AHCYL1 adenosylhomocysteinase like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AHCYL1provided by HGNC
Official Full Name: adenosylhomocysteinase like 1provided by HGNC
Primary source: HGNC:HGNC:344
See related: Ensembl:ENSG00000168710 MIM:607826; AllianceGenome:HGNC:344
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DCAL; IRBIT; PPP1R78; PRO0233; XPVKONA
Summary: 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]
Expression: Ubiquitous expression in brain (RPKM 81.1), duodenum (RPKM 50.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p13.3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (109984765..110023742)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (109994896..110033874)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (110527387..110566364)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NRAS Mutant Dictates AHCYL1-Governed ER Calcium Homeostasis for Melanoma Tumor Growth.
Title: NRAS Mutant Dictates AHCYL1-Governed ER Calcium Homeostasis for Melanoma Tumor Growth.
Unbiased proteomic profiling reveals the IP3R modulator AHCYL1/IRBIT as a novel interactor of microtubule-associated protein tau.
Title: Unbiased proteomic profiling reveals the IP3R modulator AHCYL1/IRBIT as a novel interactor of microtubule-associated protein tau.
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.
Adenosylhomocysteinase like 1 interacts with nonstructural 5A and regulates hepatitis C virus propagation.
Title: Adenosylhomocysteinase like 1 interacts with nonstructural 5A and regulates hepatitis C virus propagation.
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.
in the group receiving postoperative adjuvant chemotherapy, a significant association was found between IRBIT expression and both overall and disease-free survival. IRBIT may be used as a useful predictive marker for chemotherapy.
Title: Low IRBIT Levels Are Associated With Chemo-resistance in Gastric Cancer Patients.
We investigated previously assumed interaction with AHCY-like-1 protein (AHCYL1), a paralog of AHCY. Indeed, significant interaction between both proteins exists. Additionally, silencing AHCYL1 leads to moderate inhibition of nuclear export of endogenous AHCY.
Title: Mutations in S-adenosylhomocysteine hydrolase (AHCY) affect its nucleocytoplasmic distribution and capability to interact with S-adenosylhomocysteine hydrolase-like 1 protein.
We have validated the vectors and confirmed self-association of AHCY, AHCYL1, and galectin-3. In a high-throughput BiFC screen, we identified new AHCY interaction partners: galectin-3 and PUS7L. We also describe additional steps in protein interaction analysis, applied for AHCY-galectin-3 interaction
Title: Combining Unique Multiplex Gateway Cloning and Bimolecular Fluorescence Complementation (BiFC) for High-Throughput Screening of Protein-Protein Interactions.
These results suggest that by inhibiting Bcl2l10 activity and promoting contact between endoplasmic reticulum and mitochondria, IRBIT facilitates massive Ca(2+) transfer to mitochondria and promotes apoptosis.
Title: IRBIT controls apoptosis by interacting with the Bcl-2 homolog, Bcl2l10, and by promoting ER-mitochondria contact.
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.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat modulates IRBIT expression in neuron cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93356 (e-PCR)
- UniSTS:89176

RH101839 (e-PCR)
- UniSTS:49009

SHGC-75272 (e-PCR)
- UniSTS:54203

RH65027 (e-PCR)
- UniSTS:91376

Gene Ontology Provided by GOA

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
enables enzyme regulator activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial fluid transport	IEA Inferred from Electronic Annotation more info
involved_in mitochondrion-endoplasmic reticulum membrane tethering	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in one-carbon metabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of sodium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein export from nucleus	IEA Inferred from Electronic Annotation more info
involved_in regulation of mRNA 3'-end processing	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of monoatomic anion transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of monoatomic ion transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to calcium ion	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity 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 endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in mitochondria-associated endoplasmic reticulum membrane contact site	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: S-adenosylhomocysteine hydrolase-like protein 1

