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FBXO31 F-box protein 31 [ Homo sapiens (human) ]

Gene ID: 79791, updated on 7-Oct-2018

Summary

Official Symbol
FBXO31provided by HGNC
Official Full Name
F-box protein 31provided by HGNC
Primary source
HGNC:HGNC:16510
See related
Ensembl:ENSG00000103264 MIM:609102; Vega:OTTHUMG00000175685
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FBX14; Fbx31; MRT45; FBXO14; pp2386
Summary
This gene is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Expression
Ubiquitous expression in fat (RPKM 13.6), ovary (RPKM 7.7) and 25 other tissues See more
Orthologs

Genomic context

See FBXO31 in Genome Data Viewer
Location:
16q24.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (87326987..87392107, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (87362942..87425708, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene chromosome 16 open reading frame 95 Neighboring gene uncharacterized LOC101928659 Neighboring gene transfer RNA-Met (CAT) 6-1 Neighboring gene microtubule associated protein 1 light chain 3 beta Neighboring gene zinc finger CCHC-type containing 14 Neighboring gene nuclear receptor subfamily 3 group C member 1 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, autosomal recessive 45
MedGen: C4014864 OMIM: 615979 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
A mega-analysis of genome-wide association studies for major depressive disorder.
NHGRI GWA Catalog
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
NHGRI GWA Catalog

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC9527, FLJ22477, MGC15419, DKFZp434B027, DKFZp434J1815

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cyclin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein transferase activity EXP
Inferred from Experiment
more info
PubMed 
ubiquitin-protein transferase activity TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
SCF ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SCF ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
F-box only protein 31
Names
SCF ubiquitin ligase specificity factor
putative breast cancer tumor-suppressor

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_047196.1 RefSeqGene

    Range
    13315..70121
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282683.1NP_001269612.1  F-box only protein 31 isoform 2

    See identical proteins and their annotated locations for NP_001269612.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AL117444, AL576585, BC012748, BE465371, BG718342, BI914636, BM151642, BX106211, BX329100, DA493744, DB444853
    Consensus CDS
    CCDS73922.1
    UniProtKB/Swiss-Prot
    Q5XUX0
    UniProtKB/TrEMBL
    A0A0C4DGU8
    Related
    ENSP00000479703.1, ENST00000618298.6
    Conserved Domains (2) summary
    pfam12014
    Location:113171
    DUF3506; Domain of unknown function (DUF3506)
    cl26386
    Location:203273
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  2. NM_024735.4NP_079011.3  F-box only protein 31 isoform 1

    See identical proteins and their annotated locations for NP_079011.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC010531, AF318348, AL576585, BC012748, BE465371, BI596608, BI914636, BM151642, BX106211, BX329100, DA493744
    Consensus CDS
    CCDS32501.1
    UniProtKB/Swiss-Prot
    Q5XUX0
    Related
    ENSP00000310841.4, OTTHUMP00000254020, ENST00000311635.11, OTTHUMT00000430799
    Conserved Domains (2) summary
    pfam12014
    Location:285343
    DUF3506; Domain of unknown function (DUF3506)
    pfam12937
    Location:75113
    F-box-like; F-box-like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    87326987..87392107 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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