P23434 (GCSH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Glycine cleavage system H protein, mitochondrial

Gene names

Name:

GCSH

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	173 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	The glycine cleavage system catalyzes the degradation of glycine. The H protein shuttles the methylamine group of glycine from the P protein to the T protein.
Cofactor	Binds 1 lipoyl cofactor covalently.
Subunit structure	The glycine cleavage system is composed of four proteins: P, T, L and H.
Subcellular location	Mitochondrion.
Involvement in disease	Defects in GCSH are a cause of non-ketotic hyperglycinemia (NKH) [MIM:605899]; also known as glycine encephalopathy (GCE). NKH is an autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms.
Sequence similarities	Belongs to the GcvH family. Contains 1 lipoyl-binding domain.

Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Polymorphism
Domain	Lipoyl Transit peptide
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	glycine cleavage complex Traceable author statement. Source: ProtInc mitochondrion Traceable author statement. Source: ProtInc
Molecular function	aminomethyltransferase activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 48	48	Mitochondrion
	Chain	49 – 173	125	Glycine cleavage system H protein, mitochondrial		PRO_0000010723
Amino acid modifications
	Modified residue	107	1	N6-lipoyllysine
Natural variations
	Natural variant	21	1	S → L. Ref.1 Ref.2 Ref.3 Ref.5 Corresponds to variant rs8052579 [ dbSNP | Ensembl ].		VAR_018846
	Natural variant	73	1	N → S. Ref.3 Corresponds to variant rs8177877 [ dbSNP | Ensembl ].		VAR_018847

Sequences

	Sequence		Length	Mass (Da)
	P23434 [UniParc]. Last modified November 2, 2010. Version 2. Checksum: 3CC5D09D59C1243D	FASTA	173	18,885
	10 20 30 40 50 60 MALRVVRSVR ALLCTLRAVP SPAAPCPPRP WQLGVGAVRT LRTGPALLSV RKFTEKHEWV 70 80 90 100 110 120 TTENGIGTVG ISNFAQEALG DVVYCSLPEV GTKLNKQDEF GALESVKAAS ELYSPLSGEV 130 140 150 160 170 TEINEALAEN PGLVNKSCYE DGWLIKMTLS NPSELDELMS EEAYEKYIKS IEE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 1671321] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT LEU-21.
[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: 2025283] [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: 15616553] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-21. Tissue: Placenta and Skeletal muscle.
[6]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Web resources

GeneReviews

NIEHS-SNPs

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00011604.
PIR	GCHUH. A36662.
RefSeq	NP_004474.2. NM_004483.4.
UniGene	Hs.546256.
3D structure databases
ProteinModelPortal	P23434.
SMR	P23434. Positions 49-173.
ModBase	Search...
Protein-protein interaction databases
IntAct	P23434. 3 interactions.
MINT	MINT-1391441.
STRING	P23434.
PTM databases
PhosphoSite	P23434.
Polymorphism databases
DMDM	311033385.
Proteomic databases
PRIDE	P23434.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000315467; ENSP00000319531; ENSG00000140905.
GeneID	2653.
KEGG	hsa:2653.
Organism-specific databases
CTD	2653.
GeneCards	GC16M081115.
H-InvDB	HIX0013270. HIX0200292.
HGNC	HGNC:4208. GCSH.
HPA	HPA041368.
MIM	238330. gene. 605899. phenotype.
neXtProt	NX_P23434.
Orphanet	407. Isolated nonketotic hyperglycinemia.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG12196.
HOGENOM	HBG693789.
HOVERGEN	HBG001129.
InParanoid	P23434.
OMA	TSDHEWL.
OrthoDB	EOG43N7DX.
PhylomeDB	P23434.
Gene expression databases
CleanEx	HS_GCSH.
Genevestigator	P23434.
GermOnline	ENSG00000140905. Homo sapiens. ENSG00000187615. Homo sapiens.
Family and domain databases
InterPro	IPR003016. 2-oxoA_DH_lipoyl-BS. IPR002930. GCV_H. IPR017453. GCV_H_sub. IPR011053. Single_hybrid_motif. [Graphical view]
KO	K02437.
PANTHER	PTHR11715. GCV_H. 1 hit.
Pfam	PF01597. GCV_H. 1 hit. [Graphical view]
SUPFAM	SSF51230. Hybrid_motif. 1 hit.
TIGRFAMs	TIGR00527. GcvH. 1 hit.
PROSITE	PS00189. LIPOYL. 1 hit. [Graphical view]
ProtoNet	Search...
Other
DrugBank	DB00145. Glycine.
NextBio	10484.
SOURCE	Search...

Entry information

Entry name

GCSH_HUMAN

Accession

Primary (citable) accession number: P23434
Secondary accession number(s): Q9H1E9

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1991
Last sequence update:	November 2, 2010
Last modified:	January 25, 2012
This is version 129 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.