RABGGTA (Rab geranylgeranyltransferase subunit alpha)

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Gene Gene information from NCBI Gene database.
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Entrez ID 5875
Gene name Rab geranylgeranyltransferase subunit alpha
Gene symbol RABGGTA
Synonyms (NCBI Gene)
PTAR3
Chromosome 14
Chromosome location 14q12
miRNA miRNA information provided by mirtarbase database.
3
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miRTarBase ID miRNA Experiments Reference
MIRT029542 hsa-miR-26b-5p Microarray 19088304
MIRT2310412 hsa-miR-1910 CLIP-seq
MIRT2310413 hsa-miR-455-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23 Show/Hide all (23)
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GO ID Ontology Definition Evidence Reference
GO:0004659 Function Prenyltransferase activity IEA
GO:0004661 Function Protein geranylgeranyltransferase activity IEA
GO:0004663 Function Rab geranylgeranyltransferase activity IBA
GO:0004663 Function Rab geranylgeranyltransferase activity IEA
GO:0004663 Function Rab geranylgeranyltransferase activity ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
601905 9795 ENSG00000100949
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92696
Protein name Geranylgeranyl transferase type-2 subunit alpha (EC 2.5.1.60) (Geranylgeranyl transferase type II subunit alpha) (Rab geranyl-geranyltransferase subunit alpha) (Rab GG transferase alpha) (Rab GGTase alpha) (Rab geranylgeranyltransferase subunit alpha)
Protein function Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of Rab proteins with the C-terminal sequence -XXCC, -XCXC and -CCXX, such as RAB1A, RAB3A, RAB5A and RAB7A.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01239 PPTA 160 → 191 Protein prenyltransferase alpha subunit repeat Repeat
PF01239 PPTA 89 → 120 Protein prenyltransferase alpha subunit repeat Repeat
PF01239 PPTA 208 → 239 Protein prenyltransferase alpha subunit repeat Repeat
PF01239 PPTA 125 → 156 Protein prenyltransferase alpha subunit repeat Repeat
PF01239 PPTA 45 → 76 Protein prenyltransferase alpha subunit repeat Repeat
PF07711 RabGGT_insert 244 → 346 Rab geranylgeranyl transferase alpha-subunit, insert domain Domain
Sequence 
MHGRLKVKTSEEQAEAKRLEREQKLKLYQSATQAVFQKRQAGELDESVLELTSQILGANP
DFATLWNCRREVLQQLETQKSPEELAALVKAELGFLESCLRVNPKSYGTWHHRCWLLGRL
PEPNWTRELELCARFLEVDERNFHCWDYRRFVATQAAVPPAEELAFTDSLITRNFSNYSS
WHYRSCLLPQLHPQPDSGPQGRLPEDVLLKELELVQNAFFTDPNDQSAWFYHRWLLGRAD
PQDALRCLHVSRDEACLTVSFSRPLLVGSRMEILLLMVDDSPLIVEWRTPDGRNRPSHVW
LCDLPAASLNDQLPQHTFRVIWTAGDVQKECVLLKGRQEGWCRDSTTDEQLFRCELSVEK
STVLQSELESCKELQELEPENKWCLLTIILLMRALDPLLYEKETLQYFQTLKAVDPMRAT
YLDDLRSKFLLENSVLKMEYAEVRVLHLAHKDLTVLCHLEQLLLVTHLDLSHNRLRTLPP
ALAALRCLEVLQASDNAIESLDGVTNLPRLQELLLCNNRLQQPAVLQPLASCPRLVLLNL
QGNPLCQAVGILEQLAELLPSVSSVLT
Sequence length 567
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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Reactome Pathway
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
RAB geranylgeranylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Gastric cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Gray Platelet Syndrome Gray Platelet Syndrome BEFREE 11136552
★★★★★
★☆☆☆☆
Found in Text Mining only
Multiple Sclerosis Multiple Sclerosis BEFREE 29574663
★★★★★
★☆☆☆☆
Found in Text Mining only
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RABGGTB 2 shared pathwaysTP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain, RAB geranylgeranylation Related via 2 shared pathways including TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain, RAB geranylgeranylation. CHM 2 shared pathwaysTP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain, RAB geranylgeranylation Related via 2 shared pathways including TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain, RAB geranylgeranylation.
Chorioretinal atrophy Linked via 1 of 2 related genesCHM Choroideremia Linked via 1 of 2 related genesCHM Retinitis pigmentosa Linked via 1 of 2 related genesCHM