Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol AHCYL1 contributors: mct/npt - updated : 20-08-2015
HGNC name S-adenosylhomocysteine hydrolase-like 1
HGNC id 344
Location 1p13.3      Physical location : 110.527.307 - 110.566.363
Synonym name
  • dendritic cell expressed AHCY-like protein
  • inositol 1,4,5-trisphosphate receptor-binding protein
  • S-adenosyl-L-homocysteine hydrolase 2
  • S-adenosylhomocysteine hydrolase-like protein 1
  • adoHcyase 2
  • Synonym symbol(s) DCAL, IRBIT, PRO0233, XPVKONA, PPP1R78
    EC.number 3.3.1.1
    DNA
    TYPE functioning gene
    STRUCTURE 39.01 kb     17 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    SARS 1p13 seryl-tRNA synthetase CELSR2 1p21.16p13.3 cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) DDA3 1p13.2 differential display and activated by p53 LOC343263 1p13.2 similar to Myosin-binding protein H (MyBP-H) (H-protein) SORT1 1p21.3-p13.1 Sortilin 1 PSMA5 1p13 proteasome (prosome, macropain) subunit, alpha type, 5 LOC388660 1 similar to mitsugumin29 LOC284612 1p13.2 hypothetical protein LOC284612 MGC46534 1p13.2 hypothetical protein MGC46534 FLJ39035 1p13.2 hypothetical protein FLJ39035 KIAA1163 1p13.2 amphoterin-induced gene GPR61 1p13.1 G protein-coupled receptor 61 GNAI3 1p13 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 GNAT2 1p13 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 AMPD2 1p21-p13 adenosine monophosphate deaminase 2 (isoform L) GSTM4 1p13.3 glutathione S-transferase M4 GSTM2 1p13.3 glutathione S-transferase M2 (muscle) GSTM1 1p13.3 glutathione S-transferase M1 GSTM5 1p13.3 glutathione S-transferase M5 GSTM3 1p13.3 glutathione S-transferase M3 (brain) EPS8L3 1p13.2-p11 EPS8-like 3 CSF1 1p21-p13.3 colony stimulating factor 1 (macrophage) AHCYL1 1p12 S-adenosylhomocysteine hydrolase-like 1 PRO0233 1p13.2 PRO0233 protein ALX3 1p23-p21 aristaless-like homeobox 3 LOC164153 1p13.2 similar to RIKEN cDNA 4930522D07 LOC388661 1 LOC388661 LOC388662 1 similar to Orphan sodium- and chloride-dependent neurotransmitter transporter NTT4 KCNC4 1p21 potassium voltage-gated channel, Shaw-related subfamily, member 4 LOC388663 1 LOC388663 RBM15 1p13 RNA binding motif protein 15 SLC16A4 1p13.1 solute carrier family 16 (monocarboxylic acid transporters), member 4 HBXIP 1p13.1 hepatitis B virus x interacting protein PROK1 1p21 prokineticin 1 LOC388664 1 similar to prochymosin KCNA10 1p13.1 potassium voltage-gated channel, shaker-related subfamily, member 10 KCNA2 1p13 potassium voltage-gated channel, shaker-related subfamily, member 2 KCNA3 1p13.3 potassium voltage-gated channel, shaker-related subfamily, member 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 3949 59 530 mainly expressed in glial cells 2009 19220705
    - - - - - mainly expressed in interneurons such as basket cells 2009 19220705
  • retains little ability to interact with ITPR1, ITPR3 (attributable to an inhibitory effect of the Long-IRBIT specific N-terminal appendage, LISN domain)
  • underwent phosphorylation during neuronal differentiation in neuroblastoma cells and this phosphorylation was dependent on the LISN domain
  • 17 - 4320 - 483 - 2009 19220705
    18 - 3690 - 483 - 2009 19220705
    17 - 4044 - 483 - 2009 19220705
    17 - 4033 - 483 - 2009 19220705
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
    Endocrinepancreas   highly
    Nervousbrain   highly
    Urinarykidneytubuleconvoluted tubuleproximal tubulehighly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunedendritic cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • in the N-terminal, a 104 AAs appendage containing
