Details for: PSAT1

Gene ID: 29968

Symbol: PSAT1

Ensembl ID: ENSG00000135069

Description: phosphoserine aminotransferase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 153.5245
    Cell Significance Index: -23.8800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 95.4490
    Cell Significance Index: -24.2100
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 57.3859
    Cell Significance Index: -23.6400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 19.5790
    Cell Significance Index: -24.1400
  • Cell Name: colon endothelial cell (CL1001572)
    Fold Change: 9.1455
    Cell Significance Index: 6.9800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.1196
    Cell Significance Index: -24.4300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 2.2310
    Cell Significance Index: 260.0000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.7928
    Cell Significance Index: 24.4600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.6586
    Cell Significance Index: 75.1800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.5197
    Cell Significance Index: 289.2000
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.3961
    Cell Significance Index: 17.8800
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.1275
    Cell Significance Index: 16.0500
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.9879
    Cell Significance Index: 10.7400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.9347
    Cell Significance Index: 92.4600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.9000
    Cell Significance Index: 178.6000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.8384
    Cell Significance Index: 17.5500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.7955
    Cell Significance Index: 434.4600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7200
    Cell Significance Index: 650.0700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5212
    Cell Significance Index: 56.6900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5120
    Cell Significance Index: 83.2800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5010
    Cell Significance Index: 221.4900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.4813
    Cell Significance Index: 82.1800
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.4812
    Cell Significance Index: 3.9800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.4475
    Cell Significance Index: 15.5500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.3856
    Cell Significance Index: 27.2700
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 0.3744
    Cell Significance Index: 5.2400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2938
    Cell Significance Index: 8.2100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2804
    Cell Significance Index: 50.5500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2474
    Cell Significance Index: 17.1100
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.2364
    Cell Significance Index: 3.5900
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.2305
    Cell Significance Index: 1.8400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2300
    Cell Significance Index: 46.1400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2297
    Cell Significance Index: 11.9300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1873
    Cell Significance Index: 67.1800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1082
    Cell Significance Index: 13.3000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0910
    Cell Significance Index: 10.3900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0618
    Cell Significance Index: 38.5800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0524
    Cell Significance Index: 1.5100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0399
    Cell Significance Index: 4.7100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0390
    Cell Significance Index: 1.3700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0322
    Cell Significance Index: 20.4600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0318
    Cell Significance Index: 24.0600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0304
    Cell Significance Index: 0.7600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0298
    Cell Significance Index: 54.8700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0153
    Cell Significance Index: 28.7300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0094
    Cell Significance Index: 0.2500
  • Cell Name: glioblast (CL0000030)
    Fold Change: 0.0032
    Cell Significance Index: 0.0200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0004
    Cell Significance Index: 0.5700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0034
    Cell Significance Index: -2.5300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0142
    Cell Significance Index: -8.0000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0170
    Cell Significance Index: -12.4400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0256
    Cell Significance Index: -34.7600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0289
    Cell Significance Index: -19.9700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0346
    Cell Significance Index: -0.7500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0483
    Cell Significance Index: -1.2700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0571
    Cell Significance Index: -25.9300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0572
    Cell Significance Index: -16.4700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0633
    Cell Significance Index: -1.0600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0654
    Cell Significance Index: -13.7900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0866
    Cell Significance Index: -2.5500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0866
    Cell Significance Index: -5.3200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0959
    Cell Significance Index: -9.8000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1097
    Cell Significance Index: -15.9500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1267
    Cell Significance Index: -17.4000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1427
    Cell Significance Index: -8.0100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1492
    Cell Significance Index: -19.2800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1509
    Cell Significance Index: -17.2900
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1621
    Cell Significance Index: -2.8000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1692
    Cell Significance Index: -5.4200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.1891
    Cell Significance Index: -3.1900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1949
    Cell Significance Index: -9.1600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2286
    Cell Significance Index: -23.8000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2299
    Cell Significance Index: -18.2100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2532
    Cell Significance Index: -17.0200
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.2730
    Cell Significance Index: -1.6200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2737
    Cell Significance Index: -17.6600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2949
    Cell Significance Index: -6.2800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3054
    Cell Significance Index: -14.2400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3157
    Cell Significance Index: -16.5800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3235
    Cell Significance Index: -24.1100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3395
    Cell Significance Index: -26.0600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3756
    Cell Significance Index: -11.0300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.3769
    Cell Significance Index: -9.4000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3785
    Cell Significance Index: -16.7400
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.3810
    Cell Significance Index: -5.3400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4179
    Cell Significance Index: -25.6200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.4372
    Cell Significance Index: -11.7200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.4558
    Cell Significance Index: -28.7300
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.4578
    Cell Significance Index: -7.7000
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.4788
    Cell Significance Index: -7.8900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4806
    Cell Significance Index: -18.2000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4936
    Cell Significance Index: -14.0900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.5251
    Cell Significance Index: -7.7500
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.5258
    Cell Significance Index: -7.3800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5480
    Cell Significance Index: -17.9400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5484
    Cell Significance Index: -19.2100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5490
    Cell Significance Index: -17.4900
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -0.5766
    Cell Significance Index: -1.3000
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.5808
    Cell Significance Index: -4.4400
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.5830
    Cell Significance Index: -13.4700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Serine biosynthesis**: PSAT1 is a key enzyme in the serine biosynthetic pathway, which is essential for the production of serine, a non-essential amino acid. 2. **Phosphoserine transferase activity**: The PSAT1 protein exhibits phosphoserine transferase activity, transferring phosphoserine groups to hydroxylated amino acids, such as threonine and hydroxylysine. 3. **Cellular localization**: PSAT1 is expressed in various cell types, including germ cells, astrocytes, and Leydig cells, suggesting its involvement in different cellular processes. 4. **Protein binding**: PSAT1 interacts with pyridoxal phosphate, a coenzyme involved in amino acid metabolism, and other proteins, such as SERC_HUMAN. **Pathways and Functions:** 1. **Serine biosynthesis**: PSAT1 plays a crucial role in the serine biosynthetic pathway, which is essential for various cellular processes, including protein synthesis, cell signaling, and metabolism. 2. **Amino acid metabolism**: PSAT1 is involved in the transfer of phosphoserine groups to hydroxylated amino acids, influencing amino acid metabolism and protein function. 3. **Cell signaling**: The PSAT1 protein may participate in cell signaling pathways, such as the regulation of gene expression and cellular differentiation. 4. **Metabolism**: PSAT1 is also involved in the metabolism of other amino acids, such as threonine and hydroxylysine, which are essential for various cellular processes. **Clinical Significance:** 1. **Serine deficiency**: A deficiency in PSAT1 has been linked to serine deficiency disorders, which can cause a range of symptoms, including muscle weakness, fatigue, and developmental delays. 2. **Amino acid metabolism disorders**: PSAT1 dysfunction may contribute to amino acid metabolism disorders, such as hyperammonemia and hyperglycinemia. 3. **Neurological disorders**: The PSAT1 protein may play a role in neurological disorders, such as Alzheimer's disease and Parkinson's disease, which are characterized by impaired amino acid metabolism and protein function. 4. **Cancer research**: PSAT1 has been identified as a potential target for cancer therapy, as its dysregulation has been linked to cancer development and progression. In conclusion, the PSAT1 gene is a novel player in the serine biosynthetic pathway, with implications for various cellular processes, including amino acid metabolism, cell signaling, and metabolism. Further research is needed to fully elucidate the role of PSAT1 in human health and disease, and to explore its potential as a therapeutic target for various disorders.

