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

Gene ID: 23005, updated on 2-Oct-2018

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; Vega:OTTHUMG00000160227
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

Genomic context

See MAPKBP1 in Genome Data Viewer
Location:
15q15.1
Exon count:
33
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (41774434..41827855)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (42066632..42120053)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370791 Neighboring gene MGA, MAX dimerization protein Neighboring gene microRNA 626 Neighboring gene JMJD7-PLA2G4B readthrough Neighboring gene jumonji domain containing 7 Neighboring gene phospholipase A2 group IVB Neighboring gene spectrin beta, non-erythrocytic 5

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Nephronophthisis 20
MedGen: C4310640 OMIM: 617271 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138851, MGC138852

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
mitotic spindle pole IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_054745.1 RefSeqGene

    Range
    5001..58422
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001128608.1NP_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
    O60336
    Related
    ENSP00000393099.2, OTTHUMP00000217817, ENST00000456763.6, OTTHUMT00000359745
    Conserved Domains (3) summary
    COG2319
    Location:228725
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:484519
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:83427
    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 ...
  2. NM_001265611.1NP_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, OTTHUMP00000217820, ENST00000514566.5, OTTHUMT00000359749
    Conserved Domains (3) summary
    COG2319
    Location:228719
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:478513
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:83421
    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 ...
  3. NM_014994.2NP_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/Swiss-Prot
    O60336
    Related
    ENSP00000397570.2, OTTHUMP00000217816, ENST00000457542.6, OTTHUMT00000359744
    Conserved Domains (3) summary
    COG2319
    Location:228719
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:478513
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:83421
    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

  1. NR_049761.1 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
  2. NR_049762.1 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    41774434..41827855
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521383.2XP_011519685.1  mitogen-activated protein kinase-binding protein 1 isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:228676
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:435470
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:432686
    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 ...
  2. XM_006720438.2XP_006720501.1  mitogen-activated protein kinase-binding protein 1 isoform X2

    Conserved Domains (3) summary
    COG2319
    Location:228670
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:429464
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:426680
    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 ...
  3. XM_011521384.3XP_011519686.1  mitogen-activated protein kinase-binding protein 1 isoform X3

    Conserved Domains (3) summary
    COG2319
    Location:228725
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:484519
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:83427
    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 ...
  4. XM_017022017.1XP_016877506.1  mitogen-activated protein kinase-binding protein 1 isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:228676
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:435470
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:432686
    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 ...
  5. XM_006720439.2XP_006720502.1  mitogen-activated protein kinase-binding protein 1 isoform X4

    Conserved Domains (3) summary
    COG2319
    Location:1152
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:3676
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:1155
    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

  1. XR_001751159.2 RNA Sequence

  2. XR_001751157.2 RNA Sequence

  3. XR_001751156.2 RNA Sequence

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