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    FBXO38 F-box protein 38 [ Homo sapiens (human) ]

    Gene ID: 81545, updated on 2-May-2024

    Summary

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    Official Symbol
    FBXO38provided by HGNC
    Official Full Name
    F-box protein 38provided by HGNC
    Primary source
    HGNC:HGNC:28844
    See related
    Ensembl:ENSG00000145868 MIM:608533; AllianceGenome:HGNC:28844
    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
    MOKA; Fbx38; HMN2D; HMND6; SP329
    Summary
    This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozygous mutation in this gene was found in individuals with autosomal dominant distal hereditary motor neuronopathy type IID. There is a pseudogene for this gene on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
    Expression
    Ubiquitous expression in testis (RPKM 8.9), prostate (RPKM 8.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FBXO38 in Genome Data Viewer
    Location:
    5q32
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (148383958..148442836)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (148918479..148977363)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (147763521..147822399)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene FBXO38 divergent transcript Neighboring gene serine peptidase inhibitor Kazal type 7 Neighboring gene serine peptidase inhibitor Kazal type 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23363 Neighboring gene PRELI domain containing 3B pseudogene 9 Neighboring gene MPRA-validated peak5528 silencer Neighboring gene uncharacterized LOC107986462 Neighboring gene 5-hydroxytryptamine receptor 4 Neighboring gene NANOG hESC enhancer GRCh37_chr5:148099086-148099657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23366 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16492 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:148206489-148207074 Neighboring gene adrenoceptor beta 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Analysis of genetically driven alternative splicing identifies FBXO38 as a novel COPD susceptibility gene. Saferali A, et al. PLoS Genet, 2019 Jul. PMID 31269066, Free PMC Article
    2. Two-stage comprehensive evaluation of genetic susceptibility of common variants in FBXO38, AP3B2 and WHAMM to severe chronic periodontitis. Shang D, et al. Sci Rep, 2015 Dec 8. PMID 26643602, Free PMC Article
    3. A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. Sumner CJ, et al. Am J Hum Genet, 2013 Nov 7. PMID 24207122, Free PMC Article
    4. FBXO38 mediates PD-1 ubiquitination and regulates anti-tumour immunity of T cells. Meng X, et al. Nature, 2018 Dec. PMID 30487606
    5. Identification of MoKA, a novel F-box protein that modulates Krüppel-like transcription factor 7 activity. Smaldone S, et al. Mol Cell Biol, 2004 Feb. PMID 14729953, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FBXO38 deficiency promotes lysosome-dependent STING degradation and inhibits cGAS-STING pathway activation.
      Title: FBXO38 deficiency promotes lysosome-dependent STING degradation and inhibits cGAS-STING pathway activation.
    2. FBXO38 regulates macrophage polarization to control the development of cancer and colitis.
      Title: FBXO38 regulates macrophage polarization to control the development of cancer and colitis.
    3. USP7 Regulates Cytokinesis through FBXO38 and KIF20B.
      Title: USP7 Regulates Cytokinesis through FBXO38 and KIF20B.
    4. Study found that a COPD associated alternative splicing variant of previously unknown function may contribute to the inclusion of a new exon in the FBXO38 gene.
      Title: Analysis of genetically driven alternative splicing identifies FBXO38 as a novel COPD susceptibility gene.
    5. data indicate that FBXO38 regulates PD-1 expression and highlight an alternative method to block the PD-1 pathway
      Title: FBXO38 mediates PD-1 ubiquitination and regulates anti-tumour immunity of T cells.
    6. Our findings provide direct evidence for the association of FBXO38 and AP3B2 with severe chronic periodontitis in the Han Chinese population.
      Title: Two-stage comprehensive evaluation of genetic susceptibility of common variants in FBXO38, AP3B2 and WHAMM to severe chronic periodontitis.
    7. This publication identifies the F-box protein 38 mouse ortholog and characterizes its interaction with KLF7 during regulation of cell cycle progression.
      Title: Identification of MoKA, a novel F-box protein that modulates Krüppel-like transcription factor 7 activity.
    8. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide searching of rare genetic variants in WTCCC data.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Neuronopathy, distal hereditary motor, type 2D
    MedGen: C3888271 OMIM: 615575 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of periodontal pathogen colonization.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-like ligase-substrate adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of T cell activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of T cell mediated immune response to tumor cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein K48-linked ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein K48-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of SCF ubiquitin ligase complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    F-box only protein 38
    Names
    modulator of KLF7 activity homolog

