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    Gcsh glycine cleavage system protein H (aminomethyl carrier) [ Mus musculus (house mouse) ]

    Gene ID: 68133, updated on 27-Nov-2024

    Summary

    Official Symbol
    Gcshprovided by MGI
    Official Full Name
    glycine cleavage system protein H (aminomethyl carrier)provided by MGI
    Primary source
    MGI:MGI:1915383
    See related
    Ensembl:ENSMUSG00000034424 AllianceGenome:MGI:1915383
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1100001L02Rik; 5730591C18Rik
    Summary
    Predicted to enable aminomethyltransferase activity and enzyme binding activity. Predicted to be involved in glycine decarboxylation via glycine cleavage system and protein lipoylation. Located in mitochondrion. Is expressed in several structures, including alimentary system; integumental system; metanephros; nervous system; and respiratory system. Human ortholog(s) of this gene implicated in multiple mitochondrial dysfunctions syndrome. Orthologous to human GCSH (glycine cleavage system protein H). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 73.9), kidney adult (RPKM 41.7) and 27 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Gcsh in Genome Data Viewer
    Location:
    8 E1; 8 63.43 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (117708706..117720237, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (116981967..116993498, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene C-X9-C motif containing 2 Neighboring gene ATM interactor Neighboring gene RIKEN cDNA 1700030J22 gene Neighboring gene STARR-positive B cell enhancer ABC_E2878 Neighboring gene STARR-positive B cell enhancer ABC_E6691 Neighboring gene STARR-positive B cell enhancer ABC_E3808 Neighboring gene STARR-seq mESC enhancer starr_22806 Neighboring gene polycystic kidney disease 1 like 2 Neighboring gene predicted gene, 31519 Neighboring gene predicted gene 15395

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    Pathways from PubChem

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables aminomethyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in glycine decarboxylation via glycine cleavage system IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glycine decarboxylation via glycine cleavage system IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein lipoylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein lipoylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of glycine cleavage complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of glycine cleavage complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion HDA PubMed 
    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
    lipoic acid-containing 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.

    mRNA and Protein(s)

    1. NM_026572.4NP_080848.1  glycine cleavage system H protein, mitochondrial precursor

      See identical proteins and their annotated locations for NP_080848.1

      Status: VALIDATED

      Source sequence(s)
      AC162858
      Consensus CDS
      CCDS22696.1
      UniProtKB/Swiss-Prot
      Q91WK5, Q9CY75, Q9D197
      Related
      ENSMUSP00000037131.6, ENSMUST00000040484.6
      Conserved Domains (1) summary
      PRK01202
      Location:48167
      PRK01202; glycine cleavage system protein H; Provisional

    RNA

    1. NR_157137.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA051112, AK003788, BF466715, CJ207095, CX242613

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      117708706..117720237 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)