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Gene id 79783
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary

Gene Symbol SUGCT   Gene   UCSC   Ensembl
Aliases C7orf10, DERP13, GA3, ORF19
Gene name succinyl-CoA:glutarate-CoA transferase
Alternate names succinate--hydroxymethylglutarate CoA-transferase, Russel-Silver syndrome candidate, dermal papilla-derived protein 13, succinylCoA:glutarate-CoA transferase,
Gene location 7p14.1 (40134886: 40860762)     Exons: 21     NC_000007.14
Gene summary(Entrez) 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,
OMIM 609187

Protein Summary

Protein general information Q9HAC7  

Name: Succinate hydroxymethylglutarate CoA transferase (EC 2.8.3.13) (Dermal papilla derived protein 13) (SuccinylCoA:glutarate CoA transferase)

Length: 445  Mass: 48462

Tissue specificity: Highly expressed in kidney. Intermediate expression in liver, skeletal muscle and pancreas. Little to no expression detected in other tissues examined. {ECO

Sequence MPSETHAMLATLARVAALRRTCLFSGRGGGRGLWTGRPQSDMNNIKPLEGVKILDLTRVLAGPFATMNLGDLGAE
VIKVERPGAGDDTRTWGPPFVGTESTYYLSVNRNKKSIAVNIKDPKGVKIIKELAAVCDVFVENYVPGKLSAMGL
GYEDIDEIAPHIIYCSITGYGQTGPISQRAGYDAVASAVSGLMHITGPENGDPVRPGVAMTDLATGLYAYGAIMA
GLIQKYKTGKGLFIDCNLLSSQVACLSHIAANYLIGQKEAKRWGTAHGSIVPYQAFKTKDGYIVVGAGNNQQFAT
VCKILDLPELIDNSKYKTNHLRVHNRKELIKILSERFEEELTSKWLYLFEGSGVPYGPINNMKNVFAEPQVLHNG
LVMEMEHPTVGKISVPGPAVRYSKFKMSEARPPPLLGQHTTHILKEVLRYDDRAIGELLSAGVVDQHETH
Structural information
Interpro:  IPR003673  IPR023606  
STRING:   ENSP00000338475
Other Databases GeneCards:  SUGCT  Malacards:  SUGCT

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0047369 succinate-hydroxymethylgl
utarate CoA-transferase a
ctivity
IDA molecular function
GO:0005739 mitochondrion
IDA cellular component
GO:0008410 CoA-transferase activity
IEA molecular function
GO:0016740 transferase activity
IEA molecular function
GO:0005739 mitochondrion
IEA cellular component
GO:0047369 succinate-hydroxymethylgl
utarate CoA-transferase a
ctivity
IEA molecular function
GO:0005739 mitochondrion
IEA cellular component
Associated diseases References
Glutaric acidemia KEGG:H00178
Glutaric acidemia KEGG:H00178
Cryptorchidism MIK: 28606200
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract