Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Fleck corneal dystrophy | | ISO | PIKFYVE (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) | Fleck corneal dystrophy | | ISO | PIKFYVE (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
4. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
5. | GOA pipeline | RGD automated data pipeline |
6. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
7. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:9858586 | PMID:11112776 | PMID:12477932 | PMID:14551253 | PMID:15046600 | PMID:15546921 | PMID:16448788 | PMID:16954148 | PMID:17556371 | PMID:17909029 | PMID:19056739 | PMID:19841139 |
PMID:20110679 | PMID:22028665 | PMID:23793062 | PMID:25578879 | PMID:26232680 | PMID:32221306 |
Pikfyve (Rattus norvegicus - Norway rat) |
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PIKFYVE (Homo sapiens - human) |
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Pikfyve (Mus musculus - house mouse) |
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Pikfyve (Chinchilla lanigera - long-tailed chinchilla) |
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PIKFYVE (Pan paniscus - bonobo/pygmy chimpanzee) |
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PIKFYVE (Canis lupus familiaris - dog) |
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Pikfyve (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PIKFYVE (Sus scrofa - pig) |
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PIKFYVE (Chlorocebus sabaeus - green monkey) |
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Pikfyve (Heterocephalus glaber - naked mole-rat) |
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Variants in Pikfyve
319 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 |
D9Rat176 |
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RH130569 |
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RH143099 |
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AI179196 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 2 | 5 | 28 | 12 | 19 | 12 | 5 | 5 | 74 | 35 | 37 | 11 | 5 |
Low | 1 | 38 | 29 | 29 | 29 | 3 | 6 | 4 | 3 | ||||
Below cutoff |
RefSeq Transcripts | NM_001427277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006226854 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006226855 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006226856 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006226857 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006226859 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006226860 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006226861 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006226862 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006245071 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006245072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006245073 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006245074 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006245076 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006245077 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006245079 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008758042 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008767170 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039084595 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039084596 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039084597 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063267219 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063267220 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063267221 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063267222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063267223 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063267224 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063267225 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | BC089984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH473965 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000020447 ⟹ ENSRNOP00000020447 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000100337 ⟹ ENSRNOP00000088892 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000117064 ⟹ ENSRNOP00000078503 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000117606 ⟹ ENSRNOP00000076715 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001427277 ⟹ NP_001414206 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_006245071 ⟹ XP_006245133 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006245072 ⟹ XP_006245134 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006245073 ⟹ XP_006245135 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006245074 ⟹ XP_006245136 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006245076 ⟹ XP_006245138 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006245077 ⟹ XP_006245139 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006245079 ⟹ XP_006245141 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039084595 ⟹ XP_038940523 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039084596 ⟹ XP_038940524 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039084597 ⟹ XP_038940525 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063267219 ⟹ XP_063123289 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063267220 ⟹ XP_063123290 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063267221 ⟹ XP_063123291 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063267222 ⟹ XP_063123292 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063267223 ⟹ XP_063123293 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063267224 ⟹ XP_063123294 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063267225 ⟹ XP_063123295 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001414206 | (Get FASTA) | NCBI Sequence Viewer |
