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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | lethal congenital contracture syndrome 3 | | ISO | RGD:1320550 | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | lethal congenital contracture syndrome 3 | | ISO | RGD:1320550 | 7240710 | | OMIM | | |
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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. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI 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 |
8. | Comprehensive gene review and curation | RGD comprehensive gene curation |
9. | Synaptic vesicle endocytosis. | Saheki Y and De Camilli P, Cold Spring Harb Perspect Biol. 2012 Sep 1;4(9):a005645. doi: 10.1101/cshperspect.a005645. |
10. | PIP kinase Igamma is the major PI(4,5)P(2) synthesizing enzyme at the synapse. | Wenk MR, etal., Neuron. 2001 Oct 11;32(1):79-88. |
PMID:9535851 | PMID:12477932 | PMID:12847086 | PMID:14741049 | PMID:15386003 | PMID:15481814 | PMID:20622009 | PMID:22243752 | PMID:23372168 | PMID:25588945 | PMID:30053369 |
Pip5k1c (Rattus norvegicus - Norway rat) |
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PIP5K1C (Homo sapiens - human) |
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Pip5k1c (Mus musculus - house mouse) |
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Pip5k1c (Chinchilla lanigera - long-tailed chinchilla) |
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PIP5K1C (Pan paniscus - bonobo/pygmy chimpanzee) |
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PIP5K1C (Canis lupus familiaris - dog) |
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Pip5k1c (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PIP5K1C (Sus scrofa - pig) |
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PIP5K1C (Chlorocebus sabaeus - green monkey) |
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Pip5k1c (Heterocephalus glaber - naked mole-rat) |
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Variants in Pip5k1c
99 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 |
RH139092 |
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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 | 35 | 22 | 6 | 19 | 6 | 3 | 74 | 34 | 33 | 11 | ||
Low | 1 | 8 | 35 | 35 | 35 | 8 | 8 | 1 | 8 | 8 | |||
Below cutoff |
RefSeq Transcripts | NM_001009967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001033970 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006240935 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008765101 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008765103 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017594818 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039079020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC094643 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AY850259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC101909 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CB557931 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CB581409 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CB696331 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH474029 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CK366332 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ212655 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JACYVU010000177 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000061159 ⟹ ENSRNOP00000057873 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000088364 ⟹ ENSRNOP00000068990 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000095691 ⟹ ENSRNOP00000086276 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000107025 ⟹ ENSRNOP00000077990 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000115219 ⟹ ENSRNOP00000097462 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001009967 ⟹ NP_001009967 | ||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001033970 ⟹ NP_001029142 | ||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006240935 ⟹ XP_006240997 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008765101 ⟹ XP_008763323 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008765103 ⟹ XP_008763325 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039079020 ⟹ XP_038934948 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001009967 | (Get FASTA) | NCBI Sequence Viewer |
NP_001029142 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006240997 | (Get FASTA) | NCBI Sequence Viewer | |
XP_008763323 | (Get FASTA) | NCBI Sequence Viewer | |
XP_008763325 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038934948 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAI01910 | (Get FASTA) | NCBI Sequence Viewer |
