AHCY
Adenosylhomocysteinase
Also known as: AdoHcyase, SAHH, SAHH_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P23526
- Gene
- AHCY
- Ensembl
- ENSG00000101444
- Chromosome
- 20
- Canonical length
- 432 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Cytosol
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
Canonical amino-acid sequenceUniProt
432 residues, UniProt reviewed canonical sequence.
>P23526|AHCY
1 MSDKLPYKVA DIGLAAWGRK ALDIAENEMP GLMRMRERYS ASKPLKGARI AGCLHMTVET
61 AVLIETLVTL GAEVQWSSCN IFSTQDHAAA AIAKAGIPVY AWKGETDEEY LWCIEQTLYF
121 KDGPLNMILD DGGDLTNLIH TKYPQLLPGI RGISEETTTG VHNLYKMMAN GILKVPAINV
181 NDSVTKSKFD NLYGCRESLI DGIKRATDVM IAGKVAVVAG YGDVGKGCAQ ALRGFGARVI
241 ITEIDPINAL QAAMEGYEVT TMDEACQEGN IFVTTTGCID IILGRHFEQM KDDAIVCNIG
301 HFDVEIDVKW LNENAVEKVN IKPQVDRYRL KNGRRIILLA EGRLVNLGCA MGHPSFVMSN
361 SFTNQVMAQI ELWTHPDKYP VGVHFLPKKL DEAVAEAHLG KLNVKLTKLT EKQAQYLGMS
421 CDGPFKPDHY RYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against AHCY can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.22
- Highest tissue expression
- 177 nTPM
Expression across tissuesHPA
Tissue
- liver: 177 nTPM
- pancreas: 154 nTPM
- kidney: 145 nTPM
- esophagus: 137 nTPM
- ovary: 112 nTPM
- skeletal muscle: 104 nTPM
Single-cell type
- tuft cells: 104 nCPM
- colonocytes: 90 nCPM
- late primary spermatocytes: 54 nCPM
- esophageal apical cells: 50 nCPM
- goblet cells: 41 nCPM
- proximal tubule cells: 38 nCPM
Immune cell
- intermediate monocyte: 61 nTPM
- plasmacytoid DC: 55 nTPM
- myeloid DC: 49 nTPM
- non-classical monocyte: 41 nTPM
- classical monocyte: 33 nTPM
- total PBMC: 28 nTPM
Brain region
- choroid plexus: 47 nTPM
- white matter: 45 nTPM
- pons: 43 nTPM
- thalamus: 42 nTPM
- hypothalamus: 41 nTPM
- spinal cord: 41 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about AHCY.
Disease | AllUniProt
Conditions AHCY is implicated in, by any mechanism.
- Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) MIM:613752
Disease | GeneticClinVar
19 pathogenic / likely-pathogenic of 354 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- Inborn genetic diseases
- Rhabdomyolysis
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.62
- gnomAD pLI
- 0.04
- gnomAD missense Z
- 1.55
- DepMap mean gene effect
- -0.49
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- adenosylhomocysteinase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of AHCY in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads AHCY as an antibody target. Whether an autoantibody or antibody against AHCY could matter depends on whether native AHCY is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
AHCY is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label AHCY as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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