Details for: AHCY

Gene ID: 191

Symbol: AHCY

Ensembl ID: ENSG00000101444

Description: adenosylhomocysteinase

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: 133.1446
    Cell Significance Index: -20.7100
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 66.5376
    Cell Significance Index: -27.4100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 59.1497
    Cell Significance Index: -24.0300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 57.9299
    Cell Significance Index: -27.3500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 54.9199
    Cell Significance Index: -28.2500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 46.3840
    Cell Significance Index: -11.7700
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 40.7140
    Cell Significance Index: -27.3200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 25.4624
    Cell Significance Index: -24.3100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 19.2221
    Cell Significance Index: -23.7000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.7392
    Cell Significance Index: -26.0900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.2721
    Cell Significance Index: -24.7500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.9141
    Cell Significance Index: -18.1700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 3.9528
    Cell Significance Index: 31.5600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 3.9425
    Cell Significance Index: 42.8600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 3.2912
    Cell Significance Index: 68.8900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.8374
    Cell Significance Index: -6.2100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 2.7091
    Cell Significance Index: 162.6400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.8114
    Cell Significance Index: 359.4800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.7297
    Cell Significance Index: 47.0800
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.6835
    Cell Significance Index: 21.5600
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.6568
    Cell Significance Index: 12.5100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.5503
    Cell Significance Index: 212.9000
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.4284
    Cell Significance Index: 33.0000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.3599
    Cell Significance Index: 175.6900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.3064
    Cell Significance Index: 713.4800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.2986
    Cell Significance Index: 34.8000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.2243
    Cell Significance Index: 86.5900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.0427
    Cell Significance Index: 77.7200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.0392
    Cell Significance Index: 177.4500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.0363
    Cell Significance Index: 36.0100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.0352
    Cell Significance Index: 122.0800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.9921
    Cell Significance Index: 28.5900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.8372
    Cell Significance Index: 54.0100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.8239
    Cell Significance Index: 56.9800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.8176
    Cell Significance Index: 38.4300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.8099
    Cell Significance Index: 99.5900
  • Cell Name: colon endothelial cell (CL1001572)
    Fold Change: 0.8058
    Cell Significance Index: 0.6100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.7778
    Cell Significance Index: 16.8500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7175
    Cell Significance Index: 129.3400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.6901
    Cell Significance Index: 31.2800
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.6734
    Cell Significance Index: 3.2800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.6711
    Cell Significance Index: 296.7100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.6466
    Cell Significance Index: 33.5900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.6190
    Cell Significance Index: 18.1800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.5712
    Cell Significance Index: 26.6300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5180
    Cell Significance Index: 84.2500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.5180
    Cell Significance Index: 13.6200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3871
    Cell Significance Index: 349.5500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3844
    Cell Significance Index: 38.0300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3811
    Cell Significance Index: 72.5300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3132
    Cell Significance Index: 40.1500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.2616
    Cell Significance Index: 8.3800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.2074
    Cell Significance Index: 1.9100
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.1853
    Cell Significance Index: 1.1600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1670
    Cell Significance Index: 33.5100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1467
    Cell Significance Index: 4.1000
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.1195
    Cell Significance Index: 1.2700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1069
    Cell Significance Index: 3.7600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0871
    Cell Significance Index: 65.9100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.0827
    Cell Significance Index: 0.9400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0630
    Cell Significance Index: 0.8600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0608
    Cell Significance Index: 3.8300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0568
    Cell Significance Index: 1.2100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0508
    Cell Significance Index: 0.8500
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.0357
    Cell Significance Index: 0.2200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0356
    Cell Significance Index: 12.7800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.0260
    Cell Significance Index: 0.3900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0042
    Cell Significance Index: -3.1400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0084
    Cell Significance Index: -5.2500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0088
    Cell Significance Index: -16.6400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0119
    Cell Significance Index: -1.2200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0140
    Cell Significance Index: -25.8400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0160
    Cell Significance Index: -0.4100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0168
    Cell Significance Index: -12.3200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0182
    Cell Significance Index: -28.0700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0209
    Cell Significance Index: -28.4300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0344
    Cell Significance Index: -19.4000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0388
    Cell Significance Index: -24.6200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0568
    Cell Significance Index: -25.7700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0592
    Cell Significance Index: -17.0300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0611
    Cell Significance Index: -12.8800
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0829
    Cell Significance Index: -9.4600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1144
    Cell Significance Index: -13.1100
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.1212
    Cell Significance Index: -1.7000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1314
    Cell Significance Index: -15.3100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1323
    Cell Significance Index: -6.6800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1352
    Cell Significance Index: -1.4000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1378
    Cell Significance Index: -3.6800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1667
    Cell Significance Index: -24.2300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1857
    Cell Significance Index: -14.2500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1917
    Cell Significance Index: -10.7600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2233
    Cell Significance Index: -9.1500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2261
    Cell Significance Index: -6.4800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2376
    Cell Significance Index: -24.7400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2460
    Cell Significance Index: -19.4800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2515
    Cell Significance Index: -3.7900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2722
    Cell Significance Index: -7.2800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2903
    Cell Significance Index: -19.5200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2923
    Cell Significance Index: -17.9200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2943
    Cell Significance Index: -15.3300

