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

    Gene ID: 9479, updated on 2-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See MAPK8IP1 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (45885651..45906465)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (46041587..46062395)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. The JNK interacting protein JIP-1 and insulin like growth factor II genes are co-expressed in human embryonic tumours. Engström W, et al. Anticancer Res, 2005 Mar-Apr. PMID 15868948
    2. Role of the JNK-interacting protein 1/islet brain 1 in cell degeneration in Alzheimer disease and diabetes. Beeler N, et al. Brain Res Bull, 2009 Oct 28. PMID 19616077
    3. JNK-interacting protein-1 promotes transcription of A beta protein precursor but not A beta precursor-like proteins, mechanistically different than Fe65. Scheinfeld MH, et al. Proc Natl Acad Sci U S A, 2003 Feb 18. PMID 12563035, Free PMC Article
    4. The transcriptional repressor REST determines the cell-specific expression of the human MAPK8IP1 gene encoding IB1 (JIP-1). Abderrahmani A, et al. Mol Cell Biol, 2001 Nov. PMID 11585908, Free PMC Article
    5. Cell-permeable peptide inhibitors of JNK: novel blockers of beta-cell death. Bonny C, et al. Diabetes, 2001 Jan. PMID 11147798

    See all (84) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural basis of homodimerization of the JNK scaffold protein JIP2 and its heterodimerization with JIP1.
      Title: Structural basis of homodimerization of the JNK scaffold protein JIP2 and its heterodimerization with JIP1.
    2. Dual Role of Mitogen-Activated Protein Kinase 8 Interacting Protein-1 in Inflammasome and Pancreatic beta-Cell Function.
      Title: Dual Role of Mitogen-Activated Protein Kinase 8 Interacting Protein-1 in Inflammasome and Pancreatic β-Cell Function.
    3. Identification of Key Biomarkers and Immune Infiltration in Sporadic Vestibular Schwannoma Basing Transcriptome-Wide Profiling.
      Title: Identification of Key Biomarkers and Immune Infiltration in Sporadic Vestibular Schwannoma Basing Transcriptome-Wide Profiling.
    4. Retrospective analysis of the incidence and predictive factors of parametrial involvement in FIGO IB1 cervical cancer.
      Title: Retrospective analysis of the incidence and predictive factors of parametrial involvement in FIGO IB1 cervical cancer.
    5. Sequential dynein effectors regulate axonal autophagosome motility in a maturation-dependent pathway.
      Title: Sequential dynein effectors regulate axonal autophagosome motility in a maturation-dependent pathway.
    6. extensive biochemical characterization of the KLC:JIP1 interaction, as well as identification of potential KLC1-binding partners, improves the understanding of how this growing family of cargos is recruited to kinesin1 by KLC1.
      Title: Characterization of the binding mode of JNK-interacting protein 1 (JIP1) to kinesin-light chain 1 (KLC1).
    7. All binary complexes (KLC1:APP, KLC1:JIP1, and APP:JIP1) contain conformations with favorable binding free energies indicating that KLC1 and JIP1 may take part in APP transport in Alzheimer's disease patients.
      Title: A molecular dynamics study of the binary complexes of APP, JIP1, and the cargo binding domain of KLC.
    8. analysis of the role of JIP1 in APP transport; knockdown of JIP1 did not affect either amyloid precursor protein transport or amyloid-beta peptide production
      Title: Loss of c-Jun N-terminal kinase-interacting protein-1 does not affect axonal transport of the amyloid precursor protein or Aβ production.
    9. Data show that small GTPase RALA regulates formation of a JIP1 (C-Jun-amino-terminal-interacting protein 1) scaffold complex to propagate JNK signaling toward FOXO4 (forkhead box O transcription factor) in response to reactive oxygen species (ROS).
      Title: The small GTPase RALA controls c-Jun N-terminal kinase-mediated FOXO activation by regulation of a JIP1 scaffold complex.
    10. In resected pancreatic cancer, carriers of a minor allele for rs3824872 (MAPK8IP1) were associated with a survival advantage compared with noncarriers with an additional 2-year survival if both minor alleles were present.
      Title: Survival is associated with genetic variation in inflammatory pathway genes among patients with resected and unresected pancreatic cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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)

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    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_005456.4 → NP_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:492 → 546
      SH3_JIP1; Src homology 3 domain of JNK-interacting protein 1
      cd01212
      Location:563 → 711
      PTB_JIP; JNK-interacting protein-like (JIP) Phosphotyrosine-binding (PTB) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UQF2.1 GenPept UniProtKB/Swiss-Prot:Q9UQF2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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