Genular Protein ID: 3411604126

Symbol: SERC_HUMAN

Name: Phosphohydroxythreonine aminotransferase

UniProtKB Accession Codes:

Q9Y617 Q5T7G5 Q5T7G6 Q96AW2 Q9BQ12

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CPTAC 3 CPTC 1 CTD 1 ChEBI 18 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EC 1 EMBL 10 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 8 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 2 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 12633500

Title: Characterization of human phosphoserine aminotransferase involved in the phosphorylated pathway of L-serine biosynthesis.

PubMed ID: 12633500

DOI: 10.1042/bj20030144

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

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: 14654843

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

PubMed ID: 14654843

DOI: 10.1038/nature02166

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

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: 36851825

Title: L-serine biosynthesis in the human central nervous system: Structure and function of phosphoserine aminotransferase.

PubMed ID: 36851825

DOI: 10.1002/pro.4609

PubMed ID: 17436247

Title: Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.

PubMed ID: 17436247

DOI: 10.1086/517888

PubMed ID: 25152457

Title: Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

PubMed ID: 25152457

DOI: 10.1016/j.ajhg.2014.07.012

PubMed ID: 31903955

Title: Novel and recurrent PHGDH and PSAT1 mutations in Chinese patients with Neu-Laxova syndrome.

PubMed ID: 31903955

DOI: 10.1684/ejd.2019.3673

PubMed ID: 32579715

Title: Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.

PubMed ID: 32579715

DOI: 10.1002/humu.24067

PubMed ID: 37627284

Title: Phosphoserine aminotransferase pathogenetic variants in serine deficiency disorders: A functional characterization.

PubMed ID: 37627284

DOI: 10.3390/biom13081219

Sequence Information:

  • Length: 370
  • Mass: 40423
  • Checksum: BAF9A10E71B165B4
  • Sequence:
    • MDAPRQVVNF GPGPAKLPHS VLLEIQKELL DYKGVGISVL EMSHRSSDFA KIINNTENLV 
RELLAVPDNY KVIFLQGGGC GQFSAVPLNL IGLKAGRCAD YVVTGAWSAK AAEEAKKFGT 
INIVHPKLGS YTKIPDPSTW NLNPDASYVY YCANETVHGV EFDFIPDVKG AVLVCDMSSN 
FLSKPVDVSK FGVIFAGAQK NVGSAGVTVV IVRDDLLGFA LRECPSVLEY KVQAGNSSLY 
NTPPCFSIYV MGLVLEWIKN NGGAAAMEKL SSIKSQTIYE IIDNSQGFYV CPVEPQNRSK 
MNIPFRIGNA KGDDALEKRF LDKALELNML SLKGHRSVGG IRASLYNAVT IEDVQKLAAF 
MKKFLEMHQL

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.