| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 5538 |
Name | PPT1 |
Synonym | CLN1|INCL|PPT;palmitoyl-protein thioesterase 1;PPT1;palmitoyl-protein thioesterase 1 |
Definition | ceroid-palmitoyl-palmitoyl-protein thioesterase 1|palmitoyl-protein hydrolase 1 |
Position | 1p32 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Fatty acid elongation in mitochondria;KEGG PATHWAY;hsa00062 |
Pathway | Lysosome;KEGG PATHWAY;hsa04142 |
Pathway | Metabolic pathways;KEGG PATHWAY;hsa01100 |
Disease | Lysosomal storage diseases;KEGG DISEASE |
Disease | Ceroid lipofuscinosis, neuronal-1, infantile;OMIM |
Disease | Ceroid lipofuscinosis, neuronal, variant juvenile type, with granular osmiophilic deposits;OMIM |
Disease | Genetic disorders;KEGG DISEASE |
Disease | Neuronal ceroid lipofuscinosis;KEGG DISEASE;H00149 |
External Links | |
Links to Entrez Gene | 5538 |
Links to all GeneRIF Items | 5538 |
Links to iHOP | 5538 |
Sequence Information | |
Nucleotide Sequence | >5538 : length: 2504 TTATTTTGATTCACCGCAGAGGGCGGTCTACGAGAGCGCAGAGCCCCACTCGGCCAGCGG GGTCTGGCGGGGGACCTGTCGCGCTGAAAGCTCCAGGGTAGGGCCGACGCCCATCAGGCT GGGCATCCGTTCGGGATGCGCAGGTTGCGATCTGCAACCGGCGGCGCCACGCCCAGGCGG GCGGAGCGCGGTTCCCGGAGTCTCGCGCCCGCGGTCATGTGACACAGCGAAGATGGCGTC GCCCGGCTGCCTGTGGCTCTTGGCTGTGGCTCTCCTGCCATGGACCTGCGCTTCTCGGGC GCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGGATGGGAGA CAGCTGTTGCAATCCCTTAAGCATGGGTGCTATTAAAAAAATGGTGGAGAAGAAAATACC TGGAATTTACGTCTTATCTTTAGAGATTGGGAAGACCCTGATGGAGGACGTGGAGAACAG CTTCTTCTTGAATGTCAATTCCCAAGTAACAACAGTGTGTCAGGCACTTGCTAAGGATCC TAAATTGCAGCAAGGCTACAATGCTATGGGATTCTCCCAGGGAGGCCAATTTCTGAGGGC AGTGGCTCAGAGATGCCCTTCACCTCCCATGATCAATCTGATCTCGGTTGGGGGACAACA TCAAGGTGTTTTTGGACTCCCTCGATGCCCAGGAGAGAGCTCTCACATCTGTGACTTCAT CCGAAAAACACTGAATGCTGGGGCGTACTCCAAAGTTGTTCAGGAACGCCTCGTGCAAGC CGAATACTGGCATGACCCCATAAAGGAGGATGTGTATCGCAACCACAGCATCTTCTTGGC AGATATAAATCAGGAGCGGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAA GAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGTG GTTTGGATTTTACAGAAGTGGCCAAGCCAAGGAAACCATTCCCTTACAGGAGACCTCCCT GTACACACAGGACCGCCTGGGGCTAAAGGAAATGGACAATGCAGGACAGCTAGTGTTTCT GGCTACAGAAGGGGACCATCTTCAGTTGTCTGAAGAATGGTTTTATGCCCACATCATACC ATTCCTTGGATGAAACCCGTATAGTTCACAATAGAGCTCAGGGAGCCCCTAACTCTTCCA AACCACATGGGAGACAGTTTCCTTCATGCCCAAGCCTGAGCTCAGATCCAGCTTGCAACT AATCCTTCTATCATCTAACATGCCCTACTTGGAAAGATCTAAGATCTGAATCTTATCCTT TGCCATCTTCTGTTACCATATGGTGTTGAATGCAAGTTTAATTACCATGGAGATTGTTTT ACAAACTTTTGATGTGGTCAAGTTCAGTTTTAGAAAAGGGAGTCTGTTCCAGATCAGTGC CAGAACTGTGCCCAGGCCCAAAGGAGACAACTAACTAAAGTAGTGAGATAGATTCTAAGG GCAAACATTTTTCCAAGTCTTGCCATATTTCAAGCAAAGAGGTGCCCAGGCCTGAGGTAC TCACATAAATGCTTTGTTTTGCTGGTGATTTAACCAGTGCTTGGAAAAATCTTGCTTGGC TATTTCTGCATCATTTCTTAAGGCTGCCTTCCTCTCTCAGTACGTTGCCCTCTGTGCTAT CATCTTATCATCAATTATTAGACAAATCCCACTGGCCTACAGTCTTGCTTCTGCAGCACC CACTTTGTCTCCTCAGGTAGTGATGAATTAGTTGCTGTCACAAAAGGAGGGAAGTAGCAC CCAAATTAAGTTGCTTAAGAGAGGAAATGTACATCTTGTATAACTTAGGGAGCGAAGAAA ATGTAGGCGCGAAAGTGAAAAGTGAGGCAGCTAGTTCTTCCTATTCCATTCTCGACCAAC CTGCCCTTTCTTAATATGACTAGTGGTCTTGATGCTAGAGTCAACTTACTCTGTTGCTGG CTTTAGCAGAGAATAGGAGGAACCATATGAAAAAGATCAGGCTTTCTGACTTCCATCCCC AAAACACATTTACCAGCATACTCCAAACTGTTTCTGATGTGTTCCATGAGAAAAGGATTG TTTGCTCAAAAAGCTTGGAAAATACTACACACTCCCTTTCTCCTTCTGGAGATCAACCCA CATTAGAGTGTCTAAGGACTCCTGAGAATTCCTGTTACAGTAAACAAAACTAACGTAATC TACCATTTCCTACACTATTTGAGCATGGAAATCATAGTCCCCACTCTGTGAAAACTTAAC GCTTTTTGGAAGACATTTCTGTAGCATGTCAGTTTGGAGAAATGATGAGCTACGCCTTGA TGAAAGAACCGTGTTGGTGCTGCTAAGTTTAGCCATTATGGTTTTTCCTTTCTCTCTCTT AAGCCTTATTCTTCAACTAAAAGATGAGGATTAAGAGCAAGAAGTTGGGGGGGATGTGAA AATAATTTTATGAGGTTGTCTAAAATAAAGAGTAGTTTCTTATC |
Protein Sequence | >5538 : length: 306 MASPGCLWLLAVALLPWTCASRALQHLDPPAPLPLVIWHGMGDSCCNPLSMGAIKKMVEK KIPGIYVLSLEIGKTLMEDVENSFFLNVNSQVTTVCQALAKDPKLQQGYNAMGFSQGGQF LRAVAQRCPSPPMINLISVGGQHQGVFGLPRCPGESSHICDFIRKTLNAGAYSKVVQERL VQAEYWHDPIKEDVYRNHSIFLADINQERGINESYKKNLMALKKFVMVKFLNDSIVDPVD SEWFGFYRSGQAKETIPLQETSLYTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAH IIPFLG |