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AHCY adenosylhomocysteinase [ Homo sapiens (human) ]

Gene ID: 191, updated on 3-Mar-2019

Summary

Official Symbol
AHCYprovided by HGNC
Official Full Name
adenosylhomocysteinaseprovided by HGNC
Primary source
HGNC:HGNC:343
See related
Ensembl:ENSG00000101444 MIM:180960
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SAHH; adoHcyase
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 29.2), thyroid (RPKM 22.9) and 25 other tissues See more
Orthologs

Genomic context

See AHCY in Genome Data Viewer
Location:
20q11.22
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (34235012..34311976, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (32868071..32899608, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S2 pseudogene 1 Neighboring gene agouti signaling protein Neighboring gene exportin for tRNA pseudogene 1 Neighboring gene density regulated re-initiation and release factor pseudogene Neighboring gene uncharacterized LOC107985381 Neighboring gene itchy E3 ubiquitin protein ligase Neighboring gene cell division cycle 42 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat is identified to have a physical interaction with adenosylhomocysteinase (AHCY; SAHH) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with adenosylhomocysteinase (AHCY) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Biological oxidations, organism-specific biosystem (from REACTOME)
    Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
  • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
    Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
  • Cysteine and methionine metabolism, organism-specific biosystem (from KEGG)
    Cysteine and methionine metabolism, organism-specific biosystemCysteine and methionine are sulfur-containing amino acids. Cysteine is synthesized from serine through different pathways in different organism groups. In bacteria and plants, cysteine is converted f...
  • Cysteine and methionine metabolism, conserved biosystem (from KEGG)
    Cysteine and methionine metabolism, conserved biosystemCysteine and methionine are sulfur-containing amino acids. Cysteine is synthesized from serine through different pathways in different organism groups. In bacteria and plants, cysteine is converted f...
  • Folate Metabolism, organism-specific biosystem (from WikiPathways)
    Folate Metabolism, organism-specific biosystem
    Folate Metabolism
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
    Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
  • Metabolism of ingested SeMet, Sec, MeSec into H2Se, organism-specific biosystem (from REACTOME)
    Metabolism of ingested SeMet, Sec, MeSec into H2Se, organism-specific biosystemInorganic (selenite, SeO3(2-); and selenate, SeO4(2-)) and organic (selenocysteine, Sec; and selenomethionine, SeMet) forms of selenium can introduced in the diet where they are transformed into the ...
  • Methionine degradation, organism-specific biosystem (from KEGG)
    Methionine degradation, organism-specific biosystemPathway module; Nucleotide and amino acid metabolism; Cysteine and methionine metabolism
  • Methionine degradation, conserved biosystem (from KEGG)
    Methionine degradation, conserved biosystemPathway module; Nucleotide and amino acid metabolism; Cysteine and methionine metabolism
  • Methylation, organism-specific biosystem (from REACTOME)
    Methylation, organism-specific biosystemMethylation is a common but minor pathway of Phase II conjugation compared to glucuronidation or sulfonation. The cofactor used in methylation conjugation is S-adenosylmethionine (SAM). SAM is the ...
  • One Carbon Metabolism, organism-specific biosystem (from WikiPathways)
    One Carbon Metabolism, organism-specific biosystemThis one-carbon metabolism pathway is centered around folate. Folate has two key carbon-carbon double bonds. Saturating one of them yields dihydrofolate (DHF) and adding an additional molecule of hyd...
  • Phase II conjugation, organism-specific biosystem (from REACTOME)
    Phase II conjugation, organism-specific biosystemPhase II of biotransformation is concerned with conjugation, that is using groups from cofactors to react with functional groups present or introduced from phase I on the compound. The enzymes involv...
  • Selenoamino acid metabolism, organism-specific biosystem (from REACTOME)
    Selenoamino acid metabolism, organism-specific biosystemSelenium (Se) is a trace element essential for the normal function of the body. Selenoamino acids are defined as those amino acids where selenium has been substituted for sulphur. Selenium and sulp...
  • Sulfur amino acid metabolism, organism-specific biosystem (from REACTOME)
    Sulfur amino acid metabolism, organism-specific biosystemThe main sulfur amino acids are methionine, cysteine, homocysteine and taurine. Of these, the first two are proteinogenic.This group of reactions contains all processes that 1) break down sulfur amin...
  • Trans-sulfuration and one carbon metabolism, organism-specific biosystem (from WikiPathways)
    Trans-sulfuration and one carbon metabolism, organism-specific biosystem
    Trans-sulfuration and one carbon metabolism
  • Trans-sulfuration pathway, organism-specific biosystem (from WikiPathways)
    Trans-sulfuration pathway, organism-specific biosystemTrans-sulfuration pathway, the pathway of production of GSH from S-adenosylmethionine (SAMe). Evidences have been showed that this pathway was perturbed in liver toxicity studies.

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAD binding IEA
Inferred from Electronic Annotation
more info
 
adenosylhomocysteinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenosylhomocysteinase activity TAS
Traceable Author Statement
more info
PubMed 
adenyl nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
S-adenosylhomocysteine catabolic process IEA
Inferred from Electronic Annotation
more info
 
S-adenosylmethionine cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chronic inflammatory response to antigenic stimulus IEA
Inferred from Electronic Annotation
more info
 
circadian sleep/wake cycle IEA
Inferred from Electronic Annotation
more info
 
methylation TAS
Traceable Author Statement
more info
 
one-carbon metabolic process IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
sulfur amino acid metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
melanosome IEA
Inferred from Electronic Annotation
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
adenosylhomocysteinase
Names
S-adenosyl-L-homocysteine hydrolase
S-adenosylhomocysteine hydrolase
epididymis secretory sperm binding protein
NP_000678.1
NP_001155238.1
NP_001309013.1
NP_001309014.1
NP_001309015.1
XP_005260374.1
XP_011526958.2
XP_011526959.2
XP_011526960.2
XP_011526961.1
XP_016883197.1
XP_016883198.1
XP_016883199.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012630.2 RefSeqGene

    Range
    5001..36538
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000687.4NP_000678.1  adenosylhomocysteinase isoform 1

    See identical proteins and their annotated locations for NP_000678.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AI057366, AK097610, AK290422
    Consensus CDS
    CCDS13233.1
    UniProtKB/Swiss-Prot
    P23526
    Related
    ENSP00000217426.2, ENST00000217426.6
    Conserved Domains (1) summary
    pfam05221
    Location:6431
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  2. NM_001161766.1NP_001155238.1  adenosylhomocysteinase isoform 2

    See identical proteins and their annotated locations for NP_001155238.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon and uses a downstream AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1. Variants 2, 4 and 5 encode the same isoform (2).
    Source sequence(s)
    AK097610, BC010018, BE785593, DB043400
    Consensus CDS
    CCDS54457.1
    UniProtKB/Swiss-Prot
    P23526
    Related
    ENSP00000442820.1, ENST00000538132.1
    Conserved Domains (1) summary
    pfam05221
    Location:1403
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  3. NM_001322084.1NP_001309013.1  adenosylhomocysteinase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AI057366, AL356299, DB452063
    Consensus CDS
    CCDS54457.1
    UniProtKB/Swiss-Prot
    P23526
    Conserved Domains (1) summary
    pfam05221
    Location:1403
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  4. NM_001322085.1NP_001309014.1  adenosylhomocysteinase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AI057366, AL356299, DB452063
    Consensus CDS
    CCDS54457.1
    UniProtKB/Swiss-Prot
    P23526
    Conserved Domains (1) summary
    pfam05221
    Location:1403
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  5. NM_001322086.1NP_001309015.1  adenosylhomocysteinase isoform 3

    Status: REVIEWED

    Source sequence(s)
    AI057366, AL356299, DB452063
    Conserved Domains (2) summary
    PRK05476
    Location:12428
    PRK05476; S-adenosyl-L-homocysteine hydrolase; Provisional
    pfam05221
    Location:10433
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  6. NM_001362750.1NP_001349679.1  adenosylhomocysteinase isoform 1

    Status: REVIEWED

    Source sequence(s)
    AI057366, AL356299, KF456885
    Consensus CDS
    CCDS13233.1
    Conserved Domains (1) summary
    pfam05221
    Location:6431
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    34235012..34311976 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528657.2XP_011526959.2  adenosylhomocysteinase isoform X1

    Conserved Domains (2) summary
    PRK05476
    Location:12428
    PRK05476; S-adenosyl-L-homocysteine hydrolase; Provisional
    pfam05221
    Location:10433
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  2. XM_017027709.2XP_016883198.1  adenosylhomocysteinase isoform X2

    UniProtKB/Swiss-Prot
    P23526
    Conserved Domains (1) summary
    pfam05221
    Location:6431
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  3. XM_011528658.3XP_011526960.2  adenosylhomocysteinase isoform X1

    Conserved Domains (2) summary
    PRK05476
    Location:12428
    PRK05476; S-adenosyl-L-homocysteine hydrolase; Provisional
    pfam05221
    Location:10433
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  4. XM_011528656.3XP_011526958.2  adenosylhomocysteinase isoform X1

    Conserved Domains (2) summary
    PRK05476
    Location:12428
    PRK05476; S-adenosyl-L-homocysteine hydrolase; Provisional
    pfam05221
    Location:10433
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  5. XM_011528659.1XP_011526961.1  adenosylhomocysteinase isoform X3

    See identical proteins and their annotated locations for XP_011526961.1

    UniProtKB/Swiss-Prot
    P23526
    Conserved Domains (1) summary
    pfam05221
    Location:1403
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  6. XM_017027708.2XP_016883197.1  adenosylhomocysteinase isoform X2

    UniProtKB/Swiss-Prot
    P23526
    Conserved Domains (1) summary
    pfam05221
    Location:6431
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  7. XM_017027710.2XP_016883199.1  adenosylhomocysteinase isoform X4

    UniProtKB/TrEMBL
    Q1RMG2
    Conserved Domains (2) summary
    PRK05476
    Location:1300
    PRK05476; S-adenosyl-L-homocysteine hydrolase; Provisional
    cl21454
    Location:1305
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  8. XM_005260317.2XP_005260374.1  adenosylhomocysteinase isoform X3

    See identical proteins and their annotated locations for XP_005260374.1

    UniProtKB/Swiss-Prot
    P23526
    Conserved Domains (1) summary
    pfam05221
    Location:1403
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
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