AAW34235 | (Get FASTA) | NCBI Sequence Viewer | |
EDL89167 | (Get FASTA) | NCBI Sequence Viewer | |
Q5I6B8 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001009967 ⟸ NM_001009967 |
- Peptide Label: | isoform c |
- UniProtKB: | Q5I6B8 (UniProtKB/Swiss-Prot), Q3MID5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001029142 ⟸ NM_001033970 |
- Peptide Label: | isoform b |
- UniProtKB: | Q5I6B8 (UniProtKB/Swiss-Prot), Q3MID5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006240997 ⟸ XM_006240935 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_008763325 ⟸ XM_008765103 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_008763323 ⟸ XM_008765101 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000057873 ⟸ ENSRNOT00000061159 |
RefSeq Acc Id: | ENSRNOP00000068990 ⟸ ENSRNOT00000088364 |
RefSeq Acc Id: | XP_038934948 ⟸ XM_039079020 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | ENSRNOP00000097462 ⟸ ENSRNOT00000115219 |
RefSeq Acc Id: | ENSRNOP00000086276 ⟸ ENSRNOT00000095691 |
RefSeq Acc Id: | ENSRNOP00000077990 ⟸ ENSRNOT00000107025 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q5I6B8-F1-model_v2 | AlphaFold | Q5I6B8 | 1-688 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13694977 | ||||||||
Promoter ID: | EPDNEW_R5502 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Pip5k1c_1 | ||||||||
Description: | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma | ||||||||
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) |
AGR Gene | RGD:1309938 | AgrOrtholog |
BioCyc Gene | G2FUF-35013 | BioCyc |
BioCyc Pathway | PWY-6351 [D-myo-inositol (1,4,5)-trisphosphate biosynthesis] | BioCyc |
PWY-6352 [3-phosphoinositide biosynthesis] | BioCyc | |
Ensembl Genes | ENSRNOG00000020577 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Protein | ENSRNOP00000057873 | ENTREZGENE |
ENSRNOP00000057873.2 | UniProtKB/TrEMBL | |
ENSRNOP00000068990.2 | UniProtKB/TrEMBL | |
ENSRNOP00000077990.1 | UniProtKB/TrEMBL | |
ENSRNOP00000086276 | ENTREZGENE | |
ENSRNOP00000086276.1 | UniProtKB/TrEMBL | |
ENSRNOP00000097462 | ENTREZGENE | |
ENSRNOP00000097462.1 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSRNOT00000061159 | ENTREZGENE |
ENSRNOT00000061159.5 | UniProtKB/TrEMBL | |
ENSRNOT00000088364.2 | UniProtKB/TrEMBL | |
ENSRNOT00000095691 | ENTREZGENE | |
ENSRNOT00000095691.1 | UniProtKB/TrEMBL | |
ENSRNOT00000107025.1 | UniProtKB/TrEMBL | |
ENSRNOT00000115219 | ENTREZGENE | |
ENSRNOT00000115219.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2-Layer Sandwich | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
3.30.800.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
IMAGE_CLONE | IMAGE:7933923 | IMAGE-MGC_LOAD |
InterPro | PInositol-4-P-5-kinase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PInositol-4-P-5-kinase_core | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PInositol-4-P-5-kinase_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:314641 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MGC_CLONE | MGC:124518 | IMAGE-MGC_LOAD |
NCBI Gene | 314641 | ENTREZGENE |
PANTHER | PHOSPHATIDYLINOSITOL 4-PHOSPHATE 5-KINASE TYPE-1 GAMMA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR23086 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | PIP5K | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Pip5k1c | PhenoGen |
PROSITE | PIPK | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | PIPKc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SAICAR synthase-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0G2JU72_RAT | UniProtKB/TrEMBL |
A0A8I5XWP7_RAT | UniProtKB/TrEMBL | |
A0A8I6A3A3_RAT | UniProtKB/TrEMBL | |
A0A8I6ARF9_RAT | UniProtKB/TrEMBL | |
F1M8H6_RAT | UniProtKB/TrEMBL | |
PI51C_RAT | UniProtKB/Swiss-Prot | |
Q3MID5 | ENTREZGENE, UniProtKB/TrEMBL | |
Q5I6B8 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-04-20 | Pip5k1c | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma | Pip5k1c | phosphatidylinositol-4-phosphate 5-kinase, type I, gamma | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-09-09 | Pip5k1c | phosphatidylinositol-4-phosphate 5-kinase, type I, gamma | Pip5k1c | phosphatidylinositol-4-phosphate 5-kinase, type 1 gamma | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-05-15 | Pip5k1c | phosphatidylinositol-4-phosphate 5-kinase, type 1 gamma | Pip5k1c | phosphatidylinositol-4-phosphate 5-kinase, type I, gamma | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2005-12-06 | Pip5k1c | phosphatidylinositol-4-phosphate 5-kinase, type I, gamma | Pip5k1c_predicted | phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (predicted) | Symbol and Name updated | 1559027 | APPROVED |
2005-01-12 | Pip5k1c_predicted | phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |