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

Gene ID: 93611, updated on 23-Nov-2021

Summary

Official Symbol
FBXO44provided by HGNC
Official Full Name
F-box protein 44provided by HGNC
Primary source
HGNC:HGNC:24847
See related
Ensembl:ENSG00000132879 MIM:609111
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]
Expression
Ubiquitous expression in brain (RPKM 16.4), adrenal (RPKM 7.6) and 25 other tissues See more
Orthologs
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Genomic context

See FBXO44 in Genome Data Viewer
Location:
1p36.22
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (11654375..11663327)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11714464..11723384)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3841 Neighboring gene long intergenic non-protein coding RNA 1647 Neighboring gene F-box protein 2 Neighboring gene F-box protein 6 Neighboring gene mitotic arrest deficient 2 like 2 Neighboring gene dorsal inhibitory axon guidance protein

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 Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC14140, DKFZp781J0852

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of SCF ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of SCF ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001014765.2NP_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
    Consensus CDS
    CCDS132.1
    UniProtKB/Swiss-Prot
    Q9H4M3
    UniProtKB/TrEMBL
    A0A024R4F9
    Related
    ENSP00000365961.1, ENST00000376770.5
    Conserved Domains (2) summary
    pfam04300
    Location:72250
    FBA; F-box associated region
    pfam12937
    Location:651
    F-box-like
  2. NM_001304790.2NP_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)
    AL031731
    Consensus CDS
    CCDS131.1
    UniProtKB/Swiss-Prot
    Q9H4M3
    UniProtKB/TrEMBL
    A0A024R4J6
    Related
    ENSP00000365951.1, ENST00000376760.5
    Conserved Domains (2) summary
    pfam04300
    Location:72124
    FBA; F-box associated region
    pfam12937
    Location:651
    F-box-like
  3. NM_001304791.2NP_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:72250
    FBA; F-box associated region
    pfam12937
    Location:651
    F-box-like
  4. NM_001330355.2NP_001317284.1  F-box only protein 44 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL031731
    Consensus CDS
    CCDS81261.1
    UniProtKB/TrEMBL
    B7Z1P2
    Related
    ENSP00000365959.1, ENST00000376768.5
  5. NM_033182.7NP_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
    Consensus CDS
    CCDS132.1
    UniProtKB/Swiss-Prot
    Q9H4M3
    UniProtKB/TrEMBL
    A0A024R4F9
    Related
    ENSP00000251547.5, ENST00000251547.10
    Conserved Domains (2) summary
    pfam04300
    Location:72250
    FBA; F-box associated region
    pfam12937
    Location:651
    F-box-like
  6. NM_183412.3NP_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
    ENSP00000251546.4, ENST00000251546.8
    Conserved Domains (2) summary
    pfam04300
    Location:72124
    FBA; F-box associated region
    pfam12937
    Location:651
    F-box-like
  7. NM_183413.3NP_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
    Consensus CDS
    CCDS131.1
    UniProtKB/Swiss-Prot
    Q9H4M3
    UniProtKB/TrEMBL
    A0A024R4J6
    Related
    ENSP00000365953.4, ENST00000376762.8
    Conserved Domains (2) summary
    pfam04300
    Location:72124
    FBA; F-box associated region
    pfam12937
    Location:651
    F-box-like

RNA

  1. NR_130909.2 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)
    AL031731

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005263537.1XP_005263594.1  F-box only protein 44 isoform X1

    See identical proteins and their annotated locations for XP_005263594.1

    UniProtKB/TrEMBL
    B7Z1P2
    Conserved Domains (2) summary
    pfam04300
    Location:72120
    FBA; F-box associated region
    pfam12937
    Location:653
    F-box-like; F-box-like
  2. XM_011542435.1XP_011540737.1  F-box only protein 44 isoform X1

    See identical proteins and their annotated locations for XP_011540737.1

    UniProtKB/TrEMBL
    B7Z1P2
    Conserved Domains (2) summary
    pfam04300
    Location:72120
    FBA; F-box associated region
    pfam12937
    Location:653
    F-box-like; F-box-like
  3. XM_024450967.1XP_024306735.1  F-box only protein 44 isoform X3

    Conserved Domains (2) summary
    pfam04300
    Location:72124
    FBA; F-box associated region
    pfam12937
    Location:651
    F-box-like
  4. XM_024450974.1XP_024306742.1  F-box only protein 44 isoform X4

    Conserved Domains (2) summary
    pfam04300
    Location:102154
    FBA; F-box associated region
    pfam12937
    Location:3681
    F-box-like
  5. XM_005263536.4XP_005263593.1  F-box only protein 44 isoform X1

    See identical proteins and their annotated locations for XP_005263593.1

    UniProtKB/TrEMBL
    B7Z1P2
    Conserved Domains (2) summary
    pfam04300
    Location:72120
    FBA; F-box associated region
    pfam12937
    Location:653
    F-box-like; F-box-like
  6. XM_017002844.2XP_016858333.1  F-box only protein 44 isoform X3

    UniProtKB/Swiss-Prot
    Q9H4M3
    UniProtKB/TrEMBL
    A0A024R4J6
    Conserved Domains (2) summary
    pfam04300
    Location:72124
    FBA; F-box associated region
    pfam12937
    Location:651
    F-box-like
  7. XM_006711045.3XP_006711108.1  F-box only protein 44 isoform X2

    See identical proteins and their annotated locations for XP_006711108.1

    UniProtKB/Swiss-Prot
    Q9H4M3
    UniProtKB/TrEMBL
    A0A024R4F9
    Conserved Domains (2) summary
    pfam04300
    Location:72250
    FBA; F-box associated region
    pfam12937
    Location:651
    F-box-like
  8. XM_017002843.2XP_016858332.1  F-box only protein 44 isoform X2

    UniProtKB/Swiss-Prot
    Q9H4M3
    UniProtKB/TrEMBL
    A0A024R4F9
    Conserved Domains (2) summary
    pfam04300
    Location:72250
    FBA; F-box associated region
    pfam12937
    Location:651
    F-box-like
  9. XM_006711043.3XP_006711106.1  F-box only protein 44 isoform X1

    See identical proteins and their annotated locations for XP_006711106.1

    UniProtKB/TrEMBL
    B7Z1P2
    Conserved Domains (2) summary
    pfam04300
    Location:72120
    FBA; F-box associated region
    pfam12937
    Location:653
    F-box-like; F-box-like
  10. XM_017002842.2XP_016858331.1  F-box only protein 44 isoform X1

    UniProtKB/TrEMBL
    B7Z1P2
    Conserved Domains (2) summary
    pfam04300
    Location:72120
    FBA; F-box associated region
    pfam12937
    Location:653
    F-box-like; F-box-like
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