Mapkbp1 mitogen-activated protein kinase binding protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mapkbp1provided by MGI
Official Full Name: mitogen-activated protein kinase binding protein 1provided by MGI
Primary source: MGI:MGI:1347004
See related: Ensembl:ENSMUSG00000033902 AllianceGenome:MGI:1347004
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Jnkbp1; JNKBP-1; mKIAA0596; 2810483F24Rik
Summary: Acts upstream of or within positive regulation of JNK cascade. Predicted to be located in cytoplasm; mitotic spindle pole; and nuclear lumen. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and integumental system. Human ortholog(s) of this gene implicated in nephronophthisis 20. Orthologous to human MAPKBP1 (mitogen-activated protein kinase binding protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis adult (RPKM 18.0), lung adult (RPKM 10.0) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E5; 2 60.03 cM

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (119802868..119857884)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (119972390..120027403)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
The Mapkbp1 protein could enhance the NF-kappaB activation induced by MAP kinase kinase kinase 7 and TNF Receptor-Associated Factor 2 , and could promote TNF Receptor-Associated Factor 2 polyubiquitination.
Title: JNK-binding protein 1 regulates NF-kappaB activation through TRAF2 and TAK1.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW123212 (e-PCR)
- UniSTS:178694

RH126436 (e-PCR)
- UniSTS:163144

AU048534 (e-PCR)
- UniSTS:144984

Mapkbp1 (e-PCR), detects polymorphism
- UniSTS:507055

Gene Ontology Provided by MGI

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	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of defense response to bacterium	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of interleukin-8 production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of JNK cascade	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of JNK cascade	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in mitotic spindle pole	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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

Names: JNK-binding protein 1; Jun N-terminal kinase 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.

mRNA and Protein(s)

NM_001355293.1 → NP_001342222.1 mitogen-activated protein kinase-binding protein 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL833774, AL954662

Consensus CDS

CCDS89541.1

UniProtKB/Swiss-Prot

A2AWL8, Q6NS57, Q80TW5, Q9R0L0

UniProtKB/TrEMBL

A0A2R8VK23

Related

ENSMUSP00000155163.2, ENSMUST00000229024.2

Conserved Domains (2) summary

sd00039
Location:485 → 520

7WD40; WD40 repeat [structural motif]

cl29593
Location:350 → 732

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_011941.3 → NP_036071.3 mitogen-activated protein kinase-binding protein 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AI152107, BC070449, BQ174980, CX569009

Consensus CDS

CCDS16612.1

UniProtKB/Swiss-Prot

A2AWL8, Q6NS57, Q80TW5, Q9R0L0

UniProtKB/TrEMBL

A0A0A0MQA2

Related

ENSMUSP00000068516.8, ENSMUST00000066058.8

Conserved Domains (2) summary

sd00039
Location:479 → 514

7WD40; WD40 repeat [structural motif]

cl29593
Location:84 → 422

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 ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

119802868..119857884

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036162226.1 → XP_036018119.1 mitogen-activated protein kinase-binding protein 1 isoform X1

UniProtKB/Swiss-Prot

A2AWL8, Q6NS57, Q80TW5, Q9R0L0

UniProtKB/TrEMBL

A0A2R8VK23

Conserved Domains (2) summary

sd00039
Location:485 → 520

7WD40; WD40 repeat [structural motif]

cl29593
Location:350 → 732

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 ...
XM_036162225.1 → XP_036018118.1 mitogen-activated protein kinase-binding protein 1 isoform X1

UniProtKB/Swiss-Prot

A2AWL8, Q6NS57, Q80TW5, Q9R0L0

UniProtKB/TrEMBL

A0A2R8VK23

Conserved Domains (2) summary

sd00039
Location:485 → 520

7WD40; WD40 repeat [structural motif]

cl29593
Location:350 → 732

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 ...
XM_030251566.2 → XP_030107426.1 mitogen-activated protein kinase-binding protein 1 isoform X2

UniProtKB/Swiss-Prot

A2AWL8, Q6NS57, Q80TW5, Q9R0L0

UniProtKB/TrEMBL

A0A0A0MQA2

Conserved Domains (2) summary

sd00039
Location:479 → 514

7WD40; WD40 repeat [structural motif]

cl29593
Location:84 → 422

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 ...
XM_036162227.1 → XP_036018120.1 mitogen-activated protein kinase-binding protein 1 isoform X3

UniProtKB/Swiss-Prot

A2AWL8, Q6NS57, Q80TW5, Q9R0L0

Conserved Domains (2) summary

sd00039
Location:372 → 407

7WD40; WD40 repeat [structural motif]

cl29593
Location:237 → 619

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 ...