Details for: GCSH

Gene ID: 2653

Symbol: GCSH

Ensembl ID: ENSG00000140905

Description: glycine cleavage system protein H

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.28
    Marker Score: 8950
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 2.2
    Marker Score: 24827
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 2.1
    Marker Score: 4394
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.07
    Marker Score: 8927
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 2.05
    Marker Score: 7602
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.93
    Marker Score: 3196
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.91
    Marker Score: 2044
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.91
    Marker Score: 1272
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.87
    Marker Score: 6650
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.78
    Marker Score: 1671
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 1.78
    Marker Score: 945
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.77
    Marker Score: 1201
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.75
    Marker Score: 1964
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.73
    Marker Score: 1835
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.72
    Marker Score: 59482
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.69
    Marker Score: 2764
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 1.67
    Marker Score: 860
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.67
    Marker Score: 2830
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.59
    Marker Score: 6119.5
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 1.52
    Marker Score: 606
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.49
    Marker Score: 6080
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.45
    Marker Score: 340
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.41
    Marker Score: 18595.5
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.4
    Marker Score: 3416
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.4
    Marker Score: 469
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1.39
    Marker Score: 870
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.38
    Marker Score: 3284
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.33
    Marker Score: 1411
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.32
    Marker Score: 373
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.31
    Marker Score: 723
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.3
    Marker Score: 3484
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 1.26
    Marker Score: 1937
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.25
    Marker Score: 2936
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.24
    Marker Score: 1789
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.2
    Marker Score: 384
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 1.19
    Marker Score: 1655.5
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.18
    Marker Score: 2688
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.18
    Marker Score: 744.5
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.17
    Marker Score: 3053
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.17
    Marker Score: 1649
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.15
    Marker Score: 865
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 1.13
    Marker Score: 330
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 1.12
    Marker Score: 370
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.12
    Marker Score: 1795
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.11
    Marker Score: 647
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.1
    Marker Score: 318
  • Cell Name: theca cell (CL0000503)
    Fold Change: 1.1
    Marker Score: 789
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.1
    Marker Score: 353
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.1
    Marker Score: 1111
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.09
    Marker Score: 1606
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.09
    Marker Score: 690
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.07
    Marker Score: 1899
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.05
    Marker Score: 1971
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.05
    Marker Score: 2638
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251689
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1.03
    Marker Score: 1646
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 1.03
    Marker Score: 746
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.02
    Marker Score: 510
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 1.01
    Marker Score: 360
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.01
    Marker Score: 1261
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71709
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47932
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.98
    Marker Score: 1021
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30395
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.98
    Marker Score: 220
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.97
    Marker Score: 247
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.97
    Marker Score: 456
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.96
    Marker Score: 404
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.96
    Marker Score: 1038
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.96
    Marker Score: 32760.5
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.96
    Marker Score: 2175
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.96
    Marker Score: 7461
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 482
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5308
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 438
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.93
    Marker Score: 790
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.92
    Marker Score: 7920
  • Cell Name: tracheobronchial serous cell (CL0019001)
    Fold Change: 0.92
    Marker Score: 335.5
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.92
    Marker Score: 722
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2731
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.91
    Marker Score: 1851
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.9
    Marker Score: 177
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.89
    Marker Score: 440
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.89
    Marker Score: 312
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.88
    Marker Score: 202
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.88
    Marker Score: 500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.86
    Marker Score: 5239
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 308.5
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.85
    Marker Score: 907
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.85
    Marker Score: 504
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.84
    Marker Score: 753
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.84
    Marker Score: 4144.5
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.83
    Marker Score: 878
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.81
    Marker Score: 4251
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.81
    Marker Score: 304
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.8
    Marker Score: 571
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.8
    Marker Score: 6963
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.8
    Marker Score: 753
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.8
    Marker Score: 12509

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Other Information

**Key characteristics:** * GCSH is a protein with a molecular weight of approximately 130 kDa. * It is found in the mitochondria of eukaryotic cells. * It is a member of the glycine cleavage complex, a multi-subunit protein complex that is responsible for the initial cleavage of glycine. * It is also involved in the glycine degradation pathway, which is a complex process that involves the breakdown of glycine to produce energy and building blocks for other cellular processes. **Pathways and functions:** * The GCSH protein is involved in several important pathways, including: * Aminomethyltransferase activity: GCSH is a key enzyme in the formation of taurine, an essential metabolite for many cellular processes. * Cytoplasm: GCSH is present in the cytoplasm of eukaryotic cells, where it is involved in the metabolism of various substrates. * Glycine catabolic process: GCSH is one of the enzymes that catalyzes the cleavage of glycine to produce pyruvate and carbon dioxide. * Glycine degradation: GCSH is also involved in the degradation of glycine to produce pyruvate and carbon dioxide. * Glyoxylate metabolism: GCSH is involved in the metabolism of glycine and other substrates to produce pyruvate and carbon dioxide. **Clinical significance:** Mutations in the GCSH gene have been linked to several human diseases, including: * Glycine transporter deficiency: This genetic disorder is caused by mutations in the GGT1 gene, which is a protein that is required for the transport of glycine in the blood. People with GGT1 deficiency have high levels of glycine in their blood, which can lead to a variety of health problems. * Mitochondrial disorders: Mutations in the GCSH gene have also been linked to mitochondrial disorders, such as Leigh syndrome and lactic acidosis. In these disorders, GCSH is not able to function properly, which leads to the accumulation of glycine in the mitochondria and other tissues.

Genular Protein ID: 348651624

Symbol: GCSH_HUMAN

Name: Lipoic acid-containing protein

UniProtKB Accession Codes:

P23434 Q9H1E9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 EMBL 6 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1671321

Title: The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias.

PubMed ID: 1671321

PubMed ID: 2025283

Title: The primary structure of human H-protein of the glycine cleavage system deduced by cDNA cloning.

PubMed ID: 2025283

DOI: 10.1016/s0006-291x(05)80242-6

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 33890291

Title: Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.

PubMed ID: 33890291

DOI: 10.1111/cge.13970

PubMed ID: 36190515

Title: Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

PubMed ID: 36190515

DOI: 10.1093/hmg/ddac246

Sequence Information:

  • Length: 173
  • Mass: 18885
  • Checksum: 3CC5D09D59C1243D
  • Sequence:
    • MALRVVRSVR ALLCTLRAVP SPAAPCPPRP WQLGVGAVRT LRTGPALLSV RKFTEKHEWV 
TTENGIGTVG ISNFAQEALG DVVYCSLPEV GTKLNKQDEF GALESVKAAS ELYSPLSGEV 
TEINEALAEN PGLVNKSCYE DGWLIKMTLS NPSELDELMS EEAYEKYIKS IEE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.