinase by cyclin degradation Source: UniProtKB
  • positive regulation of dendrite morphogenesis Source: Ensembl
  • positive regulation of neuron migration Source: Ensembl
  • protein ubiquitination Source: UniProtKB-UniPathway
  • SCF-dependent proteasomal ubiquitin-dependent protein catabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cell cycle, DNA damage, Ubl conjugation pathway

Enzyme and pathway databases

UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
Recommended name:
F-box only protein 31
Gene namesi
Name:FBXO31
Synonyms:FBX14, FBX31
ORF Names:PP2386
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:16510. FBXO31.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: Ensembl
  • neuronal cell body Source: UniProtKB
  • SCF ubiquitin ligase complex Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 45 (MRT45)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT45 manifestations include mild to moderate intellectual disability and dysmorphic features, including coarse facies, broad nasal bridge, fleshy nares, and thick, prominent lips.

See also OMIM:615979

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi278 – 2781S → A: Fails to accumulate following gamma-irradiation. 1 Publication
Mutagenesisi400 – 4001S → A: No effect following gamma-irradiation. 1 Publication

Keywords - Diseasei

Mental retardation

Organism-specific databases

MIMi615979. phenotype.
Orphaneti88616. Autosomal recessive non-syndromic intellectual disability.
PharmGKBiPA28042.

Polymorphism and mutation databases

DMDMi146345419.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 539539F-box only protein 31PRO_0000119921Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei33 – 331PhosphoserineBy similarity
Modified residuei37 – 371PhosphothreonineBy similarity
Modified residuei278 – 2781Phosphoserine; by ATM1 Publication

Post-translational modificationi

Phosphorylation at Ser-278 by ATM following gamma-irradiation results in its stabilization.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ5XUX0.
PaxDbiQ5XUX0.
PRIDEiQ5XUX0.

PTM databases

PhosphoSiteiQ5XUX0.

Expressioni

Tissue specificityi

Highly expressed in brain. Expressed at moderate levels in most tissues, except bone marrow.1 Publication

Developmental stagei

Expression is cell-cycle regulated, and peaks at late G2 to early G1 phase (at protein level).1 Publication

Inductioni

By DNA damage. Increases after UV irradiation, X-ray irradiation, oxidative stress (H2O2) or addition of the chemotherapeutic DNA-damaging agents etoposide, adriamycin, cisplatin or fluorouracil.1 Publication

Gene expression databases

BgeeiQ5XUX0.
CleanExiHS_FBXO31.
ExpressionAtlasiQ5XUX0. baseline and differential.
GenevisibleiQ5XUX0. HS.

Organism-specific databases

HPAiHPA030150.

Interactioni

Subunit structurei

Part of a SCF (SKP1-cullin-F-box) protein ligase complex.2 Publications

Protein-protein interaction databases

BioGridi122890. 8 interactions.
DIPiDIP-60449N.
IntActiQ5XUX0. 1 interaction.
STRINGi9606.ENSP00000310841.

Structurei

3D structure databases

ProteinModelPortaliQ5XUX0.
SMRiQ5XUX0. Positions 66-137.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini64 – 11047F-boxPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi58 – 636Poly-Pro

Sequence similaritiesi

Belongs to the FBXO31 family.Curated
Contains 1 F-box domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG43393.
GeneTreeiENSGT00390000001368.
HOGENOMiHOG000112543.
HOVERGENiHBG071549.
InParanoidiQ5XUX0.
KOiK10308.
OMAiPQAFEEM.
OrthoDBiEOG7CG6ZR.
PhylomeDBiQ5XUX0.
TreeFamiTF331818.

