Human Gene AHCY (ENST00000217426.7_7) from GENCODE V47lift37
  Description: adenosylhomocysteinase, transcript variant 6 (from RefSeq NM_001362750.2)
Gencode Transcript: ENST00000217426.7_7
Gencode Gene: ENSG00000101444.13_10
Transcript (Including UTRs)
   Position: hg19 chr20:32,868,074-32,891,161 Size: 23,088 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr20:32,868,840-32,891,076 Size: 22,237 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:32,868,074-32,891,161)mRNA (may differ from genome)Protein (432 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SAHH_HUMAN
DESCRIPTION: RecName: Full=Adenosylhomocysteinase; Short=AdoHcyase; EC=3.3.1.1; AltName: Full=S-adenosyl-L-homocysteine hydrolase;
FUNCTION: Adenosylhomocysteine is a competitive inhibitor of S- adenosyl-L-methionine-dependent methyl transferase reactions; therefore adenosylhomocysteinase may play a key role in the control of methylations via regulation of the intracellular concentration of adenosylhomocysteine.
CATALYTIC ACTIVITY: S-adenosyl-L-homocysteine + H(2)O = L- homocysteine + adenosine.
COFACTOR: Binds 1 NAD per subunit.
PATHWAY: Amino-acid biosynthesis; L-homocysteine biosynthesis; L- homocysteine from S-adenosyl-L-homocysteine: step 1/1.
SUBUNIT: Homotetramer.
SUBCELLULAR LOCATION: Cytoplasm. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
DISEASE: Defects in AHCY are the cause of 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.
SIMILARITY: Belongs to the adenosylhomocysteinase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AHCY
Diseases sorted by gene-association score: hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase* (1650), hypermethioninemia (38), adenosine deaminase deficiency (14), immunodeficiency due to purine nucleoside phosphorylase deficiency (12), hyperhomocysteinemia (11), combined t cell and b cell immunodeficiency (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 71.25 RPKM in Testis
Total median expression: 1617.06 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.5085-0.276 Picture PostScript Text
3' UTR -262.00766-0.342 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000043 - Adenosylhomocysteinase
IPR015878 - Ado_hCys_hydrolase_NAD-bd
IPR020082 - S-Ado-L-homoCys_hydrolase_CS

Pfam Domains:
PF00670 - S-adenosyl-L-homocysteine hydrolase, NAD binding domain
PF02826 - D-isomer specific 2-hydroxyacid dehydrogenase, NAD binding domain
PF05221 - S-adenosyl-L-homocysteine hydrolase
PF07991 - Acetohydroxy acid isomeroreductase, NADPH-binding domain

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains
52283 - Formate/glycerate dehydrogenase catalytic domain-like
51905 - FAD/NAD(P)-binding domain
52440 - PreATP-grasp domain
52540 - P-loop containing nucleoside triphosphate hydrolases
51971 - Nucleotide-binding domain
51984 - MurCD N-terminal domain
53335 - S-adenosyl-L-methionine-dependent methyltransferases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1A7A - X-ray MuPIT 1LI4 - X-ray MuPIT 3NJ4 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P23526
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
Gene SorterGene Sorter Gene Sorter Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004013 adenosylhomocysteinase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0030554 adenyl nucleotide binding
GO:0042802 identical protein binding
GO:0051287 NAD binding

Biological Process:
GO:0000096 sulfur amino acid metabolic process
GO:0001666 response to hypoxia
GO:0002439 chronic inflammatory response to antigenic stimulus
GO:0006730 one-carbon metabolic process
GO:0007584 response to nutrient
GO:0019510 S-adenosylhomocysteine catabolic process
GO:0032259 methylation
GO:0033353 S-adenosylmethionine cycle
GO:0042745 circadian sleep/wake cycle
GO:0071268 homocysteine biosynthetic process

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0042470 melanosome
GO:0043005 neuron projection
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK097610 - Homo sapiens cDNA FLJ40291 fis, clone TESTI2028384, highly similar to ADENOSYLHOMOCYSTEINASE (EC 3.3.1.1).
LF205971 - JP 2014500723-A/13474: Polycomb-Associated Non-Coding RNAs.
BC010018 - Homo sapiens S-adenosylhomocysteine hydrolase, mRNA (cDNA clone MGC:19639 IMAGE:2905378), complete cds.
BC011606 - Homo sapiens S-adenosylhomocysteine hydrolase, mRNA (cDNA clone MGC:2319 IMAGE:3139231), complete cds.
GQ891428 - Homo sapiens clone HEL-S-149 epididymis secretory sperm binding protein mRNA, complete cds.
M61831 - Human S-adenosylhomocysteine hydrolase (AHCY) mRNA, complete cds.
JD301989 - Sequence 283013 from Patent EP1572962.
M61832 - Human S-adenosylhomocysteine hydrolase (AHCY) mRNA, complete cds.
JD486857 - Sequence 467881 from Patent EP1572962.
JD563695 - Sequence 544719 from Patent EP1572962.
LF350217 - JP 2014500723-A/157720: Polycomb-Associated Non-Coding RNAs.
JD077208 - Sequence 58232 from Patent EP1572962.
JD443730 - Sequence 424754 from Patent EP1572962.
JD045656 - Sequence 26680 from Patent EP1572962.
JD477649 - Sequence 458673 from Patent EP1572962.
AK290422 - Homo sapiens cDNA FLJ76252 complete cds, highly similar to Homo sapiens S-adenosylhomocysteine hydrolase (AHCY), mRNA.
JD203214 - Sequence 184238 from Patent EP1572962.
JD189182 - Sequence 170206 from Patent EP1572962.
BC114924 - Homo sapiens S-adenosylhomocysteine hydrolase, mRNA (cDNA clone MGC:134782 IMAGE:40025256), complete cds.
JD541068 - Sequence 522092 from Patent EP1572962.
LF350221 - JP 2014500723-A/157724: Polycomb-Associated Non-Coding RNAs.
JD224473 - Sequence 205497 from Patent EP1572962.
AK300014 - Homo sapiens cDNA FLJ52743 complete cds, highly similar to Adenosylhomocysteinase (EC 3.3.1.1).
AK316180 - Homo sapiens cDNA, FLJ79079 complete cds, highly similar to Adenosylhomocysteinase (EC 3.3.1.1).
LF350223 - JP 2014500723-A/157726: Polycomb-Associated Non-Coding RNAs.
JD416481 - Sequence 397505 from Patent EP1572962.
KJ890648 - Synthetic construct Homo sapiens clone ccsbBroadEn_00042 AHCY gene, encodes complete protein.
KR710246 - Synthetic construct Homo sapiens clone CCSBHm_00010862 AHCY (AHCY) mRNA, encodes complete protein.
KR710247 - Synthetic construct Homo sapiens clone CCSBHm_00010863 AHCY (AHCY) mRNA, encodes complete protein.
KR710248 - Synthetic construct Homo sapiens clone CCSBHm_00010864 AHCY (AHCY) mRNA, encodes complete protein.
KR710249 - Synthetic construct Homo sapiens clone CCSBHm_00010866 AHCY (AHCY) mRNA, encodes complete protein.
KJ904416 - Synthetic construct Homo sapiens clone ccsbBroadEn_13810 AHCY gene, encodes complete protein.
BT006697 - Homo sapiens S-adenosylhomocysteine hydrolase mRNA, complete cds.
DQ890569 - Synthetic construct clone IMAGE:100003199; FLH164024.01X; RZPDo839B11162D S-adenosylhomocysteine hydrolase (AHCY) gene, encodes complete protein.
