Human Gene MTHFSD (uc002fjp.2) Description and Page Index
  Description: Homo sapiens methenyltetrahydrofolate synthetase domain containing (MTHFSD), transcript variant 5, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr16:86,574,326-86,588,354 Size: 14,029 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr16:86,574,796-86,588,313 Size: 13,518 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr16:86,574,326-86,588,354)mRNA (may differ from genome)Protein (209 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
PubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: SubName: Full=Methenyltetrahydrofolate synthase domain-containing protein; Flags: Fragment;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MTHFSD
CDC HuGE Published Literature: MTHFSD
Positive Disease Associations: smoking cessation
Related Studies:
  1. smoking cessation
    Uhl ,et al. Pharmacogenomics 2010, Genome-wide association for smoking cessation success: participants in the Patch in Practice trial of nicotine replacement , Pharmacogenomics 2010 11- 3 : 357-67. [PubMed 20235792]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.32 RPKM in Testis
Total median expression: 167.99 RPKM

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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.5041-0.183 Picture PostScript Text
3' UTR -156.60470-0.333 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
  InterPro Domains: Graphical view of domain structure
IPR002698 - FTHF_cligase
IPR024185 - FTHF_cligase-like

Pfam Domains:
PF01812 - 5-formyltetrahydrofolate cyclo-ligase family

SCOP Domains:
100950 - NagB/RpiA/CoA transferase-like

ModBase Predicted Comparative 3D Structure on H3BSD1
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
  AK096836 - Homo sapiens cDNA FLJ39517 fis, clone PUAEN2000394.
AK023060 - Homo sapiens cDNA FLJ12998 fis, clone NT2RP3000267.
AK023955 - Homo sapiens cDNA FLJ13893 fis, clone THYRO1001661.
BC112057 - Homo sapiens methenyltetrahydrofolate synthetase domain containing, mRNA (cDNA clone MGC:138262 IMAGE:8327525), complete cds.
BC112059 - Homo sapiens methenyltetrahydrofolate synthetase domain containing, mRNA (cDNA clone MGC:138264 IMAGE:8327527), complete cds.
BC143702 - Homo sapiens cDNA clone MGC:177233 IMAGE:9052216, complete cds.
BC143703 - Homo sapiens cDNA clone IMAGE:9052217, with apparent retained intron.
BC143704 - Homo sapiens cDNA clone IMAGE:9052218.
BC143705 - Homo sapiens cDNA clone IMAGE:9052219.
BC143707 - Homo sapiens methenyltetrahydrofolate synthetase domain containing, mRNA (cDNA clone MGC:177238 IMAGE:9052221), complete cds.
AK297726 - Homo sapiens cDNA FLJ61139 complete cds.
KJ899473 - Synthetic construct Homo sapiens clone ccsbBroadEn_08867 MTHFSD gene, encodes complete protein.
BC013911 - Homo sapiens methenyltetrahydrofolate synthetase domain containing, mRNA (cDNA clone IMAGE:4064921).

-  Other Names for This Gene
  Alternate Gene Symbols: BC013911, H3BSD1, H3BSD1_HUMAN, NM_022764, NP_073601
UCSC ID: uc002fjp.2
RefSeq Accession: NM_022764
Protein: H3BSD1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: BC013911.2
exon count: 7CDS single in 3' UTR: no RNA size: 1172
ORF size: 630CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1460.00frame shift in genome: no % Coverage: 97.35
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.