Human Gene AHCYL1 (ENST00000393614.8) from GENCODE V44
  Description: Homo sapiens adenosylhomocysteinase like 1 (AHCYL1), transcript variant 3, mRNA. (from RefSeq NM_001242674)
RefSeq Summary (NM_001242673): The protein encoded by this gene interacts with inositol 1,4,5-trisphosphate receptor, type 1 and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011].
Gencode Transcript: ENST00000393614.8
Gencode Gene: ENSG00000168710.18
Transcript (Including UTRs)
   Position: hg38 chr1:109,984,765-110,023,741 Size: 38,977 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg38 chr1:110,009,055-110,021,680 Size: 12,626 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:109,984,765-110,023,741)mRNA (may differ from genome)Protein (483 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SAHH2_HUMAN
DESCRIPTION: RecName: Full=Putative adenosylhomocysteinase 2; Short=AdoHcyase 2; EC=3.3.1.1; AltName: Full=DC-expressed AHCY-like molecule; AltName: Full=S-adenosyl-L-homocysteine hydrolase 2; AltName: Full=S-adenosylhomocysteine hydrolase-like protein 1;
CATALYTIC ACTIVITY: S-adenosyl-L-homocysteine + H(2)O = L- homocysteine + adenosine.
COFACTOR: Binds 1 NAD per subunit.
PATHWAY: Amino-acid biosynthesis; L-homocysteine biosynthesis; L- homocysteine from S-adenosyl-L-homocysteine: step 1/1.
SUBUNIT: Interacts with ITPR1. Competes with IP3 for interaction with ITPR1 and attenuates IP3-induced Ca(2+) release through the ITPR1 from the non-mitochondrial intracellular stores (By similarity).
INTERACTION: P04608:tat (xeno); NbExp=5; IntAct=EBI-2371423, EBI-6164389;
SUBCELLULAR LOCATION: Endoplasmic reticulum (By similarity).
TISSUE SPECIFICITY: Expressed in dendritic cells.
DEVELOPMENTAL STAGE: Expression increases markedly during activation of blood and skin DC (Langerhans cells), but is diminished in terminally differentiated tonsil DC.
DOMAIN: The PEST region is essential for the interaction with ITPR1. The PDZ-binding region is required for maximal interaction with ITPR1 and is also responsible for the IP3-insensitive interaction with ITPR1 (By similarity).
SIMILARITY: Belongs to the adenosylhomocysteinase family.
SEQUENCE CAUTION: Sequence=AAC01960.1; Type=Erroneous initiation; Sequence=BI460083; Type=Frameshift; Positions=Several; Sequence=CAB43223.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D015127 9,10-Dimethyl-1,2-benzanthracene
  • D010634 Phenobarbital
  • C404910 2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane
  • C023514 2,6-dinitrotoluene
  • C030370 2-methoxy-5-(2',3',4'-trimethoxyphenyl)tropone
  • C009505 4,4'-diaminodiphenylmethane
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D000082 Acetaminophen
  • D016604 Aflatoxin B1
  • D000393 Air Pollutants
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 107.66 RPKM in Brain - Nucleus accumbens (basal ganglia)
Total median expression: 2277.34 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -390.00800-0.488 Picture PostScript Text
3' UTR -555.402061-0.269 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000043 - Adenosylhomocysteinase
IPR015878 - Ado_hCys_hydrolase_NAD-bd
IPR020082 - S-Ado-L-homoCys_hydrolase_CS

Pfam Domains:
PF05221 - S-adenosyl-L-homocysteine hydrolase
PF00670 - S-adenosyl-L-homocysteine hydrolase, NAD binding domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3MTG - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O43865
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0004013 adenosylhomocysteinase activity

Biological Process:
GO:0006378 mRNA polyadenylation
GO:0006611 protein export from nucleus
GO:0006730 one-carbon metabolic process
GO:0010765 positive regulation of sodium ion transport
GO:0031440 regulation of mRNA 3'-end processing
GO:0032412 regulation of ion transmembrane transporter activity
GO:0033353 S-adenosylmethionine cycle
GO:0038166 angiotensin-activated signaling pathway
GO:0042045 epithelial fluid transport
GO:0044070 regulation of anion transport
GO:0051592 response to calcium ion
GO:1903779 regulation of cardiac conduction

