RABL6 (RAB, member RAS oncogene family like 6)

Gene

• Entrez ID: 55684
• Gene name: RAB, member RAS oncogene family like 6
• Gene symbol: RABL6
• Synonyms (NCBI Gene): C9orf86, PARF, RBEL1, pp8875
• Chromosome: 9
• Chromosome location: 9q34.3
• Summary: This gene encodes a member of the Ras superfamily of small GTPases. The encoded protein binds to both GTP and GDP and may play a role in cell growth and survival. Overexpression of this gene may play a role in breast cancer tumorigenesis, and pseudogenes

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051536	hsa-let-7e-5p	CLASH	23622248
MIRT051536	hsa-let-7e-5p	CLASH	23622248
MIRT047585	hsa-miR-10a-5p	CLASH	23622248
MIRT046592	hsa-miR-222-3p	CLASH	23622248
MIRT045800	hsa-miR-191-5p	CLASH	23622248
MIRT042281	hsa-miR-484	CLASH	23622248
MIRT039336	hsa-miR-425-5p	CLASH	23622248
MIRT036470	hsa-miR-1226-3p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	12646258, 12970870, 16189514, 32814053
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IDA	17962191
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17962191
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	17962191
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0034451	Component	Centriolar satellite	IDA
GO:0036064	Component	Ciliary basal body	IDA

Other IDs

• MIM: 610615
• HGNC: 24703
• e!Ensembl: ENSG00000196642

Protein

• UniProt ID: Q3YEC7
• Protein name: Rab-like protein 6 (GTP-binding protein Parf) (Partner of ARF) (Rab-like protein 1) (RBEL1)
• Protein function: May enhance cellular proliferation. May reduce growth inhibitory activity of CDKN2A.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08477	Roc	45 → 111		Domain

• Sequence:

  MFSALKKLVGSDQAPGRDKNIPAGLQSMNQALQRRFAKGVQYNMKIVIRGDRNTGKTALW
  HRLQGRPFVEEYIPTQEIQVTSIHWSYKTTDDIVKVEVWDVVDKGKCKKRGDGLKMENDP
  QEAESEMALDAEFLDVYKNCNGVVMMFDITKQWTFNYILRELPKVPTHVPVCVLGNYRDM
  GEHRVILPDDVRDFIDNLDRPPGSSYFRYAESSMKNSFGLKYLHKFFNIPFLQLQRETLL
  RQLETNQLDMDATLEELSVQQETEDQNYGIFLEMMEARSRGHASPLAANGQSPSPGSQSP
  VVPAGAVSTGSSSPGTPQPAPQLPLNAAPPSSVPPVPPSEALPPPACPSAPAPRRSIISR
  LFGTSPATEAAPPPPEPVPAAEGPATVQSVEDFVPDDRLDRSFLEDTTPARDEKKVGAKA
  AQQDSDSDGEALGGNPMVAGFQDDVDLEDQPRGSPPLPAGPVPSQDITLSSEEEAEVAAP
  TKGPAPAPQQCSEPETKWSSIPASKPRRGTAPTRTAAPPWPGGVSVRTGPEKRSSTRPPA
  EMEPGKGEQASSSESDPEGPIAAQMLSFVMDDPDFESEGSDTQRRADDFPVRDDPSDVTD
  EDEGPAEPPPPPKLPLPAFRLKNDSDLFGLGLEEAGPKESSEEGKEGKTPSKEKKKKKKK
  GKEEEEKAAKKKSKHKKSKDKEEGKEERRRRQQRPPRSRERTAADELEAFLGGGAPGGRH
  PGGGDYEEL

• Sequence length: 729

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
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	17962191		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17962191	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34262080	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	26748598		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32600359	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disabilities	Learning Disorders	BEFREE	26748598		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17962191		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23977139		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23977139		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26676380		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	38243290	Stimulate	★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only