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UPRT uracil phosphoribosyltransferase homolog [ Homo sapiens (human) ]

Gene ID: 139596, updated on 24-Nov-2020

Summary

Official Symbol
UPRTprovided by HGNC
Official Full Name
uracil phosphoribosyltransferase homologprovided by HGNC
Primary source
HGNC:HGNC:28334
See related
Ensembl:ENSG00000094841 MIM:300656
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
UPP; FUR1
Summary
This gene encodes uracil phosphoribosyltransferase, which catalyzes the conversion of uracil and 5-phosphoribosyl-1-R-diphosphate to uridine monophosphate (UMP). This reaction is an important part of nucleotide metabolism, specifically the pyrimidine salvage pathway. The enzyme localizes to the nucleus and cytoplasm. The protein is a potential target for rational design of drugs to treat parasitic infections and cancer. [provided by RefSeq, Nov 2009]
Expression
Ubiquitous expression in adrenal (RPKM 3.5), thyroid (RPKM 3.4) and 25 other tissues See more
Orthologs

Genomic context

See UPRT in Genome Data Viewer
Location:
Xq13.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (75156369..75304897)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (74493894..74524732)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene neurite extension and migration factor Neighboring gene ATP binding cassette subfamily B member 7 Neighboring gene RNA, U6 small nuclear 562, pseudogene Neighboring gene BUD31 homolog pseudogene 2 Neighboring gene TERF1 pseudogene 7 Neighboring gene ribosomal protein L21 pseudogene 134 Neighboring gene zinc finger DHHC-type palmitoyltransferase 15

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

  • MGC23937, DKFZp781E1243

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
UMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
female pregnancy IEA
Inferred from Electronic Annotation
more info
 
lactation IEA
Inferred from Electronic Annotation
more info
 
nucleoside metabolic process IEA
Inferred from Electronic Annotation
more info
 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
response to insulin IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
uracil phosphoribosyltransferase homolog
Names
RP11-311P8.3
UMP pyrophosphorylase
UPRTase
uracil phosphoribosyltransferase (FUR1) homolog
NP_001294873.1
NP_001350750.1
NP_659489.1
XP_011529169.1

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_015972.2 RefSeqGene

    Range
    122707..153507
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001307944.1NP_001294873.1  uracil phosphoribosyltransferase homolog isoform 2

    See identical proteins and their annotated locations for NP_001294873.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AA974609, AK056354, AL137013, AL590234, DA512889
    Consensus CDS
    CCDS78494.1
    UniProtKB/TrEMBL
    A0A0A0MRR5
    Related
    ENSP00000362477.1, ENST00000373379.5
    Conserved Domains (1) summary
    pfam14681
    Location:118275
    UPRTase; Uracil phosphoribosyltransferase
  2. NM_001363821.1NP_001350750.1  uracil phosphoribosyltransferase homolog isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL137013, AL360179
    Consensus CDS
    CCDS87767.1
    Related
    ENSP00000434037.1, ENST00000530743.1
    Conserved Domains (1) summary
    pfam14681
    Location:2172
    UPRTase; Uracil phosphoribosyltransferase
  3. NM_145052.4NP_659489.1  uracil phosphoribosyltransferase homolog isoform 1

    See identical proteins and their annotated locations for NP_659489.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AA974609, AL137013, AL590234, BC015116, DA512889
    Consensus CDS
    CCDS14429.1
    UniProtKB/Swiss-Prot
    Q96BW1
    UniProtKB/TrEMBL
    A8KAF9
    Related
    ENSP00000362481.4, ENST00000373383.9
    Conserved Domains (1) summary
    pfam14681
    Location:118308
    UPRTase; Uracil phosphoribosyltransferase

RNA

  1. NR_030774.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA974609, AL137013, AL590234, CK818555, DA512889

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    75156369..75304897
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530867.3XP_011529169.1  uracil phosphoribosyltransferase homolog isoform X2

    Related
    ENSP00000433987.1, ENST00000462237.5
    Conserved Domains (1) summary
    cl00309
    Location:118143
    PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain
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