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_033871.1 RefSeqGene

      Range
      5024..63902
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001271723.2 → NP_001258652.1  F-box only protein 38 isoform c

      See identical proteins and their annotated locations for NP_001258652.1

      Status: REVIEWED

      Source sequence(s)
      BC050424, BC078159, DA399611
      Consensus CDS
      CCDS64285.1
      UniProtKB/Swiss-Prot
      Q6PIJ6
      UniProtKB/TrEMBL
      Q6AZE0
      Related
      ENSP00000296701.6, ENST00000296701.10
      Conserved Domains (1) summary
      pfam00646
      Location:30 → 65
      F-box; F-box domain

    2. NM_030793.5 → NP_110420.3  F-box only protein 38 isoform a

      See identical proteins and their annotated locations for NP_110420.3

      Status: REVIEWED

      Source sequence(s)
      AF251055, AK024024, BC033454, BC078159, DA399611
      Consensus CDS
      CCDS43384.1
      UniProtKB/Swiss-Prot
      Q6PIJ6
      UniProtKB/TrEMBL
      Q6AZE0
      Related
      ENSP00000377895.3, ENST00000394370.7
      Conserved Domains (1) summary
      pfam00646
      Location:32 → 65
      F-box; F-box domain

    3. NM_205836.3 → NP_995308.1  F-box only protein 38 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC091948, AC114939
      Consensus CDS
      CCDS4290.1
      UniProtKB/Swiss-Prot
      Q6PIJ6, Q6PK72, Q7Z2U0, Q86VN3, Q9BXY6, Q9H837, Q9HC40
      Related
      ENSP00000342023.6, ENST00000340253.10
      Conserved Domains (1) summary
      pfam00646
      Location:32 → 65
      F-box; F-box domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      148383958..148442836
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446223.2 → XP_024301991.1  F-box only protein 38 isoform X1

      UniProtKB/Swiss-Prot
      Q6PIJ6, Q6PK72, Q7Z2U0, Q86VN3, Q9BXY6, Q9H837, Q9HC40
      Conserved Domains (1) summary
      pfam00646
      Location:32 → 65
      F-box; F-box domain

    2. XM_047417784.1 → XP_047273740.1  F-box only protein 38 isoform X3

    3. XM_047417786.1 → XP_047273742.1  F-box only protein 38 isoform X5

    4. XM_006714797.3 → XP_006714860.1  F-box only protein 38 isoform X2

      Conserved Domains (1) summary
      pfam00646
      Location:32 → 65
      F-box; F-box domain

    5. XM_047417785.1 → XP_047273741.1  F-box only protein 38 isoform X4

    6. XM_047417789.1 → XP_047273745.1  F-box only protein 38 isoform X8

    7. XM_047417787.1 → XP_047273743.1  F-box only protein 38 isoform X6

    8. XM_047417788.1 → XP_047273744.1  F-box only protein 38 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      148918479..148977363
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353571.1 → XP_054209546.1  F-box only protein 38 isoform X1

      UniProtKB/Swiss-Prot
      Q6PIJ6, Q6PK72, Q7Z2U0, Q86VN3, Q9BXY6, Q9H837, Q9HC40

    2. XM_054353573.1 → XP_054209548.1  F-box only protein 38 isoform X3

    3. XM_054353575.1 → XP_054209550.1  F-box only protein 38 isoform X5

    4. XM_054353572.1 → XP_054209547.1  F-box only protein 38 isoform X2

    5. XM_054353574.1 → XP_054209549.1  F-box only protein 38 isoform X4

    6. XM_054353578.1 → XP_054209553.1  F-box only protein 38 isoform X8

    7. XM_054353576.1 → XP_054209551.1  F-box only protein 38 isoform X6

    8. XM_054353577.1 → XP_054209552.1  F-box only protein 38 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PIJ6.3 GenPept UniProtKB/Swiss-Prot:Q6PIJ6

    Gene LinkOut

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

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