Human Gene SUGCT (uc003thn.2)
  Description: Homo sapiens chromosome 7 open reading frame 10 (SUGCT), transcript variant 3, mRNA.
RefSeq Summary (NM_001193313): This gene encodes a protein that is similar to members of the CaiB/baiF CoA-transferase protein family. Mutations in this gene are associated with glutaric aciduria type III. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010].
Transcript (Including UTRs)
   Position: hg19 chr7:40,174,575-40,900,366 Size: 725,792 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr7:40,174,599-40,900,078 Size: 725,480 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:40,174,575-40,900,366)mRNA (may differ from genome)Protein (445 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HPRDLynxMGIneXtProtOMIMPubMed
TreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: CG010_HUMAN
DESCRIPTION: RecName: Full=CaiB/baiF CoA-transferase family protein C7orf10; EC=2.-.-.-; AltName: Full=Dermal papilla-derived protein 13;
TISSUE SPECIFICITY: Highly expressed in kidney. Intermediate expression in liver, skeletal muscle and pancreas. Little to no expression detected in other tissues examined.
DISEASE: Defects in C7orf10 are the cause of glutaric aciduria type 3 (GA3) [MIM:231690]. GA3 is a metabolic disorder due to peroxisomal glutaryl-CoA oxidase deficiency and characterized by the excretion of abnormal quantities of glutaric acid but low 3- hydroxyglutaric acid.
SIMILARITY: Belongs to the CaiB/BaiF CoA-transferase family.

-  MalaCards Disease Associations
  MalaCards Gene Search: SUGCT
Diseases sorted by gene-association score: glutaric aciduria iii* (1650), glutaric acidemia type iii* (400), amyotrophic lateral sclerosis 4, juvenile (10), amyotrophic lateral sclerosis 3 (6), opportunistic mycosis (4), amyotrophic lateral sclerosis 1 (2)
* = Manually curated disease association

+  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: 6.93 RPKM in Adrenal Gland
Total median expression: 53.81 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 -3.2024-0.133 Picture PostScript Text
3' UTR -63.40288-0.220 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
IPR003673 - CoA-Trfase_fam_III
IPR023606 - CoA-Trfase_III_dom

Pfam Domains:
PF02515 - CoA-transferase family III

SCOP Domains:
89796 - CoA-transferase family III (CaiB/BaiF)

ModBase Predicted Comparative 3D Structure on Q9HAC7
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 orthologGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsemblFlyBase  
 Protein SequenceProtein SequenceProtein Sequence  
 AlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0016740 transferase activity
GO:0047369 succinate-hydroxymethylglutarate CoA-transferase activity

Cellular Component:
GO:0005739 mitochondrion


-  Descriptions from all associated GenBank mRNAs
  AK021870 - Homo sapiens cDNA FLJ11808 fis, clone HEMBA1006291, weakly similar to 2-ARYLPROPIONYL-COA EPIMERASE (EC 5.-.-.-).
BC098117 - Homo sapiens chromosome 7 open reading frame 10, mRNA (cDNA clone MGC:120365 IMAGE:40024552), complete cds.
BC098261 - Homo sapiens chromosome 7 open reading frame 10, mRNA (cDNA clone MGC:120366 IMAGE:40024553), complete cds.
BC098310 - Homo sapiens chromosome 7 open reading frame 10, mRNA (cDNA clone MGC:120368 IMAGE:40024556), complete cds.
BC098318 - Homo sapiens chromosome 7 open reading frame 10, mRNA (cDNA clone MGC:120367 IMAGE:40024555), complete cds.
AK299133 - Homo sapiens cDNA FLJ53086 complete cds.
KJ899564 - Synthetic construct Homo sapiens clone ccsbBroadEn_08958 C7orf10 gene, encodes complete protein.
KJ904877 - Synthetic construct Homo sapiens clone ccsbBroadEn_14271 C7orf10-like gene, encodes complete protein.
AK296048 - Homo sapiens cDNA FLJ56814 complete cds.
AK307935 - Homo sapiens cDNA, FLJ97883.
AB014767 - Homo sapiens mRNA for DERP13 (dermal papilla derived protein 13), complete cds.
AF086161 - Homo sapiens full length insert cDNA clone ZB76B10.
AK308764 - Homo sapiens cDNA, FLJ98805.
AK298516 - Homo sapiens cDNA FLJ53872 complete cds.
AF397013 - Homo sapiens C7orf10 protein mRNA, partial cds.
JD278996 - Sequence 260020 from Patent EP1572962.
JD137544 - Sequence 118568 from Patent EP1572962.
JD290061 - Sequence 271085 from Patent EP1572962.
JD048078 - Sequence 29102 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A4D1W5, B4DR73, C7orf10, CG010_HUMAN, DERP13, NM_001193313, NP_001180242, Q4KMW4, Q4KMW8, Q4KMZ0, Q8TE00, Q8TEY1, Q9HAC7
UCSC ID: uc003thn.2
RefSeq Accession: NM_001193313
Protein: Q9HAC7 (aka CG010_HUMAN)
CCDS: CCDS55105.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001193313.1
exon count: 14CDS single in 3' UTR: no RNA size: 1667
ORF size: 1338CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2823.50frame shift in genome: no % Coverage: 98.98
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.