  • a PEST motif (Pro-Glu-Ser-Thr) domain with many putative phosphorylation sites and a PDZ-ligand critical for the interaction with the ITPR1, and phosphorylation of serines in the N-terminal PEST motif is shown to be required for its binding to SLC4A4
  • a unique hydrophilic domain (106 AA)
  • a domain (424 aa) similar to the methylation pathway enzyme S-adenosylhomocysteine hydrolase (AHCY) (Dekker 2002)
  • an IRBIT domain serving as an anchor for targeting AHCY-like proteins towards cytoplasmic targets (Devogelaere 2008)
  • characteristic serine-rich region that plays a critical role in the functions of this protein
  • a domain homologous to S-adenosylhomocysteine hydrolase in the C-terminal
  • HOMOLOGY
    interspecies
    intraspecies homolog to AHCYL2
    Homologene
    FAMILY
  • S-adenosylhomocysteine hydrolase family
  • AHCY-like proteins family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • acting as a signaling molecule downstream from inositol 1,4,5-trisphosphate (IP(3)) receptor (ITPR1)
  • important enzyme for metabolizing S-adenosyl-l-homocysteine, the by-product of S-adenosyl-l-homomethionine-dependent methylation
  • has a different function from AHCY and plays an important role in embryogenesis by modulating inositol 1,4,5-trisphosphate receptor function for the intracellular calcium release
  • having an importanrt role in the regulation of intracellular and extracellular pH through SLC4A4
  • may have a role in controlling critical events in dendritic cells differentiation (Dekker 2002)
  • may be a cytosolic factor that modulates the apparent affinity for Mg2+ intracellular in inhibition of SLC4A in mammalian cells
  • potential role in releasing Mg2+ intracellular inhibition of SLC4A4 and thus may provide an insight into the mechanism(s) in controlling and diversifying SLC4A4 activity in mammalian cells
  • regulates IP(3)-induced Ca(2+) release into the cytoplasm of cells
  • suppresses CAMK2A activity and contributes to catecholamine homeostasis through tyrosine hydroxylase (TH) phosphorylation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    sulfur aminoacids, activated methyl cycle
    a component
    INTERACTION
    DNA
    RNA
    small molecule
  • binds 1 NAD per subunit
  • protein
  • can directly interact with the ITPR1, and both the suppressor domain and the IP3-binding core of the ITPR1 are essential for a strong interaction
  • binds to and activates pancreas-type Na+/HCO3- cotransporter 1 (SLC4A4)
  • binds to the inositol 1,4,5-trisphosphate receptor, suggesting that AHCYL1 is involved in intracellular calcium release
  • interacting with ITPR1, ITPR3, interaction regulated by protein phosphatase-1 (its phosphorylation is essential for this interaction) (Devogelaere 2007)
  • target molecule of SLC4A4 and has an important role in pH regulation through SLC4A4 (Shirakabe 2006)
  • plays an important role in pHi regulation, mediated by SLC9A3, and further regulated by STK39
  • binding protein of the intracellular Ca(2+) channel inositol 1,4,5-trisphosphate (IP3) receptor and functions as an inhibitory regulator of this receptor
  • CAMK2A is an AHCYL1-interacting molecule in the central nervous system (binds to and suppresses CAMK2A kinase activity by inhibiting the binding of calmodulin to CAMK2A)
  • cell & other
    REGULATION
    activated by markedly during activation of blood and skin dendritic cells (Langerhans cells) (Dekker 2002)
    repressed by in terminally differentiated tonsil dendritic cells (Dekker 2002)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking Irbit present with elevated catecholamine levels, increased locomotor activity, and social abnormalities