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    FBXO44 F-box protein 44 [ Homo sapiens ]

    Gene ID: 93611, updated on 11-May-2012
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    Summary

    Official Symbol
    FBXO44provided by HGNC
    Official Full Name
    F-box protein 44provided by HGNC
    Primary source
    HGNC:24847
    Locus tag
    RP3-330O12.2
    See related
    Ensembl:ENSG00000132879; HPRD:16445; MIM:609111; Vega:OTTHUMG00000002071
    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
    FBG3; FBX30; FBX6A; Fbx44; Fbxo6a; MGC14140; DKFZp781J0852
    Summary
    This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It is also a member of the NFB42 (neural F Box 42 kDa) family, similar to F-box only protein 2 and F-box only protein 6. Four alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    1p36.22
    Sequence :
    Chromosome: 1; NC_000001.10 (11714432..11723384)
    See FBXO44 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene ubiquitin-conjugating enzyme E2 variant 2 pseudogene Neighboring gene UbiA prenyltransferase domain containing 1 Neighboring gene patched domain containing 2 Neighboring gene F-box protein 2 Neighboring gene F-box protein 6 Neighboring gene MAD2 mitotic arrest deficient-like 2 (yeast)

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Crystallization and preliminary X-ray characterization of the Skp1-Fbg3 complex. Kumanomidou T, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2010 Jan 1. PMID 20057081.
    2. Defining the human deubiquitinating enzyme interaction landscape. Sowa ME, et al. Cell, 2009 Jul 23. PMID 19615732.
    3. Diversity in tissue expression, substrate binding, and SCF complex formation for a lectin family of ubiquitin ligases. Glenn KA, et al. J Biol Chem, 2008 May 9. PMID 18203720.
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965.
    5. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414.

    See all (11) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Skp1 and Fbg3 were co-expressed in E. coli. The plate-shaped crystals belonged to space group P2(1)2(1)2(1), with unit-cell parameters a = 34.1, b = 76.6, c = 193.9 A and one molecule per asymmetric unit.
      Title: Crystallization and preliminary X-ray characterization of the Skp1-Fbg3 complex.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9H4M3 P63208 SKP1    HPRD  PubMed  
    BioGRID:125038 BioGRID:116176 COPS6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:125038 BioGRID:112391 SKP1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    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...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    SCF ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    F-box only protein 44
    Names
    F-box only protein 44
    F-box gene 3
    F-box protein FBX30
    F-box/G-domain protein 3
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    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.

    mRNA and Protein(s)

    1. NM_001014765.1 → NP_001014765.1  F-box only protein 44 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an additional exon in the 5' UTR, and encodes the same isoform (1), as compared to variant 1.
      Source sequence(s)
      AL031731, AY040878, BM903606, CR749368
      Consensus CDS
      CCDS132.1
      UniProtKB/Swiss-Prot
      Q9H4M3
      Related
      ENSP00000365961, ENST00000376770
      Conserved Domains (2) summary
      pfam04300
      Location:68 – 252
      Blast Score: 664
      FBA; F-box associated region
      cl02535
      Location:18 – 53
      Blast Score: 98
      F-box; F-box domain

    2. NM_033182.5 → NP_149438.2  F-box only protein 44 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL031731, AY040878, BM903606
      Consensus CDS
      CCDS132.1
      UniProtKB/Swiss-Prot
      Q9H4M3
      Related
      ENSP00000251547, OTTHUMP00000002063, ENST00000251547, OTTHUMT00000005761
      Conserved Domains (2) summary
      pfam04300
      Location:68 – 252
      Blast Score: 664
      FBA; F-box associated region
      cl02535
      Location:18 – 53
      Blast Score: 98
      F-box; F-box domain

    3. NM_183412.2 → NP_904319.1  F-box only protein 44 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon and lacks an internal exon, as compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AK055344, AL031731
      Consensus CDS
      CCDS131.1
      UniProtKB/Swiss-Prot
      Q9H4M3
      Related
      ENSP00000251546, OTTHUMP00000002064, ENST00000251546, OTTHUMT00000005762
      Conserved Domains (2) summary
      pfam04300
      Location:68 – 123
      Blast Score: 181
      FBA; F-box associated region
      cl02535
      Location:18 – 53
      Blast Score: 93
      F-box; F-box domain

    4. NM_183413.2 → NP_904320.1  F-box only protein 44 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon, as compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AL031731, BC007832, BM903606
      Consensus CDS
      CCDS131.1
      UniProtKB/Swiss-Prot
      Q9H4M3
      Related
      ENSP00000365953, OTTHUMP00000002065, ENST00000376762, OTTHUMT00000005763
      Conserved Domains (2) summary
      pfam04300
      Location:68 – 123
      Blast Score: 181
      FBA; F-box associated region
      cl02535
      Location:18 – 53
      Blast Score: 93
      F-box; F-box domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      11714432..11723384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      10868528..10877542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL031731.44 CAI20210.1
      CAI20211.1
      CAI20212.1
      CAI20213.1
    genomic CH471130.1 EAW71690.1
      EAW71691.1
      EAW71692.1
      EAW71693.1
      EAW71694.1
      EAW71695.1
    mRNA AK055344.1 BAG51504.1
    mRNA AK293721.1 BAH11578.1
    mRNA AK294053.1 BAH11660.1
    mRNA AK296025.1 BAH12240.1
    mRNA AK301418.1 BAH13479.1
    mRNA AK316284.1 BAH14655.1
    mRNA AK316347.1 BAH14718.1
    mRNA AY007380.1 AAG09623.1
    mRNA AY040878.1 AAK77940.1
    mRNA BC007832.2 AAH07832.1
    mRNA BM903606.1 None
    mRNA CR749368.1 CAH18221.1
    other-genetic HQ448180.1 ADQ32661.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H4M3.3 GenPept UniProtKB/Swiss-Prot:Q9H4M3
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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