PHGDH | ENSG00000092621 | NCBI 26227

Details for: PHGDH

Gene ID: 26227

Symbol: PHGDH

Ensembl ID: ENSG00000092621

Description: phosphoglycerate dehydrogenase

Associated with

Metabolism
(R-HSA-1430728)
Metabolism of amino acids and derivatives
(R-HSA-71291)
Serine biosynthesis
(R-HSA-977347)
Brain development
(GO:0007420)
Cytosol
(GO:0005829)
Electron transfer activity
(GO:0009055)
Electron transport chain
(GO:0022900)
Extracellular exosome
(GO:0070062)
G1 to g0 transition
(GO:0070314)
Gamma-aminobutyric acid metabolic process
(GO:0009448)
Glial cell development
(GO:0021782)
Glutamine metabolic process
(GO:0006541)
Glycine metabolic process
(GO:0006544)
L-malate dehydrogenase activity
(GO:0030060)
L-serine biosynthetic process
(GO:0006564)
Nad binding
(GO:0051287)
Neural tube development
(GO:0021915)
Neuron projection development
(GO:0031175)
Phosphoglycerate dehydrogenase activity
(GO:0004617)
Regulation of gene expression
(GO:0010468)
Spinal cord development
(GO:0021510)
Taurine metabolic process
(GO:0019530)
Threonine metabolic process
(GO:0006566)

Other Information

Proteins

D-3-phosphoglycerate dehydrogenase

Genular Protein ID: 3790902606

Symbol: SERA_HUMAN

Name: D-3-phosphoglycerate dehydrogenase

UniProtKB Accession Codes:

O43175 B2RD08 Q5SZU3 Q9BQ01

Database IDs:

Citations:

PubMed ID: 10713460

Title: Nucleotide sequence and differential expression of the human 3-phosphoglycerate dehydrogenase gene.

PubMed ID: 10713460

DOI: 10.1016/s0378-1119(00)00009-3

PubMed ID: 11055895

Title: Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency -- a neurometabolic disorder associated with reduced L-serine biosynthesis.

PubMed ID: 11055895

DOI: 10.1086/316886

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 11751922

Title: V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.

PubMed ID: 11751922

DOI: 10.1074/jbc.m111419200

PubMed ID: 14654843

Title: Proteomic characterization of the human centrosome by protein correlation profiling.

PubMed ID: 14654843

DOI: 10.1038/nature02166

PubMed ID: 16949628

Title: Identification of novel proteins induced by estradiol, 4-hydroxytamoxifen and acolbifene in T47D breast cancer cells.

PubMed ID: 16949628

DOI: 10.1016/j.steroids.2006.07.006

PubMed ID: 18378410

Title: Positive regulation of promoter activity of human 3-phosphoglycerate dehydrogenase (PHGDH) gene is mediated by transcription factors Sp1 and NF-Y.

PubMed ID: 18378410

DOI: 10.1016/j.gene.2008.02.018

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

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: 25114211

Title: Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.

PubMed ID: 25114211

DOI: 10.1073/pnas.1413825111

PubMed ID: 25406093

Title: Human phosphoglycerate dehydrogenase produces the oncometabolite D-2-hydroxyglutarate.

PubMed ID: 25406093

DOI: 10.1021/cb500683c

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 19235232

Title: Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.

PubMed ID: 19235232

DOI: 10.1002/humu.20934

PubMed ID: 24836451

Title: Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.

PubMed ID: 24836451

DOI: 10.1016/j.ajhg.2014.04.015

Sequence Information:

Length: 533
Mass: 56651
Checksum: C58EB72275C45B35
Sequence:

MAFANLRKVL ISDSLDPCCR KILQDGGLQV VEKQNLSKEE LIAELQDCEG LIVRSATKVT 
ADVINAAEKL QVVGRAGTGV DNVDLEAATR KGILVMNTPN GNSLSAAELT CGMIMCLARQ 
IPQATASMKD GKWERKKFMG TELNGKTLGI LGLGRIGREV ATRMQSFGMK TIGYDPIISP 
EVSASFGVQQ LPLEEIWPLC DFITVHTPLL PSTTGLLNDN TFAQCKKGVR VVNCARGGIV 
DEGALLRALQ SGQCAGAALD VFTEEPPRDR ALVDHENVIS CPHLGASTKE AQSRCGEEIA 
VQFVDMVKGK SLTGVVNAQA LTSAFSPHTK PWIGLAEALG TLMRAWAGSP KGTIQVITQG 
TSLKNAGNCL SPAVIVGLLK EASKQADVNL VNAKLLVKEA GLNVTTSHSP AAPGEQGFGE 
CLLAVALAGA PYQAVGLVQG TTPVLQGLNG AVFRPEVPLR RDLPLLLFRT QTSDPAMLPT 
MIGLLAEAGV RLLSYQTSLV SDGETWHVMG ISSLLPSLEA WKQHVTEAFQ FHF

The gene details are incomplete or unavailable at the moment.

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: PHGDH

Associated with

Other Information

Nucleotide sequence and differential expression of the human 3-phosphoglycerate dehydrogenase gene. PubMed ID: 10713460

Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency -- a neurometabolic disorder associated with reduced L-serine biosynthesis. PubMed ID: 11055895

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence and biological annotation of human chromosome 1. PubMed ID: 16710414

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme. PubMed ID: 11751922

Proteomic characterization of the human centrosome by protein correlation profiling. PubMed ID: 14654843

Identification of novel proteins induced by estradiol, 4-hydroxytamoxifen and acolbifene in T47D breast cancer cells. PubMed ID: 16949628

Positive regulation of promoter activity of human 3-phosphoglycerate dehydrogenase (PHGDH) gene is mediated by transcription factors Sp1 and NF-Y. PubMed ID: 18378410

A quantitative atlas of mitotic phosphorylation. PubMed ID: 18669648

Initial characterization of the human central proteome. PubMed ID: 21269460

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli. PubMed ID: 25114211

Human phosphoglycerate dehydrogenase produces the oncometabolite D-2-hydroxyglutarate. PubMed ID: 25406093

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. PubMed ID: 19235232

Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. PubMed ID: 24836451