RAP1GAP (RAP1 GTPase activating protein)

Gene

• Entrez ID: 5909
• Gene name: RAP1 GTPase activating protein
• Gene symbol: RAP1GAP
• Synonyms (NCBI Gene): RAP1GA1, RAP1GAP1, RAP1GAPII, RAPGAP
• Chromosome: 1
• Chromosome location: 1p36.12
• Summary: This gene encodes a type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound form and an active GTP-bound form. The product of this g

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024590	hsa-miR-215-5p	Microarray	19074876
MIRT026546	hsa-miR-192-5p	Microarray	19074876
MIRT734048	hsa-miR-3121-3p	Luciferase reporter assay, qRT-PCR, Western blotting	33178761
MIRT1290114	hsa-miR-1913	CLIP-seq
MIRT1290115	hsa-miR-2682	CLIP-seq
MIRT1290116	hsa-miR-3138	CLIP-seq
MIRT1290117	hsa-miR-3189-5p	CLIP-seq
MIRT1290118	hsa-miR-324-3p	CLIP-seq
MIRT1290119	hsa-miR-34a	CLIP-seq
MIRT1290120	hsa-miR-34c-5p	CLIP-seq
MIRT1290121	hsa-miR-3607-5p	CLIP-seq
MIRT1290122	hsa-miR-449a	CLIP-seq
MIRT1290123	hsa-miR-449b	CLIP-seq
MIRT1290124	hsa-miR-449c	CLIP-seq
MIRT1290125	hsa-miR-4520a-3p	CLIP-seq
MIRT1290126	hsa-miR-4690-3p	CLIP-seq
MIRT1290127	hsa-miR-4758-3p	CLIP-seq
MIRT1290128	hsa-miR-4761-3p	CLIP-seq
MIRT1290129	hsa-miR-940	CLIP-seq
MIRT1290114	hsa-miR-1913	CLIP-seq
MIRT1290115	hsa-miR-2682	CLIP-seq
MIRT1290116	hsa-miR-3138	CLIP-seq
MIRT1290118	hsa-miR-324-3p	CLIP-seq
MIRT1290119	hsa-miR-34a	CLIP-seq
MIRT1290120	hsa-miR-34c-5p	CLIP-seq
MIRT1290121	hsa-miR-3607-5p	CLIP-seq
MIRT1290122	hsa-miR-449a	CLIP-seq
MIRT1290123	hsa-miR-449b	CLIP-seq
MIRT1290124	hsa-miR-449c	CLIP-seq
MIRT1290125	hsa-miR-4520a-3p	CLIP-seq
MIRT1290126	hsa-miR-4690-3p	CLIP-seq
MIRT1290130	hsa-miR-4749-3p	CLIP-seq
MIRT1290128	hsa-miR-4761-3p	CLIP-seq
MIRT1290129	hsa-miR-940	CLIP-seq
MIRT1290131	hsa-miR-146b-3p	CLIP-seq
MIRT1290132	hsa-miR-2467-3p	CLIP-seq
MIRT1290133	hsa-miR-3158-5p	CLIP-seq
MIRT1290134	hsa-miR-3173-5p	CLIP-seq
MIRT1290135	hsa-miR-3678-3p	CLIP-seq
MIRT1290126	hsa-miR-4690-3p	CLIP-seq
MIRT1290136	hsa-miR-874	CLIP-seq
MIRT1556950	hsa-miR-1202	CLIP-seq
MIRT1556951	hsa-miR-125a-5p	CLIP-seq
MIRT1556952	hsa-miR-125b	CLIP-seq
MIRT1556953	hsa-miR-3194-5p	CLIP-seq
MIRT1556954	hsa-miR-3972	CLIP-seq
MIRT1556955	hsa-miR-4319	CLIP-seq
MIRT1556956	hsa-miR-4530	CLIP-seq
MIRT1556957	hsa-miR-4732-3p	CLIP-seq
MIRT1556958	hsa-miR-646	CLIP-seq
MIRT1556959	hsa-miR-670	CLIP-seq
MIRT1556956	hsa-miR-4530	CLIP-seq
MIRT1290126	hsa-miR-4690-3p	CLIP-seq
MIRT1556958	hsa-miR-646	CLIP-seq
MIRT1290114	hsa-miR-1913	CLIP-seq
MIRT1290118	hsa-miR-324-3p	CLIP-seq
MIRT2311392	hsa-miR-4257	CLIP-seq
MIRT2311393	hsa-miR-4328	CLIP-seq
MIRT1290126	hsa-miR-4690-3p	CLIP-seq
MIRT1290130	hsa-miR-4749-3p	CLIP-seq
MIRT2311394	hsa-miR-5096	CLIP-seq
MIRT2311395	hsa-miR-767-3p	CLIP-seq
MIRT2393471	hsa-miR-1321	CLIP-seq
MIRT1290114	hsa-miR-1913	CLIP-seq
MIRT2393472	hsa-miR-1915	CLIP-seq
MIRT2393473	hsa-miR-3134	CLIP-seq
MIRT1290118	hsa-miR-324-3p	CLIP-seq
MIRT2393474	hsa-miR-3612	CLIP-seq
MIRT2393475	hsa-miR-4270	CLIP-seq
MIRT2393476	hsa-miR-4441	CLIP-seq
MIRT2393477	hsa-miR-4443	CLIP-seq
MIRT2393478	hsa-miR-4534	CLIP-seq
MIRT1290126	hsa-miR-4690-3p	CLIP-seq
MIRT2393479	hsa-miR-4739	CLIP-seq
MIRT1290130	hsa-miR-4749-3p	CLIP-seq
MIRT2393480	hsa-miR-4756-5p	CLIP-seq
MIRT2393481	hsa-miR-4802-5p	CLIP-seq
MIRT2393482	hsa-miR-650	CLIP-seq
MIRT2457743	hsa-miR-1285	CLIP-seq
MIRT2457744	hsa-miR-3187-5p	CLIP-seq
MIRT2393474	hsa-miR-3612	CLIP-seq
MIRT2457745	hsa-miR-4459	CLIP-seq
MIRT2457746	hsa-miR-4695-5p	CLIP-seq
MIRT2457747	hsa-miR-612	CLIP-seq
MIRT2393482	hsa-miR-650	CLIP-seq
MIRT2457748	hsa-miR-665	CLIP-seq
MIRT2607726	hsa-miR-3649	CLIP-seq
MIRT2607727	hsa-miR-4283	CLIP-seq
MIRT2607728	hsa-miR-4489	CLIP-seq
MIRT2607729	hsa-miR-4685-5p	CLIP-seq
MIRT2607726	hsa-miR-3649	CLIP-seq
MIRT2607727	hsa-miR-4283	CLIP-seq
MIRT2607728	hsa-miR-4489	CLIP-seq
MIRT2607729	hsa-miR-4685-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002250	Process	Adaptive immune response	TAS
GO:0003924	Function	GTPase activity	NAS	10476970
GO:0005096	Function	GTPase activator activity	EXP	16076873
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IDA	15141215
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	TAS	1904317
GO:0005515	Function	Protein binding	IPI	18309292, 20877310, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005769	Component	Early endosome	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA	10476970
GO:0005829	Component	Cytosol	TAS
GO:0006909	Process	Phagocytosis	IEA
GO:0007165	Process	Signal transduction	NAS	10476970
GO:0007165	Process	Signal transduction	TAS	1904317
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	10476970
GO:0016020	Component	Membrane	IEA
GO:0022409	Process	Positive regulation of cell-cell adhesion	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030695	Function	GTPase regulator activity	IEA
GO:0031267	Function	Small GTPase binding	IPI	18309292
GO:0042803	Function	Protein homodimerization activity	IPI	18309292
GO:0043025	Component	Neuronal cell body	IEA
GO:0043087	Process	Regulation of GTPase activity	IDA	18309292
GO:0043547	Process	Positive regulation of GTPase activity	IDA	15141215
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0050766	Process	Positive regulation of phagocytosis	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:1903697	Process	Negative regulation of microvillus assembly	IMP	22797597
GO:1904442	Process	Negative regulation of thyroid gland epithelial cell proliferation	IEA
GO:1990792	Process	Cellular response to glial cell derived neurotrophic factor	IEA