Family and domain databases

InterProiIPR001810. F-box_dom.
IPR026941. FBXO31.
[Graphical view]
PANTHERiPTHR10706:SF126. PTHR10706:SF126. 1 hit.
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: Q5XUX0-1) [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
MAVCARLCGV GPSRGCRRRQ QRRGPAETAA ADSEPDTDPE EERIEASAGV
60 70 80 90 100
GGGLCAGPSP PPPRCSLLEL PPELLVEIFA SLPGTDLPSL AQVCTKFRRI
110 120 130 140 150
LHTDTIWRRR CREEYGVCEN LRKLEITGVS CRDVYAKLLH RYRHILGLWQ
160 170 180 190 200
PDIGPYGGLL NVVVDGLFII GWMYLPPHDP HVDDPMRFKP LFRIHLMERK
210 220 230 240 250
AATVECMYGH KGPHHGHIQI VKKDEFSTKC NQTDHHRMSG GRQEEFRTWL
260 270 280 290 300
REEWGRTLED IFHEHMQELI LMKFIYTSQY DNCLTYRRIY LPPSRPDDLI
310 320 330 340 350
KPGLFKGTYG SHGLEIVMLS FHGRRARGTK ITGDPNIPAG QQTVEIDLRH
360 370 380 390 400
RIQLPDLENQ RNFNELSRIV LEVRERVRQE QQEGGHEAGE GRGRQGPRES
410 420 430 440 450
QPSPAQPRAE APSKGPDGTP GEDGGEPGDA VAAAEQPAQC GQGQPFVLPV
460 470 480 490 500
GVSSRNEDYP RTCRMCFYGT GLIAGHGFTS PERTPGVFIL FDEDRFGFVW
510 520 530
LELKSFSLYS RVQATFRNAD APSPQAFDEM LKNIQSLTS
Length:539
Mass (Da):60,664
Last modified:May 1, 2007 - v2
Checksum:iE833D63A361E7381
GO
Isoform 2 (identifier: Q5XUX0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-113: MAVCARLCGV...DTIWRRRCRE → MFLVT

Note: No experimental confirmation available.
Show »
Length:431
Mass (Da):49,039
Checksum:i69E7352F7253F32C
GO

Sequence cautioni

The sequence AAH12748.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAL55855.1 differs from that shown. Reason: Frameshift at position 496. Curated
The sequence CAB55929.2 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti138 – 1381L → V in AAU50679 (PubMed:15520277).Curated
Sequence conflicti281 – 2811D → E in AAU50679 (PubMed:15520277).Curated
Sequence conflicti466 – 4661C → S in AAU50679 (PubMed:15520277).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 113113MAVCA…RRCRE → MFLVT in isoform 2. 1 PublicationVSP_037469Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY736035 mRNA. Translation: AAU50679.1.
AF428140 mRNA. Translation: AAQ04213.1.
AF318348 mRNA. Translation: AAL55855.1. Frameshift.
AC010531 Genomic DNA. No translation available.
BC012748 mRNA. Translation: AAH12748.1. Different initiation.
AL117444 mRNA. Translation: CAB55929.2. Different initiation.
CCDSiCCDS32501.1. [Q5XUX0-1]
PIRiT17239.
RefSeqiNP_001269612.1. NM_001282683.1.
NP_079011.3. NM_024735.4. [Q5XUX0-1]
UniGeneiHs.567582.
Hs.658034.
Hs.733212.

Genome annotation databases

EnsembliENST00000311635; ENSP00000310841; ENSG00000103264.
GeneIDi79791.
KEGGihsa:79791.
UCSCiuc002fjv.3. human. [Q5XUX0-2]
uc002fjw.3. human. [Q5XUX0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY736035 mRNA. Translation: AAU50679.1.
AF428140 mRNA. Translation: AAQ04213.1.
AF318348 mRNA. Translation: AAL55855.1. Frameshift.
AC010531 Genomic DNA. No translation available.
BC012748 mRNA. Translation: AAH12748.1. Different initiation.
AL117444 mRNA. Translation: CAB55929.2. Different initiation.
CCDSiCCDS32501.1. [Q5XUX0-1]
PIRiT17239.
RefSeqiNP_001269612.1. NM_001282683.1.
NP_079011.3. NM_024735.4. [Q5XUX0-1]
UniGeneiHs.567582.
Hs.658034.
Hs.733212.

3D structure databases

ProteinModelPortaliQ5XUX0.
SMRiQ5XUX0. Positions 66-137.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122890. 8 interactions.
DIPiDIP-60449N.
IntActiQ5XUX0. 1 interaction.
STRINGi9606.ENSP00000310841.

PTM databases

PhosphoSiteiQ5XUX0.

