Version: 8.0.0Date: Tue Jan 28 2025
Category
Prtfdc1
(Rattus norvegicus)Gene
Name: phosphoribosyl transferase domain containing 1
Synonyms: phosphoribosyltransferase domain-containing protein 1, LOC291355
Source: RGD:1310177
Biotype: protein coding gene
Symbol: Prtfdc1 (Rno)
Symbol: Prtfdc1
Gene Synopsis: Orthologous to human PRTFDC1 (phosphoribosyl transferase domain containing 1); INTERACTS WITH 1-naphthyl
Automated Gene Synopsis: Orthologous to human PRTFDC1 (phosphoribosyl transferase domain containing 1).
Strict Orthology Symbols: prtfdc1
PRTFDC1
(Homo sapiens)Gene
Name: phosphoribosyl transferase domain containing 1
Synonyms: phosphoribosyltransferase domain-containing protein 1, FLJ11888, HHGP
Source: HGNC:23333
Biotype: protein coding gene
Symbol: PRTFDC1 (Hsa)
Symbol: PRTFDC1
Strict Orthology Symbols: prtfdc1
prtfdc1
(Xenopus tropicalis)Gene
Name: phosphoribosyl transferase domain containing 1
Synonyms: phosphoribosyl transferase domain containing 1, prtfdc1
Source: Xenbase:XB-GENE-942165
Biotype: gene
Symbol: prtfdc1 (Xtr)
Symbol: prtfdc1
Automated Gene Synopsis: Orthologous to human PRTFDC1 (phosphoribosyl transferase domain containing 1).
Synonyms: prtfdc1...prtfdc1...prtfdc1
Strict Orthology Symbols: Prtfdc1...prtfdc1.L...prtfdc1a...prtfdc1b...PRTFDC1
prtfdc1b
(Danio rerio)Gene
Name: phosphoribosyl transferase domain containing 1b
Synonyms: hprt1l, hprt1, zgc:86771, prtfdc1
Source: ZFIN:ZDB-GENE-980526-324
Biotype: protein coding gene
Symbol: prtfdc1b (Dre)
Automated Gene Synopsis: Orthologous to human PRTFDC1 (phosphoribosyl transferase domain containing 1).
Synonyms: prtfdc1...prtfdc1...prtfdc1
Strict Orthology Symbols: prtfdc1
Symbol: prtfdc1b
prtfdc1a
(Danio rerio)Gene
Name: phosphoribosyl transferase domain containing 1a
Synonyms: unm_sa821
Source: ZFIN:ZDB-GENE-120727-16
Biotype: protein coding gene
Symbol: prtfdc1a (Dre)
Automated Gene Synopsis: Orthologous to human PRTFDC1 (phosphoribosyl transferase domain containing 1).
Strict Orthology Symbols: prtfdc1
Symbol: prtfdc1a
prtfdc1.L
(Xenopus laevis)Gene
Name: phosphoribosyl transferase domain containing 1
Synonyms: phosphoribosyl transferase domain containing 1, prtfdc1.L
Source: Xenbase:XB-GENE-942169
Biotype: gene
Symbol: prtfdc1.L (Xla)
Automated Gene Synopsis: Orthologous to human PRTFDC1 (phosphoribosyl transferase domain containing 1).
