MAPKAP1 (MAPK associated protein 1)

Gene

• Entrez ID: 79109
• Gene name: MAPK associated protein 1
• Gene symbol: MAPKAP1
• Synonyms (NCBI Gene): JC310, MIP1, SIN1, SIN1b, SIN1g
• Chromosome: 9
• Chromosome location: 9q33.3
• Summary: This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019887	hsa-miR-375	Microarray	20215506
MIRT029925	hsa-miR-26b-5p	Microarray	19088304
MIRT1131387	hsa-miR-4457	CLIP-seq
MIRT1131388	hsa-miR-513b	CLIP-seq
MIRT1131389	hsa-miR-1323	CLIP-seq
MIRT1131390	hsa-miR-371b-5p	CLIP-seq
MIRT1131391	hsa-miR-3913-3p	CLIP-seq
MIRT1131392	hsa-miR-455-3p	CLIP-seq
MIRT1131393	hsa-miR-4712-5p	CLIP-seq
MIRT1131394	hsa-miR-489	CLIP-seq
MIRT1131395	hsa-miR-548o	CLIP-seq
MIRT1131396	hsa-miR-770-5p	CLIP-seq
MIRT1131397	hsa-miR-888	CLIP-seq
MIRT1131398	hsa-miR-3144-5p	CLIP-seq
MIRT1131399	hsa-miR-3191	CLIP-seq
MIRT1131391	hsa-miR-3913-3p	CLIP-seq
MIRT1131387	hsa-miR-4457	CLIP-seq
MIRT1131400	hsa-miR-4645-3p	CLIP-seq
MIRT1131401	hsa-miR-4652-5p	CLIP-seq
MIRT1131402	hsa-miR-4667-5p	CLIP-seq
MIRT1131403	hsa-miR-4700-5p	CLIP-seq
MIRT1131404	hsa-miR-499-3p	CLIP-seq
MIRT1131405	hsa-miR-499a-3p	CLIP-seq
MIRT1131388	hsa-miR-513b	CLIP-seq
MIRT1131406	hsa-miR-889	CLIP-seq
MIRT1131407	hsa-miR-1343	CLIP-seq
MIRT1131408	hsa-miR-378g	CLIP-seq
MIRT1131409	hsa-miR-3921	CLIP-seq
MIRT1131410	hsa-miR-4437	CLIP-seq
MIRT1131411	hsa-miR-4649-3p	CLIP-seq
MIRT1131412	hsa-miR-4653-5p	CLIP-seq
MIRT1131413	hsa-miR-4660	CLIP-seq
MIRT1131414	hsa-miR-4674	CLIP-seq
MIRT1131415	hsa-miR-564	CLIP-seq
MIRT1131416	hsa-miR-760	CLIP-seq
MIRT2267340	hsa-miR-485-5p	CLIP-seq
MIRT2390600	hsa-miR-2110	CLIP-seq
MIRT2390601	hsa-miR-3125	CLIP-seq
MIRT2390602	hsa-miR-3151	CLIP-seq
MIRT2390603	hsa-miR-3916	CLIP-seq
MIRT2390604	hsa-miR-4271	CLIP-seq
MIRT2390605	hsa-miR-4447	CLIP-seq
MIRT2390606	hsa-miR-4472	CLIP-seq
MIRT2390607	hsa-miR-4725-3p	CLIP-seq
MIRT2390608	hsa-miR-491-5p	CLIP-seq
MIRT2567085	hsa-miR-1231	CLIP-seq
MIRT1131407	hsa-miR-1343	CLIP-seq
MIRT2567086	hsa-miR-149	CLIP-seq
MIRT2567087	hsa-miR-191	CLIP-seq
MIRT2567088	hsa-miR-3064-5p	CLIP-seq
MIRT2567089	hsa-miR-3182	CLIP-seq
MIRT2567090	hsa-miR-329	CLIP-seq
MIRT2567091	hsa-miR-362-3p	CLIP-seq
MIRT2567092	hsa-miR-3652	CLIP-seq
MIRT2567093	hsa-miR-3653	CLIP-seq
MIRT2567094	hsa-miR-3658	CLIP-seq
MIRT2567095	hsa-miR-3667-5p	CLIP-seq
MIRT1131408	hsa-miR-378g	CLIP-seq
MIRT1131409	hsa-miR-3921	CLIP-seq
MIRT2567096	hsa-miR-4251	CLIP-seq
MIRT2567097	hsa-miR-4303	CLIP-seq
MIRT2567098	hsa-miR-4326	CLIP-seq
MIRT2567099	hsa-miR-4329	CLIP-seq
MIRT2567100	hsa-miR-4430	CLIP-seq
MIRT1131410	hsa-miR-4437	CLIP-seq
MIRT2567101	hsa-miR-4462	CLIP-seq
MIRT2567102	hsa-miR-4505	CLIP-seq
MIRT2567103	hsa-miR-4520a-3p	CLIP-seq
MIRT2567104	hsa-miR-4520b-3p	CLIP-seq
MIRT1131411	hsa-miR-4649-3p	CLIP-seq
MIRT1131412	hsa-miR-4653-5p	CLIP-seq
MIRT2567105	hsa-miR-4659a-3p	CLIP-seq
MIRT2567106	hsa-miR-4659b-3p	CLIP-seq
MIRT1131413	hsa-miR-4660	CLIP-seq
MIRT1131414	hsa-miR-4674	CLIP-seq
MIRT2567107	hsa-miR-4794	CLIP-seq
MIRT2567108	hsa-miR-539	CLIP-seq
MIRT2567109	hsa-miR-591	CLIP-seq
MIRT2567110	hsa-miR-593	CLIP-seq
MIRT2567111	hsa-miR-654-3p	CLIP-seq
MIRT1131416	hsa-miR-760	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005515	Function	Protein binding	IPI	24365180, 24670654, 28934384, 29567957, 33378666, 35512704
