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    SUGCT succinyl-CoA:glutarate-CoA transferase [ Homo sapiens (human) ]

    Gene ID: 79783, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SUGCTprovided by HGNC
    Official Full Name
    succinyl-CoA:glutarate-CoA transferaseprovided by HGNC
    Primary source
    HGNC:HGNC:16001
    See related
    Ensembl:ENSG00000175600 MIM:609187; AllianceGenome:HGNC:16001
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GA3; ORF19; DERP13; C7orf10
    Summary
    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]
    Expression
    Biased expression in kidney (RPKM 3.4), liver (RPKM 1.2) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SUGCT in Genome Data Viewer
    Location:
    7p14.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (40135005..41038816)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (40292462..41196673)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (40174604..40900362)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25890 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18118 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:40186973-40188172 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:40188525-40189421 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 7 Neighboring gene THUMP domain containing 3 pseudogene 1 Neighboring gene M-phase specific PLK1 interacting protein Neighboring gene uncharacterized LOC105375245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25891 Neighboring gene MPRA-validated peak6500 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25892 Neighboring gene Sharpr-MPRA regulatory region 14136 Neighboring gene uncharacterized LOC105375244 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:40608892-40609475 Neighboring gene SUGCT antisense RNA 1 Neighboring gene uncharacterized LOC105375243 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:40750799-40751998 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:40756566-40757765 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:40854869-40855369 Neighboring gene uncharacterized LOC112267984 Neighboring gene uncharacterized LOC105375242 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:40924401-40925600 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:41045810-41047009 Neighboring gene long intergenic non-protein coding RNA 1450 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:41068008-41069207 Neighboring gene Sharpr-MPRA regulatory region 15680 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:41098757-41099608 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:41104940-41106139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25895 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:41146908-41148107 Neighboring gene uncharacterized LOC105375241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:41174879-41175380 Neighboring gene long intergenic non-protein coding RNA 1449 Neighboring gene uncharacterized LOC105375246

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains.
      Title: Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains.
    2. Chromosome microarray analysis showed a 125kb homozygous pathogenic deletion, which includes genes MPLKIP and SUGCT, not described before. This is the first case described in Peru of a novel contiguous gene deletion of Trichothiodystrophy type 4 and Glutaric aciduria type 3 performed by chromosome microarray analysis.
      Title: Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3.
    3. C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, which is the enzyme that converts glutarate to glutaryl-CoA
      Title: C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA.
    4. Identified as a candidate disease gene for OXPHOS disorders by next-generation sequencing
      Title: Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. Geneic mapping of GA3 to chromosome 7 and identification of mutations in c7orf10 are reported.
      Title: Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Glutaryl-CoA oxidase deficiency
    MedGen: C0342873 OMIM: 231690 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11808, FLJ53872

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables succinate-hydroxymethylglutarate CoA-transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables succinate-hydroxymethylglutarate CoA-transferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    succinate--hydroxymethylglutarate CoA-transferase
    Names
    Russel-Silver syndrome candidate
    dermal papilla-derived protein 13
    succinylCoA:glutarate-CoA transferase
    NP_001180240.2
    NP_001180241.2
    NP_001180242.2
    NP_079004.2
    XP_006715838.2
    XP_011513827.2
    XP_011513828.1
    XP_011513829.2
    XP_011513831.2
    XP_011513832.2
    XP_016868110.1
    XP_016868111.2
    XP_047276796.1
    XP_047276797.1
    XP_047276798.1
    XP_047276799.1
    XP_054214984.1
    XP_054214985.1
    XP_054214986.1
    XP_054214987.1
    XP_054214988.1
    XP_054214989.1
    XP_054214990.1
    XP_054214991.1
    XP_054214992.1
    XP_054214993.1
    XP_054214994.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023422.3 RefSeqGene

      Range
      5002..730760
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193311.2 → NP_001180240.2  succinate--hydroxymethylglutarate CoA-transferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC005160, AK296048, BC098318
      Consensus CDS
      CCDS55104.2
      Related
      ENSP00000486291.2, ENST00000628514.3
      Conserved Domains (1) summary
      COG1804
      Location:39 → 458
      CaiB; Crotonobetainyl-CoA:carnitine CoA-transferase CaiB and related acyl-CoA transferases [Lipid transport and metabolism]

    2. NM_001193312.2 → NP_001180241.2  succinate--hydroxymethylglutarate CoA-transferase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two in-frame exons in the coding region, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AC005160, BC098310
      Consensus CDS
      CCDS55106.2
      Related
      ENSP00000385222.3, ENST00000401647.7
      Conserved Domains (1) summary
      COG1804
      Location:39 → 384
      CaiB; Crotonobetainyl-CoA:carnitine CoA-transferase CaiB and related acyl-CoA transferases [Lipid transport and metabolism]

