Format

Send to:

Choose Destination

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

Gene ID: 51251, updated on 9-Feb-2020

Summary

Official Symbol
NT5C3Aprovided by HGNC
Official Full Name
5'-nucleotidase, cytosolic IIIAprovided by HGNC
Primary source
HGNC:HGNC:17820
See related
Ensembl:ENSG00000122643 MIM:606224
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]
Expression
Ubiquitous expression in colon (RPKM 15.3), duodenum (RPKM 10.7) and 25 other tissues See more
Orthologs

Genomic context

See NT5C3A in Genome Data Viewer
Location:
7p14.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (33014113..33062776, 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 RP9 pseudogene Neighboring gene FKBP prolyl isomerase 9 Neighboring gene RNA, U6 small nuclear 388, pseudogene Neighboring gene ribosomal protein S29 pseudogene 14 Neighboring gene RNA, 7SL, cytoplasmic 505, pseudogene Neighboring gene RP9 pre-mRNA splicing factor Neighboring gene RNA, 5S ribosomal pseudogene 229 Neighboring gene Bardet-Biedl syndrome 9

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC27337, MGC87109, MGC87828

Gene Ontology Provided by GOA

Function Evidence Code Pubs
5'-nucleotidase activity IBA
Inferred from Biological aspect of Ancestor
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
 
tRNA 2'-phosphotransferase activity NAS
Non-traceable Author Statement
more info
PubMed 
tRNA 2'-phosphotransferase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
defense response to virus IDA
Inferred from Direct Assay
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 

General protein information

Preferred Names
cytosolic 5'-nucleotidase 3A
Names
5'-nucleotidase, cytosolic III
7-methylguanosine phosphate-specific 5'-nucleotidase
cytosolic 5'-nucleotidase 3
lupin
pyrimidine 5'-nucleotidase 1
uridine 5'-monophosphate hydrolase 1
NP_001002009.1
NP_001002010.2
NP_001159590.1
NP_001343925.1
NP_001361264.1
NP_001361265.1
NP_001361266.1
NP_001361267.1
NP_001361268.1
NP_057573.2

NCBI Reference Sequences (RefSeq)

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
    26892..53685
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001002009.1

    Status: REVIEWED

    Source sequence(s)
    AC074338, AC083863
    UniProtKB/Swiss-Prot
    Q9H0P0
    UniProtKB/TrEMBL
    A0A024RA81
    Related
    ENSP00000385261.1, ENST00000405342.5
    Conserved Domains (1) summary
    cd07504
    Location:25297
    HAD_5NT; haloacid dehalogenase (HAD)-like 5'-nucleotidases similar to human cytosolic IIIA and IIIB
  2. NM_001002010.5NP_001002010.2  cytosolic 5'-nucleotidase 3A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AA482595, AF151067, AK290118, HY012697
    Consensus CDS
    CCDS34616.2
    Related
    ENSP00000476480.1, ENST00000610140.6
    Conserved Domains (1) summary
    cd07504
    Location:59331
    HAD_5NT; haloacid dehalogenase (HAD)-like 5'-nucleotidases similar to human cytosolic IIIA and IIIB
  3. NM_001166118.3NP_001159590.1  cytosolic 5'-nucleotidase 3A isoform 3

    See identical proteins and their annotated locations for NP_001159590.1

    Status: REVIEWED

    Source sequence(s)
    AC074338, AC083863
    Consensus CDS
    CCDS55101.1
    UniProtKB/Swiss-Prot
    Q9H0P0
    UniProtKB/TrEMBL
    A0A090N7U2
    Related
    ENSP00000371039.2, ENST00000381626.6
    Conserved Domains (1) summary
    cd07504
    Location:13285
    HAD_5NT; haloacid dehalogenase (HAD)-like 5'-nucleotidases similar to human cytosolic IIIA and IIIB
  4. NM_001356996.2NP_001343925.1  cytosolic 5'-nucleotidase 3A isoform 3

    Status: REVIEWED

    Source sequence(s)
    AA482595, AC074338, AC083863, DA975244
    Consensus CDS
    CCDS55101.1
    Related
    ENSP00000387166.1, ENST00000409467.6
    Conserved Domains (1) summary
    cd07504
    Location:13285
    HAD_5NT; haloacid dehalogenase (HAD)-like 5'-nucleotidases similar to human cytosolic IIIA and IIIB
  5. NM_001374335.1NP_001361264.1  cytosolic 5'-nucleotidase 3A isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC074338, AC083863
  6. NM_001374336.1NP_001361265.1  cytosolic 5'-nucleotidase 3A isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC074338, AC083863
  7. NM_001374337.1NP_001361266.1  cytosolic 5'-nucleotidase 3A isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC074338, AC083863
  8. NM_001374338.1NP_001361267.1  cytosolic 5'-nucleotidase 3A isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC074338, AC083863
  9. NM_001374339.1NP_001361268.1  cytosolic 5'-nucleotidase 3A isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC074338, AC083863
  10. NM_016489.13NP_057573.2  cytosolic 5'-nucleotidase 3A isoform 2

    See identical proteins and their annotated locations for NP_057573.2

    Status: REVIEWED

    Source sequence(s)
    AA482595, BC015856, BC071652, DB346026
    Consensus CDS
    CCDS34617.1
    UniProtKB/Swiss-Prot
    Q9H0P0
    UniProtKB/TrEMBL
    A0A024RA81
    Related
    ENSP00000496364.1, ENST00000643244.1
    Conserved Domains (1) summary
    cd07504
    Location:25297
    HAD_5NT; haloacid dehalogenase (HAD)-like 5'-nucleotidases similar to human cytosolic IIIA and IIIB

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    33014113..33062776 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center