Strict Orthology Symbols: prtfdc1
Symbol: prtfdc1.L
hprt-1
(Caenorhabditis elegans)Gene
Name: Hypoxanthine PhosphoRibosylTransferase homolog 1
Synonyms: CELE_Y105E8B.5, Y105E8B.j, Y105E8B.5
Source: WB:WBGene00013690
Biotype: protein coding gene
Automated Gene Synopsis: Orthologous to several human genes including PRTFDC1 (phosphoribosyl transferase domain containing 1)
Strict Orthology Symbols: prtfdc1
hprt1.L
(Xenopus laevis)Gene
Name: hypoxanthine phosphoribosyltransferase 1
Synonyms: hprt1.L, hypoxanthine phosphoribosyltransferase 1, LOC108700178, hgprt, hprt, prtfdc1
Source: Xenbase:XB-GENE-6078713
Biotype: gene
Synonyms: prtfdc1...prtfdc1...prtfdc1
hprt1
(Xenopus tropicalis)Gene
Name: hypoxanthine phosphoribosyltransferase 1
Synonyms: hypoxanthine phosphoribosyltransferase 1, LOC108700178, hprt1, hgprt, prtfdc1, hprt
Source: Xenbase:XB-GENE-1014679
Biotype: gene
Synonyms: prtfdc1...prtfdc1...prtfdc1
Hprt1
(Mus musculus)Gene
Name: hypoxanthine phosphoribosyltransferase 1
Synonyms: Hgprtase, expressed sequence C81579, hypoxanthine guanine phosphoribosyl transferase, Hprt, C81579, hypoxanthine guanine phosphoribosyl transferase 1
Source: MGI:96217
Biotype: protein coding gene
Strict Orthology Symbols: prtfdc1
Gene Ontology
Source: GO:0006178
Synonyms:
- guanine, xanthine and their nucleoside salvage
Branch: biological process
Genes: Prtfdc1 (Rno)...prtfdc1a (Dre)...prtfdc1b (Dre)...PRTFDC1 (Hsa)
Gene Ontology
Source: GO:0004422
Synonyms:
- 6-hydroxypurine phosphoribosyltransferase activity
- 6-mercaptopurine phosphoribosyltransferase activity
Branch: molecular function
Genes: Prtfdc1 (Rno)...prtfdc1a (Dre)...prtfdc1b (Dre)...PRTFDC1 (Hsa)
Gene Ontology
Source: GO:0052657
Synonyms:
- 6-hydroxypurine phosphoribosyltransferase activity
- 6-mercaptopurine phosphoribosyltransferase activity
Branch: molecular function
Genes: prtfdc1a (Dre)...prtfdc1b (Dre)
Gene Ontology
Source: GO:0046100
Synonyms:
- hypoxanthine metabolism
Branch: biological process
Genes: prtfdc1a (Dre)...prtfdc1b (Dre)
Gene Ontology
Source: GO:0006166
Synonyms: Not Available
Branch: biological process
Genes: Prtfdc1 (Rno)...prtfdc1a (Dre)...prtfdc1b (Dre)...PRTFDC1 (Hsa)
Gene Ontology
Source: GO:0032264
Synonyms: Not Available
Branch: biological process
Genes: prtfdc1b (Dre)...Prtfdc1 (Rno)...prtfdc1a (Dre)
Gene Ontology
Source: GO:0046038
Synonyms:
- GMP breakdown
- GMP catabolism
Branch: biological process
Genes: PRTFDC1 (Hsa)...Prtfdc1 (Rno)
la023440Tg
(Danio rerio)Allele/Variant
Source: ZFIN:ZDB-ALT-120806-10752
Genes: prtfdc1b (Dre)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Gene Synonyms: prtfdc1
Genes: prtfdc1b (Dre)
Gene Ontology
Source: GO:0032263
Synonyms: Not Available
Branch: biological process
Genes: prtfdc1b (Dre)...prtfdc1a (Dre)
Disease
Source: DOID:1919
Definition: A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26.
Genes: prtfdc1 (Xtr)
Tg(RP11-12907)9Jwth
(Mus musculus)Allele/Variant
Source: MGI:5014750
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Construct Expressed Component: PRTFDC1 (Hsa)
Tg(RP11-12907)13Jwth
(Mus musculus)Allele/Variant
Source: MGI:5014749
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Construct Expressed Component: PRTFDC1 (Hsa)
Gene Ontology
Source: GO:0000287
Synonyms:
- Mg binding
- magnesium binding
Branch: molecular function
Genes: prtfdc1b (Dre)...prtfdc1a (Dre)...PRTFDC1 (Hsa)
Gene Ontology
Source: GO:0016757
Synonyms:
- transferase activity, transferring glycosyl groups
- transferase activity, transferring other glycosyl groups
Branch: molecular function
Genes: prtfdc1b (Dre)...prtfdc1a (Dre)
Gene Ontology
Source: GO:0000166
Synonyms: Not Available
Branch: molecular function
Genes: prtfdc1b (Dre)...prtfdc1a (Dre)...PRTFDC1 (Hsa)...Prtfdc1 (Rno)
Gene Ontology
Source: GO:0042803
Synonyms:
- dimerization activity
Branch: molecular function
Genes: PRTFDC1 (Hsa)...Prtfdc1 (Rno)
Gene Ontology
Source: GO:0016740
