Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9479
Gene name Gene Name - the full gene name approved by the HGNC.
Mitogen-activated protein kinase 8 interacting protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAPK8IP1
Synonyms (NCBI Gene) Gene synonyms aliases
IB1, JIP-1, JIP1, PRKM8IP
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs119489103 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004860 Function Protein kinase inhibitor activity TAS 9933567
GO:0005078 Function MAP-kinase scaffold activity IPI 11238452
GO:0005515 Function Protein binding IPI 11517249, 11726277, 16273093, 16840345, 17709393, 18286207, 31980649
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604641 6882 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
AYYA
IEVTKEPEHMAALAKNSDWVDQFRVKFLGSVQVPYHKGNDVLCAAMQKIATTRRLT
VHFNPPSSCVLEISVRGVKIGVKADDSQEAKGNKCSHFFQLKNISFCGYHPKNNKYFGFI
TKHPADHRFACHVFVSEDSTKALAESVGRAFQQFYKQFVEY
TCPTEDIYLE
Sequence length 711
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  MAPK signaling pathway  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
10700186
Unknown
Disease term Disease name Evidence References Source
Diabetes Mellitus diabetes mellitus, noninsulin-dependent GenCC
Diabetes Diabetes GWAS
Bipolar Disorder Bipolar Disorder GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 11724784
Bipolar Disorder Associate 25989161
Cluster Headache Associate 34256648
Diabetes Mellitus Type 2 Associate 34391409
Neoplasms Associate 23045411
Neoplasms Germ Cell and Embryonal Associate 15868948
Obesity Associate 33924512, 34391409
Osteosarcoma Inhibit 30013340
Parkinson Disease Associate 19146923
Potocki Shaffer syndrome Associate 33836758