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

Gene ID: 2653, updated on 23-Nov-2021

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
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
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
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Genomic context

See GCSH in Genome Data Viewer
Location:
16q23.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (81081945..81096395, complement)
105.20201022 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 ATM interactor Neighboring gene chromosome 16 open reading frame 46 Neighboring gene uncharacterized LOC105371361 Neighboring gene RNA, U6 small nuclear 1191, pseudogene Neighboring gene polycystin 1 like 2 (gene/pseudogene) Neighboring gene Sharpr-MPRA regulatory region 3111

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

Homology

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
PubMed 
involved_in protein lipoylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 

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)

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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_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
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017023136.2XP_016878625.1  glycine cleavage system H protein, mitochondrial isoform X1

  2. XM_017023137.1XP_016878626.1  glycine cleavage system H protein, mitochondrial isoform X2

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