This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein interacts with another related JNK pathway scaffold protein, WDR62, via a conserved dimerization domain, and enhances JNK signaling. This protein may play a role in bacterial immun... See more...

Aliases for MAPKBP1 Gene

Aliases for MAPKBP1 Gene

  • Mitogen-Activated Protein Kinase Binding Protein 1 2 3 5
  • Mitogen-Activated Protein Kinase-Binding Protein 1 3 4
  • JNK-Binding Protein 1 3 4
  • KIAA0596 2 4
  • JNKBP-1 3 4
  • JNKBP1 3 4
  • NPHP20 2 3
  • Mitogen Activated Protein Kinase Binding Protein 1 2
  • MAPKBP1 5

External Ids for MAPKBP1 Gene

Previous GeneCards Identifiers for MAPKBP1 Gene

  • GC15P037434
  • GC15P034962
  • GC15P039645
  • GC15P039782
  • GC15P039855
  • GC15P042067
  • GC15P018915

Summaries for MAPKBP1 Gene

Entrez Gene Summary for MAPKBP1 Gene

  • This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein interacts with another related JNK pathway scaffold protein, WDR62, via a conserved dimerization domain, and enhances JNK signaling. This protein may play a role in bacterial immunity by binding to the NOD2 receptor and negatively regulating downstream antibacterial and pro-inflammatory signaling. Mutations in this gene that impair cellular localization of the encoded protein cause a form of nephronophthisis, an autosomal-recessive kidney disorder, in human patients. [provided by RefSeq, May 2017]

GeneCards Summary for MAPKBP1 Gene

MAPKBP1 (Mitogen-Activated Protein Kinase Binding Protein 1) is a Protein Coding gene. Diseases associated with MAPKBP1 include Nephronophthisis 20 and Late-Onset Nephronophthisis. An important paralog of this gene is WDR62.

UniProtKB/Swiss-Prot Summary for MAPKBP1 Gene

  • Negative regulator of NOD2 function. It down-regulates NOD2-induced processes such as activation of NF-kappa-B signaling, IL8 secretion and antibacterial response (PubMed:22700971). Involved in JNK signaling pathway (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAPKBP1 Gene

Genomics for MAPKBP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MAPKBP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAPKBP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAPKBP1

Top Transcription factor binding sites by QIAGEN in the MAPKBP1 gene promoter:
  • AREB6
  • Brachyury
  • Evi-1
  • FOXI1
  • HFH-3
  • Nkx3-1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for MAPKBP1 Gene

Latest Assembly
chr15:41,774,434-41,827,855
(GRCh38/hg38)
Size:
53,422 bases
Orientation:
Plus strand

Previous Assembly
chr15:42,066,682-42,120,053
(GRCh37/hg19 by Entrez Gene)
Size:
53,372 bases
Orientation:
Plus strand

chr15:42,066,632-42,120,053
(GRCh37/hg19 by Ensembl)
Size:
53,422 bases
Orientation:
Plus strand

Genomic View for MAPKBP1 Gene

Genes around MAPKBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAPKBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAPKBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAPKBP1 Gene

Proteins for MAPKBP1 Gene

  • Protein details for MAPKBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60336-MABP1_HUMAN
    Recommended name:
    Mitogen-activated protein kinase-binding protein 1
    Protein Accession:
    O60336
    Secondary Accessions:
    • A6NM93
    • A8K8P9
    • Q14CB5
    • Q14CD8
    • Q49AJ8
    • Q5W9G9

    Protein attributes for MAPKBP1 Gene

    Size:
    1514 amino acids
    Molecular mass:
    163818 Da
    Quaternary structure:
    • Can form homodimers (via C-terminus) (PubMed:23341463). Interacts (via C-terminus) with WDR62 (via C-terminus) (PubMed:23341463, PubMed:28089251). Interacts with MAPK9 (PubMed:28089251). Interacts (via N-terminus) with NOD2; the interaction is enhanced in presence of muramyl dipeptide (MDP) (PubMed:22700971). Interacts with MAPK10 (By similarity).
    SequenceCaution:
    • Sequence=BAA25522.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MAPKBP1 Gene

neXtProt entry for MAPKBP1 Gene

Post-translational modifications for MAPKBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Boster Bio Antibodies for MAPKBP1
  • Santa Cruz Biotechnology (SCBT) Antibodies for MAPKBP1

No data available for DME Specific Peptides for MAPKBP1 Gene

Domains & Families for MAPKBP1 Gene

Gene Families for MAPKBP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MAPKBP1 Gene

