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Protein

Glycine cleavage system H protein, mitochondrial

Gene

GCSH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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).

Cofactori

(R)-lipoateNote: Binds 1 lipoyl cofactor covalently.

GO - Molecular functioni

  1. aminomethyltransferase activity Source: ProtInc

GO - Biological processi

  1. glycine catabolic process Source: ProtInc
  2. glycine decarboxylation via glycine cleavage system Source: InterPro
Complete GO annotation...

Enzyme and pathway databases

BRENDAi1.4.4.2. 2681.
SABIO-RKP23434.

Names & Taxonomyi

Protein namesi
Recommended name:
Glycine cleavage system H protein, mitochondrial
Alternative name(s):
Lipoic acid-containing protein
Gene namesi
Name:GCSH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:4208. GCSH.

Subcellular locationi

GO - Cellular componenti

  1. glycine cleavage complex Source: ProtInc
  2. mitochondrion Source: ProtInc
Complete GO annotation...

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

MIMi605899. phenotype.
Orphaneti289863. Atypical glycine encephalopathy.
289860. Infantile glycine encephalopathy.
289857. Neonatal glycine encephalopathy.

Chemistry

DrugBankiDB00145. Glycine.

Polymorphism and mutation databases

BioMutaiGCSH.
DMDMi311033385.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 4848MitochondrionAdd
BLAST
Chaini49 – 173125Glycine cleavage system H protein, mitochondrialPRO_0000010723Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei107 – 1071N6-lipoyllysinePROSITE-ProRule annotation1 Publication

Proteomic databases

MaxQBiP23434.
PaxDbiP23434.
PRIDEiP23434.

PTM databases

PhosphoSiteiP23434.

Expressioni

Gene expression databases

BgeeiP23434.
CleanExiHS_GCSH.
ExpressionAtlasiP23434. baseline.
GenevestigatoriP23434.

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

Protein-protein interaction databases

BioGridi108923. 4 interactions.
IntActiP23434. 3 interactions.
MINTiMINT-1391441.
STRINGi9606.ENSP00000319531.

Structurei

3D structure databases

ProteinModelPortaliP23434.
SMRiP23434. Positions 49-173.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini66 – 14883Lipoyl-bindingPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the GcvH family.Curated
Contains 1 lipoyl-binding domain.PROSITE-ProRule annotationCurated

Keywords - Domaini

Lipoyl, Transit peptide

Phylogenomic databases

eggNOGiCOG0509.
GeneTreeiENSGT00390000011666.
HOGENOMiHOG000239392.
HOVERGENiHBG001129.
InParanoidiP23434.
KOiK02437.
OMAiDGWLFRI.
OrthoDBiEOG7RNK1M.
PhylomeDBiP23434.
TreeFamiTF300258.

Family and domain databases

HAMAPiMF_00272. GcvH.
InterProiIPR003016. 2-oxoA_DH_lipoyl-BS.
IPR002930. GCV_H.
IPR017453. GCV_H_sub.
IPR011053. Single_hybrid_motif.
[Graphical view]
PANTHERiPTHR11715. PTHR11715. 1 hit.
PfamiPF01597. GCV_H. 1 hit.
[Graphical view]
SUPFAMiSSF51230. SSF51230. 1 hit.
TIGRFAMsiTIGR00527. gcvH. 1 hit.
PROSITEiPS50968. BIOTINYL_LIPOYL. 1 hit.
PS00189. LIPOYL. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti21 – 211S → L.4 Publications
Corresponds to variant rs8052579 [ dbSNP | Ensembl ].
VAR_018846
Natural varianti73 – 731N → S.1 Publication
Corresponds to variant rs8177877 [ dbSNP | Ensembl ].
VAR_018847

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.3. human.

Polymorphism and mutation databases

BioMutaiGCSH.

Keywords - Coding sequence diversityi

Polymorphism

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. Positions 49-173.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108923. 4 interactions.
IntActiP23434. 3 interactions.
MINTiMINT-1391441.
STRINGi9606.ENSP00000319531.

Chemistry

DrugBankiDB00145. Glycine.

PTM databases

PhosphoSiteiP23434.

Polymorphism and mutation databases

BioMutaiGCSH.
DMDMi311033385.

Proteomic databases

MaxQBiP23434.
PaxDbiP23434.
PRIDEiP23434.

Protocols and materials databases

DNASUi2653.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000315467; ENSP00000319531; ENSG00000140905.
GeneIDi2653.
KEGGihsa:2653.
UCSCiuc002fgd.3. human.

Organism-specific databases

CTDi2653.
GeneCardsiGC16M081115.
GeneReviewsiGCSH.
H-InvDBHIX0013270.
HIX0028692.
HGNCiHGNC:4208. GCSH.
HPAiHPA041368.
MIMi238330. gene.
605899. phenotype.
neXtProtiNX_P23434.
Orphaneti289863. Atypical glycine encephalopathy.
289860. Infantile glycine encephalopathy.
289857. Neonatal glycine encephalopathy.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0509.
GeneTreeiENSGT00390000011666.
HOGENOMiHOG000239392.
HOVERGENiHBG001129.
InParanoidiP23434.
KOiK02437.
OMAiDGWLFRI.
OrthoDBiEOG7RNK1M.
PhylomeDBiP23434.
TreeFamiTF300258.

Enzyme and pathway databases

BRENDAi1.4.4.2. 2681.
SABIO-RKP23434.

Miscellaneous databases

GeneWikiiGCSH.
GenomeRNAii2653.
NextBioi10484.
PROiP23434.
SOURCEiSearch...

Gene expression databases

BgeeiP23434.
CleanExiHS_GCSH.
ExpressionAtlasiP23434. baseline.
GenevestigatoriP23434.

Family and domain databases

HAMAPiMF_00272. GcvH.
InterProiIPR003016. 2-oxoA_DH_lipoyl-BS.
IPR002930. GCV_H.
IPR017453. GCV_H_sub.
IPR011053. Single_hybrid_motif.
[Graphical view]
PANTHERiPTHR11715. PTHR11715. 1 hit.
PfamiPF01597. GCV_H. 1 hit.
[Graphical view]
SUPFAMiSSF51230. SSF51230. 1 hit.
TIGRFAMsiTIGR00527. gcvH. 1 hit.
PROSITEiPS50968. BIOTINYL_LIPOYL. 1 hit.
PS00189. LIPOYL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias."
    Koyata H., Hiraga K.
    Am. J. Hum. Genet. 48:351-361(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT LEU-21, LIPOYLATION AT LYS-107.
  2. "The primary structure of human H-protein of the glycine cleavage system deduced by cDNA cloning."
    Fujiwara K., Okamura-Ikeda K., Hayasaka K., Motokawa Y.
    Biochem. Biophys. Res. Commun. 176:711-716(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT LEU-21.
  3. NIEHS SNPs program
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS LEU-21 AND SER-73.
  4. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-21.
    Tissue: Placenta and Skeletal muscle.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

Entry informationi

Entry nameiGCSH_HUMAN
AccessioniPrimary (citable) accession number: P23434
Secondary accession number(s): Q9H1E9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: November 2, 2010
Last modified: April 29, 2015
This is version 162 of the entry and version 2 of the sequence. [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. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.