AHCYL1 (adenosylhomocysteinase like 1)

2012-12-01  

Identity

HGNC
AHCYL1
LOCATION
1p13.3
LOCUSID
10768
ALIAS
DCAL,IRBIT,PPP1R78,PRO0233,XPVKONA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10768
MIM: 607826
HGNC: 344
Ensembl: ENSG00000168710

Variants:

dbSNP: 10768
ClinVar: 10768
TCGA: ENSG00000168710
COSMIC: AHCYL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168710ENST00000359172O43865
ENSG00000168710ENST00000369799O43865
ENSG00000168710ENST00000369799A0A024R0A8
ENSG00000168710ENST00000393614O43865

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cysteine and methionine metabolismKEGGko00270
Cysteine and methionine metabolismKEGGhsa00270
Metabolic pathwaysKEGGhsa01100
Methionine degradationKEGGhsa_M00035
Methionine degradationKEGGM00035
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Signaling by the B Cell Receptor (BCR)REACTOMER-HSA-983705
Antigen activates B Cell Receptor (BCR) leading to generation of second messengersREACTOMER-HSA-983695
Innate Immune SystemREACTOMER-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosisREACTOMER-HSA-2029480
Role of phospholipids in phagocytosisREACTOMER-HSA-2029485
DAP12 interactionsREACTOMER-HSA-2172127
DAP12 signalingREACTOMER-HSA-2424491
DAG and IP3 signalingREACTOMER-HSA-1489509
Fc epsilon receptor (FCERI) signalingREACTOMER-HSA-2454202
FCERI mediated Ca+2 mobilizationREACTOMER-HSA-2871809
C-type lectin receptors (CLRs)REACTOMER-HSA-5621481
CLEC7A (Dectin-1) signalingREACTOMER-HSA-5607764
CLEC7A (Dectin-1) induces NFAT activationREACTOMER-HSA-5607763
Signal TransductionREACTOMER-HSA-162582
Signaling by EGFRREACTOMER-HSA-177929
EGFR interacts with phospholipase C-gammaREACTOMER-HSA-212718
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
PLC-gamma1 signallingREACTOMER-HSA-167021
Signaling by PDGFREACTOMER-HSA-186797
Downstream signal transductionREACTOMER-HSA-186763
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
VEGFR2 mediated cell proliferationREACTOMER-HSA-5218921
Signaling by GPCRREACTOMER-HSA-372790
Opioid SignallingREACTOMER-HSA-111885
G-protein mediated eventsREACTOMER-HSA-112040
PLC beta mediated eventsREACTOMER-HSA-112043
Muscle contractionREACTOMER-HSA-397014
MetabolismREACTOMER-HSA-1430728
Integration of energy metabolismREACTOMER-HSA-163685
Regulation of insulin secretionREACTOMER-HSA-422356
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382946922024NRAS Mutant Dictates AHCYL1-Governed ER Calcium Homeostasis for Melanoma Tumor Growth.0
382946922024NRAS Mutant Dictates AHCYL1-Governed ER Calcium Homeostasis for Melanoma Tumor Growth.0
352187732022Unbiased proteomic profiling reveals the IP3R modulator AHCYL1/IRBIT as a novel interactor of microtubule-associated protein tau.2
352187732022Unbiased proteomic profiling reveals the IP3R modulator AHCYL1/IRBIT as a novel interactor of microtubule-associated protein tau.2
333558892021Adenosylhomocysteinase like 1 interacts with nonstructural 5A and regulates hepatitis C virus propagation.2
337276332021Both IRBIT and long-IRBIT bind to and coordinately regulate Cl(-)/HCO(3)(-) exchanger AE2 activity through modulating the lysosomal degradation of AE2.3
333558892021Adenosylhomocysteinase like 1 interacts with nonstructural 5A and regulates hepatitis C virus propagation.2
337276332021Both IRBIT and long-IRBIT bind to and coordinately regulate Cl(-)/HCO(3)(-) exchanger AE2 activity through modulating the lysosomal degradation of AE2.3
313664952019Low IRBIT Levels Are Associated With Chemo-resistance in Gastric Cancer Patients.2
313664952019Low IRBIT Levels Are Associated With Chemo-resistance in Gastric Cancer Patients.2
303772242018Modulation of Cl(-) signaling and ion transport by recruitment of kinases and phosphatases mediated by the regulatory protein IRBIT.7
303772242018Modulation of Cl(-) signaling and ion transport by recruitment of kinases and phosphatases mediated by the regulatory protein IRBIT.7
286471322017Mutations in S-adenosylhomocysteine hydrolase (AHCY) affect its nucleocytoplasmic distribution and capability to interact with S-adenosylhomocysteine hydrolase-like 1 protein.7
286471322017Mutations in S-adenosylhomocysteine hydrolase (AHCY) affect its nucleocytoplasmic distribution and capability to interact with S-adenosylhomocysteine hydrolase-like 1 protein.7
274559932016Combining Unique Multiplex Gateway Cloning and Bimolecular Fluorescence Complementation (BiFC) for High-Throughput Screening of Protein-Protein Interactions.7

Citation

Dessen P

AHCYL1 (adenosylhomocysteinase like 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53083/gene-fusions-explorer/css/lib/js/gene-explorer/