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. **Enzymatic function:** AHCY is responsible for catalyzing the hydrolysis of homocysteine to form cystathionine, a reaction that is essential for the maintenance of homocysteine homeostasis. 2. **Subcellular localization:** AHCY is primarily localized in the cytosol, although it has also been detected in the nucleus and endoplasmic reticulum. 3. **Cellular expression:** AHCY is expressed in various cell types, including stem cells, epithelial cells, and immune cells, highlighting its broad functional significance. 4. **Molecular structure:** AHCY is a metalloenzyme, containing a zinc ion at its active site, which is essential for its catalytic activity. **Pathways and Functions:** 1. **One-carbon metabolism:** AHCY plays a critical role in the one-carbon metabolic pathway, which is essential for the synthesis of nucleic acids, amino acids, and other biomolecules. 2. **S-adenosylmethionine cycle:** AHCY is involved in the S-adenosylmethionine (SAMe) cycle, a metabolic pathway that regulates methylation reactions in various cellular processes. 3. **Homocysteine metabolism:** AHCY is responsible for the hydrolysis of homocysteine to form cystathionine, a reaction that is essential for maintaining homocysteine homeostasis. 4. **Methylation reactions:** AHCY has been implicated in various methylation reactions, including the methylation of DNA, histones, and other proteins. **Clinical Significance:** 1. **Metabolic disorders:** AHCY has been implicated in various metabolic disorders, including those affecting the nervous system, cardiovascular system, and immune system. 2. **Neurodegenerative diseases:** AHCY dysfunction has been linked to neurodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, and Huntington's disease. 3. **Cardiovascular disease:** AHCY has been implicated in cardiovascular disease, including atherosclerosis and hypertension. 4. **Immune system disorders:** AHCY dysfunction has been linked to immune system disorders, including autoimmune diseases and immunodeficiency disorders. In conclusion, the AHCY gene plays a critical role in maintaining homocysteine homeostasis and is involved in various cellular processes, including one-carbon metabolism, S-adenosylmethionine cycle, and methylation reactions. Dysregulation of AHCY has been implicated in various metabolic disorders, including those affecting the nervous system, cardiovascular system, and immune system. Further research is necessary to fully elucidate the functional significance of AHCY and its role in human health and disease.

Genular Protein ID: 1176955049

Symbol: SAHH_HUMAN

Name: Adenosylhomocysteinase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2596825

Title: Sequence of full length cDNA for human S-adenosylhomocysteine hydrolase.

PubMed ID: 2596825

DOI: 10.1111/j.1469-1809.1989.tb01781.x

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

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: 7786017

Title: Limited proteolysis of S-adenosylhomocysteine hydrolase: implications for the three-dimensional structure.

PubMed ID: 7786017

DOI: 10.1006/abbi.1995.1306

PubMed ID: 2574561

Title: Isozyme and DNA analysis of human S-adenosyl-L-homocysteine hydrolase (AHCY).

PubMed ID: 2574561

DOI: 10.1111/j.1469-1809.1989.tb01780.x

PubMed ID: 7608178

Title: Photoaffinity labeling of human placental S-adenosylhomocysteine hydrolase with [2-3H]8-azido-adenosine.

PubMed ID: 7608178

DOI: 10.1074/jbc.270.27.16140

PubMed ID: 10933798

Title: Substrate binding stabilizes S-adenosylhomocysteine hydrolase in a closed conformation.

PubMed ID: 10933798

DOI: 10.1021/bi000595a

PubMed ID: 17081065

Title: Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.

PubMed ID: 17081065

DOI: 10.1021/pr060363j

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: 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: 29192674

Title: Landscape of the regulatory elements for lysine 2-hydroxyisobutyrylation pathway.

PubMed ID: 29192674

DOI: 10.1038/cr.2017.149

PubMed ID: 9586999

Title: Structure determination of selenomethionyl S-adenosylhomocysteine hydrolase using data at a single wavelength.

PubMed ID: 9586999

DOI: 10.1038/nsb0598-369

PubMed ID: 12590576

Title: Catalytic strategy of S-adenosyl-L-homocysteine hydrolase: transition-state stabilization and the avoidance of abortive reactions.

PubMed ID: 12590576

DOI: 10.1021/bi0262350

PubMed ID: 15241484

Title: Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis.

PubMed ID: 15241484

DOI: 10.1038/sj.ejhg.5201237

PubMed ID: 15024124

Title: S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism.

PubMed ID: 15024124

DOI: 10.1073/pnas.0400658101

PubMed ID: 16872278

Title: A single mutation at Tyr143 of human S-adenosylhomocysteine hydrolase renders the enzyme thermosensitive and affects the oxidation state of bound cofactor nicotinamide-adenine dinucleotide.

PubMed ID: 16872278

DOI: 10.1042/bj20060749

PubMed ID: 16736098

Title: S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man.

PubMed ID: 16736098

DOI: 10.1007/s10545-006-0240-0

PubMed ID: 18211827

Title: S-Adenosylhomocysteine hydrolase (AdoHcyase) deficiency: enzymatic capabilities of human AdoHcyase are highly effected by changes to codon 89 and its surrounding residues.

PubMed ID: 18211827

DOI: 10.1016/j.bbrc.2008.01.042

PubMed ID: 19177456

Title: S-adenosylhomocysteine hydrolase (AHCY) deficiency: two novel mutations with lethal outcome.

PubMed ID: 19177456

DOI: 10.1002/humu.20985

PubMed ID: 20852937

Title: S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes.

PubMed ID: 20852937

DOI: 10.1007/s10545-010-9171-x

PubMed ID: 22959829

Title: Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

PubMed ID: 22959829

DOI: 10.1016/j.ymgme.2012.08.014

PubMed ID: 26095522

Title: Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.

PubMed ID: 26095522

DOI: 10.1016/j.ymgme.2015.06.005

PubMed ID: 28647132

Title: Mutations in S-adenosylhomocysteine hydrolase (AHCY) affect its nucleocytoplasmic distribution and capability to interact with S-adenosylhomocysteine hydrolase-like 1 protein.

PubMed ID: 28647132

DOI: 10.1016/j.ejcb.2017.05.002

Sequence Information:

  • Length: 432
  • Mass: 47716
  • Checksum: 2833C025F969553E
  • Sequence:
  • MSDKLPYKVA DIGLAAWGRK ALDIAENEMP GLMRMRERYS ASKPLKGARI AGCLHMTVET 
    AVLIETLVTL GAEVQWSSCN IFSTQDHAAA AIAKAGIPVY AWKGETDEEY LWCIEQTLYF 
    KDGPLNMILD DGGDLTNLIH TKYPQLLPGI RGISEETTTG VHNLYKMMAN GILKVPAINV 
    NDSVTKSKFD NLYGCRESLI DGIKRATDVM IAGKVAVVAG YGDVGKGCAQ ALRGFGARVI 
    ITEIDPINAL QAAMEGYEVT TMDEACQEGN IFVTTTGCID IILGRHFEQM KDDAIVCNIG 
    HFDVEIDVKW LNENAVEKVN IKPQVDRYRL KNGRRIILLA EGRLVNLGCA MGHPSFVMSN 
    SFTNQVMAQI ELWTHPDKYP VGVHFLPKKL DEAVAEAHLG KLNVKLTKLT EKQAQYLGMS 
    CDGPFKPDHY RY

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.