Details for: PHYH

Gene ID: 5264

Symbol: PHYH

Ensembl ID: ENSG00000107537

Description: phytanoyl-CoA 2-hydroxylase

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: 171.3328
    Cell Significance Index: -26.6500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 95.6067
    Cell Significance Index: -24.2500
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 61.5612
    Cell Significance Index: -25.3600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 58.9677
    Cell Significance Index: -27.8400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 55.9498
    Cell Significance Index: -22.7300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 23.8808
    Cell Significance Index: -22.8000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 22.3528
    Cell Significance Index: -27.5600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.5465
    Cell Significance Index: -22.9000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.0628
    Cell Significance Index: -27.8700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.4204
    Cell Significance Index: -19.7200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.6482
    Cell Significance Index: 70.9600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.6984
    Cell Significance Index: 197.9300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.4756
    Cell Significance Index: 239.9900
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 1.3711
    Cell Significance Index: 5.2500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.2412
    Cell Significance Index: 26.8900
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.1641
    Cell Significance Index: 19.5800
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 1.1163
    Cell Significance Index: 11.8600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8965
    Cell Significance Index: 40.6400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7470
    Cell Significance Index: 148.2400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.7469
    Cell Significance Index: 102.5700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.7275
    Cell Significance Index: 50.3100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6466
    Cell Significance Index: 583.8500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.6391
    Cell Significance Index: 33.2000
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.6163
    Cell Significance Index: 4.7500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5602
    Cell Significance Index: 100.9800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.5412
    Cell Significance Index: 14.7300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.4979
    Cell Significance Index: 4.5900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4946
    Cell Significance Index: 60.8200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.4789
    Cell Significance Index: 30.9000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.4348
    Cell Significance Index: 55.7400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3996
    Cell Significance Index: 18.6300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.3114
    Cell Significance Index: 16.3500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2702
    Cell Significance Index: 186.8600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2699
    Cell Significance Index: 54.1400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2418
    Cell Significance Index: 15.2400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2121
    Cell Significance Index: 115.8400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.2042
    Cell Significance Index: 6.5400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2033
    Cell Significance Index: 14.3800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1895
    Cell Significance Index: 36.0700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1859
    Cell Significance Index: 18.3900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1620
    Cell Significance Index: 71.6400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1424
    Cell Significance Index: 3.7500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1065
    Cell Significance Index: 2.2300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0992
    Cell Significance Index: 3.4900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.0988
    Cell Significance Index: 2.4100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0956
    Cell Significance Index: 2.3900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0908
    Cell Significance Index: 1.5200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0738
    Cell Significance Index: 0.8800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0638
    Cell Significance Index: 4.9000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0531
    Cell Significance Index: 3.9600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0478
    Cell Significance Index: 8.1700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0423
    Cell Significance Index: 31.0200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0387
    Cell Significance Index: 5.0000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0154
    Cell Significance Index: 0.4100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0120
    Cell Significance Index: 22.5100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0055
    Cell Significance Index: 3.4900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.0051
    Cell Significance Index: 0.4000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0007
    Cell Significance Index: 0.0400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0022
    Cell Significance Index: -3.3500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0032
    Cell Significance Index: -5.9500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0080
    Cell Significance Index: -2.8700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0083
    Cell Significance Index: -6.3100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0101
    Cell Significance Index: -4.5700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0129
    Cell Significance Index: -1.3200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0141
    Cell Significance Index: -19.2400
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.0310
    Cell Significance Index: -0.5000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0311
    Cell Significance Index: -23.0300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0424
    Cell Significance Index: -23.9300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0500
    Cell Significance Index: -31.2500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0610
    Cell Significance Index: -1.3000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0709
    Cell Significance Index: -20.4100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1017
    Cell Significance Index: -14.7800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1050
    Cell Significance Index: -3.0300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.1122
    Cell Significance Index: -1.8900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1357
    Cell Significance Index: -15.5500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1389
    Cell Significance Index: -29.2500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1567
    Cell Significance Index: -18.4800
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1790
    Cell Significance Index: -1.4600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1836
    Cell Significance Index: -9.5700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1903
    Cell Significance Index: -5.0900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2315
    Cell Significance Index: -14.2300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2375
    Cell Significance Index: -12.0000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2405
    Cell Significance Index: -6.7200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2522
    Cell Significance Index: -15.4600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2530
    Cell Significance Index: -26.3400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2734
    Cell Significance Index: -8.0300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.2812
    Cell Significance Index: -4.1500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2902
    Cell Significance Index: -7.4600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3174
    Cell Significance Index: -11.0300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3218
    Cell Significance Index: -6.2800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3249
    Cell Significance Index: -18.2300
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.3264
    Cell Significance Index: -4.1800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.3637
    Cell Significance Index: -5.3700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3855
    Cell Significance Index: -25.9200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3904
    Cell Significance Index: -11.1900
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.4159
    Cell Significance Index: -4.7300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4398
    Cell Significance Index: -6.0000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4488
    Cell Significance Index: -13.2200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.4528
    Cell Significance Index: -7.7600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4697
    Cell Significance Index: -12.0000

