RAB39A (RAB39A, member RAS oncogene family)

Gene

• Entrez ID: 54734
• Gene name: RAB39A, member RAS oncogene family
• Gene symbol: RAB39A
• Synonyms (NCBI Gene): K28, RAB39
• Chromosome: 11
• Chromosome location: 11q22.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT128307	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT128307	hsa-miR-142-3p	HITS-CLIP	22473208

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003925	Function	G protein activity	IDA	37821429
GO:0005515	Function	Protein binding	IPI	24349490, 25416956, 26824392, 30021884, 32296183, 37821429
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	NAS	9119394
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	37821429
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0006914	Process	Autophagy	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0032482	Process	Rab protein signal transduction	IEA
GO:0045335	Component	Phagocytic vesicle	IDA	21255211
GO:0046872	Function	Metal ion binding	IEA
GO:0061909	Process	Autophagosome-lysosome fusion	IMP	37821429
GO:0090383	Process	Phagosome acidification	IMP	21255211
GO:0090385	Process	Phagosome-lysosome fusion	IBA
GO:0090385	Process	Phagosome-lysosome fusion	IMP	21255211
GO:0120281	Component	Autolysosome membrane	IDA	37821429
GO:0120281	Component	Autolysosome membrane	IEA

Other IDs

• MIM: 619558
• HGNC: 16521
• e!Ensembl: ENSG00000179331

Protein

• UniProt ID: Q14964
• Protein name: Ras-related protein Rab-39A (Rab-39) (EC 3.6.5.2)
• Protein function: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:21255211). Rabs cycle between an inactive GDP-bound form and an active GTP-bound form
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00071	Ras	10 → 177	Ras family	Domain

• Sequence:

  METIWIYQFRLIVIGDSTVGKSCLLHRFTQGRFPGLRSPACDPTVGVDFFSRLLEIEPGK
  RIKLQLWDTAGQERFRSITRSYYRNSVGGFLVFDITNRRSFEHVKDWLEEAKMYVQPFRI
  VFLLVGHKCDLASQRQVTREEAEKLSADCGMKYIETSAKDATNVEESFTILTRDIYELIK
  KGEICIQDGWEGVKSGFVPNTVHSSEEAVKPRKECFC

• Sequence length: 217

Pathways

Reactome:

Intra-Golgi traffic
RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
cervical cancer	Cervical Cancer	BEFREE	30826396		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30826396		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29515775, 29648608, 30826396		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30826396		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34550275	Associate	★☆☆☆☆ Found in Text Mining only