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FBXL4 F-box and leucine rich repeat protein 4 [ Homo sapiens (human) ]

Gene ID: 26235, updated on 17-Jun-2019

Summary

Official Symbol
FBXL4provided by HGNC
Official Full Name
F-box and leucine rich repeat protein 4provided by HGNC
Primary source
HGNC:HGNC:13601
See related
Ensembl:ENSG00000112234 MIM:605654
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
FBL4; FBL5; MTDPS13
Summary
This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Expression
Ubiquitous expression in thyroid (RPKM 4.4), kidney (RPKM 3.2) and 25 other tissues See more
Orthologs

Genomic context

See FBXL4 in Genome Data Viewer
Location:
6q16.1-q16.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (98868535..98948006, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (99321601..99395882, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene POU class 3 homeobox 2 Neighboring gene long intergenic non-protein coding RNA PNKY Neighboring gene microRNA 548ai Neighboring gene 3-hydroxybutyrate dehydrogenase 2, 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
SCF ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
 
ubiquitin ligase complex TAS
Traceable Author Statement
more info
PubMed 

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_033903.1 RefSeqGene

    Range
    5001..79282
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278716.2NP_001265645.1  F-box/LRR-repeat protein 4

    See identical proteins and their annotated locations for NP_001265645.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL022395, BC091484, DA391493, DA782779
    Consensus CDS
    CCDS5041.1
    UniProtKB/Swiss-Prot
    Q9UKA2
    Related
    ENSP00000358247.1, ENST00000369244.7
    Conserved Domains (3) summary
    sd00034
    Location:403427
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:280318
    F-box-like; F-box-like
    cl28166
    Location:394601
    AMN1; Antagonist of mitotic exit network protein 1
  2. NM_012160.4NP_036292.2  F-box/LRR-repeat protein 4

    See identical proteins and their annotated locations for NP_036292.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL022395, BC055010, DA391493, DA782779
    Consensus CDS
    CCDS5041.1
    UniProtKB/Swiss-Prot
    Q9UKA2
    Related
    ENSP00000229971.1, ENST00000229971.2
    Conserved Domains (3) summary
    sd00034
    Location:403427
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:280318
    F-box-like; F-box-like
    cl28166
    Location:394601
    AMN1; Antagonist of mitotic exit network protein 1

RNA

  1. NR_103836.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL022395, BC039819, DA391493, DA782779
  2. NR_103837.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks several exons, and uses an alternate 3'-terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL022395, BC039819, DA391493, DA782779

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    98868535..98948006 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010728.1XP_016866217.1  F-box/LRR-repeat protein 4 isoform X4

  2. XM_005266930.3XP_005266987.1  F-box/LRR-repeat protein 4 isoform X2

    Conserved Domains (3) summary
    cd09293
    Location:394577
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:377402
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:280326
    F-box-like; F-box-like
  3. XM_017010727.2XP_016866216.1  F-box/LRR-repeat protein 4 isoform X2

    Conserved Domains (3) summary
    cd09293
    Location:394577
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:377402
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:280326
    F-box-like; F-box-like
  4. XM_017010726.1XP_016866215.1  F-box/LRR-repeat protein 4 isoform X1

    UniProtKB/Swiss-Prot
    Q9UKA2
    Conserved Domains (3) summary
    sd00034
    Location:403427
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:280318
    F-box-like; F-box-like
    cl28166
    Location:394601
    AMN1; Antagonist of mitotic exit network protein 1
  5. XM_011535748.3XP_011534050.1  F-box/LRR-repeat protein 4 isoform X3

    Conserved Domains (2) summary
    sd00034
    Location:295317
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12937
    Location:280326
    F-box-like; F-box-like
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