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Protein

Glycine cleavage system H protein, mitochondrial

Gene

GCSH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

The glycine cleavage system catalyzes the degradation of glycine. The H protein (GCSH) shuttles the methylamine group of glycine from the P protein (GLDC) to the T protein (GCST).1 Publication

Cofactori

(R)-lipoate1 PublicationNote: Binds 1 lipoyl cofactor covalently.1 Publication

GO - Molecular functioni

  • aminomethyltransferase activity Source: ProtInc

GO - Biological processi

Enzyme and pathway databases

BioCyciMetaCyc:HS06771-MONOMER
BRENDAi1.4.4.2 2681
ReactomeiR-HSA-389661 Glyoxylate metabolism and glycine degradation
R-HSA-6783984 Glycine degradation
SABIO-RKiP23434

Names & Taxonomyi

Protein namesi
Recommended name:
Glycine cleavage system H protein, mitochondrial1 Publication
Alternative name(s):
Lipoic acid-containing protein
Gene namesi
Name:GCSHImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000140905.9
HGNCiHGNC:4208 GCSH
MIMi238330 gene
neXtProtiNX_P23434

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Non-ketotic hyperglycinemia (NKH)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms.
See also OMIM:605899

Organism-specific databases

DisGeNETi2653
GeneReviewsiGCSH
MalaCardsiGCSH
MIMi605899 phenotype
OpenTargetsiENSG00000140905
Orphaneti289863 Atypical glycine encephalopathy
289860 Infantile glycine encephalopathy
289857 Neonatal glycine encephalopathy

Chemistry databases

DrugBankiDB03187 6-(Hydroxyethyldithio)-8-(Aminomethylthio)Octanoic Acid
DB03760 Dihydrolipoic Acid
DB00145 Glycine

Polymorphism and mutation databases

BioMutaiGCSH
DMDMi311033385

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 48MitochondrionAdd BLAST48
ChainiPRO_000001072349 – 173Glycine cleavage system H protein, mitochondrialAdd BLAST125

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei107N6-lipoyllysinePROSITE-ProRule annotation1 Publication1

Proteomic databases

EPDiP23434
MaxQBiP23434
PaxDbiP23434
PeptideAtlasiP23434
PRIDEiP23434
ProteomicsDBi54093
TopDownProteomicsiP23434

PTM databases

iPTMnetiP23434
PhosphoSitePlusiP23434

Expressioni

Gene expression databases

BgeeiENSG00000140905 Expressed in 92 organ(s), highest expression level in frontal cortex
CleanExiHS_GCSH
ExpressionAtlasiP23434 baseline and differential
GenevisibleiP23434 HS

Organism-specific databases

HPAiHPA041368

Interactioni

Subunit structurei

Interacts with GLDC (By similarity). The glycine cleavage system is composed of four proteins: P (GLDC), T (GCST), L (DLD) and H (GCSH).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
NMIQ132873EBI-715444,EBI-372942

Protein-protein interaction databases

BioGridi108923, 11 interactors
IntActiP23434, 10 interactors
STRINGi9606.ENSP00000319531

Structurei

3D structure databases

ProteinModelPortaliP23434
SMRiP23434
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini66 – 148Lipoyl-bindingPROSITE-ProRule annotationAdd BLAST83

Sequence similaritiesi

Belongs to the GcvH family.Curated

Keywords - Domaini

Lipoyl, Transit peptide

Phylogenomic databases

eggNOGiKOG3373 Eukaryota
COG0509 LUCA
GeneTreeiENSGT00390000011666
HOGENOMiHOG000239392
HOVERGENiHBG001129
InParanoidiP23434
KOiK02437
OMAiIVYVEVE
OrthoDBiEOG091G14BI
PhylomeDBiP23434
TreeFamiTF300258

Family and domain databases

CDDicd06848 GCS_H, 1 hit
HAMAPiMF_00272 GcvH, 1 hit
InterProiView protein in InterPro
IPR003016 2-oxoA_DH_lipoyl-BS
IPR000089 Biotin_lipoyl
IPR002930 GCV_H
IPR033753 GCV_H/Fam206
IPR017453 GCV_H_sub
IPR011053 Single_hybrid_motif
PANTHERiPTHR11715 PTHR11715, 1 hit
PfamiView protein in Pfam
PF01597 GCV_H, 1 hit
SUPFAMiSSF51230 SSF51230, 1 hit
TIGRFAMsiTIGR00527 gcvH, 1 hit
PROSITEiView protein in PROSITE
PS50968 BIOTINYL_LIPOYL, 1 hit
PS00189 LIPOYL, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All

P23434-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MALRVVRSVR ALLCTLRAVP SPAAPCPPRP WQLGVGAVRT LRTGPALLSV
60 70 80 90 100
RKFTEKHEWV TTENGIGTVG ISNFAQEALG DVVYCSLPEV GTKLNKQDEF
110 120 130 140 150
GALESVKAAS ELYSPLSGEV TEINEALAEN PGLVNKSCYE DGWLIKMTLS
160 170
NPSELDELMS EEAYEKYIKS IEE
Length:173
Mass (Da):18,885
Last modified:November 2, 2010 - v2
Checksum:i3CC5D09D59C1243D
GO

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PNX3A0A1W2PNX3_HUMAN
Glycine cleavage system H protein
GCSH
162Annotation score:
H3BNV1H3BNV1_HUMAN
Glycine cleavage system H protein
GCSH
105Annotation score:
H3BUG8H3BUG8_HUMAN
Glycine cleavage system H protein, ...
GCSH
80Annotation score:
H3BUH9H3BUH9_HUMAN
Glycine cleavage system H protein, ...
GCSH
118Annotation score:
H3BQ30H3BQ30_HUMAN
Glycine cleavage system H protein, ...
GCSH
66Annotation score:
A0A1W2PQV2A0A1W2PQV2_HUMAN
Glycine cleavage system H protein, ...
GCSH
100Annotation score:
H3BPF0H3BPF0_HUMAN
Glycine cleavage system H protein, ...
GCSH
50Annotation score:
A0A1W2PQX3A0A1W2PQX3_HUMAN
Glycine cleavage system H protein, ...
GCSH
58Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01884621S → L4 PublicationsCorresponds to variant dbSNP:rs8052579Ensembl.1
Natural variantiVAR_01884773N → S1 PublicationCorresponds to variant dbSNP:rs8177877EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D00723 mRNA Translation: BAA00625.1
M69175 mRNA Translation: AAA36011.1
AY310735 Genomic DNA Translation: AAP50260.1
AC092718 Genomic DNA No translation available.
BC000790 mRNA Translation: AAH00790.1
BC020922 mRNA Translation: AAH20922.1
CCDSiCCDS10933.1
PIRiA36662 GCHUH
RefSeqiNP_004474.2, NM_004483.4
UniGeneiHs.546256

Genome annotation databases

EnsembliENST00000315467; ENSP00000319531; ENSG00000140905
GeneIDi2653
KEGGihsa:2653
UCSCiuc002fgd.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D00723 mRNA Translation: BAA00625.1
M69175 mRNA Translation: AAA36011.1
AY310735 Genomic DNA Translation: AAP50260.1
AC092718 Genomic DNA No translation available.
BC000790 mRNA Translation: AAH00790.1
BC020922 mRNA Translation: AAH20922.1
CCDSiCCDS10933.1
PIRiA36662 GCHUH
RefSeqiNP_004474.2, NM_004483.4
UniGeneiHs.546256

3D structure databases

ProteinModelPortaliP23434
SMRiP23434
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108923, 11 interactors
IntActiP23434, 10 interactors
STRINGi9606.ENSP00000319531

Chemistry databases

DrugBankiDB03187 6-(Hydroxyethyldithio)-8-(Aminomethylthio)Octanoic Acid
DB03760 Dihydrolipoic Acid
DB00145 Glycine

PTM databases

iPTMnetiP23434
PhosphoSitePlusiP23434

Polymorphism and mutation databases

BioMutaiGCSH
DMDMi311033385

Proteomic databases

EPDiP23434
MaxQBiP23434
PaxDbiP23434
PeptideAtlasiP23434
PRIDEiP23434
ProteomicsDBi54093
TopDownProteomicsiP23434

Protocols and materials databases

DNASUi2653
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000315467; ENSP00000319531; ENSG00000140905
GeneIDi2653
KEGGihsa:2653
UCSCiuc002fgd.4 human

Organism-specific databases

CTDi2653
DisGeNETi2653
EuPathDBiHostDB:ENSG00000140905.9
GeneCardsiGCSH
GeneReviewsiGCSH
H-InvDBiHIX0013270
HIX0028692
HGNCiHGNC:4208 GCSH
HPAiHPA041368
MalaCardsiGCSH
MIMi238330 gene
605899 phenotype
neXtProtiNX_P23434
OpenTargetsiENSG00000140905
Orphaneti289863 Atypical glycine encephalopathy
289860 Infantile glycine encephalopathy
289857 Neonatal glycine encephalopathy
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3373 Eukaryota
COG0509 LUCA
GeneTreeiENSGT00390000011666
HOGENOMiHOG000239392
HOVERGENiHBG001129
InParanoidiP23434
KOiK02437
OMAiIVYVEVE
OrthoDBiEOG091G14BI
PhylomeDBiP23434
TreeFamiTF300258

Enzyme and pathway databases

BioCyciMetaCyc:HS06771-MONOMER
BRENDAi1.4.4.2 2681
ReactomeiR-HSA-389661 Glyoxylate metabolism and glycine degradation
R-HSA-6783984 Glycine degradation
SABIO-RKiP23434

Miscellaneous databases

GeneWikiiGCSH
GenomeRNAii2653
PROiPR:P23434
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000140905 Expressed in 92 organ(s), highest expression level in frontal cortex
CleanExiHS_GCSH
ExpressionAtlasiP23434 baseline and differential
GenevisibleiP23434 HS

Family and domain databases

CDDicd06848 GCS_H, 1 hit
HAMAPiMF_00272 GcvH, 1 hit
InterProiView protein in InterPro
IPR003016 2-oxoA_DH_lipoyl-BS
IPR000089 Biotin_lipoyl
IPR002930 GCV_H
IPR033753 GCV_H/Fam206
IPR017453 GCV_H_sub
IPR011053 Single_hybrid_motif
PANTHERiPTHR11715 PTHR11715, 1 hit
PfamiView protein in Pfam
PF01597 GCV_H, 1 hit
SUPFAMiSSF51230 SSF51230, 1 hit
TIGRFAMsiTIGR00527 gcvH, 1 hit
PROSITEiView protein in PROSITE
PS50968 BIOTINYL_LIPOYL, 1 hit
PS00189 LIPOYL, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGCSH_HUMAN
AccessioniPrimary (citable) accession number: P23434
Secondary accession number(s): Q9H1E9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: November 2, 2010
Last modified: September 12, 2018
This is version 189 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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