ARAP1 (ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1)

Gene

• Entrez ID: 116985
• Gene name: ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1
• Gene symbol: ARAP1
• Synonyms (NCBI Gene): CENTD2, cnt-d2
• Chromosome: 11
• Chromosome location: 11q13.4
• Summary: The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activit

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT042346	hsa-miR-484	CLASH	23622248
MIRT040872	hsa-miR-18a-3p	CLASH	23622248
MIRT646433	hsa-miR-4323	HITS-CLIP	23824327
MIRT646432	hsa-miR-4267	HITS-CLIP	23824327
MIRT646431	hsa-miR-938	HITS-CLIP	23824327
MIRT646430	hsa-miR-6886-3p	HITS-CLIP	23824327
MIRT646428	hsa-miR-3157-3p	HITS-CLIP	23824327
MIRT646429	hsa-miR-874-3p	HITS-CLIP	23824327
MIRT738040	hsa-miR-4641	HITS-CLIP	33718276
MIRT738036	hsa-miR-4457	HITS-CLIP	33718276
MIRT738037	hsa-miR-4758-3p	HITS-CLIP	33718276
MIRT646433	hsa-miR-4323	HITS-CLIP	33718276
MIRT738038	hsa-miR-766	HITS-CLIP	33718276
MIRT738039	hsa-miR-3925-3p	HITS-CLIP	33718276
MIRT738040	hsa-miR-4641	HITS-CLIP	33718276
MIRT646433	hsa-miR-4323	HITS-CLIP	23824327
MIRT646432	hsa-miR-4267	HITS-CLIP	23824327
MIRT646431	hsa-miR-938	HITS-CLIP	23824327
MIRT646430	hsa-miR-6886-3p	HITS-CLIP	23824327
MIRT646428	hsa-miR-3157-3p	HITS-CLIP	23824327
MIRT646429	hsa-miR-874-3p	HITS-CLIP	23824327
MIRT2173659	hsa-miR-1245b-5p	CLIP-seq
MIRT2173660	hsa-miR-1972	CLIP-seq
MIRT2173661	hsa-miR-3142	CLIP-seq
MIRT2173662	hsa-miR-3936	CLIP-seq
MIRT2173663	hsa-miR-432	CLIP-seq
MIRT2173664	hsa-miR-4650-5p	CLIP-seq
MIRT2477247	hsa-miR-1224-3p	CLIP-seq
MIRT2173659	hsa-miR-1245b-5p	CLIP-seq
MIRT2477248	hsa-miR-1260	CLIP-seq
MIRT2477249	hsa-miR-1260b	CLIP-seq
MIRT2477250	hsa-miR-1265	CLIP-seq
MIRT2477251	hsa-miR-1280	CLIP-seq
MIRT2477252	hsa-miR-149	CLIP-seq
MIRT2173660	hsa-miR-1972	CLIP-seq
MIRT2477253	hsa-miR-2392	CLIP-seq
MIRT2477254	hsa-miR-24	CLIP-seq
MIRT2477255	hsa-miR-299-3p	CLIP-seq
MIRT2173661	hsa-miR-3142	CLIP-seq
MIRT2477256	hsa-miR-3151	CLIP-seq
MIRT2477257	hsa-miR-342-5p	CLIP-seq
MIRT2477258	hsa-miR-3605-5p	CLIP-seq
MIRT2477259	hsa-miR-370	CLIP-seq
MIRT2477260	hsa-miR-3940-5p	CLIP-seq
MIRT2477261	hsa-miR-4265	CLIP-seq
MIRT2477262	hsa-miR-4284	CLIP-seq
MIRT2477263	hsa-miR-4296	CLIP-seq
MIRT2173663	hsa-miR-432	CLIP-seq
MIRT2477264	hsa-miR-4322	CLIP-seq
MIRT2477265	hsa-miR-4447	CLIP-seq
MIRT2477266	hsa-miR-4472	CLIP-seq
MIRT2477267	hsa-miR-4507	CLIP-seq
MIRT2477268	hsa-miR-4534	CLIP-seq
MIRT2173664	hsa-miR-4650-5p	CLIP-seq
MIRT2477269	hsa-miR-4651	CLIP-seq
MIRT2477270	hsa-miR-4664-5p	CLIP-seq
MIRT2477271	hsa-miR-4764-5p	CLIP-seq
MIRT2477272	hsa-miR-4802-5p	CLIP-seq
MIRT2477273	hsa-miR-491-5p	CLIP-seq
MIRT2477274	hsa-miR-501-3p	CLIP-seq
MIRT2477275	hsa-miR-502-3p	CLIP-seq
MIRT2477276	hsa-miR-532-3p	CLIP-seq
MIRT2477277	hsa-miR-608	CLIP-seq
MIRT2477278	hsa-miR-765	CLIP-seq
MIRT2477247	hsa-miR-1224-3p	CLIP-seq
MIRT2173659	hsa-miR-1245b-5p	CLIP-seq
MIRT2477248	hsa-miR-1260	CLIP-seq
MIRT2477249	hsa-miR-1260b	CLIP-seq
MIRT2477250	hsa-miR-1265	CLIP-seq
MIRT2477251	hsa-miR-1280	CLIP-seq
MIRT2477252	hsa-miR-149	CLIP-seq
MIRT2173660	hsa-miR-1972	CLIP-seq
MIRT2477253	hsa-miR-2392	CLIP-seq
MIRT2477254	hsa-miR-24	CLIP-seq
MIRT2477255	hsa-miR-299-3p	CLIP-seq
MIRT2173661	hsa-miR-3142	CLIP-seq
MIRT2477256	hsa-miR-3151	CLIP-seq
MIRT2477257	hsa-miR-342-5p	CLIP-seq
MIRT2477258	hsa-miR-3605-5p	CLIP-seq
MIRT2477259	hsa-miR-370	CLIP-seq
MIRT2477260	hsa-miR-3940-5p	CLIP-seq
MIRT2477261	hsa-miR-4265	CLIP-seq
MIRT2477262	hsa-miR-4284	CLIP-seq
MIRT2477263	hsa-miR-4296	CLIP-seq
MIRT2173663	hsa-miR-432	CLIP-seq
MIRT2477264	hsa-miR-4322	CLIP-seq
MIRT2477265	hsa-miR-4447	CLIP-seq
MIRT2477266	hsa-miR-4472	CLIP-seq
MIRT2477267	hsa-miR-4507	CLIP-seq
MIRT2477268	hsa-miR-4534	CLIP-seq
MIRT2173664	hsa-miR-4650-5p	CLIP-seq
MIRT2477269	hsa-miR-4651	CLIP-seq
MIRT2477270	hsa-miR-4664-5p	CLIP-seq
MIRT2477271	hsa-miR-4764-5p	CLIP-seq
MIRT2477272	hsa-miR-4802-5p	CLIP-seq
MIRT2477273	hsa-miR-491-5p	CLIP-seq
MIRT2477274	hsa-miR-501-3p	CLIP-seq
MIRT2477275	hsa-miR-502-3p	CLIP-seq
MIRT2477276	hsa-miR-532-3p	CLIP-seq
MIRT2477277	hsa-miR-608	CLIP-seq
MIRT2477278	hsa-miR-765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IEA
GO:0001921	Process	Positive regulation of receptor recycling	IEA
GO:0002090	Process	Regulation of receptor internalization	IMP	18939958
GO:0002102	Component	Podosome	IEA
GO:0002102	Component	Podosome	ISS
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IDA	11804590, 19666464
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	TAS
GO:0005515	Function	Protein binding	IPI	15607035, 16169070, 18165900
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IBA
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IDA	11804589, 18939958, 19666464
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005769	Component	Early endosome	ISS
GO:0005771	Component	Multivesicular body	IDA	18939958
GO:0005771	Component	Multivesicular body	IEA
GO:0005794	Component	Golgi apparatus	IDA	11804590, 18939958
GO:0005794	Component	Golgi apparatus	IEA
GO:0005795	Component	Golgi stack	IEA
GO:0005802	Component	Trans-Golgi network	IBA
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0007015	Process	Actin filament organization	TAS	11804590
GO:0007165	Process	Signal transduction	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008360	Process	Regulation of cell shape	IMP	11804590
GO:0016020	Component	Membrane	IEA
GO:0019897	Component	Extrinsic component of plasma membrane	IDA	18939958
GO:0030100	Process	Regulation of endocytosis	IEA
GO:0031344	Process	Regulation of cell projection organization	IBA
GO:0031702	Function	Type 1 angiotensin receptor binding	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043547	Process	Positive regulation of GTPase activity	IDA	11804590
GO:0045124	Process	Regulation of bone resorption	IEA
GO:0045124	Process	Regulation of bone resorption	ISS
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0050766	Process	Positive regulation of phagocytosis	IEA
GO:0050766	Process	Positive regulation of phagocytosis	ISS
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0051130	Process	Positive regulation of cellular component organization	IEA
GO:0051491	Process	Positive regulation of filopodium assembly	IMP	11804590
GO:0051497	Process	Negative regulation of stress fiber assembly	IMP	11804590
GO:0070161	Component	Anchoring junction	IEA

