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    MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 9479, updated on 6-Dec-2016
    Official Symbol
    MAPK8IP1provided by HGNC
    Official Full Name
    mitogen-activated protein kinase 8 interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:6882
    See related
    Ensembl:ENSG00000121653 MIM:604641; Vega:OTTHUMG00000134324
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IB1; JIP1; JIP-1; PRKM8IP
    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 transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 2011]
    Orthologs
    Location:
    11p11.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (45885496..45906465)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (45907047..45928016)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 35 member C1 Neighboring gene cryptochrome circadian clock 2 Neighboring gene chromosome 11 open reading frame 94 Neighboring gene peroxisomal biogenesis factor 16

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Diabetes mellitus type 2
    MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    NHGRI GWA Catalog
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • Reelin signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Reelin signaling pathway, organism-specific biosystem
      Reelin signaling pathway
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    JUN kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    MAP-kinase scaffold activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    kinesin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    mitogen-activated protein kinase kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    mitogen-activated protein kinase kinase kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    JUN phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of JUN kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of intrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of JNK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    vesicle-mediated transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    axonal growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    cell body IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    dendritic growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    dentate gyrus mossy fiber IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    C-Jun-amino-terminal kinase-interacting protein 1
    Names
    IB-1
    JNK MAP kinase scaffold protein 1
    JNK-interacting protein 1
    PRKM8 interacting protein
    islet-brain 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012153.1 RefSeqGene

      Range
      4846..25815
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005456.3NP_005447.1  C-Jun-amino-terminal kinase-interacting protein 1

      See identical proteins and their annotated locations for NP_005447.1

      Status: REVIEWED

      Source sequence(s)
      AF007134, AF074091, BC068470, DB473314
      Consensus CDS
      CCDS7916.1
      UniProtKB/Swiss-Prot
      Q9UQF2
      UniProtKB/TrEMBL
      Q6NUQ9
      Related
      ENSP00000241014, OTTHUMP00000166057, ENST00000241014, OTTHUMT00000259405
      Conserved Domains (2) summary
      cd11943
      Location:492546
      SH3_JIP1; Src homology 3 domain of JNK-interacting protein 1
      cd01212
      Location:563711
      PTB_JIP; JNK-interacting protein-like (JIP) Phosphotyrosine-binding (PTB) domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      45885496..45906465
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005253226.3XP_005253283.1  

      UniProtKB/TrEMBL
      E9PBB9
      Related
      ENSP00000378991, OTTHUMP00000166058, ENST00000395629, OTTHUMT00000259407
      Conserved Domains (2) summary
      cd11943
      Location:482536
      SH3_JIP1; Src homology 3 domain of JNK-interacting protein 1
      cd01212
      Location:553701
      PTB_JIP; JNK-interacting protein-like (JIP) Phosphotyrosine-binding (PTB) domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      45904472..45925436
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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