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FLASH GENE

Symbol

GCSH

contributors: mct - updated : 07-12-2016

HGNC name	glycine cleavage system protein H (aminomethyl carrier)
HGNC id	4208

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GCE1 glycine encephalopathy 1
Location	16q23.2      Physical location : 81.115.551 - 81.129.980
Synonym symbol(s)	GCE, NKH
EC.number	2.1.2.10

DNA

TYPE	functioning gene
STRUCTURE	14.43 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

inconsistent : contradictory evidence

Map	see GAN GAN

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004483 5 - 1538 NP_004474 - 173 - 2011 21539457 - - polyA site 900 - - - 2011 21539457 upstream poly A site

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       lowly Endocrine pancreas       moderately Nervous brain       highly Reproductive male system prostate     moderately Respiratory lung       moderately Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terrminal mitochondrial target sequence (48aa)
	a lipoic acid binding site

mono polymer

complex

isoforms

Precursor

mature protein of 125AA

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,mitochondria,matrix

basic FUNCTION	amino methyl carrier
	transfer of methylamine group of glycine from P to T protein, catalyzing the second step of the glycine cleavage system
	its function is involved in the pathogenesis and diagnosis of glycine encephalopathy

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid

signaling

a component

glycine cleavage system complex

INTERACTION

DNA

RNA

small molecule

protein

plausible function of GCSH is to interact with the L-protein, which is also part of the l-ketoglutarate dehydrogenase complex present in fibroblasts

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GCE1

related resource

MITOP database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS