Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Hermansky-Pudlak syndrome | | IAGP | | 13592920 | | MouseDO | | |
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Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Hermansky-Pudlak syndrome | | IAGP | | 13592920 | | MouseDO | | |
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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. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
3. | MGDs mouse GO annotations | MGD data from the GO Consortium |
4. | MGD IEA | MGD IEA |
5. | 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. |
6. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
7. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:7544156 | PMID:7703484 | PMID:8490171 | PMID:8833241 | PMID:8889548 | PMID:9714600 | PMID:10193444 | PMID:10349636 | PMID:10486237 | PMID:10737774 | PMID:11041359 | PMID:11042159 |
PMID:11076861 | PMID:11266472 | PMID:11972527 | PMID:12122117 | PMID:12445206 | PMID:12477932 | PMID:12907454 | PMID:14610273 | PMID:15188402 | PMID:15782199 | PMID:16141072 | PMID:16141073 |
PMID:18685105 | PMID:18715234 | PMID:18799693 | PMID:21267068 | PMID:21419243 | PMID:21677750 | PMID:21776414 | PMID:21873635 | PMID:27626380 | PMID:32325033 |
Rabggta (Mus musculus - house mouse) |
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RABGGTA (Homo sapiens - human) |
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Rabggta (Rattus norvegicus - Norway rat) |
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RABGGTA (Pan paniscus - bonobo/pygmy chimpanzee) |
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RABGGTA (Canis lupus familiaris - dog) |
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Rabggta (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RABGGTA (Sus scrofa - pig) |
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RABGGTA (Chlorocebus sabaeus - green monkey) |
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Rabggta (Heterocephalus glaber - naked mole-rat) |
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Variants in Rabggta
145 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 |
RefSeq Transcripts | NM_001360387 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001360388 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_019519 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_153435 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF127654 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF127655 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF127656 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF127657 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF127658 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF127659 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF127660 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF127661 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF127662 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK002625 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK146917 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK181036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC012214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BY150143 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD776583 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466535 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CT025679 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CX213914 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000062861 ⟹ ENSMUSP00000061498 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000163889 ⟹ ENSMUSP00000128668 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000169237 ⟹ ENSMUSP00000133032 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000226209 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000227061 ⟹ ENSMUSP00000154725 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000227132 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000227617 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000228604 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000228826 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000228899 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001360387 ⟹ NP_001347316 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001360388 ⟹ NP_001347317 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_019519 ⟹ NP_062392 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_153435 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001347316 | (Get FASTA) | NCBI Sequence Viewer |
NP_001347317 | (Get FASTA) | NCBI Sequence Viewer | |
NP_062392 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAF65918 | (Get FASTA) | NCBI Sequence Viewer |
AAF65919 | (Get FASTA) | NCBI Sequence Viewer | |
AAF65920 | (Get FASTA) | NCBI Sequence Viewer | |
AAF65921 | (Get FASTA) | NCBI Sequence Viewer | |
AAF65922 | (Get FASTA) | NCBI Sequence Viewer | |
AAF65923 | (Get FASTA) | NCBI Sequence Viewer | |
AAF65924 | (Get FASTA) | NCBI Sequence Viewer | |
AAH12214 | (Get FASTA) | NCBI Sequence Viewer | |
BAB22240 | (Get FASTA) | NCBI Sequence Viewer | |
BAE27529 | (Get FASTA) | NCBI Sequence Viewer | |
EDL36246 | (Get FASTA) | NCBI Sequence Viewer | |
EDL36247 | (Get FASTA) | NCBI Sequence Viewer | |
EDL36248 | (Get FASTA) | NCBI Sequence Viewer | |
EDL36249 | (Get FASTA) | NCBI Sequence Viewer | |
EDL36250 | (Get FASTA) | NCBI Sequence Viewer | |
EDL36251 | (Get FASTA) | NCBI Sequence Viewer | |
EDL36252 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000061498.9 | ||
ENSMUSP00000128668 | |||
ENSMUSP00000128668.2 | |||
ENSMUSP00000133032 | |||
ENSMUSP00000133032.2 | |||
ENSMUSP00000154725 | |||
ENSMUSP00000154725.2 | |||
GenBank Protein | Q9JHK4 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_062392 ⟸ NM_019519 |
- UniProtKB: | Q9JLX2 (UniProtKB/Swiss-Prot), Q9JHK4 (UniProtKB/Swiss-Prot), Q3UIH7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001347316 ⟸ NM_001360387 |
- UniProtKB: | Q9JHK4 (UniProtKB/Swiss-Prot), Q9JLX2 (UniProtKB/Swiss-Prot), Q3UIH7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001347317 ⟸ NM_001360388 |
- UniProtKB: | Q9JHK4 (UniProtKB/Swiss-Prot), Q9JLX2 (UniProtKB/Swiss-Prot), Q3UIH7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSMUSP00000128668 ⟸ ENSMUST00000163889 |
RefSeq Acc Id: | ENSMUSP00000133032 ⟸ ENSMUST00000169237 |
RefSeq Acc Id: | ENSMUSP00000154725 ⟸ ENSMUST00000227061 |
RefSeq Acc Id: | ENSMUSP00000061498 ⟸ ENSMUST00000062861 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9JHK4-F1-model_v2 | AlphaFold | Q9JHK4 | 1-567 | view protein structure |
RGD ID: | 8682464 | ||||||||
Promoter ID: | EPDNEW_M19263 | ||||||||
Type: | initiation region | ||||||||
Name: | Rabggta_1 | ||||||||
Description: | Mus musculus Rab geranylgeranyl transferase, a subunit , transcriptvariant 1, 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: | 6847135 | ||||||||
Promoter ID: | MM_ACW:16089 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Kidney, Liver | ||||||||
Transcripts: | RABGGTA.ISEP07 | ||||||||
Position: |
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RGD ID: | 6825325 | ||||||||
Promoter ID: | MM_KWN:16985 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4 | ||||||||
Transcripts: | ENSMUST00000062861, NM_019519, UC007UAJ.1, UC007UAL.1, UC007UAM.1 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:1860443 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000040472 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000062861.15 | UniProtKB/TrEMBL |
ENSMUST00000163889 | ENTREZGENE | |
ENSMUST00000163889.3 | UniProtKB/Swiss-Prot | |
ENSMUST00000169237 | ENTREZGENE | |
ENSMUST00000169237.8 | UniProtKB/Swiss-Prot | |
ENSMUST00000227061 | ENTREZGENE | |
ENSMUST00000227061.2 | UniProtKB/Swiss-Prot | |
ENSMUST00000228826 | ENTREZGENE | |
Gene3D-CATH | 3.80.10.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Protein prenylyltransferase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Rab geranylgeranyltransferase alpha-subunit, insert domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | Leu-rich_rpt | UniProtKB/TrEMBL |
LRR_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Prenyl_trans_a | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RabGGT_asu_insert-dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RabGGT_asu_insert-domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:56187 | UniProtKB/Swiss-Prot |
MGD | MGI:1860443 | ENTREZGENE |
NCBI Gene | 56187 | ENTREZGENE |
PANTHER | LRRCAP DOMAIN-CONTAINING PROTEIN | UniProtKB/TrEMBL |
NISCHARIN RELATED | UniProtKB/TrEMBL | |
PROTEIN FARNESYLTRANSFERASE ALPHA SUBUNIT/RAB GERANYLGERANYL TRANSFERASE ALPHA SUBUNIT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PTHR11129:SF2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | LRR_1 | UniProtKB/TrEMBL |
PPTA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RabGGT_insert | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Rabggta | PhenoGen |
PROSITE | PFTA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | Outer arm dynein light chain 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Protein prenylyltransferase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF49594 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A2K6EDL0_MOUSE | UniProtKB/TrEMBL |
PGTA_MOUSE | UniProtKB/Swiss-Prot | |
Q3UIH7 | ENTREZGENE, UniProtKB/TrEMBL | |
Q921J9_MOUSE | UniProtKB/TrEMBL | |
Q9JHK4 | ENTREZGENE | |
Q9JLX2 | ENTREZGENE | |
UniProt Secondary | Q9JLX2 | UniProtKB/Swiss-Prot |