Ahcyl1 S-adenosylhomocysteine hydrolase-like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ahcyl1provided by MGI
Official Full Name: S-adenosylhomocysteine hydrolase-like 1provided by MGI
Primary source: MGI:MGI:2385184
See related: Ensembl:ENSMUSG00000027893 AllianceGenome:MGI:2385184
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: DCAL; Irbit; Ahcy-rs3; 1110034F20Rik
Summary: Enables enzyme regulator activity. Involved in epithelial fluid transport. Acts upstream of or within several processes, including protein export from nucleus; regulation of mRNA 3'-end processing; and regulation of monoatomic ion transport. Located in cytosol and intracellular membrane-bounded organelle. Is expressed in several structures, including alimentary system; integumental system; nervous system; respiratory system; and sensory organ. Orthologous to human AHCYL1 (adenosylhomocysteinase like 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in cerebellum adult (RPKM 80.6), cortex adult (RPKM 64.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F2.3; 3 46.83 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (107570436..107603876, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (107663120..107696560, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Synaptic plasticity in hippocampal CA1 neurons of mice lacking inositol-1,4,5-trisphosphate receptor-binding protein released with IP3 (IRBIT).
Title: Synaptic plasticity in hippocampal CA1 neurons of mice lacking inositol-1,4,5-trisphosphate receptor-binding protein released with IP(3) (IRBIT).
Both IRBIT and long-IRBIT bind to and coordinately regulate Cl(-)/HCO3(-) exchanger AE2 activity through modulating the lysosomal degradation of AE2.
Title: Both IRBIT and long-IRBIT bind to and coordinately regulate Cl(-)/HCO(3)(-) exchanger AE2 activity through modulating the lysosomal degradation of AE2.
IRBIT controlled five phosphorylation sites in NBCe1-B that determined both the active conformation of the transporter and its regulation by Cl(-)
Title: Modulation of Cl(-) signaling and ion transport by recruitment of kinases and phosphatases mediated by the regulatory protein IRBIT.
NHERF1 mediates ANG II-induced activation of renal NHE3, which requires coordination between IRBIT and the NHERF1 PDZ1 domain in binding and transporting NHE3
Title: The NHERF1 PDZ1 domain and IRBIT interact and mediate the activation of Na+/H+ exchanger 3 by ANG II.
IRBIT forms signaling complexes with PIPKIalpha and NBCe1-B, whose activity is regulated by PI(4,5)P2.
Title: IRBIT Interacts with the Catalytic Core of Phosphatidylinositol Phosphate Kinase Type Iα and IIα through Conserved Catalytic Aspartate Residues.
IRBIT suppresses CaMKIIalpha activity and contributes to catecholamine homeostasis through TH phosphorylation.
Title: IRBIT regulates CaMKIIα activity and contributes to catecholamine homeostasis through tyrosine hydroxylase phosphorylation.
Irbit was sequestered by InsP3 receptors (IP3Rs) in the endoplasmic reticulum
Title: Irbit mediates synergy between ca(2+) and cAMP signaling pathways during epithelial transport in mice.
IRBIT opposes the effects of WNKs and SPAK by recruiting PP1 to the complex to dephosphorylate CFTR and NBCe1-B, restoring their cell surface expression, in addition to stimulating their activities
Title: IRBIT governs epithelial secretion in mice by antagonizing the WNK/SPAK kinase pathway.
Results sugest that IRBIT modulates the polyadenylation state of specific mRNAs, both by controlling the cytoplasmic/nuclear partitioning of Fip1 and by inhibiting PAP activity, in response to a stimulus that alters its phosphorylation state.
Title: Inositol 1,4,5-triphosphate receptor-binding protein released with inositol 1,4,5-triphosphate (IRBIT) associates with components of the mRNA 3' processing machinery in a phosphorylation-dependent manner and inhibits polyadenylation.
Data show that pNBC1 activation requires the IRBIT PEST domain, while CFTR activation requires multiple domains, and suggest that IRBIT is a key coordinator of epithelial fluid and HCO3- secretion.
Title: IRBIT coordinates epithelial fluid and HCO3- secretion by stimulating the transporters pNBC1 and CFTR in the murine pancreatic duct.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124459 (e-PCR)
- UniSTS:161281

