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

Gene ID: 68133, updated on 2-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
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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 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)

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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.

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)