Seroatlas · Human Serome Atlas

MAPKBP1

Mitogen-activated protein kinase-binding protein 1

Also known as: KIAA0596, MABP1_HUMAN, NPHP20

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O60336
Gene: MAPKBP1
Ensembl: ENSG00000137802
Chromosome: 15
Canonical length: 1514 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli,Nucleoli rim
Quaternary structure: Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1514 residues, UniProt reviewed canonical sequence.

>O60336|MAPKBP1
     1  MAVEGSTITS RIKNLLRSPS IKLRRSKAGN RREDLSSKVT LEKVLGITVS GGRGLACDPR
    61  SGLVAYPAGC VVVLFNPRKH KQHHILNSSR KTITALAFSP DGKYLVTGES GHMPAVRVWD
   121  VAEHSQVAEL QEHKYGVACV AFSPSAKYIV SVGYQHDMIV NVWAWKKNIV VASNKVSSRV
   181  TAVSFSEDCS YFVTAGNRHI KFWYLDDSKT SKVNATVPLL GRSGLLGELR NNLFTDVACG
   241  RGKKADSTFC ITSSGLLCEF SDRRLLDKWV ELRNIDSFTT TVAHCISVSQ DYIFCGCADG
   301  TVRLFNPSNL HFLSTLPRPH ALGTDIASVT EASRLFSGVA NARYPDTIAL TFDPTNQWLS
   361  CVYNDHSIYV WDVRDPKKVG KVYSALYHSS CVWSVEVYPE VKDSNQACLP PSSFITCSSD
   421  NTIRLWNTES SGVHGSTLHR NILSSDLIKI IYVDGNTQAL LDTELPGGDK ADASLLDPRV
   481  GIRSVCVSPN GQHLASGDRM GTLRVHELQS LSEMLKVEAH DSEILCLEYS KPDTGLKLLA
   541  SASRDRLIHV LDAGREYSLQ QTLDEHSSSI TAVKFAASDG QVRMISCGAD KSIYFRTAQK
   601  SGDGVQFTRT HHVVRKTTLY DMDVEPSWKY TAIGCQDRNI RIFNISSGKQ KKLFKGSQGE
   661  DGTLIKVQTD PSGIYIATSC SDKNLSIFDF SSGECVATMF GHSEIVTGMK FSNDCKHLIS
   721  VSGDSCIFVW RLSSEMTISM RQRLAELRQR QRGGKQQGPS SPQRASGPNR HQAPSMLSPG
   781  PALSSDSDKE GEDEGTEEEL PALPVLAKST KKALASVPSP ALPRSLSHWE MSRAQESVGF
   841  LDPAPAANPG PRRRGRWVQP GVELSVRSML DLRQLETLAP SLQDPSQDSL AIIPSGPRKH
   901  GQEALETSLT SQNEKPPRPQ ASQPCSYPHI IRLLSQEEGV FAQDLEPAPI EDGIVYPEPS
   961  DNPTMDTSEF QVQAPARGTL GRVYPGSRSS EKHSPDSACS VDYSSSCLSS PEHPTEDSES
  1021  TEPLSVDGIS SDLEEPAEGD EEEEEEEGGM GPYGLQEGSP QTPDQEQFLK QHFETLASGA
  1081  APGAPVQVPE RSESRSISSR FLLQVQTRPL REPSPSSSSL ALMSRPAQVP QASGEQPRGN
  1141  GANPPGAPPE VEPSSGNPSP QQAASVLLPR CRLNPDSSWA PKRVATASPF SGLQKAQSVH
  1201  SLVPQERHEA SLQAPSPGAL LSREIEAQDG LGSLPPADGR PSRPHSYQNP TTSSMAKISR
  1261  SISVGENLGL VAEPQAHAPI RVSPLSKLAL PSRAHLVLDI PKPLPDRPTL AAFSPVTKGR
  1321  APGEAEKPGF PVGLGKAHST TERWACLGEG TTPKPRTECQ AHPGPSSPCA QQLPVSSLFQ
  1381  GPENLQPPPP EKTPNPMECT KPGAALSQDS EPAVSLEQCE QLVAELRGSV RQAVRLYHSV
  1441  AGCKMPSAEQ SRIAQLLRDT FSSVRQELEA VAGAVLSSPG SSPGAVGAEQ TQALLEQYSE
  1501  LLLRAVERRM ERKL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAPKBP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.46
Highest tissue expression: 70 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 70 nTPM
testis: 33 nTPM
skin: 23 nTPM
esophagus: 18 nTPM
cerebral cortex: 16 nTPM
ovary: 15 nTPM

Single-cell type

cone photoreceptor cells: 335 nCPM
basal keratinocytes: 257 nCPM
suprabasal keratinocytes: 222 nCPM
sertoli cells: 216 nCPM
choroid plexus epithelial cells: 106 nCPM
late spermatids: 100 nCPM

Immune cell

basophil: 1.1 nTPM
gdT-cell: 0.8 nTPM
MAIT T-cell: 0.6 nTPM
naive CD4 T-cell: 0.6 nTPM
NK-cell: 0.6 nTPM
non-classical monocyte: 0.6 nTPM

Brain region

cerebellum: 75 nTPM
cerebral cortex: 38 nTPM
amygdala: 33 nTPM
basal ganglia: 32 nTPM
choroid plexus: 32 nTPM
white matter: 31 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MAPKBP1.

Disease | AllUniProt

Conditions MAPKBP1 is implicated in, by any mechanism.

Nephronophthisis 20 (NPHP20) MIM:617271

Disease | GeneticClinVar

16 pathogenic / likely-pathogenic of 551 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Nephronophthisis 20
MAPKBP1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.41
gnomAD pLI: 0
gnomAD missense Z: 2.37
DepMap mean gene effect: -0.08
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

WD40 repeat
WD40/YVTN repeat-like-containing domain superfamily
WD40-repeat-containing domain superfamily
MABP1/WDR62, first WD40 domain
MABP1/WDR62, second WD40 domain
MABP1/WRD62, coiled-coil domain
MABP1/WDR62 first WD40 domain
MABP1/WDR62 second WD40 domain
WRD62/MABP1 coiled-coil
Mitogen-activated protein kinase-binding protein 1

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MAPKBP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MAPKBP1 as an antibody target. Whether an autoantibody or antibody against MAPKBP1 could matter depends on whether native MAPKBP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MAPKBP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MAPKBP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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