AHCY | ENSG00000101444 | NCBI 191

Details for: AHCY

Gene ID: 191

Symbol: AHCY

Ensembl ID: ENSG00000101444

Description: adenosylhomocysteinase

Associated with

Biological oxidations
(R-HSA-211859)
Defective ahcy causes hmahchd
(R-HSA-5578997)
Disease
(R-HSA-1643685)
Diseases of metabolism
(R-HSA-5668914)
Metabolic disorders of biological oxidation enzymes
(R-HSA-5579029)
Metabolism
(R-HSA-1430728)
Metabolism of amino acids and derivatives
(R-HSA-71291)
Metabolism of ingested semet, sec, mesec into h2se
(R-HSA-2408508)
Methylation
(R-HSA-156581)
Phase ii - conjugation of compounds
(R-HSA-156580)
Selenoamino acid metabolism
(R-HSA-2408522)
Sulfur amino acid metabolism
(R-HSA-1614635)
Adenosylhomocysteinase activity
(GO:0004013)
Cytosol
(GO:0005829)
Endoplasmic reticulum
(GO:0005783)
Extracellular exosome
(GO:0070062)
Melanosome
(GO:0042470)
Nucleus
(GO:0005634)
One-carbon metabolic process
(GO:0006730)
Protein binding
(GO:0005515)
S-adenosylmethionine cycle
(GO:0033353)

Other Information

Proteins

Adenosylhomocysteinase

Genular Protein ID: 1176955049

Symbol: SAHH_HUMAN

Name: Adenosylhomocysteinase

UniProtKB Accession Codes:

P23526 A8K307 B3KUN3 E1P5P2 F5H737 Q96A36

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

The gene details are incomplete or unavailable at the moment.

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.

Details for: AHCY

Associated with

Other Information

Sequence of full length cDNA for human S-adenosylhomocysteine hydrolase. PubMed ID: 2596825

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence and comparative analysis of human chromosome 20. PubMed ID: 11780052

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Limited proteolysis of S-adenosylhomocysteine hydrolase: implications for the three-dimensional structure. PubMed ID: 7786017

Isozyme and DNA analysis of human S-adenosyl-L-homocysteine hydrolase (AHCY). PubMed ID: 2574561

Photoaffinity labeling of human placental S-adenosylhomocysteine hydrolase with [2-3H]8-azido-adenosine. PubMed ID: 7608178

Substrate binding stabilizes S-adenosylhomocysteine hydrolase in a closed conformation. PubMed ID: 10933798

Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. PubMed ID: 17081065

Initial characterization of the human central proteome. PubMed ID: 21269460

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

Landscape of the regulatory elements for lysine 2-hydroxyisobutyrylation pathway. PubMed ID: 29192674

Structure determination of selenomethionyl S-adenosylhomocysteine hydrolase using data at a single wavelength. PubMed ID: 9586999

Catalytic strategy of S-adenosyl-L-homocysteine hydrolase: transition-state stabilization and the avoidance of abortive reactions. PubMed ID: 12590576

Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis. PubMed ID: 15241484

S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. PubMed ID: 15024124

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

S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man. PubMed ID: 16736098

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

S-adenosylhomocysteine hydrolase (AHCY) deficiency: two novel mutations with lethal outcome. PubMed ID: 19177456

S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes. PubMed ID: 20852937

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. PubMed ID: 22959829

Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency. PubMed ID: 26095522

Mutations in S-adenosylhomocysteine hydrolase (AHCY) affect its nucleocytoplasmic distribution and capability to interact with S-adenosylhomocysteine hydrolase-like 1 protein. PubMed ID: 28647132