Details for: AHCY

Gene ID: 191

Symbol: AHCY

Ensembl ID: ENSG00000101444

Description: adenosylhomocysteinase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.36
    Marker Score: 10159
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.86
    Marker Score: 4419
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.85
    Marker Score: 3861
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.81
    Marker Score: 1938
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.78
    Marker Score: 4848
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.76
    Marker Score: 19800
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.76
    Marker Score: 1653
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.71
    Marker Score: 1141
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.69
    Marker Score: 1149
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.67
    Marker Score: 16832
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.66
    Marker Score: 57495
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.66
    Marker Score: 1784
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1.65
    Marker Score: 1034.5
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.65
    Marker Score: 21718
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.64
    Marker Score: 1649
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.61
    Marker Score: 6573
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.6
    Marker Score: 1690
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.59
    Marker Score: 11835
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.59
    Marker Score: 1689
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.59
    Marker Score: 1990
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.58
    Marker Score: 6198
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.56
    Marker Score: 3669
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.54
    Marker Score: 1603
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.54
    Marker Score: 846
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.51
    Marker Score: 9848
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.51
    Marker Score: 484
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.5
    Marker Score: 12967
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.49
    Marker Score: 2526
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.49
    Marker Score: 2436
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.46
    Marker Score: 2542
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 1.44
    Marker Score: 1046
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.43
    Marker Score: 412
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.41
    Marker Score: 2033
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.4
    Marker Score: 3300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.4
    Marker Score: 3408
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.39
    Marker Score: 2232
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 1.39
    Marker Score: 486
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.39
    Marker Score: 1040
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.39
    Marker Score: 5344
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.38
    Marker Score: 3129
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 1.37
    Marker Score: 452
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 1.35
    Marker Score: 10524
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.35
    Marker Score: 2844
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.34
    Marker Score: 706
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.33
    Marker Score: 3945
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.32
    Marker Score: 3584
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.31
    Marker Score: 654
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.31
    Marker Score: 721
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.31
    Marker Score: 4637
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.3
    Marker Score: 369
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.3
    Marker Score: 1732
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.3
    Marker Score: 489
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 1.29
    Marker Score: 633
  • Cell Name: oocyte (CL0000023)
    Fold Change: 1.24
    Marker Score: 307
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.24
    Marker Score: 2191
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.22
    Marker Score: 2788
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 1.22
    Marker Score: 1874
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.21
    Marker Score: 1008
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.2
    Marker Score: 2265
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.19
    Marker Score: 279
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 1.18
    Marker Score: 610
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.18
    Marker Score: 4382
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.17
    Marker Score: 744
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.14
    Marker Score: 382
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.13
    Marker Score: 1663
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.11
    Marker Score: 1251
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 1.1
    Marker Score: 866
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.1
    Marker Score: 11129
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 1.09
    Marker Score: 6615
  • Cell Name: Unknown (CL0000548)
    Fold Change: 1.07
    Marker Score: 778
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.06
    Marker Score: 6261
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.05
    Marker Score: 16485
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.05
    Marker Score: 3429
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251645
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 1.03
    Marker Score: 511
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.03
    Marker Score: 3231
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.01
    Marker Score: 6461
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1
    Marker Score: 633
  • Cell Name: centrocyte (CL0009111)
    Fold Change: 1
    Marker Score: 237
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71665
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47890
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30383
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.97
    Marker Score: 687
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.96
    Marker Score: 658.5
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.96
    Marker Score: 561
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.96
    Marker Score: 975
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.96
    Marker Score: 6102
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 0.96
    Marker Score: 1863
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.96
    Marker Score: 232
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.96
    Marker Score: 330
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.95
    Marker Score: 399
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.95
    Marker Score: 11040
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.94
    Marker Score: 626
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.94
    Marker Score: 501
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2391
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.94
    Marker Score: 1000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 481
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 438
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.92
    Marker Score: 436
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.92
    Marker Score: 265

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Other Information

**Key characteristics:** - AHCY is an enzyme of the glutathione (GSH) family. - It catalyzes the transfer of a hydrogen atom from AHC to various substrates, including glutathione, cysteine, and methionine. - It is involved in the detoxification of reactive oxygen species (ROS) and the maintenance of cellular homeostasis. **Pathways and functions:** - AHCY is involved in the detoxification of ROS generated during oxidative stress. - It forms a complex with glutathione and helps to regulate its concentration. - It also participates in the synthesis of selenocysteine, a precursor for glutathione. - It is involved in the synthesis of carnitine, a molecule that acts as an antioxidant. **Clinical significance:** - Mutations in AHCY have been linked to several human diseases, including hemolytic anemia, hyperthyroidism, and nephropathies. - AHCY inhibitors are being investigated as potential therapeutic agents for these diseases. **Additional information:** - AHCY is a highly conserved enzyme with homologs in other species. - It is a target for cancer immunotherapy due to its involvement in cell proliferation and survival. - It is a promising target for the development of novel therapeutic strategies for various diseases.

Genular Protein ID: 1176955049

Symbol: SAHH_HUMAN

Name: Adenosylhomocysteinase

UniProtKB Accession Codes:

P23526 A8K307 B3KUN3 E1P5P2 F5H737 Q96A36

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 12 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 DrugCentral 1 EC 1 EMBL 10 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 8 Gene3D 2 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HAMAP 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 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 11 PDBsum 8 PIR 1 PIRSF 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 4 RefSeq 8 Rhea 2 SABIO-RK 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.