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NT5C3A 5'-nucleotidase, cytosolic IIIA [ Homo sapiens (human) ]

Gene ID: 51251, updated on 8-May-2016
Official Symbol
NT5C3Aprovided by HGNC
Official Full Name
5'-nucleotidase, cytosolic IIIAprovided by HGNC
Primary source
HGNC:HGNC:17820
See related
Ensembl:ENSG00000122643 HPRD:05871; MIM:606224; Vega:OTTHUMG00000152983
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p36; PN-I; POMP; PSN1; UMPH; NT5C3; P5N-1; UMPH1; hUMP1; P5'N-1; cN-III
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]
Orthologs
Location:
7p14.3
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (33014113..33062797, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (33053725..33102409, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene retinitis pigmentosa 9 pseudogene Neighboring gene FK506 binding protein 9 Neighboring gene ribosomal protein S29 pseudogene 14 Neighboring gene retinitis pigmentosa 9 (autosomal dominant) Neighboring gene RNA, 5S ribosomal pseudogene 229 Neighboring gene Bardet-Biedl syndrome 9

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC27337, MGC87109, MGC87828

Gene Ontology Provided by GOA

Function Evidence Code Pubs
2'-phosphotransferase activity NAS
Non-traceable Author Statement
more info
PubMed 
2'-phosphotransferase activity TAS
Traceable Author Statement
more info
PubMed 
5'-nucleotidase activity EXP
Inferred from Experiment
more info
PubMed 
5'-nucleotidase activity IDA
Inferred from Direct Assay
more info
PubMed 
5'-nucleotidase activity NAS
Non-traceable Author Statement
more info
PubMed 
magnesium ion binding NAS
Non-traceable Author Statement
more info
PubMed 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
adenosine metabolic process IEA
Inferred from Electronic Annotation
more info
 
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
nucleotide metabolic process IEA
Inferred from Electronic Annotation
more info
 
pyrimidine nucleoside catabolic process TAS
Traceable Author Statement
more info
 
pyrimidine nucleoside metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
cytosolic 5'-nucleotidase 3A
Names
5'-nucleotidase, cytosolic III
7-methylguanosine nucleotidase
7-methylguanosine phosphate-specific 5'-nucleotidase
cytosolic 5'-nucleotidase 3
lupin
pyrimidine 5'-nucleotidase 1
uridine 5'-monophosphate hydrolase 1
NP_001002009.1
NP_001002010.1
NP_001159590.1
NP_057573.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015800.1 RefSeqGene

    Range
    26633..53685
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001002009.2NP_001002009.1  cytosolic 5'-nucleotidase 3A isoform 2

    See identical proteins and their annotated locations for NP_001002009.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate internal exon in the 5' region and initiates translation at an alternate start codon, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AA482595, BC066914, BC071652, CB127255, DB346026
    UniProtKB/Swiss-Prot
    Q9H0P0
    UniProtKB/TrEMBL
    A0A024RA81
    Related
    ENSP00000385261, ENST00000405342
    Conserved Domains (1) summary
    TIGR01544
    Location:16296
    HAD-SF-IE; haloacid dehalogenase superfamily, subfamily IE hydrolase, TIGR01544
  2. NM_001002010.2NP_001002010.1  cytosolic 5'-nucleotidase 3A isoform 1

    See identical proteins and their annotated locations for NP_001002010.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AA482595, BC071652, CB127255, DB346026
    Consensus CDS
    CCDS34616.1
    UniProtKB/Swiss-Prot
    Q9H0P0
    Related
    ENSP00000484415, ENST00000620705
    Conserved Domains (1) summary
    TIGR01544
    Location:55335
    HAD-SF-IE; haloacid dehalogenase superfamily, subfamily IE hydrolase, TIGR01544
  3. NM_001166118.2NP_001159590.1  cytosolic 5'-nucleotidase 3A isoform 3

    See identical proteins and their annotated locations for NP_001159590.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, includes two alternate internal exons, and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AA482595, BC071652, DA975244, DB243020, DB346026
    Consensus CDS
    CCDS55101.1
    UniProtKB/Swiss-Prot
    Q9H0P0
    UniProtKB/TrEMBL
    A0A090N7U2
    Related
    ENSP00000371039, ENST00000381626
    Conserved Domains (1) summary
    TIGR01544
    Location:4284
    HAD-SF-IE; haloacid dehalogenase superfamily, subfamily IE hydrolase, TIGR01544
  4. NM_016489.12NP_057573.2  cytosolic 5'-nucleotidase 3A isoform 2

    See identical proteins and their annotated locations for NP_057573.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, includes an alternate internal exon in the 5' region, and initiates translation at an alternate start codon, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AA482595, BC015856, BC071652, DA975244, DB346026
    Consensus CDS
    CCDS34617.1
    UniProtKB/Swiss-Prot
    Q9H0P0
    UniProtKB/TrEMBL
    A0A024RA81
    Related
    ENSP00000379456, OTTHUMP00000202850, ENST00000396152, OTTHUMT00000328883
    Conserved Domains (1) summary
    TIGR01544
    Location:16296
    HAD-SF-IE; haloacid dehalogenase superfamily, subfamily IE hydrolase, TIGR01544

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    33014113..33062797 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515409.1XP_011513711.1  

    See identical proteins and their annotated locations for XP_011513711.1

    UniProtKB/Swiss-Prot
    Q9H0P0
    UniProtKB/TrEMBL
    A0A090N7U2
    Related
    ENSP00000387166, OTTHUMP00000202849, ENST00000409467, OTTHUMT00000328882
    Conserved Domains (1) summary
    TIGR01544
    Location:4284
    HAD-SF-IE; haloacid dehalogenase superfamily, subfamily IE hydrolase, TIGR01544

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    33053595..33102290 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)