MAPK8IP1 (mitogen-activated protein kinase 8 interacting protein 1)

Gene

• Entrez ID: 9479
• Gene name: Mitogen-activated protein kinase 8 interacting protein 1
• Gene symbol: MAPK8IP1
• Synonyms (NCBI Gene): IB1, JIP-1, JIP1, PRKM8IP
• Chromosome: 11
• Chromosome location: 11p11.2
• Summary: This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcri

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs119489103	G>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004239	hsa-miR-346	Microarray	16822819
MIRT042394	hsa-miR-191-3p	CLASH	23622248
MIRT440276	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT440276	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT1131146	hsa-miR-1233	CLIP-seq
MIRT1131147	hsa-miR-3714	CLIP-seq
MIRT1131148	hsa-miR-4722-5p	CLIP-seq
MIRT1131149	hsa-miR-615-3p	CLIP-seq
MIRT1131150	hsa-miR-940	CLIP-seq
MIRT1551129	hsa-miR-3141	CLIP-seq
MIRT2037382	hsa-miR-1245b-5p	CLIP-seq
MIRT2037383	hsa-miR-214	CLIP-seq
MIRT2037384	hsa-miR-3142	CLIP-seq
MIRT2037385	hsa-miR-3619-5p	CLIP-seq
MIRT2037386	hsa-miR-3918	CLIP-seq
MIRT2037387	hsa-miR-4291	CLIP-seq
MIRT2037388	hsa-miR-4512	CLIP-seq
MIRT2037389	hsa-miR-761	CLIP-seq
MIRT2037390	hsa-miR-922	CLIP-seq
MIRT2267270	hsa-miR-1207-5p	CLIP-seq
MIRT2267271	hsa-miR-1237	CLIP-seq
MIRT2267272	hsa-miR-1248	CLIP-seq
MIRT2267273	hsa-miR-338-3p	CLIP-seq
MIRT2267274	hsa-miR-3690	CLIP-seq
MIRT2037386	hsa-miR-3918	CLIP-seq
MIRT2267275	hsa-miR-4254	CLIP-seq
MIRT2267276	hsa-miR-4268	CLIP-seq
MIRT2267277	hsa-miR-4448	CLIP-seq
MIRT2267278	hsa-miR-4727-5p	CLIP-seq
MIRT2267279	hsa-miR-4736	CLIP-seq
MIRT2267280	hsa-miR-4763-3p	CLIP-seq
MIRT2267281	hsa-miR-4769-3p	CLIP-seq
MIRT2267282	hsa-miR-486-3p	CLIP-seq
MIRT2267283	hsa-miR-769-5p	CLIP-seq
MIRT2267284	hsa-miR-942	CLIP-seq
MIRT2267270	hsa-miR-1207-5p	CLIP-seq
MIRT1131146	hsa-miR-1233	CLIP-seq
MIRT2267279	hsa-miR-4736	CLIP-seq
MIRT2267280	hsa-miR-4763-3p	CLIP-seq
MIRT1131149	hsa-miR-615-3p	CLIP-seq
MIRT2267270	hsa-miR-1207-5p	CLIP-seq
MIRT1131146	hsa-miR-1233	CLIP-seq
MIRT2684585	hsa-miR-1294	CLIP-seq
MIRT2684586	hsa-miR-1909	CLIP-seq
MIRT2684587	hsa-miR-1972	CLIP-seq
MIRT2684588	hsa-miR-3064-3p	CLIP-seq
MIRT2267273	hsa-miR-338-3p	CLIP-seq
MIRT2684589	hsa-miR-4697-3p	CLIP-seq
MIRT2684590	hsa-miR-4710	CLIP-seq
MIRT1131148	hsa-miR-4722-5p	CLIP-seq
MIRT2267279	hsa-miR-4736	CLIP-seq
MIRT2267280	hsa-miR-4763-3p	CLIP-seq
MIRT1131149	hsa-miR-615-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004860	Function	Protein kinase inhibitor activity	TAS	9933567
GO:0005078	Function	MAP-kinase scaffold activity	IBA
GO:0005078	Function	MAP-kinase scaffold activity	IEA
GO:0005078	Function	MAP-kinase scaffold activity	IPI	11238452
GO:0005515	Function	Protein binding	IPI	11517249, 11724784, 11726277, 16273093, 16840345, 17709393, 18286207, 31413325, 31980649, 33961781, 35914814
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10574993
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007254	Process	JNK cascade	IBA
GO:0008432	Function	JUN kinase binding	IBA
GO:0008432	Function	JUN kinase binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	ISS
GO:0019894	Function	Kinesin binding	IEA
GO:0019894	Function	Kinesin binding	IPI	11238452
GO:0019901	Function	Protein kinase binding	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0031434	Function	Mitogen-activated protein kinase kinase binding	IEA
GO:0031435	Function	Mitogen-activated protein kinase kinase kinase binding	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043508	Process	Negative regulation of JUN kinase activity	ISS
GO:0044294	Component	Dendritic growth cone	IEA
GO:0044295	Component	Axonal growth cone	IEA
GO:0044302	Component	Dentate gyrus mossy fiber	IEA
GO:0045202	Component	Synapse	IEA
GO:0046328	Process	Regulation of JNK cascade	IEA
GO:0046328	Process	Regulation of JNK cascade	ISS
GO:0046329	Process	Negative regulation of JNK cascade	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0046330	Process	Positive regulation of JNK cascade	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:2000564	Process	Regulation of CD8-positive, alpha-beta T cell proliferation	IEA
GO:2000564	Process	Regulation of CD8-positive, alpha-beta T cell proliferation	ISS
GO:2001243	Process	Negative regulation of intrinsic apoptotic signaling pathway	IEA

Other IDs

• MIM: 604641
• HGNC: 6882
• e!Ensembl: ENSG00000121653

Protein

• UniProt ID: Q9UQF2
• Protein name: C-Jun-amino-terminal kinase-interacting protein 1 (JIP-1) (JNK-interacting protein 1) (Islet-brain 1) (IB-1) (JNK MAP kinase scaffold protein 1) (Mitogen-activated protein kinase 8-interacting protein 1)
• Protein function: The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. Required for JNK activation in response to excitoto
• PDB: 2G01, 2GMX, 2H96, 3OXI, 3PTG, 3VUD, 3VUG, 3VUH, 3VUI, 3VUK, 3VUL, 3VUM, 4E73, 4G1W, 4H39, 4HYS, 4HYU, 4IZY, 5LW1, 6FUZ, 7NYK, 7NYL, 7NYM, 7NYN, 7NYO, 7NZB, 8RPP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14604	SH3_9	495 → 544	Variant SH3 domain	Domain
  PF00640	PID	567 → 701	Phosphotyrosine interaction domain (PTB/PID)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in brain. Expressed in neurons, localizing to neurite tips in differentiating cells. Also expressed in the pancreas, testis and prostate. Low levels in heart, ovary and small intestine. Decreased levels in pancreatic b
• Sequence:

  MAERESGGLGGGAASPPAASPFLGLHIASPPNFRLTHDISLEEFEDEDLSEITDECGISL
  QCKDTLSLRPPRAGLLSAGGGGAGSRLQAEMLQMDLIDATGDTPGAEDDEEDDDEERAAR
  RPGAGPPKAESGQEPASRGQGQSQGQSQGPGSGDTYRPKRPTTLNLFPQVPRSQDTLNNN
  SLGKKHSWQDRVSRSSSPLKTGEQTPPHEHICLSDELPPQSGPAPTTDRGTSTDSPCRRS
  TATQMAPPGGPPAAPPGGRGHSHRDRIHYQADVRLEATEEIYLTPVQRPPDAAEPTSAFL
  PPTESRMSVSSDPDPAAYPSTAGRPHPSISEEEEGFDCLSSPERAEPPGGGWRGSLGEPP
  PPPRASLSSDTSALSYDSVKYTLVVDEHAQLELVSLRPCFGDYSDESDSATVYDNCASVS
  SPYESAIGEEYEEAPRPQPPACLSEDSTPDEPDVHFSKKFLNVFMSGRSRSSSAESFGLF
  SCIINGEEQEQTHRAIFRFVPRHEDELELEVDDPLLVELQAEDYWYEAYNMRTGARGVFP
  AYYAIEVTKEPEHMAALAKNSDWVDQFRVKFLGSVQVPYHKGNDVLCAAMQKIATTRRLT
  VHFNPPSSCVLEISVRGVKIGVKADDSQEAKGNKCSHFFQLKNISFCGYHPKNNKYFGFI
  TKHPADHRFACHVFVSEDSTKALAESVGRAFQQFYKQFVEYTCPTEDIYLE

• Sequence length: 711

Pathways

KEGG:

MAPK signaling pathway

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
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes mellitus type 2, susceptibility to	risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NONINSULIN-DEPENDENT	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAPK8IP1-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Type 2 diabetes mellitus	Uncertain significance	ClinVar ClinVar, GWAS catalog ClinVar, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	11724784	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	25989161	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Cerebral Infarction	BEFREE	30412737		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28912645		★☆☆☆☆ Found in Text Mining only
Depressed bipolar I disorder	Depressed bipolar disorder	GWASCAT_DG	31043756		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10700186		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10700186		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34391409	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10700186, 29129046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	UNIPROT_DG	10700186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	28977840		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	10700186		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28454224		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30026235		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	19596915, 20044608		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	33924512, 34391409	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	23045411, 30013340		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	30013340	Inhibit	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	11504916		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	19146923	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15138488		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15138488	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28454224		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	LHGDN	15868948		★☆☆☆☆ Found in Text Mining only