Names: DC-expressed AHCY-like molecule; IP(3)Rs binding protein released with IP(3); S-adenosyl homocysteine hydrolase homolog; S-adenosyl-L-homocysteine hydrolase 2; adenosylhomocysteinase 2; adoHcyase 2; dendritic cell expressed AHCY-like protein; epididymis secretory sperm binding protein; inositol 1,4,5-trisphosphate receptor-binding protein; protein phosphatase 1, regulatory subunit 78; putative adenosylhomocysteinase 2

NP_001229602.1

EC 3.13.2.1

NP_001229603.1

EC 3.13.2.1

NP_001229604.1

EC 3.13.2.1

NP_001229605.1

EC 3.13.2.1

NP_006612.2

EC 3.13.2.1

XP_011538837.1

EC 3.13.2.1

XP_047296068.1

EC 3.13.2.1

XP_054189912.1

EC 3.13.2.1

XP_054189913.1

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.

Genomic

NG_029182.2 RefSeqGene

Range

5002..43979

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001242673.2 → NP_001229602.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform b

See identical proteins and their annotated locations for NP_001229602.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, 4, and 5 all encode the same isoform (b).

Source sequence(s)

AL772411

Consensus CDS

CCDS55620.1

UniProtKB/TrEMBL

Q2NKW8

Related

ENSP00000377238.4, ENST00000393614.8

Conserved Domains (1) summary

smart00996
Location:59 → 482

AdoHcyase; S-adenosyl-L-homocysteine hydrolase
NM_001242674.2 → NP_001229603.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform b

See identical proteins and their annotated locations for NP_001229603.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, 4, and 5 all encode the same isoform (b).

Source sequence(s)

AA427939, AL772411, BK005417

Consensus CDS

CCDS55620.1

UniProtKB/TrEMBL

Q2NKW8

Conserved Domains (1) summary

smart00996
Location:59 → 482

AdoHcyase; S-adenosyl-L-homocysteine hydrolase
NM_001242675.2 → NP_001229604.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform b

See identical proteins and their annotated locations for NP_001229604.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, 4, and 5 all encode the same isoform (b).

Source sequence(s)

AA427939, AK316110, AL049954, AL772411, DC328766

Consensus CDS

CCDS55620.1

UniProtKB/TrEMBL

Q2NKW8

Related

ENSP00000352092.3, ENST00000359172.3

Conserved Domains (1) summary

smart00996
Location:59 → 482

AdoHcyase; S-adenosyl-L-homocysteine hydrolase
NM_001242676.2 → NP_001229605.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform b

See identical proteins and their annotated locations for NP_001229605.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, 4, and 5 all encode the same isoform (b).

Source sequence(s)

AA427939, AK316110, AL772411, DC328766

Consensus CDS

CCDS55620.1

UniProtKB/TrEMBL

Q2NKW8

Conserved Domains (1) summary

smart00996
Location:59 → 482

AdoHcyase; S-adenosyl-L-homocysteine hydrolase
NM_006621.7 → NP_006612.2 S-adenosylhomocysteine hydrolase-like protein 1 isoform a

See identical proteins and their annotated locations for NP_006612.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AL772411

Consensus CDS

CCDS818.1

UniProtKB/Swiss-Prot

B4E168, O43865, Q2TAJ6, Q502W8, Q5VSM0, Q6P171, Q96PK4, Q9UG84

UniProtKB/TrEMBL

A0A024R0A8, A0A384N6B4, Q2NKW8

Related

ENSP00000358814.5, ENST00000369799.10

Conserved Domains (1) summary

smart00996
Location:106 → 529

AdoHcyase; S-adenosyl-L-homocysteine hydrolase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

109984765..110023742

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011540535.3 → XP_011538837.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform X1

UniProtKB/TrEMBL

Q2NKW8

Conserved Domains (2) summary

smart00996
Location:106 → 489

AdoHcyase; S-adenosyl-L-homocysteine hydrolase

PRK05476
Location:104 → 489

PRK05476; S-adenosyl-L-homocysteine hydrolase; Provisional
XM_047440112.1 → XP_047296068.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

109994896..110033874

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333937.1 → XP_054189912.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform X1
XM_054333938.1 → XP_054189913.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform X2