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中文人类
NT5C3A - 5'-nucleotidase, Cytosolic IIIA
Alias:
p36
PN-I
POMP
PSN1
UMPH
NT5C3
P5N-1
UMPH1
hUMP1
P5'N-1
cN-III
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这个基因编码5'-核苷酸酶家族的成员，该家族催化核苷5'-单磷酸的去磷酸化。编码的蛋白质是嘧啶5'核苷酸酶1型异构酶，并催化嘧啶5'单磷酸的去磷酸化。这个基因的突变是导致由于尿苷5'-单磷酸水解酶缺乏引起的溶血性贫血的原因。已经观察到了这个基因的替代剪接转录变异体，它们编码多种异构体。这个基因的假基因位于染色体3和4的长臂上。[RefSeq，2012年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
NT5C3A Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
