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    AHCY adenosylhomocysteinase [ Homo sapiens (human) ]

    Gene ID: 191, updated on 6-Oct-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What'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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_000687.4NP_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
      A8K307, B3KUN3, E1P5P2, F5H737, P23526, Q96A36
      UniProtKB/TrEMBL
      A0A384MTQ3
      Related
      ENSP00000217426.2, ENST00000217426.7
      Conserved Domains (1) summary
      smart00996
      Location:8431
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    2. NM_001161766.2NP_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:1403
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    3. NM_001322084.2NP_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:1403
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    4. NM_001322085.2NP_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:1403
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    5. NM_001322086.2NP_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_001362750.2NP_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:8431
      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_047439962.1XP_047295918.1  adenosylhomocysteinase isoform X1

      UniProtKB/Swiss-Prot
      A8K307, B3KUN3, E1P5P2, F5H737, P23526, Q96A36
      UniProtKB/TrEMBL
      A0A384MTQ3
    2. XM_017027709.3XP_016883198.1  adenosylhomocysteinase isoform X1

      UniProtKB/Swiss-Prot
      A8K307, B3KUN3, E1P5P2, F5H737, P23526, Q96A36
      UniProtKB/TrEMBL
      A0A384MTQ3
      Conserved Domains (1) summary
      smart00996
      Location:8431
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    3. XM_011528659.2XP_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:1403
      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_054323138.1XP_054179113.1  adenosylhomocysteinase isoform X1

      UniProtKB/Swiss-Prot
      A8K307, B3KUN3, E1P5P2, F5H737, P23526, Q96A36
      UniProtKB/TrEMBL
      A0A384MTQ3
    2. XM_054323139.1XP_054179114.1  adenosylhomocysteinase isoform X1

      UniProtKB/Swiss-Prot
      A8K307, B3KUN3, E1P5P2, F5H737, P23526, Q96A36
      UniProtKB/TrEMBL
      A0A384MTQ3
    3. XM_054323140.1XP_054179115.1  adenosylhomocysteinase isoform X2