Details for: HGD

Gene ID: 3081

Symbol: HGD

Ensembl ID: ENSG00000113924

Description: homogentisate 1,2-dioxygenase

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: 117.7150
    Cell Significance Index: -18.3100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 72.3062
    Cell Significance Index: -18.3400
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 27.5086
    Cell Significance Index: -14.1500
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 20.2527
    Cell Significance Index: -13.5900
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 16.2540
    Cell Significance Index: 97.4000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 14.8424
    Cell Significance Index: -18.3000
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 12.0909
    Cell Significance Index: 203.6700
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 3.6272
    Cell Significance Index: 51.5400
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 3.1805
    Cell Significance Index: 4.1200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.1748
    Cell Significance Index: 431.5900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 2.0494
    Cell Significance Index: 44.4000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.5316
    Cell Significance Index: 22.9500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.3301
    Cell Significance Index: 193.3500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.1397
    Cell Significance Index: 185.3700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.1235
    Cell Significance Index: 8.9700
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.0410
    Cell Significance Index: 6.0000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7691
    Cell Significance Index: 46.1700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7485
    Cell Significance Index: 21.5700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6833
    Cell Significance Index: 74.3300
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 0.5363
    Cell Significance Index: 2.0200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.5318
    Cell Significance Index: 7.8500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4926
    Cell Significance Index: 93.7400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4591
    Cell Significance Index: 20.8100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3998
    Cell Significance Index: 360.9800
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.3887
    Cell Significance Index: 4.1300
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.3218
    Cell Significance Index: 3.3300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.2683
    Cell Significance Index: 3.6600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2492
    Cell Significance Index: 136.1200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2041
    Cell Significance Index: 20.1900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1634
    Cell Significance Index: 3.4800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1044
    Cell Significance Index: 3.6700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0962
    Cell Significance Index: 16.4300
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: 0.0892
    Cell Significance Index: 1.2500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0842
    Cell Significance Index: 53.5000
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 0.0341
    Cell Significance Index: 0.0900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0062
    Cell Significance Index: 0.4600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0028
    Cell Significance Index: 5.3100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0003
    Cell Significance Index: -0.2400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0042
    Cell Significance Index: -0.7500
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.0065
    Cell Significance Index: -0.0500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0069
    Cell Significance Index: -3.0300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0070
    Cell Significance Index: -1.4000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0155
    Cell Significance Index: -28.5900
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0178
    Cell Significance Index: -0.7700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0185
    Cell Significance Index: -12.7800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0197
    Cell Significance Index: -2.3000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0204
    Cell Significance Index: -2.0800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0204
    Cell Significance Index: -15.1000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0226
    Cell Significance Index: -17.0700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0243
    Cell Significance Index: -15.1700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0284
    Cell Significance Index: -43.7700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0286
    Cell Significance Index: -0.8000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0289
    Cell Significance Index: -16.3200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0306
    Cell Significance Index: -10.9800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0316
    Cell Significance Index: -3.6300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0355
    Cell Significance Index: -10.2200
  • Cell Name: precursor cell (CL0011115)
    Fold Change: -0.0369
    Cell Significance Index: -0.2800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0391
    Cell Significance Index: -1.9700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0411
    Cell Significance Index: -18.6500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0425
    Cell Significance Index: -57.7300
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: -0.0528
    Cell Significance Index: -0.4200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0545
    Cell Significance Index: -3.3400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0568
    Cell Significance Index: -6.9800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0592
    Cell Significance Index: -4.6900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0665
    Cell Significance Index: -2.7200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0918
    Cell Significance Index: -2.3600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1082
    Cell Significance Index: -14.8600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1101
    Cell Significance Index: -14.2300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1280
    Cell Significance Index: -4.1000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1308
    Cell Significance Index: -27.5600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1336
    Cell Significance Index: -6.2300
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.1355
    Cell Significance Index: -1.8800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1378
    Cell Significance Index: -3.7500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1536
    Cell Significance Index: -9.6800
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: -0.1568
    Cell Significance Index: -1.2300
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.1582
    Cell Significance Index: -2.6600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1663
    Cell Significance Index: -3.4800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1739
    Cell Significance Index: -18.1100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1922
    Cell Significance Index: -10.0100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1983
    Cell Significance Index: -3.8700
  • Cell Name: neuroplacodal cell (CL0000032)
    Fold Change: -0.2014
    Cell Significance Index: -2.4800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.2025
    Cell Significance Index: -2.3000
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.2081
    Cell Significance Index: -1.4100
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.2112
    Cell Significance Index: -2.1900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2154
    Cell Significance Index: -2.2300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2224
    Cell Significance Index: -14.3500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2235
    Cell Significance Index: -15.0300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2270
    Cell Significance Index: -10.6700
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.2272
    Cell Significance Index: -2.5100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2291
    Cell Significance Index: -6.1400
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.2400
    Cell Significance Index: -2.6200
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.2454
    Cell Significance Index: -3.4900
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.2464
    Cell Significance Index: -1.2900
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: -0.2474
    Cell Significance Index: -2.6500
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: -0.2496
    Cell Significance Index: -2.3100
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.2624
    Cell Significance Index: -4.2100
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.2652
    Cell Significance Index: -2.3900
  • Cell Name: parietal cell (CL0000162)
    Fold Change: -0.2881
    Cell Significance Index: -2.7300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2907
    Cell Significance Index: -4.3800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2992
    Cell Significance Index: -18.3900

