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    AHCY adenosylhomocysteinase [ Homo sapiens (human) ]

    Gene ID: 191, updated on 8-Jul-2021

    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
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    Genomic context

    See AHCY in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (34235012..34311976, complement)
    105.20201022 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 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 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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables adenosylhomocysteinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables adenosylhomocysteinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables adenyl nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in S-adenosylhomocysteine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in S-adenosylmethionine cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in chronic inflammatory response to antigenic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in circadian sleep/wake cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in one-carbon metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuron projection 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_005260374.1
    XP_011526958.2
    XP_011526959.2
    XP_011526960.2
    XP_011526961.1
    XP_016883198.1
    XP_016883199.1

    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_012630.2 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, ENST00000217426.7
      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
      Conserved Domains (1) summary
      smart00996
      Location:8431
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p13 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
      smart00996
      Location:8431
      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
      smart00996
      Location:1403
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
    6. 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
    7. 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
      smart00996
      Location:1403
      AdoHcyase; S-adenosyl-L-homocysteine hydrolase
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