Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PTS | Dog | BH4-deficient hyperphenylalaninemia A | | ISO | PTS (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PTS | Dog | BH4-deficient hyperphenylalaninemia A | | ISO | PTS (Homo sapiens) | 7240710 | | OMIM | | |
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PTS (Canis lupus familiaris - dog) |
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PTS (Homo sapiens - human) |
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Pts (Mus musculus - house mouse) |
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Pts (Rattus norvegicus - Norway rat) |
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Pts (Chinchilla lanigera - long-tailed chinchilla) |
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PTS (Pan paniscus - bonobo/pygmy chimpanzee) |
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Pts (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PTS (Sus scrofa - pig) |
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PTS (Chlorocebus sabaeus - green monkey) |
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Pts (Heterocephalus glaber - naked mole-rat) |
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Variants in PTS
295 total Variants |
adipose tissue
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alimentary part of gastrointestinal system
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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nervous system
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reproductive system
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respiratory system
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6 | 5 | 5 | 23 | 22 | 16 | 6 | 6 | 6 | 6 | 33 | 22 | 12 | 14 | 10 |
RefSeq Transcripts | XM_038474408 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_038536145 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038536146 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038536147 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038602891 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038664868 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_848983 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001316187 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_002626490 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005359283 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005359284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AAEX04000005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAAHUQ010000059 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAQRD010000089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAUVH010000371 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
REHQ01000005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSCAFT00000022074 ⟹ ENSCAFP00000020498 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSCAFT00000042885 ⟹ ENSCAFP00000039935 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSCAFT00000080481 ⟹ ENSCAFP00000058486 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038474408 ⟹ XP_038330336 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038536145 ⟹ XP_038392073 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038536146 ⟹ XP_038392074 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038536147 ⟹ XP_038392075 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038602891 ⟹ XP_038458819 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038664868 ⟹ XP_038520796 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_848983 ⟹ XP_854076 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_005359283 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_005359284 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Protein RefSeqs | XP_038330336 | (Get FASTA) | NCBI Sequence Viewer |
XP_038392073 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038392074 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038392075 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038458819 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038520796 | (Get FASTA) | NCBI Sequence Viewer | |
XP_854076 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSCAFP00000020498.3 | ||
ENSCAFP00000039935.1 | |||
ENSCAFP00845001796.1 | |||
ENSCAFP00845001810 | |||
ENSCAFP00845001810.1 | |||
ENSCAFP00845001823.1 | |||
ENSCAFP00845002000.1 | |||
ENSCAFP00845002033.1 |
RefSeq Acc Id: | XP_854076 ⟸ XM_848983 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8I3RRF3 (UniProtKB/TrEMBL), A0A8P0SIF8 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSCAFP00000058486 ⟸ ENSCAFT00000080481 |
Ensembl Acc Id: | ENSCAFP00000039935 ⟸ ENSCAFT00000042885 |
Ensembl Acc Id: | ENSCAFP00000020498 ⟸ ENSCAFT00000022074 |
RefSeq Acc Id: | XP_038330336 ⟸ XM_038474408 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038458819 ⟸ XM_038602891 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038520796 ⟸ XM_038664868 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8I3RRF3 (UniProtKB/TrEMBL), A0A8P0SIF8 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038392073 ⟸ XM_038536145 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I3MYK2 (UniProtKB/TrEMBL), A0A8P0NR79 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038392074 ⟸ XM_038536146 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I3MYK2 (UniProtKB/TrEMBL), A0A8P0NR79 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038392075 ⟸ XM_038536147 |
- Peptide Label: | isoform X1 |
RGD ID: | 13683157 | ||||||||
Promoter ID: | EPDNEW_C1224 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | PTS_1 | ||||||||
Description: | 6-pyruvoyltetrahydropterin synthase | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
Ensembl Genes | ENSCAFG00000013915 | Ensembl |
ENSCAFG00000013963 | UniProtKB/TrEMBL | |
ENSCAFG00845001320 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000022074.5 | UniProtKB/TrEMBL |
ENSCAFT00000042885.4 | UniProtKB/TrEMBL | |
ENSCAFT00845002269.1 | UniProtKB/TrEMBL | |
ENSCAFT00845002284 | ENTREZGENE | |
ENSCAFT00845002284.1 | UniProtKB/TrEMBL | |
ENSCAFT00845002299.1 | UniProtKB/TrEMBL | |
ENSCAFT00845002515.1 | UniProtKB/TrEMBL | |
ENSCAFT00845002555.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.30.479.10 | UniProtKB/TrEMBL |
InterPro | 6-PTP_synth/QueD | UniProtKB/TrEMBL |
6-PTP_synth/QueD_sf | UniProtKB/TrEMBL | |
Carotenoid_Oase | UniProtKB/TrEMBL | |
PTPS_Cys_AS | UniProtKB/TrEMBL | |
PTPS_His_AS | UniProtKB/TrEMBL | |
KEGG Report | cfa:611326 | UniProtKB/TrEMBL |
NCBI Gene | PTS | ENTREZGENE |
PANTHER | 6-PYRUVOYL TETRAHYDROBIOPTERIN SYNTHASE | UniProtKB/TrEMBL |
BETA,BETA-CAROTENE 9',10'-OXYGENASE | UniProtKB/TrEMBL | |
PTHR10543 | UniProtKB/TrEMBL | |
PTHR12589 | UniProtKB/TrEMBL | |
Pfam | PTPS | UniProtKB/TrEMBL |
RPE65 | UniProtKB/TrEMBL | |
PIRSF | PTP_synth | UniProtKB/TrEMBL |
PROSITE | PTPS_1 | UniProtKB/TrEMBL |
PTPS_2 | UniProtKB/TrEMBL | |
Superfamily-SCOP | Tetrahydrobiopterin biosynthesis enzymes-like | UniProtKB/TrEMBL |
UniProt | A0A8I3MEA1_CANLF | UniProtKB/TrEMBL |
A0A8I3MG13_CANLF | UniProtKB/TrEMBL | |
A0A8I3MYK2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3RPU9_CANLF | UniProtKB/TrEMBL | |
A0A8I3RRF3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0NR79 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0SIF8 | ENTREZGENE, UniProtKB/TrEMBL | |
VGNC ID | VGNC:45203 | ENTREZGENE |