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

Gene ID: 81545, updated on 5-Aug-2018

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; Vega:OTTHUMG00000129929
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; 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

Genomic context

See FBXO38 in Genome Data Viewer
Location:
5q32
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (148383935..148442836)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (147763498..147822399)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102546294 Neighboring gene serine peptidase inhibitor, Kazal type 7 (putative) Neighboring gene serine peptidase inhibitor, Kazal type 9 Neighboring gene PRELI domain containing 3B pseudogene 9 Neighboring gene uncharacterized LOC107986462 Neighboring gene 5-hydroxytryptamine receptor 4 Neighboring gene uncharacterized LOC105378221

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Distal hereditary motor neuronopathy 2D
MedGen: C3711384 OMIM: 615575 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of periodontal pathogen colonization.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
positive regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5001..63902
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271723.1NP_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:3065
    F-box; F-box domain
  2. NM_030793.4NP_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, OTTHUMP00000160381, ENST00000394370.7, OTTHUMT00000252184
    Conserved Domains (1) summary
    pfam00646
    Location:3265
    F-box; F-box domain
  3. NM_205836.2NP_995308.1  F-box only protein 38 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC091948, AC114939
    Consensus CDS
    CCDS4290.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    148383935..148442836
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009899.1XP_016865388.1  F-box only protein 38 isoform X3

  2. XM_005268513.2XP_005268570.1  F-box only protein 38 isoform X1

    UniProtKB/Swiss-Prot
    Q6PIJ6
    Related
    ENSP00000342023.5, OTTHUMP00000160382, ENST00000340253.9
    Conserved Domains (1) summary
    pfam00646
    Location:3065
    F-box; F-box domain
  3. XM_006714797.2XP_006714860.1  F-box only protein 38 isoform X2

    Conserved Domains (1) summary
    pfam00646
    Location:3265
    F-box; F-box domain
  4. XM_017009901.2XP_016865390.1  F-box only protein 38 isoform X5

  5. XM_017009902.2XP_016865391.1  F-box only protein 38 isoform X6

  6. XM_011537684.3XP_011535986.1  F-box only protein 38 isoform X4

  7. XM_017009900.2XP_016865389.1  F-box only protein 38 isoform X4

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

    Conserved Domains (1) summary
    pfam00646
    Location:3065
    F-box; F-box domain

RNA

  1. XR_001742284.1 RNA Sequence

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