Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Mitochondrial Myopathy with Lactic Acidosis | | ISO | PNPLA8 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Mitochondrial Myopathy with Lactic Acidosis | | ISO | PNPLA8 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
2. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
3. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:14610273 | PMID:15024020 | PMID:15471944 | PMID:16141072 | PMID:16141073 | PMID:17213206 |
PMID:17923475 | PMID:18799693 | PMID:19840936 | PMID:20179248 | PMID:20625036 | PMID:20817734 | PMID:21191104 | PMID:21267068 | PMID:21873635 | PMID:22389508 | PMID:22778252 | PMID:23354121 |
PMID:23429536 | PMID:25313821 | PMID:25492867 | PMID:26206229 | PMID:27226532 | PMID:27453526 | PMID:27767079 | PMID:28442572 | PMID:29035365 | PMID:31700134 | PMID:32161117 | PMID:32325033 |
PMID:32581705 | PMID:32879212 | PMID:36719796 | PMID:37275531 |
Pnpla8 (Mus musculus - house mouse) |
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PNPLA8 (Homo sapiens - human) |
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Pnpla8 (Rattus norvegicus - Norway rat) |
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Pnpla8 (Chinchilla lanigera - long-tailed chinchilla) |
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PNPLA8 (Pan paniscus - bonobo/pygmy chimpanzee) |
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PNPLA8 (Canis lupus familiaris - dog) |
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Pnpla8 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PNPLA8 (Sus scrofa - pig) |
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PNPLA8 (Chlorocebus sabaeus - green monkey) |
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Pnpla8 (Heterocephalus glaber - naked mole-rat) |
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Variants in Pnpla8
1725 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
AI467579 |
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RefSeq Transcripts | NM_026164 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006516174 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB044139 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC164550 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK004621 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK008684 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK017838 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK029616 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK033938 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK084928 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK145751 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK145776 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK163211 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK168475 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC019364 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC127056 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466526 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CJ112890 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000043082 ⟹ ENSMUSP00000043286 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000122902 ⟹ ENSMUSP00000120877 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000125757 ⟹ ENSMUSP00000117126 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000143771 ⟹ ENSMUSP00000122560 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000156082 ⟹ ENSMUSP00000116922 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000218803 ⟹ ENSMUSP00000151351 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000218954 ⟹ ENSMUSP00000151660 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_026164 ⟹ NP_080440 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006516174 ⟹ XP_006516237 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_080440 | (Get FASTA) | NCBI Sequence Viewer |
XP_006516237 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH19364 | (Get FASTA) | NCBI Sequence Viewer |
AAI27057 | (Get FASTA) | NCBI Sequence Viewer | |
BAB23417 | (Get FASTA) | NCBI Sequence Viewer | |
BAB25832 | (Get FASTA) | NCBI Sequence Viewer | |
BAB97200 | (Get FASTA) | NCBI Sequence Viewer | |
BAE26645 | (Get FASTA) | NCBI Sequence Viewer | |
BAE37236 | (Get FASTA) | NCBI Sequence Viewer | |
BAE40365 | (Get FASTA) | NCBI Sequence Viewer | |
EDL36811 | (Get FASTA) | NCBI Sequence Viewer | |
EDL36812 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000043286 | ||
ENSMUSP00000043286.9 | |||
ENSMUSP00000116922.3 | |||
ENSMUSP00000117126.2 | |||
ENSMUSP00000120877.2 | |||
ENSMUSP00000122560.2 | |||
ENSMUSP00000151351.2 | |||
ENSMUSP00000151660.2 | |||
GenBank Protein | Q8K1N1 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_080440 ⟸ NM_026164 |
- UniProtKB: | Q8VEC0 (UniProtKB/Swiss-Prot), Q3TH33 (UniProtKB/Swiss-Prot), Q9DC20 (UniProtKB/Swiss-Prot), Q8K1N1 (UniProtKB/Swiss-Prot), E9QAC9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006516237 ⟸ XM_006516174 |
- Peptide Label: | isoform X1 |
- UniProtKB: | E9QAC9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSMUSP00000117126 ⟸ ENSMUST00000125757 |
RefSeq Acc Id: | ENSMUSP00000151660 ⟸ ENSMUST00000218954 |
RefSeq Acc Id: | ENSMUSP00000151351 ⟸ ENSMUST00000218803 |
RefSeq Acc Id: | ENSMUSP00000122560 ⟸ ENSMUST00000143771 |
RefSeq Acc Id: | ENSMUSP00000120877 ⟸ ENSMUST00000122902 |
RefSeq Acc Id: | ENSMUSP00000116922 ⟸ ENSMUST00000156082 |
RefSeq Acc Id: | ENSMUSP00000043286 ⟸ ENSMUST00000043082 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8K1N1-F1-model_v2 | AlphaFold | Q8K1N1 | 1-776 | view protein structure |
RGD ID: | 8678214 | ||||||||
Promoter ID: | EPDNEW_M17138 | ||||||||
Type: | initiation region | ||||||||
Name: | Pnpla8_1 | ||||||||
Description: | Mus musculus patatin-like phospholipase domain containing 8 ,mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M17137 EPDNEW_M17136 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6823272 | ||||||||
Promoter ID: | MM_KWN:11563 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, 3T3L1_Day6, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6, Spleen | ||||||||
Transcripts: | NM_026164 | ||||||||
Position: |
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RGD ID: | 6823276 | ||||||||
Promoter ID: | MM_KWN:11565 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day4 | ||||||||
Transcripts: | OTTMUST00000084149 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:1914702 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000036257 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000043082 | ENTREZGENE |
ENSMUST00000043082.16 | UniProtKB/Swiss-Prot | |
ENSMUST00000122902.8 | UniProtKB/TrEMBL | |
ENSMUST00000125757.2 | UniProtKB/TrEMBL | |
ENSMUST00000143771.2 | UniProtKB/TrEMBL | |
ENSMUST00000156082.3 | UniProtKB/TrEMBL | |
ENSMUST00000218803.2 | UniProtKB/TrEMBL | |
ENSMUST00000218954.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | Cytosolic phospholipase A2 catalytic domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | Acyl_Trfase/lysoPLipase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PNPLA8-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PNPLA_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:67452 | UniProtKB/Swiss-Prot |
MGD | MGI:1914702 | ENTREZGENE |
NCBI Gene | 67452 | ENTREZGENE |
PANTHER | CALCIUM-INDEPENDENT PHOSPHOLIPASE A2-GAMMA | UniProtKB/Swiss-Prot |
CALCIUM-INDEPENDENT PHOSPHOLIPASE A2-GAMMA | UniProtKB/Swiss-Prot | |
CALCIUM-INDEPENDENT PHOSPHOLIPASE A2-GAMMA | UniProtKB/TrEMBL | |
CALCIUM-INDEPENDENT PHOSPHOLIPASE A2-GAMMA | UniProtKB/TrEMBL | |
Pfam | Patatin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Pnpla8 | PhenoGen |
PROSITE | PNPLA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF52151 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A1W2P6P7_MOUSE | UniProtKB/TrEMBL |
A0A1W2P7I1_MOUSE | UniProtKB/TrEMBL | |
D3Z5W9_MOUSE | UniProtKB/TrEMBL | |
E9PXB0_MOUSE | UniProtKB/TrEMBL | |
E9QAC9 | ENTREZGENE, UniProtKB/TrEMBL | |
F7B2N8_MOUSE | UniProtKB/TrEMBL | |
PLPL8_MOUSE | UniProtKB/Swiss-Prot | |
Q3TH33 | ENTREZGENE | |
Q8K1N1 | ENTREZGENE | |
Q8VEC0 | ENTREZGENE | |
Q9CVC9_MOUSE | UniProtKB/TrEMBL | |
Q9DC20 | ENTREZGENE | |
UniProt Secondary | Q3TH33 | UniProtKB/Swiss-Prot |
Q8VEC0 | UniProtKB/Swiss-Prot | |
Q9DC20 | UniProtKB/Swiss-Prot |