DQ891701 - Synthetic construct clone IMAGE:100004331; FLH183996.01X; RZPDo839B01144D S-adenosylhomocysteine hydrolase (AHCY) gene, encodes complete protein.
DQ893730 - Synthetic construct Homo sapiens clone IMAGE:100008190; FLH164020.01L; RZPDo839B11161D S-adenosylhomocysteine hydrolase (AHCY) gene, encodes complete protein.
DQ895397 - Synthetic construct Homo sapiens clone IMAGE:100009857; FLH183992.01L; RZPDo839B01143D S-adenosylhomocysteine hydrolase (AHCY) gene, encodes complete protein.
LF350225 - JP 2014500723-A/157728: Polycomb-Associated Non-Coding RNAs.
LF350228 - JP 2014500723-A/157731: Polycomb-Associated Non-Coding RNAs.
LF350230 - JP 2014500723-A/157733: Polycomb-Associated Non-Coding RNAs.
CU679982 - Synthetic construct Homo sapiens gateway clone IMAGE:100019372 5' read AHCY mRNA.
LF350233 - JP 2014500723-A/157736: Polycomb-Associated Non-Coding RNAs.
JD024272 - Sequence 5296 from Patent EP1572962.
LF350236 - JP 2014500723-A/157739: Polycomb-Associated Non-Coding RNAs.
AK309204 - Homo sapiens cDNA, FLJ99245.
LF350238 - JP 2014500723-A/157741: Polycomb-Associated Non-Coding RNAs.
LF350239 - JP 2014500723-A/157742: Polycomb-Associated Non-Coding RNAs.
JD387446 - Sequence 368470 from Patent EP1572962.
MA585794 - JP 2018138019-A/157720: Polycomb-Associated Non-Coding RNAs.
MA585798 - JP 2018138019-A/157724: Polycomb-Associated Non-Coding RNAs.
MA585800 - JP 2018138019-A/157726: Polycomb-Associated Non-Coding RNAs.
MA585802 - JP 2018138019-A/157728: Polycomb-Associated Non-Coding RNAs.
MA585805 - JP 2018138019-A/157731: Polycomb-Associated Non-Coding RNAs.
MA585807 - JP 2018138019-A/157733: Polycomb-Associated Non-Coding RNAs.
MA585810 - JP 2018138019-A/157736: Polycomb-Associated Non-Coding RNAs.
MA585813 - JP 2018138019-A/157739: Polycomb-Associated Non-Coding RNAs.
MA585815 - JP 2018138019-A/157741: Polycomb-Associated Non-Coding RNAs.
MA585816 - JP 2018138019-A/157742: Polycomb-Associated Non-Coding RNAs.
MA441548 - JP 2018138019-A/13474: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
METHIONINE-DEG1-PWY - L-methionine degradation
PWY-5328 - superpathway of methionine degradation
PWY-6292 - L-cysteine biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein P23526 (Reactome details) participates in the following event(s):

R-HSA-2408532 AdeSeHCys is hydrolysed to SeHCys by AHCY
R-HSA-174401 AHCY:NAD+ tetramer hydrolyses AdoHcy
R-HSA-2408508 Metabolism of ingested SeMet, Sec, MeSec into H2Se
R-HSA-2408522 Selenoamino acid metabolism
R-HSA-156581 Methylation
R-HSA-1614635 Sulfur amino acid metabolism
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-156580 Phase II - Conjugation of compounds
R-HSA-1430728 Metabolism
R-HSA-211859 Biological oxidations

-  Other Names for This Gene
  Alternate Gene Symbols: A8K307, B3KUN3, E1P5P2, ENST00000217426.1, ENST00000217426.2, ENST00000217426.3, ENST00000217426.4, ENST00000217426.5, ENST00000217426.6, F5H737, NM_001362750, P23526, Q96A36, SAHH, SAHH_HUMAN, uc317ctx.1, uc317ctx.2
UCSC ID: ENST00000217426.7_7
RefSeq Accession: NM_000687.4
Protein: P23526 (aka SAHH_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.