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Protein

Mitogen-activated protein kinase-binding protein 1

Gene

MAPKBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

  • negative regulation of defense response to bacterium Source: UniProtKB
  • negative regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
  • negative regulation of interleukin-8 secretion Source: UniProtKB
  • RNA splicing Source: GO_Central

Enzyme and pathway databases

SignaLinkiO60336.

Names & Taxonomyi

Protein namesi
Recommended name:
Mitogen-activated protein kinase-binding protein 1
Alternative name(s):
JNK-binding protein 1
Short name:
JNKBP-1
Gene namesi
Name:MAPKBP1
Synonyms:JNKBP1, KIAA0596
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:29536. MAPKBP1.

Subcellular locationi

GO - Cellular componenti

  • catalytic step 2 spliceosome Source: GO_Central
  • cytoplasm Source: UniProtKB
  • mitotic spindle pole Source: UniProtKB
  • precatalytic spliceosome Source: GO_Central
  • U5 snRNP Source: GO_Central

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Nephronophthisis 20 (NPHP20)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of nephronophthisis, an autosomal recessive chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis. NPHP20 patients do not show extrarenal manifestations or evidence of a ciliopathy, such as situs inversus or polydactyly.
See also OMIM:617271
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077958544R → Q in NPHP20; unknown pathological significance; no effect on localization at the spindle pole; no effect on interaction with WDR62; no effect on interaction with MAPK9. 1 Publication1

Keywords - Diseasei

Disease mutation, Nephronophthisis

Organism-specific databases

DisGeNETi23005.
MIMi617271. phenotype.
OpenTargetsiENSG00000137802.
PharmGKBiPA142671479.

Polymorphism and mutation databases

BioMutaiMAPKBP1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00003341582 – 1514Mitogen-activated protein kinase-binding protein 1Add BLAST1513

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei1198PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO60336.
MaxQBiO60336.
PaxDbiO60336.
PeptideAtlasiO60336.
PRIDEiO60336.

PTM databases

iPTMnetiO60336.
PhosphoSitePlusiO60336.

Expressioni

Tissue specificityi

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).2 Publications

Gene expression databases

BgeeiENSG00000137802.
CleanExiHS_MAPKBP1.
ExpressionAtlasiO60336. baseline and differential.
GenevisibleiO60336. HS.

Organism-specific databases

HPAiHPA030832.
HPA030833.

Interactioni

Subunit structurei

Can form homodimers (via C-terminus) (PubMed:23341463). Interacts (via C-terminus) with WDR62 (via C-terminus) (PubMed:23341463, PubMed:28089251). Interacts with MAPK9 (PubMed:28089251). Interacts (via N-terminus) with NOD2; the interaction is enhanced in presence of muramyl dipeptide (MDP) (PubMed:22700971). Interacts with MAPK10 (By similarity).By similarity3 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi116650. 31 interactors.
IntActiO60336. 59 interactors.
MINTiMINT-2870106.
STRINGi9606.ENSP00000393099.

Structurei

3D structure databases

ProteinModelPortaliO60336.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati88 – 129WD 1Add BLAST42
Repeati132 – 173WD 2Add BLAST42
Repeati175 – 213WD 3Add BLAST39
Repeati276 – 315WD 4Add BLAST40
Repeati342 – 381WD 5Add BLAST40
Repeati387 – 436WD 6Add BLAST50
Repeati477 – 516WD 7Add BLAST40
Repeati519 – 561WD 8Add BLAST43
Repeati565 – 606WD 9Add BLAST42
Repeati614 – 653WD 10Add BLAST40
Repeati659 – 698WD 11Add BLAST40
Repeati701 – 740WD 12Add BLAST40

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1041 – 1047Poly-Glu7
Compositional biasi1114 – 1119Poly-Ser6
Compositional biasi1387 – 1390Poly-Pro4

Domaini

The N-terminal WD40 domain is necessary for the interaction with NOD2 and down-regulation of NOD2 function.1 Publication

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG1408. Eukaryota.
ENOG410Y87A. LUCA.
GeneTreeiENSGT00890000139435.
HOVERGENiHBG108669.
InParanoidiO60336.
OMAiPDQEQFL.
OrthoDBiEOG091G00HU.
PhylomeDBiO60336.
TreeFamiTF323254.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiView protein in InterPro
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
PfamiView protein in Pfam
PF00400. WD40. 7 hits.
SMARTiView protein in SMART
SM00320. WD40. 12 hits.
SUPFAMiSSF50978. SSF50978. 4 hits.
PROSITEiView protein in PROSITE
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 3 hits.

