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

Gene ID: 2653, updated on 14-May-2016
Official Symbol
GCSHprovided by HGNC
Official Full Name
glycine cleavage system protein Hprovided by HGNC
Primary source
HGNC:HGNC:4208
See related
Ensembl:ENSG00000140905 HPRD:01998; MIM:238330; Vega:OTTHUMG00000137626
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]
Orthologs
Location:
16q23.2
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (81081947..81096375, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (81115552..81129980, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATM interactor Neighboring gene chromosome 16 open reading frame 46 Neighboring gene uncharacterized LOC105371361 Neighboring gene polycystin 1 like 2 (gene/pseudogene) Neighboring gene beta-carotene oxygenase 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aminomethyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
glycine catabolic process TAS
Traceable Author Statement
more info
PubMed 
glycine decarboxylation via glycine cleavage system IEA
Inferred from Electronic Annotation
more info
 
glyoxylate metabolic process TAS
Traceable Author Statement
more info
 
methylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
glycine cleavage complex IEA
Inferred from Electronic Annotation
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 
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

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_004483.4NP_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, OTTHUMP00000174971, ENST00000315467, OTTHUMT00000269049
    Conserved Domains (1) summary
    cd06848
    Location:53147
    GCS_H; Glycine cleavage H-protein. Glycine cleavage H-proteins are part of the glycine cleavage system (GCS) found in bacteria, archea and the mitochondria of eukaryotes. GCS is a multienzyme complex consisting of 4 different components (P-, H-, T- and ...

RNA

  1. NR_033249.1 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 Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    81081947..81096375 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    82526910..82541365 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)