FBXO38 - F-box protein 38 Gene

Also Known as MOKA; Fbx38; HMN2D; SP329

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 81545

About FBXO38

Cytogenetic location: 5q32 Genomic coordinates (GRCh38): 5:148,383,958-148,442,836 (from NCBI)

This gene has 20 transcripts (splice variants), 198 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 8.9), prostate (RPKM 8.6) and 25 other tissues.

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]

FBXO38 Products (3)

mRNA	Protein	Name
NM_001271723.2	NP_001258652.1	F-box only protein 38 isoform c
NM_030793.5	NP_110420.3	F-box only protein 38 isoform a
NM_205836.3	NP_995308.1	F-box only protein 38 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	30487606	GOA
enables ubiquitin-like ligase-substrate adaptor activity	IDA IDA: Inferred from direct assay	30487606	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	30487606	GOA
involved in positive regulation of T cell activation	IDA IDA: Inferred from direct assay	30487606	GOA
involved in positive regulation of T cell mediated immune response to tumor cell	IDA IDA: Inferred from direct assay	30487606	GOA
acts upstream of or within positive regulation of neuron projection development	IDA IDA: Inferred from direct assay	24207122	GOA
involved in protein K48-linked ubiquitination	IDA IDA: Inferred from direct assay	30487606	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	24207122	GOA
located in nucleus	IDA IDA: Inferred from direct assay	24207122	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FBXO38 Protein Structure

F-box

0
200
400
600
800
1000
1188 a.a.

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

Related Diseases

Diseases	Alias
Neuronopathy, Distal Hereditary Motor, Type Iid	HMN2D Hmn Iid Dhmn2d Distal Hereditary Motor Neuronopathy Type 2d Distal Hereditary Motor Neuropathy Type Iid Neuronopathy, Distal Hereditary Motor, Type 2d Neuropathy, Distal Hereditary Motor, Type Iid Spinal Muscular Atrophy, Distal, Autosomal Dominant, Calf-Predominant Distal Spinal Muscular Atrophy With Calf Predominance Neuronopathy, Distal Hereditary Motor, 2d Autosomal Dominant Spinal Muscular Atrophy Distal Calf-Predominant Dhmn Iid Neuropathy, Motor, Distal, Hereditary, Type 2d
Distal Hereditary Motor Neuronopathy Type 2	Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy Type 2 Distal Hereditary Motor Neuropathy Type Ii Hmn Ii Hmn2 Distal Hereditary Motor Neuronopathy, Type Ii Distal Spinal Muscular Atrophy Type 2 Dhmn2 Dsma2 Neuropathy, Motor, Distal, Hereditary, Type Ii Spinal Muscular Atrophy, Jerash Type
Autosomal Dominant Distal Hereditary Motor Neuronopathy	Autosomal Dominant Distal Hereditary Motor Neuropathy Autosomal Dominant Dhmn Autosomal Dominant Distal Spinal Muscular Atrophy
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Gender Incongruence	Gender Dysphoria Transsexualism Gender Identify Disorder
Non-Syndromic X-Linked Intellectual Disability 103	Mrx103 X-Linked Mental Retardation 103
Ataxia, Sensory, 1, Autosomal Dominant	Autosomal Dominant Sensory Ataxia 1 SNAX1 Adsa Ataxia, Sensory, Type 1, Autosomal Dominant Ataxia, Sensory, Autosomal Dominant
Syndromic X-Linked Intellectual Disability Turner Type	Mental Retardation, X-Linked Syndromic, Turner Type Intellectual Disability, X-Linked Syndromic, Turner Type Brooks-Wisniewski-Brown Syndrome Mental Retardation And Macrocephaly Syndrome Mrxst X-Linked Intellectual Disability, Brooks Type Mental Retardation, X-Linked, Syndromic, Turner Type
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04805	FBXO38 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	FBXO38	VGNC	VGNC:62189
Rattus norvegicus	FBXO38	RGD	RGD:1311505
Mus musculus	FBXO38	MGD	MGI:2444639
Macaca mulatta	FBXO38	VGNC	VGNC:72590
Canis familiaris	FBXO38	VGNC	VGNC:40777
Bos taurus	FBXO38	VGNC	VGNC:28908