Sequences (6)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O60336-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAVEGSTITS RIKNLLRSPS IKLRRSKAGN RREDLSSKVT LEKVLGITVS
60 70 80 90 100
GGRGLACDPR SGLVAYPAGC VVVLFNPRKH KQHHILNSSR KTITALAFSP
110 120 130 140 150
DGKYLVTGES GHMPAVRVWD VAEHSQVAEL QEHKYGVACV AFSPSAKYIV
160 170 180 190 200
SVGYQHDMIV NVWAWKKNIV VASNKVSSRV TAVSFSEDCS YFVTAGNRHI
210 220 230 240 250
KFWYLDDSKT SKVNATVPLL GRSGLLGELR NNLFTDVACG RGKKADSTFC
260 270 280 290 300
ITSSGLLCEF SDRRLLDKWV ELRNIDSFTT TVAHCISVSQ DYIFCGCADG
310 320 330 340 350
TVRLFNPSNL HFLSTLPRPH ALGTDIASVT EASRLFSGVA NARYPDTIAL
360 370 380 390 400
TFDPTNQWLS CVYNDHSIYV WDVRDPKKVG KVYSALYHSS CVWSVEVYPE
410 420 430 440 450
VKDSNQACLP PSSFITCSSD NTIRLWNTES SGVHGSTLHR NILSSDLIKI
460 470 480 490 500
IYVDGNTQAL LDTELPGGDK ADASLLDPRV GIRSVCVSPN GQHLASGDRM
510 520 530 540 550
GTLRVHELQS LSEMLKVEAH DSEILCLEYS KPDTGLKLLA SASRDRLIHV
560 570 580 590 600
LDAGREYSLQ QTLDEHSSSI TAVKFAASDG QVRMISCGAD KSIYFRTAQK
610 620 630 640 650
SGDGVQFTRT HHVVRKTTLY DMDVEPSWKY TAIGCQDRNI RIFNISSGKQ
660 670 680 690 700
KKLFKGSQGE DGTLIKVQTD PSGIYIATSC SDKNLSIFDF SSGECVATMF
710 720 730 740 750
GHSEIVTGMK FSNDCKHLIS VSGDSCIFVW RLSSEMTISM RQRLAELRQR
760 770 780 790 800
QRGGKQQGPS SPQRASGPNR HQAPSMLSPG PALSSDSDKE GEDEGTEEEL
810 820 830 840 850
PALPVLAKST KKALASVPSP ALPRSLSHWE MSRAQESVGF LDPAPAANPG
860 870 880 890 900
PRRRGRWVQP GVELSVRSML DLRQLETLAP SLQDPSQDSL AIIPSGPRKH
910 920 930 940 950
GQEALETSLT SQNEKPPRPQ ASQPCSYPHI IRLLSQEEGV FAQDLEPAPI
960 970 980 990 1000
EDGIVYPEPS DNPTMDTSEF QVQAPARGTL GRVYPGSRSS EKHSPDSACS
1010 1020 1030 1040 1050
VDYSSSCLSS PEHPTEDSES TEPLSVDGIS SDLEEPAEGD EEEEEEEGGM
1060 1070 1080 1090 1100
GPYGLQEGSP QTPDQEQFLK QHFETLASGA APGAPVQVPE RSESRSISSR
1110 1120 1130 1140 1150
FLLQVQTRPL REPSPSSSSL ALMSRPAQVP QASGEQPRGN GANPPGAPPE
1160 1170 1180 1190 1200
VEPSSGNPSP QQAASVLLPR CRLNPDSSWA PKRVATASPF SGLQKAQSVH
1210 1220 1230 1240 1250
SLVPQERHEA SLQAPSPGAL LSREIEAQDG LGSLPPADGR PSRPHSYQNP
1260 1270 1280 1290 1300
TTSSMAKISR SISVGENLGL VAEPQAHAPI RVSPLSKLAL PSRAHLVLDI
1310 1320 1330 1340 1350
PKPLPDRPTL AAFSPVTKGR APGEAEKPGF PVGLGKAHST TERWACLGEG
1360 1370 1380 1390 1400
TTPKPRTECQ AHPGPSSPCA QQLPVSSLFQ GPENLQPPPP EKTPNPMECT
1410 1420 1430 1440 1450
KPGAALSQDS EPAVSLEQCE QLVAELRGSV RQAVRLYHSV AGCKMPSAEQ
1460 1470 1480 1490 1500
SRIAQLLRDT FSSVRQELEA VAGAVLSSPG SSPGAVGAEQ TQALLEQYSE
1510
LLLRAVERRM ERKL
Length:1,514
Mass (Da):163,818
Last modified:November 25, 2008 - v4
Checksum:i13FD125E44CABBFD
GO
Isoform 2 (identifier: O60336-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     274-279: Missing.
     1134-1410: Missing.

Note: No experimental confirmation available.
Show »
Length:1,231
Mass (Da):134,309
Checksum:i562B680D20C616B0
GO
Isoform 3 (identifier: O60336-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     274-396: Missing.
     1411-1412: Missing.

Show »
Length:1,389
Mass (Da):149,945
Checksum:i3AD9E18431DA7614
GO
Isoform 4 (identifier: O60336-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-499: Missing.

Note: No experimental confirmation available.
Show »
Length:1,015
Mass (Da):109,155
Checksum:i2E47B6DD20087E6E
GO
Isoform 5 (identifier: O60336-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     214-215: NA → RC
     216-1514: Missing.

Note: No experimental confirmation available.
Show »
Length:215
Mass (Da):23,707
Checksum:i5FFAA575381E3C07
GO
Isoform 6 (identifier: O60336-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     274-279: Missing.

Note: No experimental confirmation available.
Show »
Length:1,508
Mass (Da):163,141
Checksum:i332C0E0E9ABD2B91
GO

Sequence cautioni

The sequence BAA25522 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti843P → S in AAH36660 (PubMed:15489334).Curated1
Sequence conflicti1444K → R in AL833267 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043343204Y → S. Corresponds to variant dbSNP:rs4354909Ensembl.1
Natural variantiVAR_043344313L → V. Corresponds to variant dbSNP:rs1201689Ensembl.1
Natural variantiVAR_077958544R → Q in NPHP20; unknown pathological significance; no effect on localization at the spindle pole; no effect on interaction with WDR62; no effect on interaction with MAPK9. 1 Publication1
Natural variantiVAR_0433451240R → P4 PublicationsCorresponds to variant dbSNP:rs3959569Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0336291 – 499Missing in isoform 4. 1 PublicationAdd BLAST499
Alternative sequenceiVSP_033630214 – 215NA → RC in isoform 5. 1 Publication2
Alternative sequenceiVSP_033631216 – 1514Missing in isoform 5. 1 PublicationAdd BLAST1299
Alternative sequenceiVSP_033632274 – 396Missing in isoform 3. 2 PublicationsAdd BLAST123
Alternative sequenceiVSP_033633274 – 279Missing in isoform 2 and isoform 6. 2 Publications6
Alternative sequenceiVSP_0336341134 – 1410Missing in isoform 2. 1 PublicationAdd BLAST277
Alternative sequenceiVSP_0336351411 – 1412Missing in isoform 3. 2 Publications2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB177850 mRNA. Translation: BAD66828.1.
AB011168 mRNA. Translation: BAA25522.2. Different initiation.
AK292414 mRNA. Translation: BAF85103.1.
AL833267 mRNA. No translation available.
AC020659 Genomic DNA. No translation available.
AC073657 Genomic DNA. No translation available.
CH471125 Genomic DNA. Translation: EAW92516.1.
BC036660 mRNA. Translation: AAH36660.1.
BC113983 mRNA. Translation: AAI13984.1.
BC114493 mRNA. Translation: AAI14494.1.
CCDSiCCDS32201.1. [O60336-6]
CCDS45239.1. [O60336-1]
CCDS58359.1. [O60336-2]
PIRiT00270.
RefSeqiNP_001122080.1. NM_001128608.1. [O60336-1]
NP_001252540.1. NM_001265611.1. [O60336-2]
NP_055809.2. NM_014994.2. [O60336-6]
UniGeneiHs.513661.

Genome annotation databases

EnsembliENST00000456763; ENSP00000393099; ENSG00000137802. [O60336-1]
ENST00000457542; ENSP00000397570; ENSG00000137802. [O60336-6]
ENST00000514566; ENSP00000426154; ENSG00000137802. [O60336-2]
GeneIDi23005.
KEGGihsa:23005.
UCSCiuc001zoj.4. human. [O60336-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMABP1_HUMAN
AccessioniPrimary (citable) accession number: O60336
Secondary accession number(s): A6NM93
, A8K8P9, Q14CB5, Q14CD8, Q49AJ8, Q5W9G9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: November 25, 2008
Last modified: August 30, 2017
This is version 138 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot