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

Summary

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

Location:: 5q32

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (148383958..148442836)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (148918479..148977363)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (147763521..147822399)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of rare variants in the FBXO38 gene of patients with chronic inflammatory demyelinating polyradiculoneuropathy.
Title: Identification of rare variants in the FBXO38 gene of patients with chronic inflammatory demyelinating polyradiculoneuropathy.
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.
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.
USP7 Regulates Cytokinesis through FBXO38 and KIF20B.
Title: USP7 Regulates Cytokinesis through FBXO38 and KIF20B.
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.
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.
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.
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.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide searching of rare genetic variants in WTCCC data.

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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
acts_upstream_of_or_within positive regulation of neuron projection development	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
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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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

NG_033871.1 RefSeqGene

Range

5024..63902

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

148383958..148442836

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_047417784.1 → XP_047273740.1 F-box only protein 38 isoform X3
XM_047417786.1 → XP_047273742.1 F-box only protein 38 isoform X5
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
XM_047417785.1 → XP_047273741.1 F-box only protein 38 isoform X4
XM_047417789.1 → XP_047273745.1 F-box only protein 38 isoform X8
XM_047417787.1 → XP_047273743.1 F-box only protein 38 isoform X6
XM_047417788.1 → XP_047273744.1 F-box only protein 38 isoform X7