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    GCSH glycine cleavage system protein H [ Homo sapiens (human) ]

    Gene ID: 2653, updated on 17-Jun-2024

    Summary

    Official Symbol
    GCSHprovided by HGNC
    Official Full Name
    glycine cleavage system protein Hprovided by HGNC
    Primary source
    HGNC:HGNC:4208
    See related
    Ensembl:ENSG00000140905 MIM:238330; AllianceGenome:HGNC:4208
    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
    GCE; NKH; MMDS7
    Summary
    Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]
    Expression
    Broad expression in thyroid (RPKM 44.9), kidney (RPKM 31.4) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GCSH in Genome Data Viewer
    Location:
    16q23.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (81081945..81096395, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (87143482..87157585, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (81115550..81130000, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene CENPN antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7750 Neighboring gene ATM interactor Neighboring gene chromosome 16 open reading frame 46 Neighboring gene uncharacterized LOC105371361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11176 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81110606-81111266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81111267-81111925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7752 Neighboring gene RNA, U6 small nuclear 1191, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81150474-81151032 Neighboring gene polycystin 1 like 2 (gene/pseudogene) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81171151-81171768 Neighboring gene Sharpr-MPRA regulatory region 3111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:81191716-81192216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:81246022-81246522 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:81255488-81255706 Neighboring gene beta-carotene oxygenase 1

    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?

    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 aminomethyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in glycine catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in glycine decarboxylation via glycine cleavage system IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein lipoylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein lipoylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of glycine cleavage complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    glycine cleavage system H protein, mitochondrial
    Names
    glycine cleavage system protein H (aminomethyl carrier)
    lipoic acid-containing protein
    mitochondrial glycine cleavage system H-protein

    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_016427.1 RefSeqGene

      Range
      5001..19429
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_541

    mRNA and Protein(s)

    1. NM_004483.5NP_004474.2  glycine cleavage system H protein, mitochondrial precursor

      See identical proteins and their annotated locations for NP_004474.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and is the protein-coding variant.
      Source sequence(s)
      AC092718, AV696698, BF798008, CN283809
      Consensus CDS
      CCDS10933.1
      UniProtKB/Swiss-Prot
      P23434, Q9H1E9
      UniProtKB/TrEMBL
      Q53XL7
      Related
      ENSP00000319531.3, ENST00000315467.9
      Conserved Domains (1) summary
      PRK01202
      Location:51170
      PRK01202; glycine cleavage system protein GcvH

    RNA

    1. NR_033249.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1, that causes a frameshift that makes the transcript a candidate for nonsense-mediated mRNA decay (NMD). Therefore, it is thought that this transcript does not encode a protein.
      Source sequence(s)
      AC092718, CN283805, CN283809

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      81081945..81096395 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433900.1XP_047289856.1  glycine cleavage system H protein, mitochondrial isoform X3

      UniProtKB/TrEMBL
      Q6QN92
    2. XM_017023136.3XP_016878625.1  glycine cleavage system H protein, mitochondrial isoform X1

      UniProtKB/TrEMBL
      Q53XL7
    3. XM_017023137.2XP_016878626.1  glycine cleavage system H protein, mitochondrial isoform X2

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791800.1 Reference GRCh38.p14 PATCHES

      Range
      130184..144634 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333193.1XP_054189168.1  glycine cleavage system H protein, mitochondrial isoform X3

      UniProtKB/TrEMBL
      Q6QN92
    2. XM_054333191.1XP_054189166.1  glycine cleavage system H protein, mitochondrial isoform X1

      UniProtKB/TrEMBL
      Q53XL7
    3. XM_054333192.1XP_054189167.1  glycine cleavage system H protein, mitochondrial isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      87143482..87157585 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380024.1XP_054235999.1  glycine cleavage system H protein, mitochondrial isoform X3

      UniProtKB/TrEMBL
      Q6QN92
    2. XM_054380022.1XP_054235997.1  glycine cleavage system H protein, mitochondrial isoform X1

      UniProtKB/TrEMBL
      Q53XL7
    3. XM_054380023.1XP_054235998.1  glycine cleavage system H protein, mitochondrial isoform X2