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    PRTFDC1 phosphoribosyl transferase domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 56952, updated on 15-Jun-2019

    Summary

    Official Symbol
    PRTFDC1provided by HGNC
    Official Full Name
    phosphoribosyl transferase domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:23333
    See related
    Ensembl:ENSG00000099256 MIM:610751
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HHGP
    Expression
    Ubiquitous expression in brain (RPKM 14.5), adrenal (RPKM 9.7) and 21 other tissues See more
    Orthologs

    Genomic context

    See PRTFDC1 in Genome Data Viewer
    Location:
    10p12.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (24848607..24952644, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (25137536..25242680, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 21 Neighboring gene coenzyme Q10B pseudogene 1 Neighboring gene uncharacterized LOC105376456 Neighboring gene NFE2L2 motif-containing MPRA enhancer 245 Neighboring gene RN7SK pseudogene 241 Neighboring gene threonine synthase like 1 Neighboring gene Sharpr-MPRA regulatory region 97 Neighboring gene enkurin, TRPC channel interacting protein Neighboring gene long intergenic non-protein coding RNA 1516 Neighboring gene GPR158 antisense RNA 1

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
    NHGRI GWA Catalog
    Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ11888

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT hypoxanthine phosphoribosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    magnesium ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    NOT GMP catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT guanine salvage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    purine ribonucleoside salvage IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    phosphoribosyltransferase domain-containing protein 1
    NP_001269715.1
    NP_064585.1

    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.

    mRNA and Protein(s)

    1. NM_001282786.2NP_001269715.1  phosphoribosyltransferase domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001269715.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK021950, AK294130, AK309614, BQ003226
      Consensus CDS
      CCDS60506.1
      UniProtKB/Swiss-Prot
      Q9NRG1
      Related
      ENSP00000365558.1, ENST00000376378.5
      Conserved Domains (1) summary
      cl00309
      Location:7184
      PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain
    2. NM_020200.7NP_064585.1  phosphoribosyltransferase domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_064585.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK021950, AK309614, BQ003226
      Consensus CDS
      CCDS7145.1
      UniProtKB/Swiss-Prot
      Q9NRG1
      Related
      ENSP00000318602.5, ENST00000320152.11
      Conserved Domains (1) summary
      cl00309
      Location:7224
      PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      24848614..24952606 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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