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

Gene ID: 56952, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:23333
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
Summary
Enables protein homodimerization activity. Predicted to be involved in purine ribonucleoside salvage. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 14.5), adrenal (RPKM 9.7) and 21 other tissues See more
Orthologs
mouse all
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Genomic context

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See PRTFDC1 in Genome Data Viewer
Location:
10p12.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (24848614..24952606, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (24866903..24970863, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (25137543..25241535, 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 ATAC-STARR-seq lymphoblastoid silent region 2223 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2224 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:25012349-25013259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2228 Neighboring gene uncharacterized LOC105376456 Neighboring gene MPRA-validated peak910 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:25051766-25052318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3160 Neighboring gene NFE2L2 motif-containing MPRA enhancer 245 Neighboring gene RN7SK pseudogene 241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2229 Neighboring gene threonine synthase like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2230 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:25305216-25305978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3162 Neighboring gene enkurin, TRPC channel interacting protein Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:25348855-25350054 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:25350646-25351845 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:25356859-25358058 Neighboring gene NANOG hESC enhancer GRCh37_chr10:25394727-25395330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2233 Neighboring gene long intergenic non-protein coding RNA 1516 Neighboring gene GPR158 antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. rs12411980 single-nucleotide polymorphism related to PRTFDC1 expression is significantly associated with phantom tooth pain.
    Title: rs12411980 single-nucleotide polymorphism related to PRTFDC1 expression is significantly associated with phantom tooth pain.
  2. We found evidence for PRTFDC1 as a potential novel PTSD gene, a finding that awaits further replication.
    Title: 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.
  3. These results demonstrate that PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse.
    Title: PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse.
  4. The PRTFDC1 structure has been determined at 1.7 A resolution with bound GMP. The overall structure and GMP binding mode are very similar to that observed for HPRT.
    Title: Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1.
  5. epigenetic silencing of PRTFDC1 by hypermethylation of the CpG island leads to a loss of PRTFDC1 function, which might be involved in squamous cell oral carcinogenesis.
    Title: PRTFDC1, a possible tumor-suppressor gene, is frequently silenced in oral squamous-cell carcinomas by aberrant promoter hypermethylation.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI 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.
EBI GWAS 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.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11888

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001282786.2 → NP_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:7 → 184
    PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain

  2. NM_020200.7 → NP_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
    B7Z1Z3, Q53HA7, Q59EL9, Q5VV18, Q5VV20, Q9NRG1
    Related
    ENSP00000318602.5, ENST00000320152.11
    Conserved Domains (1) summary
    cl00309
    Location:7 → 224
    PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    24866903..24970863 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NRG1.1 GenPept UniProtKB/Swiss-Prot:Q9NRG1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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