Other IDs

• MIM: 606646
• HGNC: 16925
• e!Ensembl: ENSG00000186635

Protein

• UniProt ID: Q96P48
• Protein name: Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1 (Centaurin-delta-2) (Cnt-d2)
• Protein function: Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members (PubMed:11804590, PubMed:19666464). Activated by phosphatidylinositol 3,4,5-trisph
• PDB: 4X1V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00536	SAM_1	7 → 68	SAM domain (Sterile alpha motif)	Domain
  PF00169	PH	328 → 419	PH domain	Domain
  PF01412	ArfGap	535 → 653	Putative GTPase activating protein for Arf	Domain
  PF00169	PH	744 → 849	PH domain	Domain
  PF00620	RhoGAP	971 → 1123	RhoGAP domain	Domain
  PF00788	RA	1172 → 1261	Ras association (RalGDS/AF-6) domain	Domain
  PF00169	PH	1275 → 1396	PH domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in heart, skeletal muscle, spleen, kidney, liver, placenta, lung, peripheral blood leukocytes, adrenal gland, bone marrow, brain, lymph node, mammary gland, prostate, spinal cord, stomach, thyroid and trachea. {ECO:0000269|Pub
• Sequence:

  MAEAGDAALSVAEWLRALHLEQYTGLFEQHGLVWATECQGLSDTRLMDMGMLLPGHRRRI
  LAGLLRAHTSPAPAPRPTPRPVPMKRHIFRSPPVPATPPEPLPTTTEDEGLPAAPPIPPR
  RSCLPPTCFTTPSTAAPDPVLPPLPAKRHLAELSVPPVPPRTGPPRLLVSLPTKEEESLL
  PSLSSPPQPQSEEPLSTLPQGPPQPPSPPPCPPEIPPKPVRLFPEFDDSDYDEVPEEGPG
  APARVMTKKEEPPPSRVPRAVRVASLLSEGEELSGDDQGDEEEDDHAYEGVPNGGWHTSS
  LSLSLPSTIAAPHPMDGPPGGSTPVTPVIKAGWLDKNPPQGSYIYQKRWVRLDTDHLRYF
  DSNKDAYSKRFISVACISHVAAIGDQKFEVITNNRTFAFRAESDVERKEWMQALQQAMAE
  QRARARLSSAYLLGVPGSEQPDRAGSLELRGFKNKLYVAVVGDKVQLYKNLEEYHLGIGI
  TFIDMSVGNVKEVDRRSFDLTTPYRIFSFSADSELEKEQWLEAMQGAIAEALSTSEVAER
  IWAAAPNRFCADCGAPQPDWASINLCVVICKRCAGEHRGLGAGVSKVRSLKMDRKVWTET
  LIELFLQLGNGAGNRFWAANVPPSEALQPSSSPSTRRCHLEAKYREGKYRRYHPLFGNQE
  ELDKALCAAVTTTDLAETQALLGCGAGINCFSGDPEAPTPLALAEQAGQTLQMEFLRNNR
  TTEVPRLDSMKPLEKHYSVVLPTVSHSGFLYKTASAGKLLQDRRAREEFSRRWCVLGDGV
  LSYFENERAVTPNGEIRASEIVCLAVPPPDTHGFEHTFEVYTEGERLYLFGLESAEQAHE
  WVKCIAKAFVPPLAEDLLARDFERLGRLPYKAGLSLQRAQEGWFSLSGSELRAVFPEGPC
  EEPLQLRKLQELSIQGDSENQVLVLVERRRTLYIQGERRLDFMGWLGAIQKAAASMGDTL
  SEQQLGDSDIPVIVYRCVDYITQCGLTSEGIYRKCGQTSKTQRLLESLRQDARSVHLKEG
  EQHVDDVSSALKRFLRDLPDGLFTRAQRLTWLEASEIEDEEEKVSRYRELLVRLPPVNRA
  TVKALISHLYCVQCFSDTNQMNVHNLAIVFGPTLFQTDGQDYKAGRVVEDLINHYVVVFS
  VDEEELRKQREEITAIVKMRVAGTASGTQHAGDFICTVYLEEKKAETEQHIKVPASMTAE
  ELTLEILDRRNVGIREKDYWTCFEVNEREEAERPLHFAEKVLPILHGLGTDSHLVVKKHQ
  AMEAMLLYLASRVGDTKHGMMKFREDRSLLGLGLPSGGFHDRYFILNSSCLRLYKEVRSQ
  RPWSGAPETSHRPEKEWPIKSLKVYLGVKKKLRPPTCWGFTVVHETEKHEKQQWYLCCDT
  QMELREWFATFLFVQHDGLVWPSEPSRVSRAVPEVRLGSVSLIPLRGSENEMRRSVAAFT
  ADPLSLLRNV

• Sequence length: 1450

Pathways

KEGG:

Endocytosis

Reactome:

Rho GTPase cycle
PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1

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
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alloimmunisation	Alloimmunisation	GWASCAT_DG	25670933		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	GWASCAT_DG	25670933		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23577190	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20554524, 32110804	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34516333	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32141550	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31079598		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	25973943	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	22662265	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31079598		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21267535, 22662265, 25587982, 30089489, 32260174, 32578971, 32922204	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21873549, 30089489	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	20581827, 22885922, 24509480, 28869590, 29632382, 30054458, 30595370, 30718926		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	20581827, 21647700, 22885922, 24509480		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21267535, 21643948, 21873549, 24439111, 25587982, 25749274, 28132686		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31079598		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	30089489	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22287738		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32141550	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	37599524	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	22287738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	32141550	Stimulate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	32141550, 32985327	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32985327	Associate	★☆☆☆☆ Found in Text Mining only