Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Funding
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Curator Guide
Release Documentation
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Site Search
Community
Contribute Pathway Knowledge
Icon Library
Outreach
Events
Publications
Partners
Contributors
Resources Guide
Download
About
What is Reactome ?
News
Team
Scientific Advisory Board
Funding
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Curator Guide
Release Documentation
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Site Search
Community
Contribute Pathway Knowledge
Icon Library
Outreach
Events
Publications
Partners
Contributors
Resources Guide
Download
Search ...
Go!
AHCY W112* [cytosol]
Stable Identifier
R-HSA-5579042
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
SAH hydrolase
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective AHCY causes HMAHCHD (Homo sapiens)
Defective AHCY does not hydrolyse AdoHcy (Homo sapiens)
AHCY mutants:NAD+ tetramer [cytosol] (Homo sapiens)
AHCY mutants:NAD+ [cytosol] (Homo sapiens)
AHCY mutants [cytosol] (Homo sapiens)
AHCY W112* [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:P23526 AHCY
Gene Names
AHCY, SAHH
Chain
initiator methionine:, chain:2-432
Reference Genes
BioGPS Gene:191 AHCY
COSMIC (genes):AHCY AHCY
CTD Gene:191 AHCY
dbSNP Gene:191 AHCY
ENSEMBL:ENSG00000101444 AHCY
HGNC:343 AHCY
KEGG:hsa:191 AHCY
Monarch:191 AHCY
NCBI Gene:191 AHCY
OMIM:180960 AHCY
UCSC:P23526 AHCY
Reference Transcript
RefSeq:NM_001161766.1 AHCY
RefSeq:NM_000687.3 AHCY
RefSeq:XM_011528659.1 AHCY
RefSeq:XM_017027708.1 AHCY
RefSeq:NM_001322085.1 AHCY
RefSeq:NM_001322084.1 AHCY
RefSeq:XM_017027709.1 AHCY
RefSeq:XM_005260317.2 AHCY
Other Identifiers
11730199_a_at
11745929_a_at
11747783_x_at
16918496
191
200903_PM_s_at
200903_s_at
3903377
3903378
3903379
3903380
3903381
3903382
3903383
3903384
3903385
3903386
3903387
3903388
3903389
3903390
3903391
3903392
3903393
3903395
3903397
3903398
3903399
3903401
40821_at
8065738
A_23_P17575
A_24_P57367
GE58009
GO:0003824
GO:0004013
GO:0005515
GO:0005634
GO:0005737
GO:0005783
GO:0005829
GO:0006730
GO:0006790
GO:0016787
GO:0031410
GO:0033353
GO:0042470
GO:0043226
GO:0070062
HMNXSV003033859
ILMN_1657862
M61832_s_at
PH_hs_0024442
TC20000780.hg
g9951914_3p_a_at
Participates
as a member of
AHCY mutants [cytosol] (Homo sapiens)
Other forms of this molecule
AHCY [cytosol]
AHCY Y143C [cytosol]
Modified Residues
Name
Nonsense mutation at L-tryptophan 112
Coordinate
112
PsiMod
L-tryptophan removal [MOD:01648]
A protein modification that effectively removes or replaces an L-tryptophan.
Disease
Name
Identifier
Synonyms
hypermethioninemia
DOID:0050544
HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
Cross References
Guide to Pharmacology - Targets
1233
OpenTargets
ENSG00000101444
ENSEMBL
ENSP00000217426
,
ENST00000538132
,
ENSP00000442820
,
ENST00000217426
ZINC - Substances
SAHH_HUMAN
ZINC target
P23526
PRO
P23526
GlyGen
P23526
PDB
4PFJ
,
5W4B
,
1LI4
,
4PGF
,
3NJ4
,
4YVF
,
1A7A
,
5W49
HPA
ENSG00000101444-AHCY
Pharos - Targets
P23526
Orphanet
AHCY
ZINC - Predictions - Purchasable
SAHH_HUMAN
HMDB Protein
HMDBP00662
Interactors (7)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q9BV19 CA050
0.923
13
UniProt:Q6AI12 ANR40
0.905
10
UniProt:P13569 CFTR
17
misfolded CFTR [endoplasmic reticulum membrane]
(R-HSA-8868730)
CFTR [endoplasmic reticulum membrane]
(R-HSA-8866837)
CFTR [plasma membrane]
(R-HSA-383188)
CFTR N1303K [plasma membrane]
(R-HSA-5678983)
CFTR F508del [plasma membrane]
(R-HSA-5678978)
CFTR W1282* [plasma membrane]
(R-HSA-5678976)
CFTR G551D [plasma membrane]
(R-HSA-5678977)
CFTR G542* [plasma membrane]
(R-HSA-5678986)
ub-CFTR F508del [endoplasmic reticulum membrane]
(R-HSA-8866842)
ub-CFTR F508del [cytosol]
(R-HSA-8866838)
CFTR F508del [endoplasmic reticulum membrane]
(R-HSA-8866834)
PolyUb-CFTR [endosome membrane]
(R-HSA-6782976)
CFTR [endosome membrane]
(R-HSA-6782965)
CFTR [Golgi-associated vesicle membrane]
(R-HSA-5627079)
CFTR [lysosomal membrane]
(R-HSA-5627279)
PolyUb-CFTR [plasma membrane]
(R-HSA-8867595)
PolyUb-CFTR [clathrin-coated endocytic vesicle membrane]
(R-HSA-8869104)
0.615
15
UniProt:Q92624 APBP2
0.556
3
UniProt:Q8IWL3 HSCB
5
HSCB [mitochondrial matrix]
(R-HSA-1299438)
HSCB(1-30) [mitochondrial matrix]
(R-HSA-8986120)
HSCB(1-235) [mitochondrial inner membrane]
(R-HSA-1299443)
HSCB [mitochondrial inner membrane]
(R-HSA-1299447)
HSCB(1-235) [mitochondrial intermembrane space]
(R-HSA-1299456)
0.547
2
UniProt:O43865 AHCYL1
1
AHCYL1 [endoplasmic reticulum membrane]
(R-HSA-5215973)
0.527
2
UniProt:Q9Q2G4 Q9Q2G4
0.462
2
© 2025
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text