MAPKBP1 - mitogen-activated protein kinase binding protein 1 Gene

Homo sapiens

Also known as JNKBP1; NPHP20; JNKBP-1

Gene ID: 23005 | Gene type: protein coding

About MAPKBP1

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:41,774,484-41,827,855 (from NCBI)

This gene has 17 transcripts (splice variants), 121 orthologues, 26 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 16.2), skin (RPKM 11.0) and 23 other tissues.

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]

MAPKBP1 Products(3)

mRNA	Protein	Name
NM_001128608.2	NP_001122080.1	mitogen-activated protein kinase-binding protein 1 isoform b
NM_001265611.2	NP_001252540.1	mitogen-activated protein kinase-binding protein 1 isoform c
NM_014994.3	NP_055809.2	mitogen-activated protein kinase-binding protein 1 isoform a

MAPKBP1 Protein Structure

WD40

0
300
600
900
1200
1514 a.a.

Protein Preferred Names

Protein Names

mitogen-activated protein kinase-binding protein 1

JNK-binding protein 1

Related Diseases

Diseases

Alias

Nephronophthisis 20

NPHP20

Late-Onset Nephronophthisis

Juvenile Nephronophthisis

Nephronophthisis

Nephronophthisis, Familial Juvenile

Nephronophthisis

Medullary Cystic Disease	Medullary Cystic Kidney
Nph	Nphp
Kidney Disease, Cystic, Medullary

Nephronophthisis 7

NPHP7

Nephronophthisis, Type 7

Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Nevo Syndrome	Eds Vi
Ehlers-Danlos Syndrome, Type Vi	Eds Via
Ehlers-Danlos Syndrome Type 6	EDSKSCL1
Eds6	Ehlers-Danlos Syndrome Kyphoscoliotic Type 1
Kyphoscoliotic Ehlers-Danlos Syndrome	Cutis Hyperelastica
Ehlers-Danlos Syndrome Type 6a	Ehlers-Danlos Syndrome Oculoscoliotic Type
Kyphoscoliotic Eds	Kyphoscoliotic Eds Due To Lysyl Hydroxylase 1 Deficiency
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Lysyl Hydroxylase-Deficient Eds
Ocular-Scoliotic Eds	Keds
Keds-Plod1	Ehlers-Danlos Syndrome, Kyphoscoliotic Type 1
Ehlers-Danlos Syndrome, Ocular-Scoliotic Type	Ehlers-Danlos Syndrome, Type Via, Formerly
Eds6a, Formerly	Eds 6
Eds, Kyphoscoliotic Type	Eds, Oculoscoliotic Type
Ehlers-Danlos Syndrome, Kyphoscoliosis Type	Ehlers-Danlos Syndrome, Kyphoscoliotic Type
Ehlers-Danlos Syndrome, Oculoscoliotic Type	Eds6a
Ehlers-Danlos Syndrome 6	Ehlers-Danlos Syndrome Kyphoscoliotic Type

Interstitial Nephritis

Nephritis, Interstitial	Renal Tubulo-Interstitial Disease
Nephritis Interstitial	Nephritis, Tubulointerstitial

Nephronophthisis 16

NPHP16

Nephronophthisis, Type 16

Nephronophthisis 14

Joubert Syndrome 19	NPHP14
JBTS19	Nephronophthisis, Type 14

Situs Inversus

Situs Inversus Viscerum	Laterality Sequence
Complete Transposition	Siv

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly	Mcph
True Microcephaly	Microcephalia Vera
Microcephaly Vera	Microcephaly Primary Hereditary
Microcephaly, Primary, Autosomal Recessive	Primary Microcephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08136	MAPKBP1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	MAPKBP1	VGNC	VGNC:43009
Rattus norvegicus	MAPKBP1	RGD	RGD:1307578
Mus musculus	MAPKBP1	MGD	MGI:1347004
Bos taurus	MAPKBP1	VGNC	VGNC:31231
Macaca mulatta	MAPKBP1	VGNC	VGNC:74613

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