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FBXO44 F-box protein 44 [ Homo sapiens (human) ]

Gene ID: 93611, updated on 26-May-2016
Official Symbol
FBXO44provided by HGNC
Official Full Name
F-box protein 44provided by HGNC
Primary source
HGNC:HGNC:24847
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
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. Several alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
Orthologs
Location:
1p36.22
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (11654375..11663327)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11714432..11723384)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376741 Neighboring gene dispatched RND transporter family member 3 Neighboring gene uncharacterized LOC101929181 Neighboring gene F-box protein 2 Neighboring gene F-box protein 6 Neighboring gene MAD2 mitotic arrest deficient-like 2 (yeast) Neighboring gene dorsal inhibitory axon guidance protein

Related articles in PubMed

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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC14140, DKFZp781J0852

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
SCF ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
F-box only protein 44
Names
F-box gene 3
F-box protein FBX30
F-box/G-domain protein 3

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_001014765.1NP_001014765.1  F-box only protein 44 isoform 1

    See identical proteins and their annotated locations for NP_001014765.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 4, and 6 all encode the same isoform (1).
    Source sequence(s)
    AL031731, AY040878, BM903606, CR749368
    Consensus CDS
    CCDS132.1
    UniProtKB/Swiss-Prot
    Q9H4M3
    UniProtKB/TrEMBL
    A0A024R4F9
    Related
    ENSP00000365961, ENST00000376770
    Conserved Domains (2) summary
    pfam04300
    Location:68252
    FBA; F-box associated region
    pfam12937
    Location:653
    F-box-like; F-box-like
  2. NM_001304790.1NP_001291719.1  F-box only protein 44 isoform 2

    See identical proteins and their annotated locations for NP_001291719.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice junction at the 3' end of an internal exon and lacks an alternate internal exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Variants 2, 3, and 5 all encode the same isoform (2).
    Source sequence(s)
    AK055344, AL031731, BU164151, HY152948
    Consensus CDS
    CCDS131.1
    UniProtKB/Swiss-Prot
    Q9H4M3
    UniProtKB/TrEMBL
    A0A024R4J6
    Related
    ENSP00000365951, OTTHUMP00000035896, ENST00000376760, OTTHUMT00000092168
    Conserved Domains (2) summary
    pfam04300
    Location:68123
    FBA; F-box associated region
    pfam12937
    Location:653
    F-box-like; F-box-like
  3. NM_001304791.1NP_001291720.1  F-box only protein 44 isoform 1

    See identical proteins and their annotated locations for NP_001291720.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to isoform 1. Variants 1, 4, and 6 all encode the same isoform (1).
    Source sequence(s)
    AK055344, AL031731, BM546141
    Consensus CDS
    CCDS132.1
    UniProtKB/Swiss-Prot
    Q9H4M3
    UniProtKB/TrEMBL
    A0A024R4F9
    Conserved Domains (2) summary
    pfam04300
    Location:68252
    FBA; F-box associated region
    pfam12937
    Location:653
    F-box-like; F-box-like
  4. NM_033182.5NP_149438.2  F-box only protein 44 isoform 1

    See identical proteins and their annotated locations for NP_149438.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1, 4, and 6 all encode the same isoform (1).
    Source sequence(s)
    AL031731, AY040878, BM903606
    Consensus CDS
    CCDS132.1
    UniProtKB/Swiss-Prot
    Q9H4M3
    UniProtKB/TrEMBL
    A0A024R4F9
    Related
    ENSP00000251547, OTTHUMP00000002063, ENST00000251547, OTTHUMT00000005761
    Conserved Domains (2) summary
    pfam04300
    Location:68252
    FBA; F-box associated region
    pfam12937
    Location:653
    F-box-like; F-box-like
  5. NM_183412.2NP_904319.1  F-box only protein 44 isoform 2

