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    SDHC succinate dehydrogenase complex subunit C [ Homo sapiens (human) ]

    Gene ID: 6391, updated on 3-Dec-2024

    Summary

    Official Symbol
    SDHCprovided by HGNC
    Official Full Name
    succinate dehydrogenase complex subunit Cprovided by HGNC
    Primary source
    HGNC:HGNC:10682
    See related
    Ensembl:ENSG00000143252 MIM:602413; AllianceGenome:HGNC:10682
    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
    CYBL; PGL3; QPS1; SDH3; PPGL3; CYB560
    Summary
    This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]
    Expression
    Ubiquitous expression in kidney (RPKM 80.5), liver (RPKM 66.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SDHC in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161314381..161363206)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160451814..160500650)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161284171..161332996)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904442 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161283747-161284510 Neighboring gene myelin protein zero Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:161286037-161286798 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:161326501-161326699 Neighboring gene NANOG hESC enhancer GRCh37_chr1:161334969-161335471 Neighboring gene cilia and flagella associated protein 126 Neighboring gene ribonucleotide reductase M2 polypeptide pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in SDHC that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Carney-Stratakis syndrome
    MedGen: C1847319 OMIM: 606864 GeneReviews: Not available
    Compare labs
    Gastrointestinal stromal tumor
    MedGen: C0238198 OMIM: 606764 GeneReviews: Not available
    Compare labs
    Paragangliomas 3 Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-10-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-13)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables electron transfer activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables heme binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    succinate dehydrogenase cytochrome b560 subunit, mitochondrial
    Names
    cytochrome B large subunit of complex II
    integral membrane protein CII-3b
    large subunit of cytochrome b
    malate dehydrogenase [quinone] cytochrome b560 subunit
    succinate dehydrgenase cytochrome b
    succinate dehydrogenase 3, integral membrane subunit
    succinate dehydrogenase complex subunit C integral membrane protein 15kDa
    succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD
    succinate-ubiquinone oxidoreductase cytochrome B large subunit

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012767.1 RefSeqGene

      Range
      5001..55376
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_317

    mRNA and Protein(s)

    1. NM_001035511.3NP_001030588.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001030588.1

      Status: REVIEWED

      Source sequence(s)
      AL592295
      Consensus CDS
      CCDS41431.1
      UniProtKB/Swiss-Prot
      Q99643
      Related
      ENSP00000356952.3, ENST00000342751.8
      Conserved Domains (1) summary
      cl00881
      Location:5079
      SQR_QFR_TM; Succinate:quinone oxidoreductase (SQR) and Quinol:fumarate reductase (QFR) family, transmembrane subunits; SQR catalyzes the oxidation of succinate to fumarate coupled to the reduction of quinone to quinol, while QFR catalyzes the reverse reaction. SQR, ...
    2. NM_001035512.3NP_001030589.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 3 precursor

      See identical proteins and their annotated locations for NP_001030589.1

      Status: REVIEWED

      Source sequence(s)
      AL592295
      Consensus CDS
      CCDS44263.1
      UniProtKB/TrEMBL
      B4DEL5
      Related
      ENSP00000390558.2, ENST00000432287.6
      Conserved Domains (1) summary
      cd03499
      Location:19118
      SQR_TypeC_SdhC; Succinate:quinone oxidoreductase (SQR) Type C subfamily, Succinate dehydrogenase C (SdhC) subunit; composed of bacterial SdhC and eukaryotic large cytochrome b binding (CybL) proteins. SQR catalyzes the oxidation of succinate to fumarate coupled to the ...
    3. NM_001035513.3NP_001030590.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 4 precursor

      See identical proteins and their annotated locations for NP_001030590.1

      Status: REVIEWED

      Source sequence(s)
      AL592295
      Consensus CDS
      CCDS41432.1
      UniProtKB/TrEMBL
      A0A0S2Z4C9, B4DEL5
      Related
      ENSP00000376009.2, ENST00000392169.6
      Conserved Domains (1) summary
      cd03499
      Location:8115
      SQR_TypeC_SdhC; Succinate:quinone oxidoreductase (SQR) Type C subfamily, Succinate dehydrogenase C (SdhC) subunit; composed of bacterial SdhC and eukaryotic large cytochrome b binding (CybL) proteins. SQR catalyzes the oxidation of succinate to fumarate coupled to the ...
    4. NM_001278172.3NP_001265101.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 5 precursor

      See identical proteins and their annotated locations for NP_001265101.1

      Status: REVIEWED

      Source sequence(s)
      AL592295
      Consensus CDS
      CCDS60330.1
      UniProtKB/TrEMBL
      A0AAQ5BH99
      Related
      ENSP00000423260.1, ENST00000513009.5
      Conserved Domains (1) summary
      cl00881
      Location:1945
      SQR_QFR_TM; Succinate:quinone oxidoreductase (SQR) and Quinol:fumarate reductase (QFR) family, transmembrane subunits; SQR catalyzes the oxidation of succinate to fumarate coupled to the reduction of quinone to quinol, while QFR catalyzes the reverse reaction. SQR, ...
    5. NM_001407115.1NP_001394044.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AL592295
      UniProtKB/TrEMBL
      Q6IAQ2
    6. NM_001407116.1NP_001394045.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AL592295
      UniProtKB/TrEMBL
      Q6IAQ2
    7. NM_001407117.1NP_001394046.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 8 precursor

      Status: REVIEWED

      Source sequence(s)
      AL592295
      UniProtKB/TrEMBL
      Q6IAQ2
    8. NM_001407118.1NP_001394047.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 9 precursor

      Status: REVIEWED

      Source sequence(s)
      AL592295
      UniProtKB/TrEMBL
      B4DEL5
    9. NM_001407119.1NP_001394048.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL592295
      UniProtKB/TrEMBL
      A0AAQ5BHE7, B4DEL5
      Related
      ENSP00000519356.1, ENST00000714065.1
    10. NM_001407120.1NP_001394049.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL592295
      UniProtKB/TrEMBL
      A0AAQ5BHE7, B4DEL5
      Related
      ENSP00000519355.1, ENST00000714064.1
    11. NM_001407121.1NP_001394050.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 11 precursor

      Status: REVIEWED

      Source sequence(s)
      AL592295
      UniProtKB/TrEMBL
      A0AAQ5BH99
      Related
      ENSP00000519353.1, ENST00000515731.2
    12. NM_003001.5NP_002992.1  succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_002992.1

      Status: REVIEWED

      Source sequence(s)
      AL592295
      Consensus CDS
      CCDS1230.1
      UniProtKB/Swiss-Prot
      O75609, Q3C259, Q3C2D8, Q3C2H4, Q5VTH3, Q99643
      UniProtKB/TrEMBL
      A0A0S2Z4B7, Q6IAQ2
      Related
      ENSP00000356953.3, ENST00000367975.7
      Conserved Domains (1) summary
      cd03499
      Location:50152
      SQR_TypeC_SdhC; Succinate:quinone oxidoreductase (SQR) Type C subfamily, Succinate dehydrogenase C (SdhC) subunit; composed of bacterial SdhC and eukaryotic large cytochrome b binding (CybL) proteins. SQR catalyzes the oxidation of succinate to fumarate coupled to the ...

    RNA

    1. NR_103459.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL592295
      Related
      ENST00000470743.5

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      161314381..161363206
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      160451814..160500650
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)