Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8934
Gene name	RAB29, member RAS oncogene family
Gene symbol	RAB29
Synonyms (NCBI Gene)	RAB7LRAB7L1
Chromosome	1
Chromosome location	1q32.1

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT741809	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT741810	hsa-miR-711	HITS-CLIP	23824327

Show/Hide all (63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0001921	Process	Positive regulation of receptor recycling	IMP	26021297
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	TAS	9284931
GO:0005515	Function	Protein binding	IPI	24510904, 26021297, 31515488, 31552791, 32296183
GO:0005525	Function	GTP binding	IDA	24510904
GO:0005525	Function	GTP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	24788816
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	25767741
GO:0005769	Component	Early endosome	IDA	26021297
GO:0005769	Component	Early endosome	IEA
GO:0005773	Component	Vacuole	IDA	22042847
GO:0005773	Component	Vacuole	IEA
GO:0005794	Component	Golgi apparatus	IDA	22042847
GO:0005794	Component	Golgi apparatus	IEA
GO:0005801	Component	Cis-Golgi network	IDA	26021297
GO:0005802	Component	Trans-Golgi network	IBA
GO:0005802	Component	Trans-Golgi network	IDA	24510904, 24788816, 26021297
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006886	Process	Intracellular protein transport	IBA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	24788816
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007005	Process	Mitochondrion organization	IMP	25767741
GO:0007030	Process	Golgi organization	IMP	24510904, 24788816
GO:0007416	Process	Synapse assembly	IMP	26021297
GO:0009617	Process	Response to bacterium	IDA	22042847
GO:0010977	Process	Negative regulation of neuron projection development	IDA	24510904
GO:0012505	Component	Endomembrane system	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0019003	Function	GDP binding	IDA	24510904
GO:0019003	Function	GDP binding	IEA
GO:0019894	Function	Kinesin binding	IPI	26021297
GO:0030154	Process	Cell differentiation	IEA
GO:0031090	Component	Organelle membrane	IEA
GO:0031267	Function	Small GTPase binding	IDA	26021297
GO:0031965	Component	Nuclear membrane	IDA
GO:0031982	Component	Vesicle	IEA
GO:0032438	Process	Melanosome organization	IBA
GO:0042110	Process	T cell activation	IMP	26021297
GO:0042147	Process	Retrograde transport, endosome to Golgi	IMP	24788816
GO:0042470	Component	Melanosome	IBA
GO:0044788	Process	Host-mediated perturbation of viral process	IMP	19376974
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	IMP	26021297
GO:0055037	Component	Recycling endosome	IDA	26021297
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070840	Function	Dynein complex binding	IDA	26021297
GO:0072657	Process	Protein localization to membrane	IEA
GO:0072657	Process	Protein localization to membrane	IMP	25767741
GO:0090316	Process	Positive regulation of intracellular protein transport	IMP	24788816
GO:0097708	Component	Intracellular vesicle	IDA	26021297
GO:1903441	Process	Protein localization to ciliary membrane	ISS
GO:1905279	Process	Regulation of retrograde transport, endosome to Golgi	IEA
GO:1990748	Process	Cellular detoxification	IMP	22042847

MIM	HGNC	e!Ensembl
603949	9789	ENSG00000117280

O14966

Protein name

Ras-related protein Rab-7L1 (Rab-7-like protein 1) (Ras-related protein Rab-29)

Protein function

The small GTPases Rab are key regulators in vesicle trafficking (PubMed:24788816). Essential for maintaining the integrity of the endosome-trans-Golgi network structure (By similarity). Together with LRRK2, plays a role in the retrograde traffic

PDB

6HH2 , 8FO2 , 8FO8 , 8FO9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00071	Ras	9 → 175	Ras family	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:24788816}.

Sequence

MGSRDHLFKVLVVGDAAVGKTSLVQRYSQDSFSKHYKSTVGVDFALKVLQWSDYEIVRLQ
LWDIAGQERFTSMTRLYYRDASACVIMFDVTNATTFSNSQRWKQDLDSKLTLPNGEPVPC
LLLANKCDLSPWAVSRDQIDRFSKENGFTGWTETSVKENKNINEAMRVLIEKMMRNSTED
IMSLSTQGDYINLQTKSSSWSCC

Sequence length

203

Interactions

View interactions

	Reactome
			RAB geranylgeranylation

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)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RAB29-related disorder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28334866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	34167169	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	28334866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	34167169	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28334866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	37454237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	20683486, 21812739, 22232350, 23395371, 23820587, 25040112, 25855069, 26344175, 26738859, 27925204, 28245721, 29177506, 29212815, 31818509		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	20683486, 25966061, 29177506, 33436766, 33523105, 34040254, 36116551, 37454237, 40053464	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pick Disease of the Brain	Pica	BEFREE	28334866		★★★★★ ★☆☆☆☆ Found in Text Mining only

RAB29 (RAB29, member RAS oncogene family)