    See identical proteins and their annotated locations for NP_904319.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, uses an alternate splice junction at the 3' end of an internal exon, and lacks an alternate internal exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Variants 2, 3, and 5 all encode the same isoform (2).
    Source sequence(s)
    AK055344, AL031731
    Consensus CDS
    CCDS131.1
    UniProtKB/Swiss-Prot
    Q9H4M3
    UniProtKB/TrEMBL
    A0A024R4J6
    Related
    ENSP00000251546, OTTHUMP00000002064, ENST00000251546, OTTHUMT00000005762
    Conserved Domains (2) summary
    pfam04300
    Location:68123
    FBA; F-box associated region
    pfam12937
    Location:653
    F-box-like; F-box-like
  6. NM_183413.2NP_904320.1  F-box only protein 44 isoform 2

    See identical proteins and their annotated locations for NP_904320.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction at the 3' end of an internal exon and lacks an alternate internal exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Variants 2, 3, and 5 all encode the same isoform (2).
    Source sequence(s)
    AL031731, BC007832, BM903606
    Consensus CDS
    CCDS131.1
    UniProtKB/Swiss-Prot
    Q9H4M3
    UniProtKB/TrEMBL
    A0A024R4J6
    Related
    ENSP00000365953, OTTHUMP00000002065, ENST00000376762, OTTHUMT00000005763
    Conserved Domains (2) summary
    pfam04300
    Location:68123
    FBA; F-box associated region
    pfam12937
    Location:653
    F-box-like; F-box-like

RNA

  1. NR_130909.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate splice junction at the 5' end of a 5' exon and at the 3' end of an internal exon, and lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AK055344, AK296025, AL031731, HY152948

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    11654375..11663327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263537.1XP_005263594.1  

    See identical proteins and their annotated locations for XP_005263594.1

    UniProtKB/TrEMBL
    B7Z1P2
    Conserved Domains (2) summary
    pfam04300
    Location:68120
    FBA; F-box associated region
    pfam12937
    Location:653
    F-box-like; F-box-like
  2. XM_011542435.1XP_011540737.1  

    See identical proteins and their annotated locations for XP_011540737.1

    UniProtKB/TrEMBL
    B7Z1P2
    Conserved Domains (2) summary
    pfam04300
    Location:68120
    FBA; F-box associated region
    pfam12937
    Location:653
    F-box-like; F-box-like
  3. XM_005263536.3XP_005263593.1  

    See identical proteins and their annotated locations for XP_005263593.1

    UniProtKB/TrEMBL
    B7Z1P2
    Conserved Domains (2) summary
    pfam04300
    Location:68120
    FBA; F-box associated region
    pfam12937
    Location:653
    F-box-like; F-box-like
  4. XM_006711045.2XP_006711108.1  

    See identical proteins and their annotated locations for XP_006711108.1

    UniProtKB/Swiss-Prot
    Q9H4M3
    UniProtKB/TrEMBL
    A0A024R4F9
    Conserved Domains (2) summary
    pfam04300
    Location:68252
    FBA; F-box associated region
    pfam12937
    Location:653
    F-box-like; F-box-like
  5. XM_006711043.2XP_006711106.1  

    See identical proteins and their annotated locations for XP_006711106.1

    UniProtKB/TrEMBL
    B7Z1P2
    Conserved Domains (2) summary
    pfam04300
    Location:68120
    FBA; F-box associated region
    pfam12937
    Location:653
    F-box-like; F-box-like
  6. XM_005263535.1XP_005263592.1  

    See identical proteins and their annotated locations for XP_005263592.1

    UniProtKB/TrEMBL
    B7Z1P2
    Related
    ENSP00000365959, OTTHUMP00000035894, ENST00000376768, OTTHUMT00000092163
    Conserved Domains (2) summary
    pfam04300
    Location:68120
    FBA; F-box associated region
    pfam12937
    Location:653
    F-box-like; F-box-like
  7. XM_011542436.1XP_011540738.1  

    See identical proteins and their annotated locations for XP_011540738.1

    UniProtKB/TrEMBL
    B7Z1P2
    Conserved Domains (2) summary
    pfam04300
    Location:68120
    FBA; F-box associated region
    pfam12937
    Location:653
    F-box-like; F-box-like

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    11702419..11711370
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)