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GENE INFORMATION

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Gene name

NT5C3 (HGNC Symbol)

Synonyms

cN-III, P5'N-1, PN-I, PSN1, UMPH, UMPH1

Description

5'-nucleotidase, cytosolic III (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012]

Chromosome

7 (Chromosome progress)

Cytoband

p14.3

Chromosome location (bp)

33053742 - 33102409

Ensembl

ENSG00000122643 (version 69.37)

Entrez gene

51251

UniProt

Q9H0P0

neXtProt

NX_Q9H0P0

Antibodypedia

NT5C3 antibodies
 

PROTEIN VIEW

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NT5C3-001
 
NT5C3-002
 
NT5C3-003
 
NT5C3-004
 
NT5C3-008
 
NT5C3-010
 
NT5C3-201
 
NT5C3-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NT5C3-001 ENSP00000242210
ENST00000242210
Q9H0P0
Show all »
Show » Show » 336 37.9 Yes 0
NT5C3-002 ENSP00000389676
ENST00000456458
F8WDR0
Show all »
Show » 82 8.9 No 0
NT5C3-003 ENSP00000387166
ENST00000409467
Q9H0P0
Show all »
Show » Show » 285 32.6 No 0
NT5C3-004 ENSP00000379456
ENST00000396152
Q9H0P0
Show all »
Show » Show » 297 33.9 No 0
NT5C3-008 ENSP00000387205
ENST00000409787
B9A035
Show all »
Show » 205 23.5 No 0
NT5C3-010 ENSP00000401161
ENST00000449201
C9K084
Show all »
Show » 42 4.7 No 0
NT5C3-201 ENSP00000371039
ENST00000381626
Q9H0P0
Show all »
Show » Show » 285 32.6 No 0
NT5C3-202 ENSP00000385261
ENST00000405342
Q9H0P0
Show all »
Show » Show » 297 33.9 No 0