Q9HAC7

PR
Gene name
SUGCT (C7orf10, DERP13)
Protein name
Succinate--hydroxymethylglutarate CoA-transferase
Names
Dermal papilla-derived protein 13, SuccinylCoA:glutarate-CoA transferase
Species
Homo sapiens (Human)
KEGG Pathway
hsa:79783
EC number
2.8.3.13: CoA-transferases
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-74 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q9HAC7

Entry ID Method Resolution Chain Position Source
AF-Q9HAC7-F1 Predicted AlphaFoldDB

1 variants for Q9HAC7

Variant ID(s) Position Change Description Diseaes Association Provenance
rs137852860
VAR_054852
CA115225
RCV000001923
RCV000413225
 336 R>W Glutaryl-CoA oxidase deficiency GA3; inactive enzyme; healthy individuals who have abnormal quantities of glutaric acid but low 3-hydroxyglutaric acid [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD

1 associated diseases with Q9HAC7

[MIM: 231690]: Glutaric aciduria 3 (GA3)

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. {ECO:0000269|PubMed:18926513, ECO:0000269|PubMed:23893049}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • 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. {ECO:0000269|PubMed:18926513, ECO:0000269|PubMed:23893049}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q9HAC7

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9HAC7

Functions

Description
EC Number 2.8.3.13 CoA-transferases
Subcellular Localization
  • Mitochondrion
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

1 GO annotations of molecular function

Name Definition
succinate-hydroxymethylglutarate CoA-transferase activity Catalysis of the reaction: (S)-3-hydroxy-3-methylglutarate + succinyl-CoA = 3-hydroxy-3-methyl-glutaryl-CoA + succinate.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q7TNE1 Sugct Succinate--hydroxymethylglutarate CoA-transferase Mus musculus (Mouse) PR
Q68FU4 Sugct Succinate--hydroxymethylglutarate CoA-transferase Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MPSETHAMLA TLARVAALRR TCLFSGRGGG RGLWTGRPQS DMNNIKPLEG VKILDLTRVL
70 80 90 100 110 120
AGPFATMNLG DLGAEVIKVE RPGAGDDTRT WGPPFVGTES TYYLSVNRNK KSIAVNIKDP
130 140 150 160 170 180
KGVKIIKELA AVCDVFVENY VPGKLSAMGL GYEDIDEIAP HIIYCSITGY GQTGPISQRA
190 200 210 220 230 240
GYDAVASAVS GLMHITGPEN GDPVRPGVAM TDLATGLYAY GAIMAGLIQK YKTGKGLFID
250 260 270 280 290 300
CNLLSSQVAC LSHIAANYLI GQKEAKRWGT AHGSIVPYQA FKTKDGYIVV GAGNNQQFAT
310 320 330 340 350 360
VCKILDLPEL IDNSKYKTNH LRVHNRKELI KILSERFEEE LTSKWLYLFE GSGVPYGPIN
370 380 390 400 410 420
NMKNVFAEPQ VLHNGLVMEM EHPTVGKISV PGPAVRYSKF KMSEARPPPL LGQHTTHILK
430 440
EVLRYDDRAI GELLSAGVVD QHETH