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PRTFDC1 (phosphoribosyl transferase domain containing 1)

Identity

Alias (NCBI)HHGP
HGNC (Hugo) PRTFDC1
HGNC Alias symbHHGP
LocusID (NCBI) 56952
Atlas_Id 50014
Location 10p12.1  [Link to chromosome band 10p12]
Location_base_pair Starts at 24848614 and ends at 24952606 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
SNRPE (1q32.1) / PRTFDC1 (10p12.1)UBA1 (Xp11.23) / PRTFDC1 (10p12.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)PRTFDC1   23333
Cards
Entrez_Gene (NCBI)PRTFDC1    phosphoribosyl transferase domain containing 1
AliasesHHGP
GeneCards (Weizmann)PRTFDC1
Ensembl hg19 (Hinxton)ENSG00000099256 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000099256 [Gene_View]  ENSG00000099256 [Sequence]  chr10:24848614-24952606 [Contig_View]  PRTFDC1 [Vega]
ICGC DataPortalENSG00000099256
TCGA cBioPortalPRTFDC1
AceView (NCBI)PRTFDC1
Genatlas (Paris)PRTFDC1
SOURCE (Princeton)PRTFDC1
Genetics Home Reference (NIH)PRTFDC1
Genomic and cartography
GoldenPath hg38 (UCSC)PRTFDC1  -     chr10:24848614-24952606 -  10p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PRTFDC1  -     10p12.1   [Description]    (hg19-Feb_2009)
GoldenPathPRTFDC1 - 10p12.1 [CytoView hg19]  PRTFDC1 - 10p12.1 [CytoView hg38]
ImmunoBaseENSG00000099256
Genome Data Viewer NCBIPRTFDC1 [Mapview hg19]  
OMIM610751   
Gene and transcription
Genbank (Entrez)AB209792 AF226056 AK021950 AK222674 AK294130
RefSeq transcript (Entrez)NM_001282786 NM_020200
Consensus coding sequences : CCDS (NCBI)PRTFDC1
Gene ExpressionPRTFDC1 [ NCBI-GEO ]   PRTFDC1 [ EBI - ARRAY_EXPRESS ]   PRTFDC1 [ SEEK ]   PRTFDC1 [ MEM ]
Gene Expression Viewer (FireBrowse)PRTFDC1 [ Firebrowse - Broad ]
GenevisibleExpression of PRTFDC1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56952
GTEX Portal (Tissue expression)PRTFDC1
Human Protein AtlasENSG00000099256-PRTFDC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NRG1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NRG1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NRG1
PhosPhoSitePlusQ9NRG1
Domains : Interpro (EBI)Hxn_phspho_trans    PRibTrfase_dom    PRTase-like   
Domain families : Pfam (Sanger)Pribosyltran (PF00156)   
Domain families : Pfam (NCBI)pfam00156   
Conserved Domain (NCBI)PRTFDC1
PDB (RSDB)2JBH   
PDB Europe2JBH   
PDB (PDBSum)2JBH   
PDB (IMB)2JBH   
Structural Biology KnowledgeBase2JBH   
SCOP (Structural Classification of Proteins)2JBH   
CATH (Classification of proteins structures)2JBH   
SuperfamilyQ9NRG1
AlphaFold pdb e-kbQ9NRG1   
Human Protein Atlas [tissue]ENSG00000099256-PRTFDC1 [tissue]
HPRD17917
Protein Interaction databases
DIP (DOE-UCLA)Q9NRG1
IntAct (EBI)Q9NRG1
BioGRIDPRTFDC1
STRING (EMBL)PRTFDC1
ZODIACPRTFDC1
Ontologies - Pathways
QuickGOQ9NRG1
Ontology : AmiGOnucleotide binding  magnesium ion binding  hypoxanthine phosphoribosyltransferase activity  protein binding  purine ribonucleoside salvage  guanine salvage  protein homodimerization activity  GMP catabolic process  
Ontology : EGO-EBInucleotide binding  magnesium ion binding  hypoxanthine phosphoribosyltransferase activity  protein binding  purine ribonucleoside salvage  guanine salvage  protein homodimerization activity  GMP catabolic process  
NDEx NetworkPRTFDC1
Atlas of Cancer Signalling NetworkPRTFDC1
Wikipedia pathwaysPRTFDC1
Orthology - Evolution
OrthoDB56952
GeneTree (enSembl)ENSG00000099256
Phylogenetic Trees/Animal Genes : TreeFamPRTFDC1
Homologs : HomoloGenePRTFDC1
Homology/Alignments : Family Browser (UCSC)PRTFDC1
Gene fusions - Rearrangements
Fusion : QuiverPRTFDC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRTFDC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRTFDC1
dbVarPRTFDC1
ClinVarPRTFDC1
MonarchPRTFDC1
1000_GenomesPRTFDC1 
Exome Variant ServerPRTFDC1
GNOMAD BrowserENSG00000099256
Varsome BrowserPRTFDC1
ACMGPRTFDC1 variants
VarityQ9NRG1
Genomic Variants (DGV)PRTFDC1 [DGVbeta]
DECIPHERPRTFDC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPRTFDC1 
Mutations
ICGC Data PortalPRTFDC1 
TCGA Data PortalPRTFDC1 
Broad Tumor PortalPRTFDC1
OASIS PortalPRTFDC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRTFDC1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPRTFDC1
Mutations and Diseases : HGMDPRTFDC1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPRTFDC1
DgiDB (Drug Gene Interaction Database)PRTFDC1
DoCM (Curated mutations)PRTFDC1
CIViC (Clinical Interpretations of Variants in Cancer)PRTFDC1
Cancer3DPRTFDC1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610751   
Orphanet
DisGeNETPRTFDC1
MedgenPRTFDC1
Genetic Testing Registry PRTFDC1
NextProtQ9NRG1 [Medical]
GENETestsPRTFDC1
Target ValidationPRTFDC1
Huge Navigator PRTFDC1 [HugePedia]
ClinGenPRTFDC1
Clinical trials, drugs, therapy
MyCancerGenomePRTFDC1
Protein Interactions : CTDPRTFDC1
Pharm GKB GenePA134888009
PharosQ9NRG1
Clinical trialPRTFDC1
Miscellaneous
canSAR (ICR)PRTFDC1
HarmonizomePRTFDC1
DataMed IndexPRTFDC1
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPRTFDC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:27:07 CEST 2021

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