Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | developmental and epileptic encephalopathy 40 | | ISO | GUF1 (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) | developmental and epileptic encephalopathy 40 | | ISO | GUF1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
2. | MGDs mouse GO annotations | MGD data from the GO Consortium |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:10349636 | PMID:10725249 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11125038 | PMID:11217851 | PMID:12466851 | PMID:12477932 | PMID:14610273 | PMID:15489334 | PMID:16141072 |
PMID:16141073 | PMID:18614015 | PMID:21677750 | PMID:21873635 | PMID:27065197 | PMID:30550785 |
Guf1 (Mus musculus - house mouse) |
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GUF1 (Homo sapiens - human) |
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Guf1 (Rattus norvegicus - Norway rat) |
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Guf1 (Chinchilla lanigera - long-tailed chinchilla) |
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GUF1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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GUF1 (Canis lupus familiaris - dog) |
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Guf1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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GUF1 (Sus scrofa - pig) |
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GUF1 (Chlorocebus sabaeus - green monkey) |
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Guf1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Guf1
346 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 |
RH124611 |
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Gnpda2 |
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RefSeq Transcripts | NM_001310631 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_172711 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006503948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_004942496 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_004942497 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC109186 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK028454 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK032597 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK047411 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK053420 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK081776 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK084627 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK140534 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK160956 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK162869 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK163934 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK165012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC034252 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC039660 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC057962 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BY743247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466524 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000031113 ⟹ ENSMUSP00000031113 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000087228 ⟹ ENSMUSP00000084480 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000125543 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000125660 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000132169 ⟹ ENSMUSP00000144290 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000144363 ⟹ ENSMUSP00000114707 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000154728 ⟹ ENSMUSP00000144246 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000173205 ⟹ ENSMUSP00000133467 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000202180 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001310631 ⟹ NP_001297560 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_172711 ⟹ NP_766299 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006503948 ⟹ XP_006504011 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_004942496 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_004942497 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001297560 | (Get FASTA) | NCBI Sequence Viewer |
NP_766299 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006504011 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH57962 | (Get FASTA) | NCBI Sequence Viewer |
BAC33047 | (Get FASTA) | NCBI Sequence Viewer | |
BAC35380 | (Get FASTA) | NCBI Sequence Viewer | |
BAC39234 | (Get FASTA) | NCBI Sequence Viewer | |
EDL37799 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000031113 | ||
ENSMUSP00000031113.7 | |||
ENSMUSP00000084480 | |||
ENSMUSP00000084480.5 | |||
ENSMUSP00000114707.3 | |||
ENSMUSP00000133467.3 | |||
ENSMUSP00000144246.2 | |||
ENSMUSP00000144290.2 | |||
GenBank Protein | Q8C3X4 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_766299 ⟸ NM_172711 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q6PEN7 (UniProtKB/Swiss-Prot), Q8BPS6 (UniProtKB/Swiss-Prot), Q8C3X4 (UniProtKB/Swiss-Prot), G3UWY0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006504011 ⟸ XM_006503948 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | NP_001297560 ⟸ NM_001310631 |
- Peptide Label: | isoform 2 |
- UniProtKB: | G3UWY0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSMUSP00000114707 ⟸ ENSMUST00000144363 |
RefSeq Acc Id: | ENSMUSP00000031113 ⟸ ENSMUST00000031113 |
RefSeq Acc Id: | ENSMUSP00000144290 ⟸ ENSMUST00000132169 |
RefSeq Acc Id: | ENSMUSP00000084480 ⟸ ENSMUST00000087228 |
RefSeq Acc Id: | ENSMUSP00000144246 ⟸ ENSMUST00000154728 |
RefSeq Acc Id: | ENSMUSP00000133467 ⟸ ENSMUST00000173205 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8C3X4-F1-model_v2 | AlphaFold | Q8C3X4 | 1-651 | view protein structure |
RGD ID: | 6886830 | ||||||||
Promoter ID: | EPDNEW_M6866 | ||||||||
Type: | initiation region | ||||||||
Name: | Guf1_1 | ||||||||
Description: | Mus musculus GUF1 homolog, GTPase , transcript variant 2, mRNA. | ||||||||
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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RGD ID: | 6837707 | ||||||||
Promoter ID: | MM_KWN:42487 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day6, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6, Spleen | ||||||||
Transcripts: | AK014107_3110031N09RIK, ENSMUST00000031113, ENSMUST00000066129, OTTMUST00000068707, OTTMUST00000068708, OTTMUST00000068709, OTTMUST00000068710, UC008XQL.1 | ||||||||
Position: |
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RGD ID: | 6837688 | ||||||||
Promoter ID: | MM_KWN:42488 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Brain | ||||||||
Transcripts: | OTTMUST00000068713 | ||||||||
Position: |
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RGD ID: | 6837167 | ||||||||
Promoter ID: | MM_KWN:42489 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Brain | ||||||||
Transcripts: | UC008XQO.1 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:2140726 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000029208 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000031113 | ENTREZGENE |
ENSMUST00000031113.13 | UniProtKB/Swiss-Prot | |
ENSMUST00000087228 | ENTREZGENE | |
ENSMUST00000087228.11 | UniProtKB/Swiss-Prot | |
ENSMUST00000132169.8 | UniProtKB/TrEMBL | |
ENSMUST00000144363.8 | UniProtKB/TrEMBL | |
ENSMUST00000154728.8 | UniProtKB/TrEMBL | |
ENSMUST00000173205.3 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.30.70.240 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
3.30.70.2570 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
3.40.50.300 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Elongation Factor G (Translational Gtpase), domain 3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Translation factors | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | EF-4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
EFG_III/V | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
EFG_V-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
EFTu-like_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
G_TR_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
LepA_C_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
LepA_CTD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
LepA_IV | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
P-loop_NTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Small_GTP-bd_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TF_GTP-bd_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Transl_B-barrel_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:231279 | UniProtKB/Swiss-Prot |
MGD | MGI:2140726 | ENTREZGENE |
NCBI Gene | 231279 | ENTREZGENE |
PANTHER | PTHR43512 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TRANSLATION FACTOR GUF1, MITOCHONDRIAL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | EFG_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTP_EFTU | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTP_EFTU_D2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
LepA_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Guf1 | PhenoGen |
PRINTS | ELONGATNFCT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | G_TR_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
G_TR_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF50447 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF52540 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF54980 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A0J9YUM0_MOUSE | UniProtKB/TrEMBL |
F6ZM03_MOUSE | UniProtKB/TrEMBL | |
G3UWY0 | ENTREZGENE, UniProtKB/TrEMBL | |
GUF1_MOUSE | UniProtKB/Swiss-Prot | |
Q6PEN7 | ENTREZGENE | |
Q8BPS6 | ENTREZGENE | |
Q8C3X4 | ENTREZGENE | |
Q8C8D6_MOUSE | UniProtKB/TrEMBL | |
UniProt Secondary | Q6PEN7 | UniProtKB/Swiss-Prot |
Q8BPS6 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2015-12-29 | Guf1 | GUF1 homolog, GTPase | GUF1 GTPase homolog (S. cerevisiae) | Symbol and/or name change | 5135510 | APPROVED |