Human Gene FBXO38 (uc003lpg.2)
  Description: Homo sapiens F-box protein 38 (FBXO38), transcript variant 1, mRNA.
RefSeq Summary (NM_030793): 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].
Transcript (Including UTRs)
   Position: hg19 chr5:147,763,498-147,822,399 Size: 58,902 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr5:147,774,340-147,821,710 Size: 47,371 Coding Exon Count: 21 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:147,763,498-147,822,399)mRNA (may differ from genome)Protein (1113 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FBXO38
CDC HuGE Published Literature: FBXO38

-  MalaCards Disease Associations
  MalaCards Gene Search: FBXO38
Diseases sorted by gene-association score: neuronopathy, distal hereditary motor, type iid* (1200), distal hereditary motor neuropathy, type ii* (202)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • C049325 1,2-dithiol-3-thione
  • C029497 2,3-bis(3'-hydroxybenzyl)butyrolactone
  • C023514 2,6-dinitrotoluene
  • C518576 2-methylbutyric acid 4-((1,3)dioxan-5-ylmethoxyimino)-8-(2-(4-hydroxy-6-oxo-tetrahydropyran-2-yl)ethyl -7-methyl-6-oxo-1,2,3,4,6,7,8,8a-octahydronaphthyl)heptanoate
  • D000082 Acetaminophen
  • D001564 Benzo(a)pyrene
  • D002794 Choline
  • D003375 Coumestrol
  • D005492 Folic Acid
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.70 RPKM in Spleen
Total median expression: 408.06 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -50.70168-0.302 Picture PostScript Text
3' UTR -154.17689-0.224 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00646 - F-box domain

SCOP Domains:
81383 - F-box domain
52047 - RNI-like
52058 - L domain-like

ModBase Predicted Comparative 3D Structure on Q6PIJ6-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  KJ906338 - Synthetic construct Homo sapiens clone ccsbBroadEn_16008 FBXO38 gene, encodes complete protein.
AK308414 - Homo sapiens cDNA, FLJ98362.
BC033454 - Homo sapiens F-box protein 38, mRNA (cDNA clone MGC:21031 IMAGE:4510274), complete cds.
AK024024 - Homo sapiens cDNA FLJ13962 fis, clone Y79AA1001281.
BC050424 - Homo sapiens F-box protein 38, mRNA (cDNA clone MGC:54126 IMAGE:6472693), complete cds.
CU689628 - Synthetic construct Homo sapiens gateway clone IMAGE:100022729 5' read FBXO38 mRNA.
AB385244 - Synthetic construct DNA, clone: pF1KB9490, Homo sapiens FBXO38 gene for F-box only protein 38, complete cds, without stop codon, in Flexi system.
KJ899675 - Synthetic construct Homo sapiens clone ccsbBroadEn_09069 FBXO38 gene, encodes complete protein.
KJ903323 - Synthetic construct Homo sapiens clone ccsbBroadEn_12717 FBXO38 gene, encodes complete protein.
AF251055 - Homo sapiens 5-HT receptor mRNA, complete cds.
JD241667 - Sequence 222691 from Patent EP1572962.
JD297947 - Sequence 278971 from Patent EP1572962.
JD350030 - Sequence 331054 from Patent EP1572962.
BC005849 - Homo sapiens F-box protein 38, mRNA (cDNA clone IMAGE:2960128), partial cds.
BC005873 - Homo sapiens F-box protein 38, mRNA (cDNA clone IMAGE:2960128), partial cds.
JD130883 - Sequence 111907 from Patent EP1572962.
JD387584 - Sequence 368608 from Patent EP1572962.
AL832841 - Homo sapiens mRNA; cDNA DKFZp667C0225 (from clone DKFZp667C0225).
JD235033 - Sequence 216057 from Patent EP1572962.
JD295101 - Sequence 276125 from Patent EP1572962.
JD235486 - Sequence 216510 from Patent EP1572962.
JD171215 - Sequence 152239 from Patent EP1572962.
JD535359 - Sequence 516383 from Patent EP1572962.
BC047743 - Homo sapiens F-box protein 38, mRNA (cDNA clone IMAGE:6470232), containing frame-shift errors.
JD531612 - Sequence 512636 from Patent EP1572962.
JD332987 - Sequence 314011 from Patent EP1572962.
AK313558 - Homo sapiens cDNA, FLJ94119.
JD308740 - Sequence 289764 from Patent EP1572962.
AF177339 - Homo sapiens clone SP329 unknown mRNA.
BC056147 - Homo sapiens F-box protein 38, mRNA (cDNA clone IMAGE:6188076), complete cds.
JD467031 - Sequence 448055 from Patent EP1572962.
JD161093 - Sequence 142117 from Patent EP1572962.
BC078159 - Homo sapiens F-box protein 38, mRNA (cDNA clone IMAGE:6154694), partial cds.
BC015366 - Homo sapiens F-box protein 38, mRNA (cDNA clone IMAGE:3900838), partial cds.
CU691120 - Synthetic construct Homo sapiens gateway clone IMAGE:100021738 5' read FBXO38 mRNA.
JD058849 - Sequence 39873 from Patent EP1572962.
JD399115 - Sequence 380139 from Patent EP1572962.
JD464012 - Sequence 445036 from Patent EP1572962.
JD179246 - Sequence 160270 from Patent EP1572962.
JD564042 - Sequence 545066 from Patent EP1572962.
JD111597 - Sequence 92621 from Patent EP1572962.
JD437213 - Sequence 418237 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_030793, NP_110420, Q6PIJ6-2, SP329, uc003lpg.1
UCSC ID: uc003lpg.2
RefSeq Accession: NM_030793
Protein: Q6PIJ6-2, splice isoform of Q6PIJ6 CCDS: CCDS43384.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_030793.4
exon count: 22CDS single in 3' UTR: no RNA size: 4222
ORF size: 3342CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6864.50frame shift in genome: no % Coverage: 99.46
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.