U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 81545, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
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 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

Go to the top of the page Help
Preferred Names
F-box only protein 38
Names
modulator of KLF7 activity homolog

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous