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AHCY adenosylhomocysteinase [ Homo sapiens (human) ]

Gene ID: 191, updated on 12-Aug-2022

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
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Genomic context

See AHCY in Genome Data Viewer
Location:
20q11.22
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (34231981..34311836, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (36003380..36034908, 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 Sharpr-MPRA regulatory region 7536 Neighboring gene agouti signaling protein Neighboring gene exportin for tRNA pseudogene 1 Neighboring gene density regulated re-initiation and release factor pseudogene Neighboring gene itchy E3 ubiquitin protein ligase Neighboring gene cell division cycle 42 pseudogene 1 Neighboring gene microRNA 644a

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 IDA
Inferred from Direct Assay
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_011526961.1
XP_016883198.1
XP_047295918.1

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_012630.2 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, 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
    Q96A36
    UniProtKB/TrEMBL
    A0A384MTQ3
    Conserved Domains (1) summary
    smart00996
    Location:8431
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    Q96A36
    UniProtKB/TrEMBL
    A0A384MTQ3
  2. XM_017027709.3XP_016883198.1  adenosylhomocysteinase isoform X1

    UniProtKB/Swiss-Prot
    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
    36003380..36034908 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)