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. **Catalytic Activity:** HGD is a dioxygenase enzyme that catalyzes the conversion of homogentisate to 4-maleylacetoacetate, a process that requires the incorporation of oxygen. 2. **Substrate Specificity:** HGD has a high affinity for homogentisate, a product of phenylalanine and tyrosine catabolism. 3. **Tissue Expression:** HGD is expressed in various tissues, including glandular epithelial cells, hepatocytes, retinal bipolar neurons, and renal alpha-intercalated cells. 4. **Regulation:** The expression and activity of HGD are regulated by various factors, including transcriptional and post-transcriptional mechanisms. **Pathways and Functions:** HGD is involved in the catabolic pathway of phenylalanine and tyrosine, which are essential amino acids. The enzyme catalyzes the conversion of homogentisate to 4-maleylacetoacetate, a critical step in the degradation of these amino acids. The pathways and functions of HGD can be summarized as follows: 1. **Phenylalanine Catabolism:** HGD catalyzes the conversion of phenylalanine to tyrosine, which is then further degraded to fumarate and acetoacetate. 2. **Tyrosine Catabolism:** HGD catalyzes the conversion of tyrosine to 4-hydroxyphenylpyruvate, which is then further degraded to fumarate and acetoacetate. 3. **Metabolism of Amino Acids and Derivatives:** HGD is involved in the metabolism of amino acids and derivatives, including phenylalanine, tyrosine, and their derivatives. 4. **Metal Ion Binding:** HGD has a high affinity for metal ions, including iron and copper, which are essential for its catalytic activity. **Clinical Significance:** Dysregulation of HGD has been implicated in various diseases, including: 1. **Alkaptonuria:** A genetic disorder characterized by the accumulation of homogentisic acid, which is a product of HGD activity. 2. **Ochronosis:** A condition characterized by the accumulation of homogentisic acid in connective tissue, leading to pigmentation and tissue damage. 3. **Neuropathy:** HGD has been implicated in the pathogenesis of neuropathy, particularly in patients with alkaptonuria. 4. **Cancer:** HGD has been shown to be overexpressed in certain types of cancer, including prostate cancer and breast cancer. In conclusion, HGD is a critical enzyme in the catabolic pathway of phenylalanine and tyrosine, and its dysregulation has been implicated in various diseases. Further research is needed to fully understand the role of HGD in human health and disease.

Genular Protein ID: 955686985

Symbol: HGD_HUMAN

Name: Homogentisate 1,2-dioxygenase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8782815

Title: The molecular basis of alkaptonuria.

PubMed ID: 8782815

DOI: 10.1038/ng0996-19

PubMed ID: 9244427

Title: The human homogentisate 1,2-dioxygenase (HGO) gene.

PubMed ID: 9244427

DOI: 10.1006/geno.1997.4805

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

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: 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: 10876237

Title: Crystal structure of human homogentisate dioxygenase.