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IBA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	17303383
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IDA	17303383, 26293922
GO:0005634	Component	Nucleus	IDA	26263164
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	26263164
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IDA	28143890
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005764	Component	Lysosome	IDA	31130364
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	28143890
GO:0005770	Component	Late endosome	IDA	28143890
GO:0005783	Component	Endoplasmic reticulum	IDA	21867682
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	17303383
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA	26263164
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	26263164, 28143890
GO:0005886	Component	Plasma membrane	IDA	17303383
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IDA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	18498745
GO:0007010	Process	Cytoskeleton organization	NAS	15268862
GO:0008286	Process	Insulin receptor signaling pathway	IDA	38056462
GO:0016020	Component	Membrane	IEA
GO:0019901	Function	Protein kinase binding	IPI	21177249
GO:0021762	Process	Substantia nigra development	HEP	22926577
GO:0030307	Process	Positive regulation of cell growth	NAS	22500797
GO:0031267	Function	Small GTPase binding	IDA	17303383
GO:0031669	Process	Cellular response to nutrient levels	NAS	22500797
GO:0031901	Component	Early endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0031932	Component	TORC2 complex	IBA
GO:0031932	Component	TORC2 complex	IDA	26263164
GO:0031932	Component	TORC2 complex	IDA	21177249, 21376236, 21867682, 26263164, 28264193, 28968999, 29424687, 29567957, 33158864, 35926713
GO:0031932	Component	TORC2 complex	IEA
GO:0031932	Component	TORC2 complex	IPI	17461779
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0032869	Process	Cellular response to insulin stimulus	ISS
GO:0038203	Process	TORC2 signaling	IBA
GO:0038203	Process	TORC2 signaling	IDA	21177249, 21376236, 21806543, 26293922, 28264193, 28968999, 29424687, 29567957, 31130364, 33158864, 35926713
GO:0038203	Process	TORC2 signaling	IEA
GO:0038203	Process	TORC2 signaling	ISS
GO:0038203	Process	TORC2 signaling	ISS
GO:0043066	Process	Negative regulation of apoptotic process	NAS	22500797
GO:0043325	Function	Phosphatidylinositol-3,4-bisphosphate binding	IDA	17303383
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	28147277
GO:0046580	Process	Negative regulation of Ras protein signal transduction	IMP	17303383
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IDA	18498745
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	ISS
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050821	Process	Protein stabilization	ISS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	9094314
GO:0060090	Function	Molecular adaptor activity	IDA	29567957
GO:0070300	Function	Phosphatidic acid binding	IDA	17303383
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IDA	17303383
GO:0140767	Function	Enzyme-substrate adaptor activity	IDA	21806543, 28264193, 35926713
GO:0140767	Function	Enzyme-substrate adaptor activity	IEA
GO:0140767	Function	Enzyme-substrate adaptor activity	ISS
GO:1900407	Process	Regulation of cellular response to oxidative stress	IEA
GO:1902554	Component	Serine/threonine protein kinase complex	IDA	35926713

