Details for: PLOD1

Gene ID: 5351

Symbol: PLOD1

Ensembl ID: ENSG00000083444

Description: procollagen-lysine,2-oxoglutarate 5-dioxygenase 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: 146.7097
    Cell Significance Index: -22.8200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 90.9150
    Cell Significance Index: -23.0600
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 56.7548
    Cell Significance Index: -23.3800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 53.4501
    Cell Significance Index: -25.2400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 51.9376
    Cell Significance Index: -21.1000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 46.6188
    Cell Significance Index: -23.9800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 22.1107
    Cell Significance Index: -21.1100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 19.0437
    Cell Significance Index: -23.4800
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.4367
    Cell Significance Index: -19.7700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.9832
    Cell Significance Index: -23.6100
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 3.5985
    Cell Significance Index: 46.0900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.5641
    Cell Significance Index: 81.4700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.4801
    Cell Significance Index: 30.9800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.2361
    Cell Significance Index: 122.2800
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.0892
    Cell Significance Index: 7.3800
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.0678
    Cell Significance Index: 6.6400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9962
    Cell Significance Index: 899.5300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.7044
    Cell Significance Index: 18.8800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6207
    Cell Significance Index: 67.5200
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.5916
    Cell Significance Index: 3.6600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5324
    Cell Significance Index: 73.1200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.5271
    Cell Significance Index: 5.7300
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.4646
    Cell Significance Index: 4.8500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4519
    Cell Significance Index: 246.8200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4197
    Cell Significance Index: 19.5700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3623
    Cell Significance Index: 46.4500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3461
    Cell Significance Index: 68.6800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3267
    Cell Significance Index: 22.5900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2267
    Cell Significance Index: 45.4800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1936
    Cell Significance Index: 36.8500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1838
    Cell Significance Index: 8.3300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1819
    Cell Significance Index: 5.2400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1364
    Cell Significance Index: 94.3500
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.1165
    Cell Significance Index: 0.9500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1152
    Cell Significance Index: 6.0500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1124
    Cell Significance Index: 20.2700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1095
    Cell Significance Index: 39.2800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1033
    Cell Significance Index: 17.6400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0992
    Cell Significance Index: 1.6600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0957
    Cell Significance Index: 12.3600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0737
    Cell Significance Index: 113.3900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0444
    Cell Significance Index: 19.6100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0426
    Cell Significance Index: 57.9000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0360
    Cell Significance Index: 67.6900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0264
    Cell Significance Index: 48.6300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0225
    Cell Significance Index: 10.2000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0116
    Cell Significance Index: 0.3100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0085
    Cell Significance Index: 0.1800
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.0035
    Cell Significance Index: 0.0500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0008
    Cell Significance Index: 0.0200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0002
    Cell Significance Index: -0.0100
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.0017
    Cell Significance Index: -0.0100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0100
    Cell Significance Index: -6.3700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0132
    Cell Significance Index: -9.8100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0135
    Cell Significance Index: -10.2200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0172
    Cell Significance Index: -10.7600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0236
    Cell Significance Index: -2.9000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0250
    Cell Significance Index: -2.5500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0279
    Cell Significance Index: -20.4200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0281
    Cell Significance Index: -0.5200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0300
    Cell Significance Index: -16.9200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0617
    Cell Significance Index: -17.7400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0676
    Cell Significance Index: -14.2500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0755
    Cell Significance Index: -2.1100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0758
    Cell Significance Index: -8.8300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0843
    Cell Significance Index: -3.9600
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.0845
    Cell Significance Index: -0.7100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0894
    Cell Significance Index: -10.2400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0952
    Cell Significance Index: -2.3800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0961
    Cell Significance Index: -13.9700
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.1038
    Cell Significance Index: -0.6500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1185
    Cell Significance Index: -13.9700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1237
    Cell Significance Index: -4.3000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1347
    Cell Significance Index: -8.2600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1558
    Cell Significance Index: -17.7800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1585
    Cell Significance Index: -11.8100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1588
    Cell Significance Index: -8.2500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1624
    Cell Significance Index: -16.9100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1700
    Cell Significance Index: -12.0200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1870
    Cell Significance Index: -5.9900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2018
    Cell Significance Index: -13.0200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2617
    Cell Significance Index: -5.6700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2673
    Cell Significance Index: -17.9700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2852
    Cell Significance Index: -17.5300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2874
    Cell Significance Index: -16.1300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2883
    Cell Significance Index: -22.8300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2883
    Cell Significance Index: -14.5700
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: -0.3516
    Cell Significance Index: -1.7100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3578
    Cell Significance Index: -9.7400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3776
    Cell Significance Index: -16.7000
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.3873
    Cell Significance Index: -5.5500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3974
    Cell Significance Index: -10.6300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.4031
    Cell Significance Index: -25.4100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4512
    Cell Significance Index: -17.0900
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.5458
    Cell Significance Index: -7.6500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5567
    Cell Significance Index: -19.5000
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.5596
    Cell Significance Index: -17.7000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.5597
    Cell Significance Index: -11.6100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.5665
    Cell Significance Index: -16.2400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5668
    Cell Significance Index: -14.5700

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:** PLOD1 is a dioxygenase enzyme that catalyzes the hydroxylation of lysine residues in procollagen, converting them to hydroxylysine. This reaction is essential for the formation of cross-links between collagen molecules, thereby stabilizing the extracellular matrix. PLOD1 is a member of the peptidyl-lysine hydroxylase family and exhibits a high degree of specificity for procollagen. The enzyme is sensitive to oxygen levels, with reduced activity observed under hypoxic conditions, highlighting its response to tissue hypoxia. **Pathways and Functions:** PLOD1 is involved in multiple signaling pathways, including: 1. **Collagen biosynthesis and modifying enzymes:** PLOD1 is a key enzyme in the hydroxylation of lysine residues in procollagen, which is essential for collagen maturation and stability. 2. **Collagen formation:** PLOD1 plays a critical role in the formation of collagen fibers, which are essential for tissue structure and function. 3. **Endoplasmic reticulum and endoplasmic reticulum membrane:** PLOD1 is localized to the endoplasmic reticulum and endoplasmic reticulum membrane, where it interacts with other enzymes and proteins involved in collagen biosynthesis. 4. **Epidermis development and extracellular matrix organization:** PLOD1 is expressed in epithelial cells and plays a role in the development and organization of the extracellular matrix in skin and other tissues. 5. **Response to hypoxia:** PLOD1 activity is reduced under hypoxic conditions, highlighting its response to tissue hypoxia and its potential role in regulating tissue oxygenation. **Clinical Significance:** Dysregulation of PLOD1 has been implicated in various diseases, including: 1. **Fibrosis:** Altered PLOD1 activity has been observed in fibrotic diseases, such as liver and kidney fibrosis, highlighting its potential role in tissue repair and scarring. 2. **Cancer:** PLOD1 has been shown to be overexpressed in certain types of cancer, including breast and lung cancer, suggesting its potential role in tumor progression and metastasis. 3. **Autoimmune disorders:** PLOD1 has been implicated in autoimmune diseases, such as rheumatoid arthritis and lupus, highlighting its potential role in tissue damage and inflammation. 4. **Osteoporosis:** Altered PLOD1 activity has been observed in osteoporosis, suggesting its potential role in bone health and density. In conclusion, PLOD1 is a critical gene involved in collagen biosynthesis and the regulation of tissue structure and function. Its dysregulation has been implicated in various diseases, highlighting its potential as a therapeutic target for the treatment of fibrosis, cancer, and autoimmune disorders.

Genular Protein ID: 1466045069

Symbol: PLOD1_HUMAN

Name: Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1577494

Title: Cloning of human lysyl hydroxylase: complete cDNA-derived amino acid sequence and assignment of the gene (PLOD) to chromosome 1p36.3-p36.2.

PubMed ID: 1577494

DOI: 10.1016/0888-7543(92)90202-4

PubMed ID: 7713497

Title: Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients.

PubMed ID: 7713497

DOI: 10.1006/geno.1994.1654

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: 8621606

Title: Site-directed mutagenesis of human lysyl hydroxylase expressed in insect cells. Identification of histidine residues and an aspartic acid residue critical for catalytic activity.

PubMed ID: 8621606

DOI: 10.1074/jbc.271.16.9398

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: 8163671

Title: A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.

PubMed ID: 8163671

DOI: 10.1172/jci117155

PubMed ID: 9617436

Title: Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C).

PubMed ID: 9617436

DOI: 10.1007/s004030050287

PubMed ID: 10686424

Title: Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI.

PubMed ID: 10686424

DOI: 10.1016/s0945-053x(99)00055-4

PubMed ID: 15666309

Title: Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).

PubMed ID: 15666309

DOI: 10.1002/ajmg.a.30529

PubMed ID: 15854030

Title: A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.

PubMed ID: 15854030

DOI: 10.1111/j.0022-202x.2005.23727.x

PubMed ID: 15979919

Title: Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).

PubMed ID: 15979919

DOI: 10.1016/j.ymgme.2005.04.014

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 727
  • Mass: 83550
  • Checksum: 6C3E0C11B15D598C
  • Sequence:
  • MRPLLLLALL GWLLLAEAKG DAKPEDNLLV LTVATKETEG FRRFKRSAQF FNYKIQALGL 
    GEDWNVEKGT SAGGGQKVRL LKKALEKHAD KEDLVILFAD SYDVLFASGP RELLKKFRQA 
    RSQVVFSAEE LIYPDRRLET KYPVVSDGKR FLGSGGFIGY APNLSKLVAE WEGQDSDSDQ 
    LFYTKIFLDP EKREQINITL DHRCRIFQNL DGALDEVVLK FEMGHVRARN LAYDTLPVLI 
    HGNGPTKLQL NYLGNYIPRF WTFETGCTVC DEGLRSLKGI GDEALPTVLV GVFIEQPTPF 
    VSLFFQRLLR LHYPQKHMRL FIHNHEQHHK AQVEEFLAQH GSEYQSVKLV GPEVRMANAD 
    ARNMGADLCR QDRSCTYYFS VDADVALTEP NSLRLLIQQN KNVIAPLMTR HGRLWSNFWG 
    ALSADGYYAR SEDYVDIVQG RRVGVWNVPY ISNIYLIKGS ALRGELQSSD LFHHSKLDPD 
    MAFCANIRQQ DVFMFLTNRH TLGHLLSLDS YRTTHLHNDL WEVFSNPEDW KEKYIHQNYT 
    KALAGKLVET PCPDVYWFPI FTEVACDELV EEMEHFGQWS LGNNKDNRIQ GGYENVPTID 
    IHMNQIGFER EWHKFLLEYI APMTEKLYPG YYTRAQFDLA FVVRYKPDEQ PSLMPHHDAS 
    TFTINIALNR VGVDYEGGGC RFLRYNCSIR APRKGWTLMH PGRLTHYHEG LPTTRGTRYI 
    AVSFVDP

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.