• Gene id: 84618

Gene Summary

• Gene Symbol: NT5C1A   Gene   UCSC   Ensembl
• Aliases: CN-I, CN-IA, CN1, CN1A, CNI
• Gene name: 5'-nucleotidase, cytosolic IA
• Alternate names: cytosolic 5'-nucleotidase 1A, AMP-specific 5'-NT, cytosolic 5' nucleotidase, type 1A, cytosolic 5'-nucleotidase IA,
• Gene location: 1p34.2 (39672037: 39659120)     Exons: 6     NC_000001.11
• Gene summary(Entrez): Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008]
• OMIM: 610525

Protein Summary

• Protein general information: Q9BXI3  
  • Name: Cytosolic 5' nucleotidase 1A (cN1A) (EC 3.1.3.5) (Cytosolic 5' nucleotidase IA) (cN I) (cN IA)
  • Length: 368  
  • Mass: 41021
  • Tissue specificity: Highly expressed in skeletal muscle. Detected at intermediate levels in heart, brain, kidney and pancreas. {ECO
• Sequence:

  MEPGQPREPQEPREPGPGAETAAAPVWEEAKIFYDNLAPKKKPKSPKPQNAVTIAVSSRALFRMDEEQQIYTEQG
  VEEYVRYQLEHENEPFSPGPAFPFVKALEAVNRRLRELYPDSEDVFDIVLMTNNHAQVGVRLINSINHYDLFIER
  FCMTGGNSPICYLKAYHTNLYLSADAEKVREAIDEGIAAATIFSPSRDVVVSQSQLRVAFDGDAVLFSDESERIV
  KAHGLDRFFEHEKAHENKPLAQGPLKGFLEALGRLQKKFYSKGLRLECPIRTYLVTARSAASSGARALKTLRSWG
  LETDEALFLAGAPKGPLLEKIRPHIFFDDQMFHVAGAQEMGTVAAHVPYGVAQTPRRTAPAKQAPSAQ

• Structural information:
  • Interpro: IPR010394  
  • STRING: ENSP00000235628
• Other Databases: GeneCards:  NT5C1A  Malacards:  NT5C1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046085	adenosine metabolic process	IBA	biological process
GO:0008253	5'-nucleotidase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0008253	5'-nucleotidase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0009117	nucleotide metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0009117	nucleotide metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0008253	5'-nucleotidase activity	IEA	molecular function
GO:0006195	purine nucleotide catabolic process	TAS	biological process
GO:0046135	pyrimidine nucleoside catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046085	adenosine metabolic process	IEA	biological process
GO:0009128	purine nucleoside monophosphate catabolic process	IEA	biological process
GO:0008253	5'-nucleotidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0009116	nucleoside metabolic process	NAS	biological process
GO:0008253	5'-nucleotidase activity	NAS	molecular function
GO:0005829	cytosol	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00240	Pyrimidine metabolism
hsa00760	Nicotinate and nicotinamide metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq