AHCY
entrez
191
canonical
uniprot
P23526
canonical
ensembl
ENSG00000101444
resolver
ensp
ENSP00000217426
resolver
ensp
ENSP00000442820
resolver
genesymbol
AHCY
resolver
genesymbol_syn
SAHH
resolver
hgnc
HGNC:343
resolver
uniprot
A0A384MTQ3
resolver
uniprot
A8K307
resolver
uniprot
B3KUN3
resolver
uniprot
E1P5P2
resolver
uniprot
F5H737
resolver
uniprot
Q96A36
resolver
uniprot_entry
A0A384MTQ3_HUMAN
resolver
uniprot_entry
SAHH_HUMAN
resolver
uniprot_sec
A8K307
resolver
uniprot_sec
B3KUN3
resolver
uniprot_sec
E1P5P2
resolver
uniprot_sec
F5H737
resolver
uniprot_sec
Q96A36
resolver
amino_acid_sequence
MSDKLPYKVADIGLAAWGRKALDIAENEMPGLMRMRERYSASKPLKGARIAGCLHMTVETAVLIETLVTLGAEVQWSSCNIFSTQDHAAAAIAKAGIPVYAWKGETDEEYLWCIEQTLYFKDGPLNMILDDGGDLTNLIHTKYPQLLPGIRGISEETTTGVHNLYKMMANGILKVPAINVNDSVTKSKFDNLYGCRESLIDGIKRATDVMIAGKVAVVAGYGDVGKGCAQALRGFGARVIITEIDPINALQAAMEGYEVTTMDEACQEGNIFVTTTGCIDIILGRHFEQMKDDAIVCNIGHFDVEIDVKWLNENAVEKVNIKPQVDRYRLKNGRRIILLAEGRLVNLGCAMGHPSFVMSNSFTNQVMAQIELWTHPDKYPVGVHFLPKKLDEAVAEAHLGKLNVKLTKLTEKQAQYLGMSCDGPFKPDHYRY
uniprot
proteins
disease_involvement
DISEASE: Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]: A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy. {ECO:0000269|PubMed:15024124, ECO:0000269|PubMed:16736098, ECO:0000269|PubMed:16872278, ECO:0000269|PubMed:18211827, ECO:0000269|PubMed:19177456, ECO:0000269|PubMed:20852937, ECO:0000269|PubMed:22959829, ECO:0000269|PubMed:26095522, ECO:0000269|PubMed:28647132}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.13.2.1
uniprot
proteins
function
FUNCTION: Catalyzes the hydrolysis of S-adenosyl-L-homocysteine to form adenosine and homocysteine (PubMed:10933798). Binds copper ions (By similarity). {ECO:0000250|UniProtKB:P50247, ECO:0000269|PubMed:10933798}.
uniprot
proteins
mass_dalton
47716
uniprot
proteins
mutagenesis
MUTAGEN 1..127; /note="Missing: Affects nuclear-cytoplasmic protein distribution resulting in increased protein amount in the nucleus."; /evidence="ECO:0000269|PubMed:28647132"; MUTAGEN 7; /note="Y->F: Does not affect nuclear-cytoplasmic protein distribution resulting in subcellular localization similar to the wild-type protein."; /evidence="ECO:0000269|PubMed:28647132"; MUTAGEN 84; /note="T->A: Severely decreased adenosylhomocysteinase activity."; /evidence="ECO:0000269|PubMed:18211827"; MUTAGEN 84; /note="T->S: Decreased adenosylhomocysteinase activity; when associated with V-89."; /evidence="ECO:0000269|PubMed:18211827"; MUTAGEN 84; /note="T->S: No effect on adenosylhomocysteinase activity."; /evidence="ECO:0000269|PubMed:18211827"; MUTAGEN 89; /note="A->V: Decreased adenosylhomocysteinase activity; when associated with S-84."; /evidence="ECO:0000269|PubMed:18211827"; MUTAGEN 115; /note="E->L: Slightly reduced adenosylhomocysteinase activity."; /evidence="ECO:0000269|PubMed:16872278"; MUTAGEN 365..432; /note="Missing: Affects nuclear-cytoplasmic protein distribution resulting in increased protein amount in the nucleus."; /evidence="ECO:0000269|PubMed:28647132
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid biosynthesis; L-homocysteine biosynthesis; L-homocysteine from S-adenosyl-L-homocysteine: step 1/1.
uniprot
proteins
protein_family
Adenosylhomocysteinase family
uniprot
proteins
pubmed
10933798
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12590576
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15024124
uniprot
proteins
pubmed
15241484
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16736098
uniprot
proteins
pubmed
16872278
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
18211827
uniprot
proteins
pubmed
19177456
uniprot
proteins
pubmed
20852937
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22959829
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2574561
uniprot
proteins
pubmed
2596825
uniprot
proteins
pubmed
26095522
uniprot
proteins
pubmed
28647132
uniprot
proteins
pubmed
29192674
uniprot
proteins
pubmed
7608178
uniprot
proteins
pubmed
7786017
uniprot
proteins
pubmed
9586999
uniprot
proteins
sequence_length
432
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17081065}. Melanosome {ECO:0000269|PubMed:17081065}. Nucleus {ECO:0000269|PubMed:28647132}. Endoplasmic reticulum {ECO:0000269|PubMed:28647132}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
uniprot
proteins