Synonyms: Not Available
Branch: molecular function
Genes: prtfdc1a (Dre)...prtfdc1b (Dre)
sa821
(Danio rerio)Allele/Variant
Source: ZFIN:ZDB-ALT-120727-283
Genes: prtfdc1a (Dre)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: splice_acceptor_variant
Diseases: Not Available
Variant Name: Not Available
Genes: prtfdc1a (Dre)
sa14170
(Danio rerio)Allele/Variant
Source: ZFIN:ZDB-ALT-131217-12558
Genes: prtfdc1b (Dre)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: splice_donor_variant
Diseases: Not Available
Variant Name: Not Available
Gene Synonyms: prtfdc1
Genes: prtfdc1b (Dre)
Gene Ontology
Source: GO:0046872
Synonyms:
- heavy metal binding
- metal binding
Branch: molecular function
Genes: prtfdc1a (Dre)...PRTFDC1 (Hsa)...Prtfdc1 (Rno)...prtfdc1b (Dre)
Gene Ontology
Source: GO:0005829
Synonyms: Not Available
Branch: cellular component
Genes: prtfdc1a (Dre)...PRTFDC1 (Hsa)...Prtfdc1 (Rno)...prtfdc1b (Dre)
Gene Ontology
Source: GO:0005737
Synonyms: Not Available
Branch: cellular component
Genes: prtfdc1a (Dre)...prtfdc1b (Dre)
Gene Ontology
Source: GO:0005515
Synonyms:
- glycoprotein binding
- protein amino acid binding
Branch: molecular function
Genes: PRTFDC1 (Hsa)
(GRCh38)10:24851444T>C
(Homo sapiens)Allele/Variant
Source: rs765563550
Genes: PRTFDC1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)10:24851444T>C
(GRCh38)10:24856937T>C
(Homo sapiens)Allele/Variant
Source: rs111639291
Genes: PRTFDC1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)10:24856937T>C
(GRCh38)10:24858397C>A
(Homo sapiens)Allele/Variant
Source: rs199983667
Genes: PRTFDC1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)10:24858397C>A
(GRCh38)10:24849851C>T
(Homo sapiens)Allele/Variant
Source: rs757699463
Genes: PRTFDC1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)10:24849851C>T
(GRCh38)10:24851442G>T
(Homo sapiens)Allele/Variant
Source: rs762042745
Genes: PRTFDC1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)10:24851442G>T
(GRCh38)10:24872046A>G
(Homo sapiens)Allele/Variant
Source: rs142405158
Genes: PRTFDC1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)10:24872046A>G
(GRCh38)10:24942339A>T
(Homo sapiens)Allele/Variant
Source: rs1474775371
Genes: PRTFDC1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)10:24942339A>T
(GRCh38)10:24937333T>C
(Homo sapiens)Allele/Variant
Source: rs367876185
Genes: PRTFDC1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)10:24937333T>C
(GRCh38)10:24937362T>C
(Homo sapiens)Allele/Variant
Source: rs982232351
Genes: PRTFDC1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)10:24937362T>C
(GRCh38)10:24855356A>G
(Homo sapiens)Allele/Variant
Source: rs377324304
Genes: PRTFDC1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)10:24855356A>G
(GRCh38)10:24856986C>T
(Homo sapiens)Allele/Variant
Source: rs145142862
Genes: PRTFDC1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)10:24856986C>T
(GRCh38)10:24872030C>T
(Homo sapiens)Allele/Variant
Source: rs750556528
Genes: PRTFDC1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)10:24872030C>T
(GRCh38)10:24849854T>C
(Homo sapiens)Allele/Variant
Source: rs146174646
Genes: PRTFDC1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)10:24849854T>C
(mRatBN7.2)17:83563076G>C
(Rattus norvegicus)Allele/Variant
Source: rs3323063509
Genes: Prtfdc1 (Rno)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (mRatBN7.2)17:83563076G>C
(mRatBN7.2)17:83573995G>A
(Rattus norvegicus)Allele/Variant
Source: rs197239791
Genes: Prtfdc1 (Rno)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (mRatBN7.2)17:83573995G>A
(mRatBN7.2)17:83599301C>T
(Rattus norvegicus)Allele/Variant
Source: rs107384658
Genes: Prtfdc1 (Rno)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (mRatBN7.2)17:83599301C>T
(mRatBN7.2)17:83615886T>C
(Rattus norvegicus)Allele/Variant
Source: NC_051352.1:g.83615886T>C
Genes: Prtfdc1 (Rno)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (mRatBN7.2)17:83615886T>C