RH125828 (e-PCR)
- UniSTS:162572

Ahcyl1 (e-PCR), detects polymorphism
- UniSTS:546640

R75258 (e-PCR)
- UniSTS:125539

Ahcy-rs3 (e-PCR), detects polymorphism
- UniSTS:141054

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
NOT enables adenosylhomocysteinase activity	IBA Inferred from Biological aspect of Ancestor more info
NOT enables adenosylhomocysteinase activity	IDA Inferred from Direct Assay more info	PubMed
enables enzyme regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in S-adenosylmethionine cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in angiotensin-activated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in angiotensin-activated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial fluid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrion-endoplasmic reticulum membrane tethering	ISO Inferred from Sequence Orthology more info
involved_in mitochondrion-endoplasmic reticulum membrane tethering	ISS Inferred from Sequence or Structural Similarity more info
involved_in one-carbon metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of sodium ion transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of sodium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein export from nucleus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of mRNA 3'-end processing	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mRNA 3'-end processing	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of monoatomic anion transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of monoatomic ion transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of monoatomic ion transmembrane transporter activity	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of monoatomic ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
involved_in response to calcium ion	IEA Inferred from Electronic Annotation more info
involved_in response to calcium ion	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondria-associated endoplasmic reticulum membrane contact site	ISO Inferred from Sequence Orthology more info
located_in mitochondria-associated endoplasmic reticulum membrane contact site	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: S-adenosylhomocysteine hydrolase-like protein 1

Names: IP3R binding protein released with inositol 1,4,5-trisphosphate; S-adenosyl-L-homocysteine hydrolase 2; S-adenosylhomocysteine hydrolase, related sequence 3; adoHcyase 2; putative adenosylhomocysteinase 2

NP_001344039.1

EC 3.13.2.1

NP_001344040.1

EC 3.13.2.1

NP_001344041.1

EC 3.13.2.1

NP_001344042.1

EC 3.13.2.1

NP_663517.2

EC 3.13.2.1

XP_030108450.1

EC 3.13.2.1

XP_030108451.1

EC 3.13.2.1

XP_030108452.1

EC 3.13.2.1

XP_030108453.1

EC 3.13.2.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001357110.1 → NP_001344039.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC122902, AC140786, BQ176498

UniProtKB/TrEMBL

Q80TQ9

Conserved Domains (1) summary

smart00996
Location:59 → 482

AdoHcyase; S-adenosyl-L-homocysteine hydrolase
NM_001357111.1 → NP_001344040.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC122902, AC140786, BQ176498

Conserved Domains (1) summary

cl21454
Location:2 → 312

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_001357112.1 → NP_001344041.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC122902, AC140786, BQ176498

Conserved Domains (1) summary

cl21454
Location:2 → 312

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_001357113.1 → NP_001344042.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform 4

Status: VALIDATED

Source sequence(s)

AC122902, AC140786, BQ176498

Conserved Domains (1) summary

cl21454
Location:21 → 288

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_145542.4 → NP_663517.2 S-adenosylhomocysteine hydrolase-like protein 1 isoform 1

See identical proteins and their annotated locations for NP_663517.2

Status: VALIDATED

Source sequence(s)

AB092504, AC122902, AC140786, AK004088, BQ176498, CJ162898

Consensus CDS

CCDS38593.1

UniProtKB/Swiss-Prot

Q80SW1

UniProtKB/TrEMBL

Q80TQ9

Related

ENSMUSP00000029490.9, ENSMUST00000029490.15

Conserved Domains (1) summary

smart00996
Location:106 → 529

AdoHcyase; S-adenosyl-L-homocysteine hydrolase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

107570436..107603876 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030252590.2 → XP_030108450.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform X1

Conserved Domains (1) summary

cl21454
Location:21 → 288

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
XM_030252592.2 → XP_030108452.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform X1

Conserved Domains (1) summary

cl21454
Location:21 → 288

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
XM_030252593.2 → XP_030108453.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform X1

Conserved Domains (1) summary

cl21454
Location:21 → 288

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
XM_030252591.2 → XP_030108451.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform X2

Conserved Domains (1) summary

cl21454
Location:21 → 288

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins