Gene Gene information from NCBI Gene database.
Entrez ID 23005
Gene name Mitogen-activated protein kinase binding protein 1
Gene symbol MAPKBP1
Synonyms (NCBI Gene)
JNKBP-1JNKBP1NPHP20
Chromosome 15
Chromosome location 15q15.1
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 pro
SNPs SNP information provided by dbSNP.
7
SNP ID Visualize variation Clinical significance Consequence
rs202001274 C>G,T Pathogenic Missense variant, intron variant, coding sequence variant, non coding transcript variant, stop gained
rs752616462 C>G,T Pathogenic Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs1057519303 C>T Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs1057519304 C>A,T Pathogenic Stop gained, synonymous variant, non coding transcript variant, coding sequence variant
rs1057519305 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
218
miRTarBase ID miRNA Experiments Reference
MIRT715515 hsa-miR-29b-3p HITS-CLIP 19536157
MIRT715514 hsa-miR-29c-3p HITS-CLIP 19536157
MIRT715513 hsa-miR-29a-3p HITS-CLIP 19536157
MIRT715512 hsa-miR-6800-3p HITS-CLIP 19536157
MIRT715511 hsa-miR-3065-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IEA
GO:0005515 Function Protein binding IPI 22700971, 25416956, 28089251, 32296183
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005730 Component Nucleolus IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616786 29536 ENSG00000137802
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60336
Protein name Mitogen-activated protein kinase-binding protein 1 (JNK-binding protein 1) (JNKBP-1)
Protein 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). {ECO:0000250
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 75 120 WD domain, G-beta repeat Repeat
PF00400 WD40 125 163 WD domain, G-beta repeat Repeat
PF00400 WD40 168 203 WD domain, G-beta repeat Repeat
PF00400 WD40 272 306 WD domain, G-beta repeat Repeat
PF00400 WD40 326 372 WD domain, G-beta repeat Repeat
PF00400 WD40 381 427 WD domain, G-beta repeat Repeat
PF00400 WD40 693 731 WD domain, G-beta repeat Repeat
Tissue specificity 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). {ECO:0000269|PubMed:227009
Sequence
MAVEGSTITSRIKNLLRSPSIKLRRSKAGNRREDLSSKVTLEKVLGITVSGGRGLACDPR
SGLVAYPAGCVVVLFNPRKHKQHHILNSSRKTITALAFSPDGKYLVTGESGHMPAVRVWD
VAEHSQVAELQEHKYGVACVAFSPSAKYIVSVGYQHDMIVNVWAWKKNIVVASNKVSSRV
TAVSFSEDCSYFVTAGNRHIKFW
YLDDSKTSKVNATVPLLGRSGLLGELRNNLFTDVACG
RGKKADSTFCITSSGLLCEFSDRRLLDKWVELRNIDSFTTTVAHCISVSQDYIFCGCADG
TVRLFN
PSNLHFLSTLPRPHALGTDIASVTEASRLFSGVANARYPDTIALTFDPTNQWLS
CVYNDHSIYVWD
VRDPKKVGKVYSALYHSSCVWSVEVYPEVKDSNQACLPPSSFITCSSD
NTIRLWN
TESSGVHGSTLHRNILSSDLIKIIYVDGNTQALLDTELPGGDKADASLLDPRV
GIRSVCVSPNGQHLASGDRMGTLRVHELQSLSEMLKVEAHDSEILCLEYSKPDTGLKLLA
SASRDRLIHVLDAGREYSLQQTLDEHSSSITAVKFAASDGQVRMISCGADKSIYFRTAQK
SGDGVQFTRTHHVVRKTTLYDMDVEPSWKYTAIGCQDRNIRIFNISSGKQKKLFKGSQGE
DGTLIKVQTDPSGIYIATSCSDKNLSIFDFSSGECVATMFGHSEIVTGMKFSNDCKHLIS
VSGDSCIFVWR
LSSEMTISMRQRLAELRQRQRGGKQQGPSSPQRASGPNRHQAPSMLSPG
PALSSDSDKEGEDEGTEEELPALPVLAKSTKKALASVPSPALPRSLSHWEMSRAQESVGF
LDPAPAANPGPRRRGRWVQPGVELSVRSMLDLRQLETLAPSLQDPSQDSLAIIPSGPRKH
GQEALETSLTSQNEKPPRPQASQPCSYPHIIRLLSQEEGVFAQDLEPAPIEDGIVYPEPS
DNPTMDTSEFQVQAPARGTLGRVYPGSRSSEKHSPDSACSVDYSSSCLSSPEHPTEDSES
TEPLSVDGISSDLEEPAEGDEEEEEEEGGMGPYGLQEGSPQTPDQEQFLKQHFETLASGA
APGAPVQVPERSESRSISSRFLLQVQTRPLREPSPSSSSLALMSRPAQVPQASGEQPRGN
GANPPGAPPEVEPSSGNPSPQQAASVLLPRCRLNPDSSWAPKRVATASPFSGLQKAQSVH
SLVPQERHEASLQAPSPGALLSREIEAQDGLGSLPPADGRPSRPHSYQNPTTSSMAKISR
SISVGENLGLVAEPQAHAPIRVSPLSKLALPSRAHLVLDIPKPLPDRPTLAAFSPVTKGR
APGEAEKPGFPVGLGKAHSTTERWACLGEGTTPKPRTECQAHPGPSSPCAQQLPVSSLFQ
GPENLQPPPPEKTPNPMECTKPGAALSQDSEPAVSLEQCEQLVAELRGSVRQAVRLYHSV
AGCKMPSAEQSRIAQLLRDTFSSVRQELEAVAGAVLSSPGSSPGAVGAEQTQALLEQYSE
LLLRAVERRMERKL
Sequence length 1514
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
84
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
MAPKBP1-related disorder Likely pathogenic; Pathogenic rs2152080114, rs1219418471 RCV003418358
RCV003939726
Nephronophthisis 20 Likely pathogenic; Pathogenic rs2152080114, rs2551103543, rs1057519303, rs1057519304, rs202001274, rs1057519305, rs1057519306, rs752616462, rs1596088812 RCV002052245
RCV003990406
RCV000415517
RCV000415560
RCV000415593
RCV000415534
RCV000415552
RCV000415598
RCV000984998
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs200801597 RCV005925876
Clear cell carcinoma of kidney Benign; Likely benign rs144329674, rs141865866 RCV005906408
RCV005904808
Familial cancer of breast Benign rs144329674 RCV005906407
Gastric cancer Benign rs200801597 RCV005925877
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ciliopathies Associate 32055034
Kidney Diseases Associate 32505465
Leukemia Myeloid Acute Associate 25924238
Nephronophthisis familial juvenile Associate 32505465
Renal Insufficiency Chronic Associate 32505465