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

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: mouse all
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Genomic context

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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).
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-144940 (e-PCR)
- UniSTS:174341

RH78669 (e-PCR)
- UniSTS:43621

RH64899 (e-PCR)
- UniSTS:26727

D11S946E (e-PCR)
- UniSTS:147371

RH103702 (e-PCR)
- UniSTS:98027

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

NG_012153.1 RefSeqGene

Range

5001..25815

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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