    3. NM_001193313.2 → NP_001180242.2  succinate--hydroxymethylglutarate CoA-transferase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, compared to variant 1. This variant encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      AC005160, AK021870, AK296048
      Consensus CDS
      CCDS55105.2
      UniProtKB/Swiss-Prot
      A4D1W5, B4DJF0, B4DR73, Q4KMW4, Q4KMW8, Q4KMZ0, Q8TE00, Q8TEY1, Q9HAC7
      UniProtKB/TrEMBL
      H0Y4N1
      Related
      ENSP00000338475.5, ENST00000335693.9
      Conserved Domains (1) summary
      COG1804
      Location:39 → 432
      CaiB; Crotonobetainyl-CoA:carnitine CoA-transferase CaiB and related acyl-CoA transferases [Lipid transport and metabolism]

    4. NM_024728.3 → NP_079004.2  succinate--hydroxymethylglutarate CoA-transferase isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 4, which is shorter than isoform 1.
      Source sequence(s)
      AC005160, AK021870, AK299133
      Conserved Domains (1) summary
      COG1804
      Location:39 → 421
      CaiB; Crotonobetainyl-CoA:carnitine CoA-transferase CaiB and related acyl-CoA transferases [Lipid transport and metabolism]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      40135005..41038816
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420840.1 → XP_047276796.1  succinate--hydroxymethylglutarate CoA-transferase isoform X4

    2. XM_047420843.1 → XP_047276799.1  succinate--hydroxymethylglutarate CoA-transferase isoform X11

    3. XM_011515525.4 → XP_011513827.2  succinate--hydroxymethylglutarate CoA-transferase isoform X1

    4. XM_006715775.4 → XP_006715838.2  succinate--hydroxymethylglutarate CoA-transferase isoform X2

    5. XM_011515527.4 → XP_011513829.2  succinate--hydroxymethylglutarate CoA-transferase isoform X6

    6. XM_011515529.4 → XP_011513831.2  succinate--hydroxymethylglutarate CoA-transferase isoform X9

    7. XM_047420841.1 → XP_047276797.1  succinate--hydroxymethylglutarate CoA-transferase isoform X8

    8. XM_017012622.3 → XP_016868111.2  succinate--hydroxymethylglutarate CoA-transferase isoform X7

    9. XM_011515530.4 → XP_011513832.2  succinate--hydroxymethylglutarate CoA-transferase isoform X12

    10. XM_047420842.1 → XP_047276798.1  succinate--hydroxymethylglutarate CoA-transferase isoform X10

    11. XM_011515526.2 → XP_011513828.1  succinate--hydroxymethylglutarate CoA-transferase isoform X3

      Conserved Domains (1) summary
      COG1804
      Location:20 → 465
      CaiB; Crotonobetainyl-CoA:carnitine CoA-transferase CaiB and related acyl-CoA transferases [Lipid transport and metabolism]

    12. XM_017012621.1 → XP_016868110.1  succinate--hydroxymethylglutarate CoA-transferase isoform X5

    RNA

    1. XR_007060157.1 RNA Sequence

    2. XR_007060158.1 RNA Sequence

    3. XR_007060156.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      40292462..41196673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359018.1 → XP_054214993.1  succinate--hydroxymethylglutarate CoA-transferase isoform X11

    2. XM_054359009.1 → XP_054214984.1  succinate--hydroxymethylglutarate CoA-transferase isoform X1

    3. XM_054359010.1 → XP_054214985.1  succinate--hydroxymethylglutarate CoA-transferase isoform X2

    4. XM_054359013.1 → XP_054214988.1  succinate--hydroxymethylglutarate CoA-transferase isoform X6

    5. XM_054359016.1 → XP_054214991.1  succinate--hydroxymethylglutarate CoA-transferase isoform X9

    6. XM_054359015.1 → XP_054214990.1  succinate--hydroxymethylglutarate CoA-transferase isoform X8

    7. XM_054359014.1 → XP_054214989.1  succinate--hydroxymethylglutarate CoA-transferase isoform X7

    8. XM_054359019.1 → XP_054214994.1  succinate--hydroxymethylglutarate CoA-transferase isoform X12

    9. XM_054359017.1 → XP_054214992.1  succinate--hydroxymethylglutarate CoA-transferase isoform X10

    10. XM_054359011.1 → XP_054214986.1  succinate--hydroxymethylglutarate CoA-transferase isoform X3

    11. XM_054359012.1 → XP_054214987.1  succinate--hydroxymethylglutarate CoA-transferase isoform X5

    RNA

    1. XR_008487756.1 RNA Sequence

    2. XR_008487757.1 RNA Sequence

    3. XR_008487755.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HAC7.3 GenPept UniProtKB/Swiss-Prot:Q9HAC7

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