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P23434

- GCSH_HUMAN

UniProt

P23434 - GCSH_HUMAN

Protein

Glycine cleavage system H protein, mitochondrial

Gene

GCSH

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 155 (01 Oct 2014)
      Sequence version 2 (02 Nov 2010)
      Previous versions | rss
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    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

    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: Ensembl
    3. methylation Source: GOC

    Enzyme and pathway databases

    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: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:4208. GCSH.

    Subcellular locationi

    GO - Cellular componenti

    1. glycine cleavage complex Source: ProtInc
    2. mitochondrion Source: ProtInc

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Non-ketotic hyperglycinemia (NKH) [MIM:605899]: Autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms.
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

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

    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-lipoyllysine1 Publication

    Proteomic databases

    MaxQBiP23434.
    PaxDbiP23434.
    PRIDEiP23434.

    PTM databases

    PhosphoSiteiP23434.

    Expressioni

    Gene expression databases

    BgeeiP23434.
    CleanExiHS_GCSH.
    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. 3 interactions.
    IntActiP23434. 3 interactions.
    MINTiMINT-1391441.
    STRINGi9606.ENSP00000319531.

    Structurei

    3D structure databases

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

    Family & Domainsi

    Sequence similaritiesi

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

    Keywords - Domaini

    Lipoyl, Transit peptide

    Phylogenomic databases

    eggNOGiCOG0509.
    HOGENOMiHOG000239392.
    HOVERGENiHBG001129.
    InParanoidiP23434.
    KOiK02437.
    OMAiTQDHEWL.
    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.
    PROSITEiPS00189. 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

    MALRVVRSVR ALLCTLRAVP SPAAPCPPRP WQLGVGAVRT LRTGPALLSV    50
    RKFTEKHEWV TTENGIGTVG ISNFAQEALG DVVYCSLPEV GTKLNKQDEF 100
    GALESVKAAS ELYSPLSGEV TEINEALAEN PGLVNKSCYE DGWLIKMTLS 150
    NPSELDELMS EEAYEKYIKS IEE 173
    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:
    EMBL
    GenBank
    DDBJ
    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 databases

    DMDMi311033385.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS10933.1.
    PIRi A36662. GCHUH.
    RefSeqi NP_004474.2. NM_004483.4.
    UniGenei Hs.546256.

    3D structure databases

    ProteinModelPortali P23434.
    SMRi P23434. Positions 49-173.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108923. 3 interactions.
    IntActi P23434. 3 interactions.
    MINTi MINT-1391441.
    STRINGi 9606.ENSP00000319531.

    Chemistry

    DrugBanki DB00145. Glycine.

    PTM databases

    PhosphoSitei P23434.

    Polymorphism databases

    DMDMi 311033385.

    Proteomic databases

    MaxQBi P23434.
    PaxDbi P23434.
    PRIDEi P23434.

    Protocols and materials databases

    DNASUi 2653.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000315467 ; ENSP00000319531 ; ENSG00000140905 .
    GeneIDi 2653.
    KEGGi hsa:2653.
    UCSCi uc002fgd.3. human.

    Organism-specific databases

    CTDi 2653.
    GeneCardsi GC16M081115.
    GeneReviewsi GCSH.
    H-InvDB HIX0013270.
    HIX0028692.
    HGNCi HGNC:4208. GCSH.
    HPAi HPA041368.
    MIMi 238330. gene.
    605899. phenotype.
    neXtProti NX_P23434.
    Orphaneti 289863. Atypical glycine encephalopathy.
    289860. Infantile glycine encephalopathy.
    289857. Neonatal glycine encephalopathy.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0509.
    HOGENOMi HOG000239392.
    HOVERGENi HBG001129.
    InParanoidi P23434.
    KOi K02437.
    OMAi TQDHEWL.
    OrthoDBi EOG7RNK1M.
    PhylomeDBi P23434.
    TreeFami TF300258.

    Enzyme and pathway databases

    SABIO-RK P23434.

    Miscellaneous databases

    GeneWikii GCSH.
    GenomeRNAii 2653.
    NextBioi 10484.
    PROi P23434.
    SOURCEi Search...

    Gene expression databases

    Bgeei P23434.
    CleanExi HS_GCSH.
    Genevestigatori P23434.

    Family and domain databases

    HAMAPi MF_00272. GcvH.
    InterProi IPR003016. 2-oxoA_DH_lipoyl-BS.
    IPR002930. GCV_H.
    IPR017453. GCV_H_sub.
    IPR011053. Single_hybrid_motif.
    [Graphical view ]
    PANTHERi PTHR11715. PTHR11715. 1 hit.
    Pfami PF01597. GCV_H. 1 hit.
    [Graphical view ]
    SUPFAMi SSF51230. SSF51230. 1 hit.
    TIGRFAMsi TIGR00527. gcvH. 1 hit.
    PROSITEi PS00189. LIPOYL. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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].

    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: October 1, 2014
    This is version 155 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