NT5C1A (5'-nucleotidase, cytosolic IA)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 84618
Gene name 5'-nucleotidase, cytosolic IA
Gene symbol NT5C1A
Synonyms (NCBI Gene)
CN-ICN-IACN1CN1ACNI
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 miRNA information provided by mirtarbase database.
11
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (11)
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (26)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610525 17819 ENSG00000116981
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 368
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Purine metabolism
Pyrimidine metabolism
Nicotinate and nicotinamide metabolism
Metabolic pathways
Nucleotide metabolism 		  Pyrimidine catabolism
Purine catabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Gene miRNA Gene ontology Other IDs Protein Pathways 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)
Show/Hide Unknown Diseases (5)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
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
Show/Hide Text Mining Associations (49)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult type dermatomyositis Dermatomyositis BEFREE 28225510, 28687351, 29922285
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 30709769
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 20571464, 23596012, 29363513, 30837708
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 29363513 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 40721928 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Chronic kidney disease stage 5 Kidney Disease BEFREE 27642059, 29194767
★★★★★
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease BEFREE 25014506
★★★★★
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 28724911
★★★★★
★☆☆☆☆
Found in Text Mining only
Cyclic neutropenia Cyclic Neutropenia BEFREE 22710376
★★★★★
★☆☆☆☆
Found in Text Mining only
Dermatomyositis Dermatomyositis BEFREE 28225510, 28687351, 29922285
★★★★★
★☆☆☆☆
Found in Text Mining only