XP_006245133 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006245134 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006245135 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006245136 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006245138 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006245139 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006245141 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038940523 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038940524 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038940525 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063123289 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063123290 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063123291 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063123292 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063123293 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063123294 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063123295 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | EDL98860 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Protein | ENSRNOP00000020447 | ||
ENSRNOP00000020447.6 | |||
ENSRNOP00000076715 | |||
ENSRNOP00000076715.1 | |||
ENSRNOP00000078503 | |||
ENSRNOP00000078503.1 | |||
ENSRNOP00000088892 | |||
ENSRNOP00000088892.1 |
RefSeq Acc Id: | XP_006245138 ⟸ XM_006245076 |
- Peptide Label: | isoform X4 |
- UniProtKB: | D3ZYT8 (UniProtKB/TrEMBL), A0A8I5ZL06 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006245139 ⟸ XM_006245077 |
- Peptide Label: | isoform X4 |
- UniProtKB: | D3ZYT8 (UniProtKB/TrEMBL), A0A8I5ZL06 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006245136 ⟸ XM_006245074 |
- Peptide Label: | isoform X4 |
- UniProtKB: | D3ZYT8 (UniProtKB/TrEMBL), A0A8I5ZL06 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006245135 ⟸ XM_006245073 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8I5ZL06 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006245141 ⟸ XM_006245079 |
- Peptide Label: | isoform X8 |
- UniProtKB: | A6IPK0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006245134 ⟸ XM_006245072 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I5ZL06 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006245133 ⟸ XM_006245071 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8I5YBG1 (UniProtKB/TrEMBL), A0A8I5ZL06 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000020447 ⟸ ENSRNOT00000020447 |
RefSeq Acc Id: | XP_038940523 ⟸ XM_039084595 |
- Peptide Label: | isoform X4 |
- UniProtKB: | D3ZYT8 (UniProtKB/TrEMBL), A0A8I5ZL06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038940524 ⟸ XM_039084596 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A8I5ZL06 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038940525 ⟸ XM_039084597 |
- Peptide Label: | isoform X12 |
RefSeq Acc Id: | ENSRNOP00000076715 ⟸ ENSRNOT00000117606 |
RefSeq Acc Id: | ENSRNOP00000088892 ⟸ ENSRNOT00000100337 |
RefSeq Acc Id: | ENSRNOP00000078503 ⟸ ENSRNOT00000117064 |
RefSeq Acc Id: | XP_063123289 ⟸ XM_063267219 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_063123290 ⟸ XM_063267220 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_063123292 ⟸ XM_063267222 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | NP_001414206 ⟸ NM_001427277 |
RefSeq Acc Id: | XP_063123291 ⟸ XM_063267221 |
- Peptide Label: | isoform X9 |
- UniProtKB: | A0A8I6AAS9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063123293 ⟸ XM_063267223 |
- Peptide Label: | isoform X11 |
RefSeq Acc Id: | XP_063123294 ⟸ XM_063267224 |
- Peptide Label: | isoform X13 |
RefSeq Acc Id: | XP_063123295 ⟸ XM_063267225 |
- Peptide Label: | isoform X14 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-D3ZYT8-F1-model_v2 | AlphaFold | D3ZYT8 | 1-2109 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:1592067 | AgrOrtholog |
BioCyc Gene | G2FUF-27299 | BioCyc |
BioCyc Pathway | PWY-6352 [3-phosphoinositide biosynthesis] | BioCyc |
BioCyc Pathway Image | PWY-6352 | BioCyc |
Ensembl Genes | ENSRNOG00000015158 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000020447.9 | UniProtKB/TrEMBL |
ENSRNOT00000100337.1 | UniProtKB/TrEMBL | |
ENSRNOT00000117064.1 | UniProtKB/TrEMBL | |
ENSRNOT00000117606.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.10.10 | UniProtKB/TrEMBL |
2-Layer Sandwich | UniProtKB/TrEMBL | |
3.30.40.10 | UniProtKB/TrEMBL | |
3.30.800.10 | UniProtKB/TrEMBL | |
3.50.7.10 | UniProtKB/TrEMBL | |
InterPro | Cpn60/TCP-1 | UniProtKB/TrEMBL |
DEP_dom | UniProtKB/TrEMBL | |
GroEL-like_apical_dom | UniProtKB/TrEMBL | |
PIKfyve | UniProtKB/TrEMBL | |
PIKfyve_DEP | UniProtKB/TrEMBL | |
PIKfyve_PIPKc | UniProtKB/TrEMBL | |
PInositol-4-P-4/5-kinase_C_sf | UniProtKB/TrEMBL | |
PInositol-4-P-5-kinase_core | UniProtKB/TrEMBL | |
PInositol-4-P-5-kinase_N | UniProtKB/TrEMBL | |
TCP-1-like_intermed | UniProtKB/TrEMBL | |
WH-like_DNA-bd_sf | UniProtKB/TrEMBL | |
WH_DNA-bd_sf | UniProtKB/TrEMBL | |
Znf_FYVE | UniProtKB/TrEMBL | |
Znf_FYVE-rel | UniProtKB/TrEMBL | |
Znf_FYVE_PHD | UniProtKB/TrEMBL | |
Znf_RING/FYVE/PHD | UniProtKB/TrEMBL | |
KEGG Report | rno:316457 | UniProtKB/TrEMBL |
NCBI Gene | 316457 | ENTREZGENE |
PANTHER | 1-PHOSPHATIDYLINOSITOL 3-PHOSPHATE 5-KINASE | UniProtKB/TrEMBL |
PTHR46715 | UniProtKB/TrEMBL | |
Pfam | Cpn60_TCP1 | UniProtKB/TrEMBL |
DEP | UniProtKB/TrEMBL | |
FYVE | UniProtKB/TrEMBL | |
PIP5K | UniProtKB/TrEMBL | |
PhenoGen | Pikfyve | PhenoGen |
PROSITE | DEP | UniProtKB/TrEMBL |
PIPK | UniProtKB/TrEMBL | |
ZF_FYVE | UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000015158 | RatGTEx |
SMART | DEP | UniProtKB/TrEMBL |
FYVE | UniProtKB/TrEMBL | |
PIPKc | UniProtKB/TrEMBL | |
Superfamily-SCOP | FYVE_PHD_ZnF | UniProtKB/TrEMBL |
SAICAR synthase-like | UniProtKB/TrEMBL | |
SSF46785 | UniProtKB/TrEMBL | |
SSF52029 | UniProtKB/TrEMBL | |
SSF54849 | UniProtKB/TrEMBL | |
UniProt | A0A8I5YBG1 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8I5ZL06 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I6AAS9 | ENTREZGENE, UniProtKB/TrEMBL | |
A6IPK0 | ENTREZGENE, UniProtKB/TrEMBL | |
D3ZYT8 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-02-19 | Pikfyve | phosphoinositide kinase, FYVE-type zinc finger containing | Pikfyve | phosphoinositide kinase, FYVE finger containing | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2010-04-23 | Pikfyve | phosphoinositide kinase, FYVE finger containing | Pip5k3 | phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-03-05 | Pip5k3 | phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III | LOC316457 | similar to phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III isoform 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2006-11-20 | LOC316457 | similar to phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III isoform 2 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |