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AHCYL2 adenosylhomocysteinase like 2 [ Homo sapiens (human) ]

Gene ID: 23382, updated on 1-Jun-2020

Summary

Official Symbol
AHCYL2provided by HGNC
Official Full Name
adenosylhomocysteinase like 2provided by HGNC
Primary source
HGNC:HGNC:22204
See related
Ensembl:ENSG00000158467 MIM:616520
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
IRBIT2; ADOHCYASE3
Summary
The protein encoded by this gene acts as a homotetramer and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
Expression
Broad expression in colon (RPKM 37.6), thyroid (RPKM 17.8) and 21 other tissues See more
Orthologs

Genomic context

See AHCYL2 in Genome Data Viewer
Location:
7q32.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (129225030..129430211)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128864855..129070052)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene tetraspanin 33 Neighboring gene RNY1 pseudogene 11 Neighboring gene smoothened, frizzled class receptor Neighboring gene Sharpr-MPRA regulatory region 5606 Neighboring gene uncharacterized LOC105375500 Neighboring gene uncharacterized LOC107986847 Neighboring gene RNA, U7 small nuclear 16 pseudogene Neighboring gene cell division cycle 26 pseudogene 1 Neighboring gene striatin interacting protein 2 Neighboring gene RNA, U1 small nuclear 72, pseudogene Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 3

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

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.
NHGRI GWA Catalog
Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.
NHGRI GWA Catalog
Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21719, KIAA0828

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT adenosylhomocysteinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
S-adenosylmethionine cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
one-carbon metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
adenosylhomocysteinase 3
Names
IP(3)Rs binding protein released with IP(3) 2
S-adenosyl-L-homocysteine hydrolase 3
S-adenosylhomocysteine hydrolase-like 2
long-IRBIT
putative adenosylhomocysteinase 3
NP_001124192.1
NP_001124194.2
NP_001124195.1
NP_056143.1
XP_005250294.1
XP_011514289.1
XP_011514290.1
XP_016867393.1
XP_016867394.1
XP_016867395.1
XP_016867396.1

NCBI Reference Sequences (RefSeq)

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_029180.1 RefSeqGene

    Range
    5017..210198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130720.3NP_001124192.1  adenosylhomocysteinase 3 isoform b

    See identical proteins and their annotated locations for NP_001124192.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AB020635, BC024325, BG700017
    Consensus CDS
    CCDS47706.1
    UniProtKB/Swiss-Prot
    Q96HN2
    Related
    ENSP00000413639.2, ENST00000446544.6
    Conserved Domains (2) summary
    PRK05476
    Location:184604
    PRK05476; S-adenosyl-L-homocysteine hydrolase; Provisional
    pfam05221
    Location:184609
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  2. NM_001130722.3NP_001124194.2  adenosylhomocysteinase 3 isoform c

    See identical proteins and their annotated locations for NP_001124194.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AB020635, AK295851, BC024325
    Consensus CDS
    CCDS47707.2
    UniProtKB/Swiss-Prot
    Q96HN2
    Related
    ENSP00000420801.1, ENST00000490911.5
    Conserved Domains (1) summary
    pfam05221
    Location:82507
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  3. NM_001130723.3NP_001124195.1  adenosylhomocysteinase 3 isoform d

    See identical proteins and their annotated locations for NP_001124195.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AB020635, AK025372, BC024325, DA890615
    Consensus CDS
    CCDS47708.1
    UniProtKB/Swiss-Prot
    Q96HN2
    Related
    ENSP00000420459.1, ENST00000474594.5
    Conserved Domains (1) summary
    smart00996
    Location:84507
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  4. NM_015328.4NP_056143.1  adenosylhomocysteinase 3 isoform a

    See identical proteins and their annotated locations for NP_056143.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AB020635, BC024325
    Consensus CDS
    CCDS5812.1
    UniProtKB/Swiss-Prot
    Q96HN2
    Related
    ENSP00000315931.3, ENST00000325006.7
    Conserved Domains (1) summary
    pfam05221
    Location:185610
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    129225030..129430211
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011906.1XP_016867395.1  adenosylhomocysteinase 3 isoform X2

    Conserved Domains (1) summary
    smart00996
    Location:1403
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  2. XM_017011904.1XP_016867393.1  adenosylhomocysteinase 3 isoform X2

    Conserved Domains (1) summary
    smart00996
    Location:1403
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  3. XM_011515987.2XP_011514289.1  adenosylhomocysteinase 3 isoform X1

    See identical proteins and their annotated locations for XP_011514289.1

    Conserved Domains (1) summary
    pfam05221
    Location:83508
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  4. XM_011515988.2XP_011514290.1  adenosylhomocysteinase 3 isoform X1

    See identical proteins and their annotated locations for XP_011514290.1

    Conserved Domains (1) summary
    pfam05221
    Location:83508
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  5. XM_005250237.1XP_005250294.1  adenosylhomocysteinase 3 isoform X1

    See identical proteins and their annotated locations for XP_005250294.1

    Conserved Domains (1) summary
    pfam05221
    Location:83508
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  6. XM_017011907.1XP_016867396.1  adenosylhomocysteinase 3 isoform X2

    Conserved Domains (1) summary
    smart00996
    Location:1403
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
  7. XM_017011905.2XP_016867394.1  adenosylhomocysteinase 3 isoform X2

    Conserved Domains (1) summary
    smart00996
    Location:1403
    AdoHcyase; S-adenosyl-L-homocysteine hydrolase
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