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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]
AHCYL1 (Adenosylhomocysteinase Like 1) is a Protein Coding gene. Diseases associated with AHCYL1 include Intestinal Impaction and Spinocerebellar Ataxia 29. Among its related pathways are DAG and IP3 signaling and RET signaling. Gene Ontology (GO) annotations related to this gene include NAD binding and ketol-acid reductoisomerase activity. An important paralog of this gene is AHCYL2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | IEA | -- |
GO:0004013 | NOT adenosylhomocysteinase activity | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 16769890 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0042802 | identical protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | ISS | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0005829 | cytosol | IBA | 21873635 |
GO:0005886 | plasma membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
|
2 | DAG and IP3 signaling | ||
3 | Antigen activates B Cell Receptor (BCR) leading to generation of second messengers | ||
4 | Cardiac conduction |
.39
|
|
5 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006378 | mRNA polyadenylation | IDA | 19224921 |
GO:0006611 | protein export from nucleus | IEA | -- |
GO:0006730 | one-carbon metabolic process | IEA | -- |
GO:0010765 | positive regulation of sodium ion transport | IMP | 16769890 |
GO:0031440 | regulation of mRNA 3'-end processing | IDA | 19224921 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Adenosine | Approved, Investigational | Pharma | Agonist, Channel blocker | 619 | ||
Water | Approved | Pharma | 0 | |||
s-adenosylhomocysteine | Experimental | Pharma | 0 | |||
Homocysteine | Experimental | Pharma | 0 | |||
NAD | Experimental | Pharma | Agonist, Full agonist, Activator | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
s-adenosylmethionine |
|
485-80-3 |
|
|||
Se-Adenosylselenohomocysteine |
|
|
||||
Selenohomocysteine |
|
29412-93-9 |
|
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP14: |
ExUns: | 14a | · | 14b | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19a | · | 19b | · | 19c | ^ | 20 | ^ | 21a | · | 21b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | |||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||
SP13: | |||||||||||||||||||||||||||
SP14: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AHCYL1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | AHCYL1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | AHCYL1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AHCYL1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AHCYL1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ahcyl1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ahcyl1 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AHCYL1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | AHCYL1 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | ahcyl1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG9977 30 31 32 |
|
ManyToMany | |
Ahcy89E 31 32 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000792 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | ahcy-1 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SAH1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10842 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.13830 30 |
|
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3305044 | CNV | mobile element insertion | 20981092 |
esv3440155 | CNV | insertion | 20981092 |
Disorder | Aliases | PubMed IDs |
---|---|---|
intestinal impaction |
|
|
spinocerebellar ataxia 29 |
|
|
cerebral palsy, ataxic, autosomal recessive |
|
|
gillespie syndrome |
|
|
spinocerebellar ataxia, autosomal recessive 13 |
|
|