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. **Enzyme Activity:** PHYH is involved in the 2-hydroxylation of phytanoyl-CoA, a key step in the catabolism of phytate. 2. **Peroxisomal Localization:** The enzyme is specifically localized to the peroxisome, where it plays a crucial role in the breakdown of fatty acids and other lipids. 3. **Widespread Expression:** PHYH is expressed in various tissues, including the kidney, placenta, liver, and epithelial cells. 4. **Significant Cellular Expression:** The enzyme is significantly expressed in cells involved in lipid metabolism, such as enterocytes, epithelial cells of the proximal tubule, and alveolar macrophages. **Pathways and Functions:** 1. **Alpha-Oxidation of Phytate:** PHYH is involved in the alpha-oxidation of phytate, a process that breaks down the polyphosphate compound into smaller units. 2. **Fatty Acid Alpha-Oxidation:** The enzyme is also involved in the alpha-oxidation of fatty acids, a process that breaks down fatty acids into shorter-chain fatty acids. 3. **Peroxisomal Lipid Metabolism:** PHYH plays a crucial role in the metabolism of lipids within the peroxisome, where it is involved in the breakdown of fatty acids and other lipids. 4. **Metabolic Pathways:** The enzyme is also involved in other metabolic pathways, including the 2-oxobutyrate catabolic process, 2-oxoglutarate metabolic process, and the metabolism of isoprenoids. **Clinical Significance:** 1. **Phytate Intolerance:** Mutations in the PHYH gene have been associated with phytate intolerance, a condition characterized by impaired phytate catabolism. 2. **Fatty Acid Metabolism:** Dysregulation of PHYH expression has been implicated in various fatty acid metabolic disorders, including fatty acid oxidation disorders. 3. **Peroxisomal Disorders:** PHYH is also involved in the pathogenesis of peroxisomal disorders, such as peroxisomal biogenesis disorders, which are characterized by impaired peroxisomal function. 4. **Nutritional Implications:** The expression of PHYH is important for the proper metabolism of phytate and fatty acids, highlighting the importance of adequate nutrient intake for optimal health. In conclusion, PHYH is a critical enzyme involved in the catabolism of phytate and the metabolism of fatty acids. Its widespread expression and involvement in various metabolic pathways highlight its importance in maintaining optimal lipid metabolism and overall health.

Genular Protein ID: 3014940384

Symbol: PAHX_HUMAN

Name: Phytanoyl-CoA dioxygenase, peroxisomal

UniProtKB Accession Codes:

O14832 A8MTS8 B1ALH5

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 100 ChiTaRS 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 4 EC 1 EMBL 12 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 13 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 3 RefSeq 3 Rhea 32 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9326939

Title: Identification of PAHX, a Refsum disease gene.

PubMed ID: 9326939

DOI: 10.1038/ng1097-185

PubMed ID: 9326940

Title: Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.

PubMed ID: 9326940

DOI: 10.1038/ng1097-190

PubMed ID: 10051602

Title: Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-CoA alpha-hydroxylase is a new FKBP-associated protein.

PubMed ID: 10051602

DOI: 10.1073/pnas.96.5.2104

PubMed ID: 10767344

Title: Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.

PubMed ID: 10767344

DOI: 10.1093/hmg/9.8.1195

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

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: 10686344

Title: Identification of a brain specific protein that associates with a Refsum disease gene product, phytanoyl-CoA alpha-hydroxylase.

PubMed ID: 10686344

DOI: 10.1016/s0169-328x(99)00304-6

PubMed ID: 10744784

Title: Phytanoyl-CoA hydroxylase: recognition of 3-methyl-branched acyl-coAs and requirement for GTP or ATP and Mg(2+) in addition to its known hydroxylation cofactors.

PubMed ID: 10744784

PubMed ID: 12031666

Title: Utilization of sterol carrier protein-2 by phytanoyl-CoA 2-hydroxylase in the peroxisomal alpha oxidation of phytanic acid.

PubMed ID: 12031666

DOI: 10.1016/s1074-5521(02)00139-4

PubMed ID: 12923223

Title: Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease?

PubMed ID: 12923223

DOI: 10.1194/jlr.m300230-jlr200

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: 16186124

Title: Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease.

PubMed ID: 16186124

DOI: 10.1074/jbc.m507528200

PubMed ID: 14974078

Title: Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).

PubMed ID: 14974078

DOI: 10.1002/humu.10315

PubMed ID: 10709665

Title: Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.

PubMed ID: 10709665

PubMed ID: 27535533

Title: Analysis of protein-coding genetic variation in 60,706 humans.

PubMed ID: 27535533

DOI: 10.1038/nature19057

Sequence Information:

  • Length: 338
  • Mass: 38538
  • Checksum: FBF9639E7C79A6B0
  • Sequence:
    • MEQLRAAARL QIVLGHLGRP SAGAVVAHPT SGTISSASFH PQQFQYTLDN NVLTLEQRKF 
YEENGFLVIK NLVPDADIQR FRNEFEKICR KEVKPLGLTV MRDVTISKSE YAPSEKMITK 
VQDFQEDKEL FRYCTLPEIL KYVECFTGPN IMAMHTMLIN KPPDSGKKTS RHPLHQDLHY 
FPFRPSDLIV CAWTAMEHIS RNNGCLVVLP GTHKGSLKPH DYPKWEGGVN KMFHGIQDYE 
ENKARVHLVM EKGDTVFFHP LLIHGSGQNK TQGFRKAISC HFASADCHYI DVKGTSQENI 
EKEVVGIAHK FFGAENSVNL KDIWMFRARL VKGERTNL

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.