U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 56952, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 14.5), adrenal (RPKM 9.7) and 21 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
10p12.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (24848614..24952606, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (24866903..24970863, complement)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. PRTFDC1, a possible tumor-suppressor gene, is frequently silenced in oral squamous-cell carcinomas by aberrant promoter hypermethylation. Suzuki E, et al. Oncogene, 2007 Dec 13. PMID 17599052
  2. Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1. Welin M, et al. FEBS J, 2010 Dec. PMID 21054786
  3. PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse. Keebaugh AC, et al. PLoS One, 2011. PMID 21818316, Free PMC Article
  4. 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. Nievergelt CM, et al. Psychoneuroendocrinology, 2015 Jan. PMID 25456346
  5. Gene duplication and inactivation in the HPRT gene family. Keebaugh AC, et al. Genomics, 2007 Jan. PMID 16928426

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
phosphoribosyltransferase domain-containing protein 1
NP_001269715.1
NP_064585.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_2023_10

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.

Other Literature Sources
Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous