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AHCY adenosylhomocysteinase [ Homo sapiens (human) ]

Gene ID: 191, updated on 7-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (34231981..34311836, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (35953425..36034942, complement)
105.20220307 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
  • 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. DNA methylation of AHCY may increase the risk of ischemic stroke. Zhao L, et al. Bosn J Basic Med Sci, 2020 Nov 2. PMID 32020847, Free PMC Article
  2. Identification of AHCY inhibitors using novel high-throughput mass spectrometry. Uchiyama N, et al. Biochem Biophys Res Commun, 2017 Sep 9. PMID 28533090
  3. Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency. Stender S, et al. Mol Genet Metab, 2015 Dec. PMID 26527160, Free PMC Article
  4. Regulation of S-adenosylhomocysteine hydrolase by lysine acetylation. Wang Y, et al. J Biol Chem, 2014 Nov 7. PMID 25248746, Free PMC Article
  5. Overexpression of S-adenosylhomocysteine hydrolase (SAHH) in esophageal squamous cell carcinoma (ESCC) cell lines: effects on apoptosis, migration and adhesion of cells. Li Q, et al. Mol Biol Rep, 2014. PMID 24430301

See all (189) 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_2023_10

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

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