Polymorphism and mutation databases

DMDMi146345419.

Proteomic databases

MaxQBiQ5XUX0.
PaxDbiQ5XUX0.
PRIDEiQ5XUX0.

Protocols and materials databases

DNASUi79791.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311635; ENSP00000310841; ENSG00000103264.
GeneIDi79791.
KEGGihsa:79791.
UCSCiuc002fjv.3. human. [Q5XUX0-2]
uc002fjw.3. human. [Q5XUX0-1]

Organism-specific databases

CTDi79791.
GeneCardsiGC16M087367.
HGNCiHGNC:16510. FBXO31.
HPAiHPA030150.
MIMi609102. gene.
615979. phenotype.
neXtProtiNX_Q5XUX0.
Orphaneti88616. Autosomal recessive non-syndromic intellectual disability.
PharmGKBiPA28042.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG43393.
GeneTreeiENSGT00390000001368.
HOGENOMiHOG000112543.
HOVERGENiHBG071549.
InParanoidiQ5XUX0.
KOiK10308.
OMAiPQAFEEM.
OrthoDBiEOG7CG6ZR.
PhylomeDBiQ5XUX0.
TreeFamiTF331818.

Enzyme and pathway databases

UniPathwayiUPA00143.

Miscellaneous databases

ChiTaRSiFBXO31. human.
GeneWikiiFBXO31.
GenomeRNAii79791.
NextBioi69320.
PROiQ5XUX0.
SOURCEiSearch...

Gene expression databases

BgeeiQ5XUX0.
CleanExiHS_FBXO31.
ExpressionAtlasiQ5XUX0. baseline and differential.
GenevisibleiQ5XUX0. HS.

Family and domain databases

InterProiIPR001810. F-box_dom.
IPR026941. FBXO31.
[Graphical view]
PANTHERiPTHR10706:SF126. PTHR10706:SF126. 1 hit.
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...

Publicationsi

« Hide 'large scale' publications
  1. "Systematic analysis and nomenclature of mammalian F-box proteins."
    Jin J., Cardozo T., Lovering R.C., Elledge S.J., Pagano M., Harper J.W.
    Genes Dev. 18:2573-2580(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "A novel F-box protein is differentially expressed in hematopoietic malignancies."
    Banham A.H., Cordell J.L., Jones M., Liggins A.P., Pulford K., Mason D.Y.
    Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Choriocarcinoma.
  3. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
    Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
    , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
    Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  4. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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: Placenta.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 149-539 (ISOFORM 1).
    Tissue: Testis.
  7. "FBXO31 is the chromosome 16q24.3 senescence gene, a candidate breast tumor suppressor, and a component of an SCF complex."
    Kumar R., Neilsen P.M., Crawford J., McKirdy R., Lee J., Powell J.A., Saif Z., Martin J.M., Lombaerts M., Cornelisse C.J., Cleton-Jansen A.-M., Callen D.F.
    Cancer Res. 65:11304-11313(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, SUBUNIT, FUNCTION, DEVELOPMENTAL STAGE.
  8. "F-box protein FBXO31 mediates cyclin D1 degradation to induce G1 arrest after DNA damage."
    Santra M.K., Wajapeyee N., Green M.R.
    Nature 459:722-725(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, IDENTIFICATION IN A SCF PROTEIN LIGASE COMPLEX, INDUCTION, INTERACTION WITH CCND1, PHOSPHORYLATION AT SER-278, MUTAGENESIS OF SER-278 AND SER-400.
  9. "Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family."
    Mir A., Sritharan K., Mittal K., Vasli N., Araujo C., Jamil T., Rafiq M.A., Anwar Z., Mikhailov A., Rauf S., Mahmood H., Shakoor A., Ali S., So J., Naeem F., Ayub M., Vincent J.B.
    Hum. Genet. 133:975-984(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN MRT45.

Entry informationi

Entry nameiFBX31_HUMAN
AccessioniPrimary (citable) accession number: Q5XUX0
Secondary accession number(s): Q5K680
, Q8WYV1, Q96D73, Q9UFV4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 15, 2005
Last sequence update: May 1, 2007
Last modified: July 22, 2015
This is version 102 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.