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

    Gene ID: 9479, updated on 19-May-2024

    Summary

    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; AllianceGenome:HGNC:6882
    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]
    Expression
    Biased expression in brain (RPKM 54.8), testis (RPKM 11.7) and 5 other tissues See more
    Orthologs
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    Genomic context

    See MAPK8IP1 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (45885651..45906465)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (46041587..46062395)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (45907202..45928016)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4665 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3287 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3288 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4666 Neighboring gene solute carrier family 35 member C1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4669 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:45869217-45869738 Neighboring gene Sharpr-MPRA regulatory region 9087 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4671 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:45880664-45881863 Neighboring gene cryptochrome circadian regulator 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:45882374-45883573 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:45887051-45887552 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3290 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:45917073-45917944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:45917945-45918814 Neighboring gene uncharacterized LOC124902668 Neighboring gene Sharpr-MPRA regulatory region 31 Neighboring gene Sharpr-MPRA regulatory region 10000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:45927125-45927626 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:45927627-45928126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:45929145-45930090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:45938484-45939236 Neighboring gene Frey regulator of sperm-oocyte fusion 1 Neighboring gene peroxisomal biogenesis factor 16

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Type 2 diabetes mellitus
    MedGen: C0011860 OMIM: 125853 GeneReviews: WFS1 Spectrum Disorder
    Compare labs

    EBI GWAS Catalog

    Description
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables JUN kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables MAP-kinase scaffold activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables MAP-kinase scaffold activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables kinesin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in JNK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of JUN kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of intrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of JNK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of CD8-positive, alpha-beta T cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of JNK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vesicle-mediated transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dentate gyrus mossy fiber IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5001..25815
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005456.4NP_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
      Consensus CDS
      CCDS7916.1
      UniProtKB/Swiss-Prot
      D3DQP4, O43407, Q9UQF2
      UniProtKB/TrEMBL
      Q6NUQ9
      Related
      ENSP00000241014.2, ENST00000241014.6
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      45885651..45906465
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      46041587..46062395
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)