Suggested Antigen Peptide Sequences for MAPKBP1 Gene

GenScript: Design optimal peptide antigens:
  • JNK-binding protein 1 (MABP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60336

UniProtKB/Swiss-Prot:

MABP1_HUMAN :
  • The N-terminal WD40 domain is necessary for the interaction with NOD2 and down-regulation of NOD2 function.
Domain:
  • The N-terminal WD40 domain is necessary for the interaction with NOD2 and down-regulation of NOD2 function.
genes like me logo Genes that share domains with MAPKBP1: view

Function for MAPKBP1 Gene

Molecular function for MAPKBP1 Gene

UniProtKB/Swiss-Prot Function:
Negative regulator of NOD2 function. It down-regulates NOD2-induced processes such as activation of NF-kappa-B signaling, IL8 secretion and antibacterial response (PubMed:22700971). Involved in JNK signaling pathway (By similarity).

Phenotypes From GWAS Catalog for MAPKBP1 Gene

Gene Ontology (GO) - Molecular Function for MAPKBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 22700971
genes like me logo Genes that share ontologies with MAPKBP1: view
genes like me logo Genes that share phenotypes with MAPKBP1: view

Human Phenotype Ontology for MAPKBP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAPKBP1 Gene

MGI Knock Outs for MAPKBP1:
  • Mapkbp1 Mapkbp1<tm1b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAPKBP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MAPKBP1 Gene

Localization for MAPKBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAPKBP1 Gene

Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, spindle pole. Note=Not detected in the cilium. Localized around the poles of the mitotic spindle from prophase to anaphase in mitotic cells. {ECO:0000269 PubMed:28089251}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAPKBP1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoli rim (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAPKBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA,IDA 28089251
genes like me logo Genes that share ontologies with MAPKBP1: view

Pathways & Interactions for MAPKBP1 Gene

PathCards logo

SuperPathways for MAPKBP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MAPKBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032717 negative regulation of interleukin-8 production IMP 22700971
GO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling IMP 22700971
GO:1900425 negative regulation of defense response to bacterium IMP 22700971
genes like me logo Genes that share ontologies with MAPKBP1: view

No data available for Pathways by source and SIGNOR curated interactions for MAPKBP1 Gene

Drugs & Compounds for MAPKBP1 Gene

No Compound Related Data Available

Transcripts for MAPKBP1 Gene

mRNA/cDNA for MAPKBP1 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAPKBP1

Alternative Splicing Database (ASD) splice patterns (SP) for MAPKBP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b · 18c ^ 19 ^ 20a ·
SP1:
SP2: - - -
SP3:
SP4:
SP5:
SP6:
SP7: - - -
SP8:
SP9:
SP10: -
SP11:
SP12: - -
SP13:

ExUns: 20b ^ 21a · 21b ^ 22a · 22b · 22c · 22d ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for MAPKBP1 Gene

GeneLoc Exon Structure for
MAPKBP1

Expression for MAPKBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAPKBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAPKBP1 Gene

This gene is overexpressed in Brain - Cerebellum (x5.4) and Brain - Cerebellar Hemisphere (x4.7).

Protein differential expression in normal tissues from HIPED for MAPKBP1 Gene

This gene is overexpressed in Cervix (56.2) and Testis (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MAPKBP1 Gene



Protein tissue co-expression partners for MAPKBP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAPKBP1

SOURCE GeneReport for Unigene cluster for MAPKBP1 Gene:

Hs.513661

mRNA Expression by UniProt/SwissProt for MAPKBP1 Gene:

O60336-MABP1_HUMAN
Tissue specificity: Expressed in intestinal mucosa, where it is detected in epithelial cells, endothelial cells, smooth muscle cells and immune cells, such as lymphocytes (PubMed:22700971). Expressed in kidney (PubMed:28089251).

Evidence on tissue expression from TISSUES for MAPKBP1 Gene

  • Nervous system(4.6)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with MAPKBP1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MAPKBP1 Gene

Orthologs for MAPKBP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MAPKBP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MAPKBP1 29
  • 99.1 (n)
Dog
(Canis familiaris)
Mammalia MAPKBP1 29 30
  • 89.08 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MAPKBP1 29 30
  • 88.84 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MAPKBP1 30
  • 87 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Mapkbp1 29 16 30
  • 85.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mapkbp1 29
  • 85.06 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 74 (a)
OneToMany
-- 30
  • 68 (a)
OneToMany
Chicken
(Gallus gallus)
Aves MAPKBP1 29 30
  • 67.09 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MAPKBP1 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mapkbp1 29
  • 62.93 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100535386 29
  • 66.59 (n)
MAPKBP1 30
  • 65 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG7337 30
  • 18 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea H24G06.1 29 30
  • 40.15 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 44 (a)
OneToMany
Species where no ortholog for MAPKBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MAPKBP1 Gene

ENSEMBL:
Gene Tree for MAPKBP1 (if available)
TreeFam:
Gene Tree for MAPKBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAPKBP1: view image
Alliance of Genome Resources:
Additional Orthologs for MAPKBP1

Paralogs for MAPKBP1 Gene

(1) SIMAP similar genes for MAPKBP1 Gene using alignment to 7 proteins:

  • MABP1_HUMAN
  • C9JL14_HUMAN
  • D6R9F7_HUMAN
  • D6RAI2_HUMAN
  • D6RHX7_HUMAN
  • F8WC21_HUMAN
  • L8E7J2_HUMAN
genes like me logo Genes that share paralogs with MAPKBP1: view

Variants for MAPKBP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAPKBP1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
1030172 Uncertain Significance: Nephronophthisis 20 41,818,896(+) C/T
NM_014994.3(MAPKBP1):c.2230C>T (p.Arg744Cys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1030173 Uncertain Significance: Nephronophthisis 20 41,823,510(+) C/T
NM_014994.3(MAPKBP1):c.3662C>T (p.Ala1221Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
1032645 Uncertain Significance: Nephronophthisis 20 41,816,665(+) C/T
NM_014994.3(MAPKBP1):c.1585+15C>T
INTRON
1032646 Pathogenic: Nephronophthisis 20 41,821,036(+) C/T
NM_014994.3(MAPKBP1):c.2686C>T (p.Gln896Ter)
NONSENSE,NON_CODING_TRANSCRIPT
1032647 Uncertain Significance: Nephronophthisis 20 41,823,846(+) G/C
NM_014994.3(MAPKBP1):c.3998G>C (p.Ser1333Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MAPKBP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MAPKBP1 Gene

Variant ID Type Subtype PubMed ID
dgv2581n100 CNV gain 25217958
dgv2582n100 CNV gain 25217958
dgv449e214 CNV gain 21293372
esv1008860 CNV deletion 20482838
esv2663912 CNV deletion 23128226
esv2760027 CNV loss 17122850
esv3636248 CNV loss 21293372
esv3636249 CNV loss 21293372
esv3636250 CNV loss 21293372
nsv1035998 CNV gain 25217958
nsv1038894 CNV gain 25217958
nsv1049514 CNV gain 25217958
nsv1134437 CNV deletion 24896259
nsv1506 CNV insertion 18451855
nsv517631 CNV loss 19592680
nsv9243 CNV gain 18304495
nsv9244 CNV gain 18304495
nsv952613 CNV deletion 24416366

Variation tolerance for MAPKBP1 Gene

Residual Variation Intolerance Score: 68.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.81; 89.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAPKBP1 Gene

Human Gene Mutation Database (HGMD)
MAPKBP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAPKBP1
Leiden Open Variation Database (LOVD)
MAPKBP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAPKBP1 Gene

Disorders for MAPKBP1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MAPKBP1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
nephronophthisis 20
  • nphp20
late-onset nephronophthisis
juvenile nephronophthisis
  • nephronophthisis
nephronophthisis
  • medullary cystic disease
interstitial nephritis
  • renal tubulo-interstitial disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MABP1_HUMAN
  • Nephronophthisis 20 (NPHP20) [MIM:617271]: A form of nephronophthisis, an autosomal recessive chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis. NPHP20 patients do not show extrarenal manifestations or evidence of a ciliopathy, such as situs inversus or polydactyly. {ECO:0000269 PubMed:28089251}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MAPKBP1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MAPKBP1: view

No data available for Genatlas for MAPKBP1 Gene

Publications for MAPKBP1 Gene

  1. Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. (PMID: 28089251) Macia MS … Benmerah A (American journal of human genetics 2017) 3 4 72
  2. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4
  3. Identification and analysis of a novel dimerization domain shared by various members of c-Jun N-terminal kinase (JNK) scaffold proteins. (PMID: 23341463) Cohen-Katsenelson K … Aronheim A (The Journal of biological chemistry 2013) 3 4
  4. The c-Jun N-terminal kinase (JNK)-binding protein (JNKBP1) acts as a negative regulator of NOD2 protein signaling by inhibiting its oligomerization process. (PMID: 22700971) Lecat A … Legrand-Poels S (The Journal of biological chemistry 2012) 3 4
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40

Products for MAPKBP1 Gene

Sources for MAPKBP1 Gene