MAPKBP1 mitogen-activated protein kinase binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAPKBP1provided by HGNC
Official Full Name: mitogen-activated protein kinase binding protein 1provided by HGNC
Primary source: HGNC:HGNC:29536
See related: Ensembl:ENSG00000137802 MIM:616786; AllianceGenome:HGNC:29536
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: JNKBP1; NPHP20; JNKBP-1
Summary: 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]
Expression: Broad expression in testis (RPKM 16.2), skin (RPKM 11.0) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q15.1

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (41774484..41827855)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (39580367..39633768)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (42066682..42120053)

Chromosome 15 - NC_000015.10 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
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?

Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment.
Title: Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment.
We identified mutations in MAPKBP1 as a genetic cause of juvenile or late-onset and cilia-independent nephronophthisis.
Title: Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
JNKBP1 and NOD2 are co-expressed in the human intestinal epithelium and in immune cells recruited in the lamina propria, which suggests that JNKBP1 contributes to maintain NOD2-mediated intestinal immune homeostasis.
Title: The c-Jun N-terminal kinase (JNK)-binding protein (JNKBP1) acts as a negative regulator of NOD2 protein signaling by inhibiting its oligomerization process.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

Submit: New GeneRIF Correction

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
Nephronophthisis 20 MedGen: C4310640 OMIM: 617271 GeneReviews: Nephronophthisis-Related Ciliopathies	Compare labs

EBI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. 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

RH77834 (e-PCR)
- UniSTS:8977

NIB1403 (e-PCR)
- UniSTS:17438

A004M13 (e-PCR)
- UniSTS:23345

G66816 (e-PCR)
- UniSTS:166710

SHGC-144837 (e-PCR)
- UniSTS:182873

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of defense response to bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of interleukin-8 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of JNK cascade	IBA Inferred from Biological aspect of Ancestor 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 mitotic spindle pole	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: mitogen-activated protein kinase-binding protein 1

Names: JNK-binding protein 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_054745.1 RefSeqGene

Range

5051..58422

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001128608.2 → NP_001122080.1 mitogen-activated protein kinase-binding protein 1 isoform b

See identical proteins and their annotated locations for NP_001122080.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is longer than isoform a.

Source sequence(s)

AB011168, AC020659, AL833267, BC036660, BC113983, BC114493

Consensus CDS

CCDS45239.1

UniProtKB/Swiss-Prot

A6NM93, A8K8P9, O60336, Q14CB5, Q14CD8, Q49AJ8, Q5W9G9

UniProtKB/TrEMBL

B4DYK7

Related

ENSP00000393099.2, ENST00000456763.6

Conserved Domains (3) summary

COG2319
Location:228 → 725

WD40; WD40 repeat [General function prediction only]

sd00039
Location:484 → 519

7WD40; WD40 repeat [structural motif]

cl02567
Location:83 → 427

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001265611.2 → NP_001252540.1 mitogen-activated protein kinase-binding protein 1 isoform c

See identical proteins and their annotated locations for NP_001252540.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site and lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.

Source sequence(s)

AC020659, AL833267, BC036660, BC113983

Consensus CDS

CCDS58359.1

UniProtKB/Swiss-Prot

O60336

Related

ENSP00000426154.1, ENST00000514566.5

Conserved Domains (3) summary

COG2319
Location:228 → 719

WD40; WD40 repeat [General function prediction only]

sd00039
Location:478 → 513

7WD40; WD40 repeat [structural motif]

cl02567
Location:83 → 421

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_014994.3 → NP_055809.2 mitogen-activated protein kinase-binding protein 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform a.

Source sequence(s)

AB011168, AC020659, AL833267, BC036660, BC113983, BC114493

Consensus CDS

CCDS32201.1

UniProtKB/TrEMBL

B4DYK7

Related

ENSP00000397570.2, ENST00000457542.7

Conserved Domains (3) summary

COG2319
Location:228 → 719

WD40; WD40 repeat [General function prediction only]

sd00039
Location:478 → 513

7WD40; WD40 repeat [structural motif]

cl02567
Location:83 → 421

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RNA

NR_049761.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC020659, AL833267, BC036660
NR_049762.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC020659, AK302482, AL833267, BC036660