NT5C1A (5'-nucleotidase, cytosolic IA)

Gene

• Entrez ID: 84618
• Gene name: 5'-nucleotidase, cytosolic IA
• Gene symbol: NT5C1A
• Synonyms (NCBI Gene): CN-I, CN-IA, CN1, CN1A, CNI
• Chromosome: 1
• Chromosome location: 1p34.2
• Summary: Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018598	hsa-miR-335-5p	Microarray	18185580
MIRT725290	hsa-miR-574-5p	HITS-CLIP	19536157
MIRT725289	hsa-miR-4284	HITS-CLIP	19536157
MIRT725288	hsa-miR-24-3p	HITS-CLIP	19536157
MIRT725287	hsa-miR-1295a	HITS-CLIP	19536157
MIRT725286	hsa-miR-7977	HITS-CLIP	19536157
MIRT725290	hsa-miR-574-5p	HITS-CLIP	19536157
MIRT725289	hsa-miR-4284	HITS-CLIP	19536157
MIRT725288	hsa-miR-24-3p	HITS-CLIP	19536157
MIRT725287	hsa-miR-1295a	HITS-CLIP	19536157
MIRT725286	hsa-miR-7977	HITS-CLIP	19536157

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000255	Process	Allantoin metabolic process	IDA	11133996
GO:0000287	Function	Magnesium ion binding	IDA	8967393
GO:0000287	Function	Magnesium ion binding	IEA
GO:0002953	Function	5'-deoxynucleotidase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	599155
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	11133996
GO:0005829	Component	Cytosol	NAS	11133996
GO:0005829	Component	Cytosol	TAS
GO:0006196	Process	AMP catabolic process	IDA	11133996
GO:0006204	Process	IMP catabolic process	IDA	11133996
GO:0008253	Function	5'-nucleotidase activity	IBA
GO:0008253	Function	5'-nucleotidase activity	IDA	599155, 8967393, 11133996, 34814800
GO:0008253	Function	5'-nucleotidase activity	IEA
GO:0008253	Function	5'-nucleotidase activity	NAS	11133996
GO:0009116	Process	Nucleoside metabolic process	NAS	11133996
GO:0009117	Process	Nucleotide metabolic process	IEA
GO:0009128	Process	Purine nucleoside monophosphate catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046055	Process	DGMP catabolic process	IDA	11133996
GO:0046059	Process	DAMP catabolic process	IDA	11133996
GO:0046085	Process	Adenosine metabolic process	IBA
GO:0046085	Process	Adenosine metabolic process	IEA

Other IDs

• MIM: 610525
• HGNC: 17819
• e!Ensembl: ENSG00000116981

Protein

• UniProt ID: Q9BXI3
• Protein name: Cytosolic 5'-nucleotidase 1A (cN1A) (EC 3.1.3.5) (EC 3.1.3.89) (EC 3.1.3.99) (5'-deoxynucleotidase) (Cytosolic 5'-nucleotidase IA) (cN-I) (cN-IA)
• Protein function: Catalyzes the hydrolysis of ribonucleotide and deoxyribonucleotide monophosphates, releasing inorganic phosphate and the corresponding nucleoside (PubMed:11133996, PubMed:34814800, PubMed:7599155, PubMed:8967393). AMP is the major substrate but
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06189	5-nucleotidase	81 → 353		Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in skeletal muscle. Detected at intermediate levels in heart, brain, kidney and pancreas. {ECO:0000269|PubMed:11133996, ECO:0000269|PubMed:8967393}.
• Sequence:

  MEPGQPREPQEPREPGPGAETAAAPVWEEAKIFYDNLAPKKKPKSPKPQNAVTIAVSSRA
  LFRMDEEQQIYTEQGVEEYVRYQLEHENEPFSPGPAFPFVKALEAVNRRLRELYPDSEDV
  FDIVLMTNNHAQVGVRLINSINHYDLFIERFCMTGGNSPICYLKAYHTNLYLSADAEKVR
  EAIDEGIAAATIFSPSRDVVVSQSQLRVAFDGDAVLFSDESERIVKAHGLDRFFEHEKAH
  ENKPLAQGPLKGFLEALGRLQKKFYSKGLRLECPIRTYLVTARSAASSGARALKTLRSWG
  LETDEALFLAGAPKGPLLEKIRPHIFFDDQMFHVAGAQEMGTVAAHVPYGVAQTPRRTAP
  AKQAPSAQ

• Sequence length: 368

Pathways

KEGG:

Purine metabolism
Pyrimidine metabolism
Nicotinate and nicotinamide metabolism
Metabolic pathways
Nucleotide metabolism

Reactome:

Pyrimidine catabolism
Purine catabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Autoimmune Diseases	Associate	29363513	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	40721928	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Associate	29363513	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Associate	37884559	★☆☆☆☆ Found in Text Mining only
Leukemia	Associate	26906009	★☆☆☆☆ Found in Text Mining only
Myositis	Associate	29363513	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Associate	29363513, 38043487	★☆☆☆☆ Found in Text Mining only
Polymyositis	Associate	29363513	★☆☆☆☆ Found in Text Mining only
Signs and Symptoms Respiratory	Associate	29363513	★☆☆☆☆ Found in Text Mining only