Details for: HGD

Gene ID: 3081

Symbol: HGD

Ensembl ID: ENSG00000113924

Description: homogentisate 1,2-dioxygenase

Associated with

Cells (max top 100)

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

  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 2.92
    Marker Score: 7,183
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 2.3
    Marker Score: 12,369
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 2.15
    Marker Score: 18,145
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.98
    Marker Score: 12,727
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.98
    Marker Score: 6,475
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.9
    Marker Score: 8,218
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 1.74
    Marker Score: 5,001
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.42
    Marker Score: 747
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.41
    Marker Score: 5,010
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 868
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.34
    Marker Score: 3,158
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.13
    Marker Score: 2,136
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1
    Marker Score: 685
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,822
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,047
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 508
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,409
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 462
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.97
    Marker Score: 2,043
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.96
    Marker Score: 1,952
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,412
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.95
    Marker Score: 928
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.93
    Marker Score: 996
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.93
    Marker Score: 541
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5,270
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,739
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 327
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.88
    Marker Score: 333
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,296
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.87
    Marker Score: 1,441
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.85
    Marker Score: 210
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.8
    Marker Score: 612
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.79
    Marker Score: 318
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,269
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.74
    Marker Score: 493
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.74
    Marker Score: 674
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.74
    Marker Score: 215
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.71
    Marker Score: 3,398
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2,964
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 180
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.7
    Marker Score: 4,470
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.69
    Marker Score: 356
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.67
    Marker Score: 1,529
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.65
    Marker Score: 10,184
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 0.63
    Marker Score: 337
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.62
    Marker Score: 690
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.61
    Marker Score: 247
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.6
    Marker Score: 470
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.6
    Marker Score: 204
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.6
    Marker Score: 135
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.58
    Marker Score: 1,555
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.58
    Marker Score: 1,318
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.55
    Marker Score: 556
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.53
    Marker Score: 535
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.53
    Marker Score: 232
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.53
    Marker Score: 164
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.52
    Marker Score: 565
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.52
    Marker Score: 168
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.52
    Marker Score: 801
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.51
    Marker Score: 189
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.5
    Marker Score: 209
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.49
    Marker Score: 475
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.49
    Marker Score: 467
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.48
    Marker Score: 1,220
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.48
    Marker Score: 16,539
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.48
    Marker Score: 367
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.47
    Marker Score: 491
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.46
    Marker Score: 483
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.45
    Marker Score: 1,559
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.44
    Marker Score: 230
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.43
    Marker Score: 181
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.43
    Marker Score: 101
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.41
    Marker Score: 246
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.4
    Marker Score: 1,270
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.4
    Marker Score: 150
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.39
    Marker Score: 94
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.38
    Marker Score: 792
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 372
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.37
    Marker Score: 95
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.36
    Marker Score: 96
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.36
    Marker Score: 507
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.36
    Marker Score: 370
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.35
    Marker Score: 353
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.34
    Marker Score: 93
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.33
    Marker Score: 91
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.33
    Marker Score: 2,843
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.3
    Marker Score: 145
  • Cell Name: platelet (CL0000233)
    Fold Change: 0.3
    Marker Score: 136
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.3
    Marker Score: 94
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 0.3
    Marker Score: 103
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.29
    Marker Score: 104
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.29
    Marker Score: 454
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.28
    Marker Score: 72
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.27
    Marker Score: 142
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.27
    Marker Score: 524
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.26
    Marker Score: 76
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.26
    Marker Score: 377
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.26
    Marker Score: 350

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:

Q93099 A8K417 B2R8Z0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 8 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 10 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 7 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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:

B3KW64

Database IDs:

ARBA 12 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 1 DNASU 1 EMBL 2 GO 4 Gene3D 1 GenomeRNAi 1 InterPro 5 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 4 RefSeq 1 SUPFAM 1 UniPathway 1

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.