Other IDs

• MIM: 600278
• HGNC: 9858
• e!Ensembl: ENSG00000076864

Protein

• UniProt ID: P47736
• Protein name: Rap1 GTPase-activating protein 1 (Rap1GAP) (Rap1GAP1)
• Protein function: GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state.
• PDB: 1SRQ, 3BRW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02188	GoLoco	1 → 17	GoLoco motif	Motif
  PF02145	Rap_GAP	210 → 391	Rap/ran-GAP	Family

• Tissue specificity: TISSUE SPECIFICITY: Significant expression seen in the brain, kidney and pancreas. Abundant in the cerebral cortex and expressed at much lower levels in the spinal cord. Not detected in the lymphoid tissues. {ECO:0000269|PubMed:9346962}.
• Sequence:

  MIEKMQGSRMDEQRCSFPPPLKTEEDYIPYPSVHEVLGREGPFPLILLPQFGGYWIEGTN
  HEITSIPETEPLQSPTTKVKLECNPTARIYRKHFLGKEHFNYYSLDAALGHLVFSLKYDV
  IGDQEHLRLLLRTKCRTYHDVIPISCLTEFPNVVQMAKLVCEDVNVDRFYPVLYPKASRL
  IVTFDEHVISNNFKFGVIYQKLGQTSEEELFSTNEESPAFVEFLEFLGQKVKLQDFKGFR
  GGLDVTHGQTGTESVYCNFRNKEIMFHVSTKLPYTEGDAQQLQRKRHIGNDIVAVVFQDE
  NTPFVPDMIASNFLHAYVVVQAEGGGPDGPLYKVSVTARDDVPFFGPPLPDPAVFRKGPE
  FQEFLLTKLINAEYACYKAEKFAKLEERTRAALLETLYEELHIHSQSMMGLGGDEDKMEN
  GSGGGGFFESFKRVIRSRSQSMDAMGLSNKKPNTVSTSHSGSFAPNNPDLAKAAGISLIV
  PGKSPTRKKSGPFGSRRSSAIGIENIQEVQEKRESPPAGQKTPDSGHVSQEPKSENSSTQ
  SSPEMPTTKNRAETAAQRAEALKDFSRSSSSASSFASVVEETEGVDGEDTGLESVSSSGT
  PHKRDSFIYSTWLEDSVSTTSGGSSPGPSRSPHPDAGKLGDPACPEIKIQLEASEQHMPQ
  LGC

• Sequence length: 663

Pathways

KEGG:

Rap1 signaling pathway

Reactome:

Rap1 signalling
RET signaling

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
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HAND	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	CTD_human_DG	22614916		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	19066305		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	21367844, 22696507		★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	BEFREE	24368088		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	19066305		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	19066305	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30144784	Associate	★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	19470770	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28196746		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	30144784	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	30144784	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22266190	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21532618	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20439492, 29725465		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23864657	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22266190		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	21367844		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28196746		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	28196746		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	24642466		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	24368088		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	21532618	Inhibit	★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	29514790		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	21832044, 22266190	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	18551404, 22614916		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	23349302	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	18551404	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22614916, 30546468		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28196746		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	21832044, 22266190		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16424023, 21532618, 22614916		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	22614916		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28009991, 29758923		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	20124489, 22614916, 22696507		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21532618, 28196746, 29725465, 29758923		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19147557, 22535842, 22614916, 22948084		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	LHGDN	19147557		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	19147557, 22614916		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	21532618	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	30546468		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	18551404, 30546468		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	18551404		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	18551404	Stimulate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic-Myeloproliferative Diseases	Myelodysplastic-Myeloproliferative Diseases	BEFREE	29514790		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15750623, 16424023, 16436672, 19147557, 20124489, 20439492, 21532618, 21785277, 22614916, 22696507, 23864657, 28009991, 28196746, 29725465, 29758923		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	30144784		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16424023, 21532618, 22614916		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	16424023		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	22614916		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21532618	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	19066305		★☆☆☆☆ Found in Text Mining only
Refractory anemia with ringed sideroblasts	Anemia With Ringed Sideroblasts	BEFREE	30546468		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	21832044		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22266190		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16436672, 21532618		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	16436672		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	21532618	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	16436672		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	21532618		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28009991, 29758923		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28009991	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29758923	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	35429959	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	19066305	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	19066305, 22696507	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	20124489, 21367844, 22614916, 22696507		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CTD_human_DG	22614916		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	CTD_human_DG	22614916		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	17646383, 19066305, 20124489, 22614916, 22696507		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CTD_human_DG	22614916		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	20124489, 22696507	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasms	Thyroid cancer	Pubtator	21367844	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroiditis	Thyroiditis	Pubtator	20124489	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	12469204		★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 2 (disorder)	Tuberous Sclerosis	BEFREE	8519695		★☆☆☆☆ Found in Text Mining only