Other IDs

• MIM: 610558
• HGNC: 18752
• e!Ensembl: ENSG00000119487

Protein

• UniProt ID: Q9BPZ7
• Protein name: Target of rapamycin complex 2 subunit MAPKAP1 (TORC2 subunit MAPKAP1) (Mitogen-activated protein kinase 2-associated protein 1) (Stress-activated map kinase-interacting protein 1) (SAPK-interacting protein 1) (mSIN1)
• Protein function: Component of the mechanistic target of rapamycin complex 2 (mTORC2), which transduces signals from growth factors to pathways involved in proliferation, cytoskeletal organization, lipogenesis and anabolic output (PubMed:15467718, PubMed:16919458
• PDB: 3VOQ, 5ZCS, 6ZWM, 6ZWO, 7LC1, 7LC2, 7PE7, 7PE8, 7PE9, 7TZO, 7VV8, 7VV9, 7VVB, 7VVG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05422	SIN1	18 → 129	Stress-activated map kinase interacting protein 1 (SIN1)	Family
  PF16978	CRIM	139 → 276	SAPK-interacting protein 1 (Sin1), middle CRIM domain	Family
  PF16979	SIN1_PH	381 → 488	SAPK-interacting protein 1 (Sin1), Pleckstrin-homology	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in heart and skeletal muscle. {ECO:0000269|PubMed:15988011}.
• Sequence:

  MAFLDNPTIILAHIRQSHVTSDDTGMCEMVLIDHDVDLEKIHPPSMPGDSGSEIQGSNGE
  TQGYVYAQSVDITSSWDFGIRRRSNTAQRLERLRKERQNQIKCKNIQWKERNSKQSAQEL
  KSLFEKKSLKEKPPISGKQSILSVRLEQCPLQLNNPFNEYSKFDGKGHVGTTATKKIDVY
  LPLHSSQDRLLPMTVVTMASARVQDLIGLICWQYTSEGREPKLNDNVSAYCLHIAEDDGE
  VDTDFPPLDSNEPIHKFGFSTLALVEKYSSPGLTSKESLFVRINAAHGFSLIQVDNTKVT
  MKEILLKAVKRRKGSQKVSGPQYRLEKQSEPNVAVDLDSTLESQSAWEFCLVRENSSRAD
  GVFEEDSQIDIATVQDMLSSHHYKSFKVSMIHRLRFTTDVQLGISGDKVEIDPVTNQKAS
  TKFWIKQKPISIDSDLLCACDLAEEKSPSHAIFKLTYLSNHDYKHLYFESDAATVNEIVL
  KVNYILESRASTARADYFAQKQRKLNRRTSFSFQKEKKSGQQ

• Sequence length: 522

Pathways

KEGG:

mTOR signaling pathway

Reactome:

PIP3 activates AKT signaling
CD28 dependent PI3K/Akt signaling
VEGFR2 mediated vascular permeability
Constitutive Signaling by AKT1 E17K in Cancer
Regulation of TP53 Degradation

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC BRONCHITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acidosis Lactic	Lactic acidosis	Pubtator	15969653	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	25456951		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	14565645		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	15969653	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27780891, 28364216		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24161930, 31773361	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24161930	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	25456951		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24926550	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30023514		★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	BEFREE	16368709		★☆☆☆☆ Found in Text Mining only
Coffin-Lowry syndrome	Coffin-Lowry Syndrome	BEFREE	11896450		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28692058		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	22710188		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	17729302		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	15969653		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15969653, 28453552		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	17034344, 31773361		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31773361	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	10830743		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	28036153		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	28036153		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17143510, 23564492		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30828345		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27780891, 28364216		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	25456951		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23564492, 27780891, 27993679, 31773361		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	25456951		★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	15969653		★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	Melas syndrome	Pubtator	15969653	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	28208835		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	28208835	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	20185557		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	20185557	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	Pubtator	15969653	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	30828345		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	14565645		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	24469448		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30571167		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23564492, 25456951, 27780891, 27993679, 30639242		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11163539, 17680997		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27993679		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30847386		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25456951		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	17680997		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	39223457	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	18316587		★☆☆☆☆ Found in Text Mining only
Retinal Vein Occlusion	Retinal Vein Occlusion	BEFREE	30558792		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	11236899		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10198224		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	24926550		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	24196235		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	30571167		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	20198315		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	25456951		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	25456951		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	27918857		★☆☆☆☆ Found in Text Mining only