Cellular Component:
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AF315687 - Homo sapiens S-adenosylhomocysteine hydrolase-like protein mRNA, complete cds.
BC111563 - Homo sapiens S-adenosylhomocysteine hydrolase-like 1, mRNA (cDNA clone IMAGE:40001417), partial cds.
BC065254 - Homo sapiens S-adenosylhomocysteine hydrolase-like 1, mRNA (cDNA clone MGC:74635 IMAGE:6138596), complete cds.
BC010681 - Homo sapiens S-adenosylhomocysteine hydrolase-like 1, mRNA (cDNA clone MGC:8936 IMAGE:3853747), complete cds.
JD317627 - Sequence 298651 from Patent EP1572962.
BC016942 - Homo sapiens S-adenosylhomocysteine hydrolase-like 1, mRNA (cDNA clone MGC:21453 IMAGE:3450568), complete cds.
BC095476 - Homo sapiens S-adenosylhomocysteine hydrolase-like 1, mRNA (cDNA clone MGC:111429 IMAGE:6179838), complete cds.
BC007576 - Homo sapiens S-adenosylhomocysteine hydrolase-like 1, mRNA (cDNA clone MGC:15558 IMAGE:3139729), complete cds.
GQ900917 - Homo sapiens clone HEL-T-29 epididymis secretory sperm binding protein mRNA, complete cds.
BC110896 - Homo sapiens S-adenosylhomocysteine hydrolase-like 1, mRNA (cDNA clone MGC:131957 IMAGE:5768161), complete cds.
BC146492 - Synthetic construct Homo sapiens clone IMAGE:100014996, MGC:180171 S-adenosylhomocysteine hydrolase-like 1 (AHCYL1) mRNA, encodes complete protein.
AB527102 - Synthetic construct DNA, clone: pF1KE0352, Homo sapiens AHCYL1 gene for Putative adenosylhomocysteinase 2, without stop codon, in Flexi system.
BC140414 - Synthetic construct Homo sapiens clone IMAGE:100014429, MGC:173163 S-adenosylhomocysteine hydrolase-like 1 (AHCYL1) mRNA, encodes complete protein.
KJ893128 - Synthetic construct Homo sapiens clone ccsbBroadEn_02522 AHCYL1 gene, encodes complete protein.
AK308080 - Homo sapiens cDNA, FLJ98028.
U82761 - Homo sapiens S-adenosyl homocysteine hydrolase homolog (XPVkona) mRNA, complete cds.
CU675713 - Synthetic construct Homo sapiens gateway clone IMAGE:100018355 5' read AHCYL1 mRNA.
DQ891021 - Synthetic construct clone IMAGE:100003651; FLH168590.01X; RZPDo839B0194D S-adenosylhomocysteine hydrolase-like 1 (AHCYL1) gene, encodes complete protein.
DQ894201 - Synthetic construct Homo sapiens clone IMAGE:100008661; FLH168586.01L; RZPDo839B0193D S-adenosylhomocysteine hydrolase-like 1 (AHCYL1) gene, encodes complete protein.
KJ902152 - Synthetic construct Homo sapiens clone ccsbBroadEn_11546 AHCYL1 gene, encodes complete protein.
AK303690 - Homo sapiens cDNA FLJ53266 complete cds, highly similar to Putative adenosylhomocysteinase 2 (EC 3.3.1.1).
AL049954 - Homo sapiens mRNA; cDNA DKFZp564A1523 (from clone DKFZp564A1523).
AK316110 - Homo sapiens cDNA, FLJ79009 complete cds, highly similar to Putative adenosylhomocysteinase 2 (EC 3.3.1.1).
EU831760 - Synthetic construct Homo sapiens clone HAIB:100066789; DKFZo008B0421 S-adenosylhomocysteine hydrolase-like 1 protein (AHCYL1) gene, encodes complete protein.
EU831838 - Synthetic construct Homo sapiens clone HAIB:100066867; DKFZo004B0422 S-adenosylhomocysteine hydrolase-like 1 protein (AHCYL1) gene, encodes complete protein.
AK131563 - Homo sapiens cDNA FLJ16815 fis, clone THYMU3044175, highly similar to Adenosylhomocysteinase (EC 3.3.1.1).
AF035319 - Homo sapiens clone 23931 mRNA, partial cds.
BC003631 - Homo sapiens S-adenosylhomocysteine hydrolase-like 1, mRNA (cDNA clone IMAGE:3010755), partial cds.
AK313392 - Homo sapiens cDNA, FLJ93926, Homo sapiens PRO0233 protein (PRO0233), mRNA.
AF090905 - Homo sapiens clone HQ0233 PRO0233 mRNA, complete cds.
JD559608 - Sequence 540632 from Patent EP1572962.
JD448984 - Sequence 430008 from Patent EP1572962.
JD269892 - Sequence 250916 from Patent EP1572962.
JD372229 - Sequence 353253 from Patent EP1572962.
JD053665 - Sequence 34689 from Patent EP1572962.
JD079331 - Sequence 60355 from Patent EP1572962.
JD113694 - Sequence 94718 from Patent EP1572962.
JD312679 - Sequence 293703 from Patent EP1572962.
JD260673 - Sequence 241697 from Patent EP1572962.
JD247418 - Sequence 228442 from Patent EP1572962.
JD122937 - Sequence 103961 from Patent EP1572962.
JD453538 - Sequence 434562 from Patent EP1572962.
JD193056 - Sequence 174080 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00270 - Cysteine and methionine metabolism
hsa00450 - Selenoamino acid metabolism
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein O43865 (Reactome details) participates in the following event(s):

R-HSA-5226904 AHCYL1:NAD+ binds ITPR1:I(1,3,5)P3 tetramer, inhibiting it
R-HSA-5578775 Ion homeostasis
R-HSA-5576891 Cardiac conduction
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: B4E168, DCAL, ENST00000393614.1, ENST00000393614.2, ENST00000393614.3, ENST00000393614.4, ENST00000393614.5, ENST00000393614.6, ENST00000393614.7, NM_001242674, O43865, Q2TAJ6, Q502W8, Q5VSM0, Q6P171, Q96PK4, Q9UG84, SAHH2_HUMAN, uc010ovw.1, uc010ovw.2, uc010ovw.3, XPVKONA
UCSC ID: ENST00000393614.8
RefSeq Accession: NM_001242673
Protein: O43865 (aka SAHH2_HUMAN or SAH2_HUMAN)
CCDS: CCDS55620.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.