NT5C1A 5'-nucleotidase, cytosolic IA [Homo sapiens (human)] - Gene

Summary

Official Symbol: NT5C1Aprovided by HGNC
Official Full Name: 5'-nucleotidase, cytosolic IAprovided by HGNC
Primary source: HGNC:HGNC:17819
See related: Ensembl:ENSG00000116981 MIM:610525; AllianceGenome:HGNC:17819
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CN1; CNI; CN-I; CN1A; CN-IA
Summary: Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008]
Expression: Biased expression in heart (RPKM 3.5), brain (RPKM 1.5) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (39651229..39672107, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (39519647..39541479, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (40116901..40137779, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Anti-NT5c1A Autoantibodies as Biomarkers in Inclusion Body Myositis.
Title: Anti-NT5c1A Autoantibodies as Biomarkers in Inclusion Body Myositis.
NT5C1A is robustly expressed in tumor cells of resected PDAC patients. Moreover, NT5C1A mediates gemcitabine resistance by decreasing the amount of intracellular dFdCTP, leading to reduced tumor cell apoptosis and larger pancreatic tumors in mice.
Title: Cytosolic 5'-nucleotidase 1A is overexpressed in pancreatic cancer and mediates gemcitabine resistance by reducing intracellular gemcitabine metabolites.
Individual missense changes in NT5C1A showed considerable variation in response to the different nucleoside analogs tested.
Title: Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs.
seropositivity to the NT5c1A antibody is associated with greater motor and functional disability in sporadic inclusion body myositis
Title: Seropositivity for NT5c1A antibody in sporadic inclusion body myositis predicts more severe motor, bulbar and respiratory involvement.
Anti-NT5C1A is a common target of circulating autoantibodies in autoimmune diseases.
Title: Cytosolic 5'-Nucleotidase 1A As a Target of Circulating Autoantibodies in Autoimmune Diseases.
NT5C1A suppression promotes AMP-activated protein kinase (AMPK) phosphorylation and metabolism in human and mouse skeletal muscle
Title: Suppression of 5'-nucleotidase enzymes promotes AMP-activated protein kinase (AMPK) phosphorylation and metabolism in human and mouse skeletal muscle.
There was no correlation between expression of cN-I and fiber type.
Title: Expression of cytosolic 5' nucleotidase does not correlate with expression of oxidative metabolism marker: myoglobine in human skeletal muscles.
deoxycytidine kinase, deoxyguanosine kinase, and cytosolic 5'-nucleotidase I are regulated in a cell cycle-dependent manner in MOLT-4 cells
Title: Cell cycle dependent regulation of deoxycytidine kinase, deoxyguanosine kinase, and cytosolic 5'-nucleotidase I activity in MOLT-4 cells.
overexpression of 5'-nucleotidase inhibits Natural Killer cell cytotoxicity to ameliorate rejection after xenotransplantation
Title: Expression of human ecto-5'-nucleotidase in pig endothelium increases adenosine production and protects from NK cell-mediated lysis.

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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

EBI GWAS Catalog

Description
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S1334 (e-PCR)
- UniSTS:149531

NoName (e-PCR)
- UniSTS:481000

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 5'-nucleotidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 5'-nucleotidase activity	IDA Inferred from Direct Assay more info	PubMed
enables 5'-nucleotidase activity	NAS Non-traceable Author Statement more info	PubMed
enables IMP 5'-nucleotidase activity	IDA Inferred from Direct Assay more info	PubMed
enables XMP 5'-nucleosidase activity	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in AMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in IMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in adenosine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in allantoin metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in dAMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in dGMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in nucleoside metabolic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: cytosolic 5'-nucleotidase 1A

Names: 5'-deoxynucleotidase; AMP-specific 5'-NT; cytosolic 5' nucleotidase, type 1A; cytosolic 5'-nucleotidase IA

NP_115915.1

EC 3.1.3.5

EC 3.1.3.89

EC 3.1.3.99

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.