PubMed ID: 10876237

DOI: 10.1038/76756

PubMed ID: 9154114

Title: Molecular defects in alkaptonuria.

PubMed ID: 9154114

DOI: 10.1159/000134501

PubMed ID: 9529363

Title: Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.

PubMed ID: 9529363

DOI: 10.1086/301805

PubMed ID: 9630082

Title: A novel point mutation associated with alkaptonuria.

PubMed ID: 9630082

DOI: 10.1111/j.1399-0004.1998.tb02684.x

PubMed ID: 10205262

Title: Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).

PubMed ID: 10205262

DOI: 10.1086/302376

PubMed ID: 10340975

Title: Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.

PubMed ID: 10340975

DOI: 10.1136/bjo.83.6.680

PubMed ID: 10482952

Title: Allelic heterogeneity of alkaptonuria in Central Europe.

PubMed ID: 10482952

DOI: 10.1038/sj.ejhg.5200343

PubMed ID: 10594001

Title: Mutational analysis of the HGO gene in Finnish alkaptonuria patients.

PubMed ID: 10594001

PubMed ID: 19862842

Title: Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

PubMed ID: 19862842

DOI: 10.1002/humu.21120

PubMed ID: 23430897

Title: Identification of 11 novel homogentisate 1,2 dioxygenase variants in alkaptonuria patients and establishment of a novel LOVD-based HGD mutation database.

PubMed ID: 23430897

DOI: 10.1007/8904_2011_68

PubMed ID: 21437689

Title: Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.

PubMed ID: 21437689

DOI: 10.1007/s00296-011-1868-0

PubMed ID: 23353776

Title: First report of HGD mutations in a Chinese with alkaptonuria.

PubMed ID: 23353776

DOI: 10.1016/j.gene.2013.01.020

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: 25681086

Title: Analysis of HGD gene mutations in patients with alkaptonuria from the United Kingdom: identification of novel mutations.

PubMed ID: 25681086

DOI: 10.1007/8904_2014_380

Sequence Information:

  • Length: 445
  • Mass: 49964
  • Checksum: F99B51C134FFF965
  • Sequence:
  • MAELKYISGF GNECSSEDPR CPGSLPEGQN NPQVCPYNLY AEQLSGSAFT CPRSTNKRSW 
    LYRILPSVSH KPFESIDEGQ VTHNWDEVDP DPNQLRWKPF EIPKASQKKV DFVSGLHTLC 
    GAGDIKSNNG LAIHIFLCNT SMENRCFYNS DGDFLIVPQK GNLLIYTEFG KMLVQPNEIC 
    VIQRGMRFSI DVFEETRGYI LEVYGVHFEL PDLGPIGANG LANPRDFLIP IAWYEDRQVP 
    GGYTVINKYQ GKLFAAKQDV SPFNVVAWHG NYTPYKYNLK NFMVINSVAF DHADPSIFTV 
    LTAKSVRPGV AIADFVIFPP RWGVADKTFR PPYYHRNCMS EFMGLIRGHY EAKQGGFLPG 
    GGSLHSTMTP HGPDADCFEK ASKVKLAPER IADGTMAFMF ESSLSLAVTK WGLKASRCLD 
    ENYHKCWEPL KSHFTPNSRN PAEPN

Genular Protein ID: 2475195584

Symbol: B3KW64_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 304
  • Mass: 34281
  • Checksum: 8F95A7CD056B9F87
  • Sequence:
  • MENRCFYNSD GDFLIVPQKG NLLIYTEFGK MLVQPNEICV IQRGMRFSID VFEETRGYIL 
    EVYGVHFELP DLGPIGANGL ANPRDFLIPI AWYEDRQVPG GYTVINKYQG KLFAAKQDVS 
    PFNVVAWHGN YTPYKYNLKN FMVINSVAFD HADPSIFTVL TAKSVRPGVA IADFVIFPPR 
    WGVADKTFRP PYYHRNCMSE FMGLIRGHYE AKQGGFLPGG GSLHSTMTPH GPDADCFEKA 
    SKVKLAPERI ADGTMAFMFE SSLSLAVTKW GLKASRCLDE NYHKCWEPLK SHFTPNSRNP 
    AEPN

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.