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    AHCY adenosylhomocysteinase [ Homo sapiens (human) ]

    Gene ID: 191, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AHCYprovided by HGNC
    Official Full Name
    adenosylhomocysteinaseprovided by HGNC
    Primary source
    HGNC:HGNC:343
    See related
    Ensembl:ENSG00000101444 MIM:180960; AllianceGenome:HGNC:343
    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
    mouse all
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    Genomic context

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    See AHCY in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (34231981..34311836, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (35953425..36034942, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (32868074..32899608, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12832 Neighboring gene Sharpr-MPRA regulatory region 7536 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32731215-32731715 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:32741705-32742632 Neighboring gene ribosomal protein S2 pseudogene 1 Neighboring gene agouti signaling protein Neighboring gene NANOG hESC enhancer GRCh37_chr20:32819632-32820133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17757 Neighboring gene NANOG hESC enhancer GRCh37_chr20:32830321-32830822 Neighboring gene exportin for tRNA pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17758 Neighboring gene DENR pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17759 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32899404-32900002 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:32916560-32916775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17762 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:32932123-32932286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17764 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:32983653-32983754 Neighboring gene itchy E3 ubiquitin protein ligase Neighboring gene MPRA-validated peak4195 silencer Neighboring gene CDC42 pseudogene 1 Neighboring gene microRNA 644a

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. S-Adenosylhomocysteine hydrolase overexpression in HEK-293 cells: effect on intracellular adenosine levels, cell viability, and DNA methylation. Hermes M, et al. Cell Physiol Biochem, 2008. PMID 18769049
    2. Role of S-adenosylhomocysteine hydrolase in adenosine-induced apoptosis in HepG2 cells. Hermes M, et al. Exp Cell Res, 2007 Jan 15. PMID 17097637
    3. Functional analysis of human S-adenosylhomocysteine hydrolase isoforms SAHH-2 and SAHH-3. Fumić K, et al. Eur J Hum Genet, 2007 Mar. PMID 17164794
    4. Comparative kinetics of cofactor association and dissociation for the human and trypanosomal S-adenosylhomocysteine hydrolases. 1. Basic features of the association and dissociation processes. Li QS, et al. Biochemistry, 2007 May 15. PMID 17447732
    5. Copper ions inhibit S-adenosylhomocysteine hydrolase by causing dissociation of NAD+ cofactor. Li M, et al. Biochemistry, 2007 Oct 16. PMID 17892301

    See all (221) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inhibition of AHCY impedes proliferation and differentiation of mouse and human adipocyte progenitor cells.
      Title: Inhibition of AHCY impedes proliferation and differentiation of mouse and human adipocyte progenitor cells.
    2. Effects of S-Adenosylhomocysteine Hydrolase Downregulation on Wnt Signaling Pathway in SW480 Cells.
      Title: Effects of S-Adenosylhomocysteine Hydrolase Downregulation on Wnt Signaling Pathway in SW480 Cells.
    3. Metabolic profiling stratifies colorectal cancer and reveals adenosylhomocysteinase as a therapeutic target.
      Title: Metabolic profiling stratifies colorectal cancer and reveals adenosylhomocysteinase as a therapeutic target.
    4. Genetic variants in S-adenosyl-methionine synthesis pathway and nonsyndromic cleft lip with or without cleft palate in Chile.
      Title: Genetic variants in S-adenosyl-methionine synthesis pathway and nonsyndromic cleft lip with or without cleft palate in Chile.
    5. Genomic and transcriptomic profiling of hepatoid adenocarcinoma of the stomach.
      Title: Genomic and transcriptomic profiling of hepatoid adenocarcinoma of the stomach.
    6. Novel candidate factors predicting the effect of S-1 adjuvant chemotherapy of pancreatic cancer.
      Title: Novel candidate factors predicting the effect of S-1 adjuvant chemotherapy of pancreatic cancer.
    7. DNA methylation of AHCY may increase the risk of ischemic stroke.
      Title: DNA methylation of AHCY may increase the risk of ischemic stroke.
    8. Proteomics study of colorectal cancer and adenomatous polyps identifies TFR1, SAHH, and HV307 as potential biomarkers for screening.
      Title: Proteomics study of colorectal cancer and adenomatous polyps identifies TFR1, SAHH, and HV307 as potential biomarkers for screening.
    9. CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency.
      Title: CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency.
    10. The values of AHCY and CBS promoter methylation on the diagnosis of cerebral infarction in Chinese Han population.
      Title: The values of AHCY and CBS promoter methylation on the diagnosis of cerebral infarction in Chinese Han population.
    Submit: New GeneRIF Correction See all GeneRIFs (42)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
    MedGen: C3151058 OMIM: 613752 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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 PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables adenosylhomocysteinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables adenosylhomocysteinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables adenosylhomocysteinase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in S-adenosylmethionine cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in one-carbon metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    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
    NP_001349679.1
    XP_011526961.1
    XP_016883198.1
    XP_047295918.1
    XP_054179113.1
    XP_054179114.1
    XP_054179115.1

    NCBI Reference Sequences (RefSeq)

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    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_012630.3 RefSeqGene

      Range
      13481..36568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000687.4 → NP_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
      A8K307, B3KUN3, E1P5P2, F5H737, P23526, Q96A36
      UniProtKB/TrEMBL
      A0A384MTQ3
      Related
      ENSP00000217426.2, ENST00000217426.7
      Conserved Domains (1) summary
      smart00996
      Location:8 → 431
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    2. NM_001161766.2 → NP_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
      smart00996
      Location:1 → 403
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    3. NM_001322084.2 → NP_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
      smart00996
      Location:1 → 403
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    4. NM_001322085.2 → NP_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
      smart00996
      Location:1 → 403
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    5. NM_001322086.2 → NP_001309015.1  adenosylhomocysteinase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AI057366, AL356299, DB452063
      Conserved Domains (2) summary
      PRK05476
      Location:12 → 428
      PRK05476; S-adenosyl-L-homocysteine hydrolase; Provisional
      pfam05221
      Location:10 → 433
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    6. NM_001362750.2 → NP_001349679.1  adenosylhomocysteinase isoform 1

      Status: REVIEWED

      Source sequence(s)
      AI057366, AL356299, KF456885
      Consensus CDS
      CCDS13233.1
      UniProtKB/Swiss-Prot
      A8K307, B3KUN3, E1P5P2, F5H737, P23526, Q96A36
      UniProtKB/TrEMBL
      A0A384MTQ3
      Conserved Domains (1) summary
      smart00996
      Location:8 → 431
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      34231981..34311836 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439962.1 → XP_047295918.1  adenosylhomocysteinase isoform X1

      UniProtKB/Swiss-Prot
      A8K307, B3KUN3, E1P5P2, F5H737, P23526, Q96A36
      UniProtKB/TrEMBL
      A0A384MTQ3

    2. XM_017027709.3 → XP_016883198.1  adenosylhomocysteinase isoform X1

      UniProtKB/Swiss-Prot
      A8K307, B3KUN3, E1P5P2, F5H737, P23526, Q96A36
      UniProtKB/TrEMBL
      A0A384MTQ3
      Conserved Domains (1) summary
      smart00996
      Location:8 → 431
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    3. XM_011528659.2 → XP_011526961.1  adenosylhomocysteinase isoform X2

      See identical proteins and their annotated locations for XP_011526961.1

      UniProtKB/Swiss-Prot
      P23526
      Conserved Domains (1) summary
      smart00996
      Location:1 → 403
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      35953425..36034942 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323138.1 → XP_054179113.1  adenosylhomocysteinase isoform X1

      UniProtKB/Swiss-Prot
      A8K307, B3KUN3, E1P5P2, F5H737, P23526, Q96A36
      UniProtKB/TrEMBL
      A0A384MTQ3

    2. XM_054323139.1 → XP_054179114.1  adenosylhomocysteinase isoform X1

      UniProtKB/Swiss-Prot
      A8K307, B3KUN3, E1P5P2, F5H737, P23526, Q96A36
      UniProtKB/TrEMBL
      A0A384MTQ3

    3. XM_054323140.1 → XP_054179115.1  adenosylhomocysteinase isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P23526.4 GenPept UniProtKB/Swiss-Prot:P23526

    Gene LinkOut

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