Gene Name | NT5C3A |
|
Specie | Homo sapiens | |
Full Name | 5'-nucleotidase, cytosolic IIIA | |
Also known as | NT5C3|P5'N-1|P5N-1|PN-I|POMP|PSN1|UMPH|UMPH1|cN-III|hUMP1|p36 | |
Coordinate | chr7:33014113-33062776 | |
Strand | - | |
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] |
Retroname | Coord | Strand | Genomic Region | ENSG | |
---|---|---|---|---|---|
NT5C3AP1 | chr4:117574493-117576165 | - |
Intergenic |
ENSG00000213492 | UCSC |
>NM_001002010.5 |
GCTTCCGAGACTCGCAGTCTACGCGAGCTGCCTGTTTTTTTCCTGCTTGGACGCGCATGAGGGCCCCGTCCATGGACCgcgcggccgtggcgagggtgggcgcggtagcgagcgccagcgtgtgcgcCCTGGTGGCGGGGGTGGTGCTGGCTCAGTACATATTCACCTTGAAGAGGAAGACGGGGCGGAAGACCAAGATCATCGAGATGATGCCAGAATTCCAGAAAAGTTCAGTTCGAATCAAGAACCCTACAAGAGTAGAAGAAATTATCTGTGGTCTTATCAAAGGAGGAGCTGCCAAACTTCAGATAATAACGGACTTTGATATGACACTCAGTAGATTTTCATATAAAGGGAAAAGATGCCCAACATGTCATAATATCATTGACAACTGTAAGCTGGTTACAGATGAATGTAGAAAAAAGTTATTGCAACTAAAGGAAAAATATTACGCTATTGAAGTTGATCCTGTTCTTACTGTAGAAGAGAAGTACCCTTATATGGTGGAATGGTATACTAAATCACATGGTTTGCTTGTTCAGCAAGCTTTACCAAAAGCTAAACTTAAAGAAATTGTGGCAGAATCTGACGTTATGCTCAAAGAAGGATATGAGAATTTCTTTGATAAGCTCCAACAACATAGCATCCCCGTGTTCATATTTTCGGCTGGAATCGGCGATGTACTAGAGGAAGTTATTCGTCAAGCTGGTGTTTATCATCCCAATGTCAAAGTTGTGTCCAATTTTATGGATTTTGATGAAACTGGGGTGCTCAAAGGATTTAAAGGAGAACTAATTCATGTATTTAACAAACATGATGGTGCCTTGAGGAATACAGAATATTTCAATCAACTAAAAGACAATAGTAACATAATTCTTCTGGGAGACTCCCAAGGAGACTTAAGAATGGCAGATGGAGTGGCCAATGTTGAGCACATTCTGAAAATTGGATATCTAAATGATAGAGTGGATGAGCTTTTAGAAAAGTACATGGACTCTTATGATATTGTTTTAGTACAAGATGAATCATTAGAAGTAGCCAACTCTATTTTACAGAAGATTCTATAAACAAGCATTCTCCAAGAAGACCTCTCTCCTGTGGGTGCAATTGAACTGTTCATCCGTTCATCTTGCTGAGAGACTTATTTATAATATATCCTTACTCTCGAAGTGTTCCCTTTGTATAACTGAAGTATTTTCAGATATGGTGAATGCATTGACTGGAAGCTCCTTTTCTCCACCTCTCTCAACACACTCCTCACCGTATCTTTTAACCCATTTAAAAAAAAAAAAAAGCTAAAATTAGAAAAATAACTCCCTACTTTTCCAAAGTGAATTTTGTAGTTTAATGTTATCATGCAGCTTTTGAGGAGTCTTTTACACTGGGAAAGTTTGTAGAAATTTTAAAATAAGTTTTATGAAATGGTGAAATAATATGCATGATTTTAAGTATTGCCATTTTTGTAATTTGGGTTATTATGCTGATGGTATCACCATCTCTTGAAATTGTGTTAGGTTTGGTTATTTTGTCTGGGGAAAAAATATTTACTGGAAAAGACTAGCAGTTAGTGTTGGAAAAACCTGGTGGTGTTTACAATGTTGCTAATCATTACAAAACATTCTATATTGAAGCACTGATAATAAATATGAAATGCAAAACCTTTTTAA |