MAPK8IP3

Protein identityUniProt · HPA

UniProt accession

Q9UPT6

Gene

MAPK8IP3

Ensembl

ENSG00000138834

Chromosome

16

Canonical length

1336 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Vesicles

OverviewNCBI Gene

The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1336 residues, UniProt reviewed canonical sequence.

>Q9UPT6|MAPK8IP3
     1  MMEIQMDEGG GVVVYQDDYC SGSVMSERVS GLAGSIYREF ERLIHCYDEE VVKELMPLVV
    61  NVLENLDSVL SENQEHEVEL ELLREDNEQL LTQYEREKAL RRQAEEKFIE FEDALEQEKK
   121  ELQIQVEHYE FQTRQLELKA KNYADQISRL EERESEMKKE YNALHQRHTE MIQTYVEHIE
   181  RSKMQQVGGN SQTESSLPGR RKERPTSLNV FPLADGTVRA QIGGKLVPAG DHWHLSDLGQ
   241  LQSSSSYQCP QDEMSESGQS SAAATPSTTG TKSNTPTSSV PSAAVTPLNE SLQPLGDYGV
   301  GSKNSKRARE KRDSRNMEVQ VTQEMRNVSI GMGSSDEWSD VQDIIDSTPE LDMCPETRLD
   361  RTGSSPTQGI VNKAFGINTD SLYHELSTAG SEVIGDVDEG ADLLGEFSVR DDFFGMGKEV
   421  GNLLLENSQL LETKNALNVV KNDLIAKVDQ LSGEQEVLRG ELEAAKQAKV KLENRIKELE
   481  EELKRVKSEA IIARREPKEE AEDVSSYLCT ESDKIPMAQR RRFTRVEMAR VLMERNQYKE
   541  RLMELQEAVR WTEMIRASRE HPSVQEKKKS TIWQFFSRLF SSSSSPPPAK RPYPSVNIHY
   601  KSPTTAGFSQ RRNHAMCPIS AGSRPLEFFP DDDCTSSARR EQKREQYRQV REHVRNDDGR
   661  LQACGWSLPA KYKQLSPNGG QEDTRMKNVP VPVYCRPLVE KDPTMKLWCA AGVNLSGWRP
   721  NEDDAGNGVK PAPGRDPLTC DREGDGEPKS AHTSPEKKKA KELPEMDATS SRVWILTSTL
   781  TTSKVVIIDA NQPGTVVDQF TVCNAHVLCI SSIPAASDSD YPPGEMFLDS DVNPEDPGAD
   841  GVLAGITLVG CATRCNVPRS NCSSRGDTPV LDKGQGEVAT IANGKVNPSQ STEEATEATE
   901  VPDPGPSEPE TATLRPGPLT EHVFTDPAPT PSSGPQPGSE NGPEPDSSST RPEPEPSGDP
   961  TGAGSSAAPT MWLGAQNGWL YVHSAVANWK KCLHSIKLKD SVLSLVHVKG RVLVALADGT
  1021  LAIFHRGEDG QWDLSNYHLM DLGHPHHSIR CMAVVYDRVW CGYKNKVHVI QPKTMQIEKS
  1081  FDAHPRRESQ VRQLAWIGDG VWVSIRLDST LRLYHAHTHQ HLQDVDIEPY VSKMLGTGKL
  1141  GFSFVRITAL LVAGSRLWVG TGNGVVISIP LTETVVLHRG QLLGLRANKT SPTSGEGARP
  1201  GGIIHVYGDD SSDRAASSFI PYCSMAQAQL CFHGHRDAVK FFVSVPGNVL ATLNGSVLDS
  1261  PAEGPGPAAP ASEVEGQKLR NVLVLSGGEG YIDFRIGDGE DDETEEGAGD MSQVKPVLSK
  1321  AERSHIIVWQ VSYTPE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAPK8IP3 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)

0.49

Highest tissue expression

184 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MAPK8IP3.

Disease | AllUniProt

Conditions MAPK8IP3 is implicated in, by any mechanism.

• Neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) MIM:618443

Disease | GeneticClinVar

20 pathogenic / likely-pathogenic of 594 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder with or without variable brain abnormalities
• NEDBA
• Inborn genetic diseases
• MAPK8IP3-related disorder
• Neurodevelopmental 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)

0.15

gnomAD pLI

1

gnomAD missense Z

2.88

DepMap mean gene effect

-0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anterograde axonal protein transport
• axon development
• axon regeneration
• negative regulation of apoptotic process
• positive regulation of JNK cascade
• protein stabilization
• regulation of JNK cascade
• vesicle-mediated transport

Molecular functions

• JUN kinase binding
• kinesin binding
• MAP-kinase scaffold activity
• signaling receptor complex adaptor activity

Cellular components

• axon
• axon cytoplasm
• cell body
• cytoplasm
• cytoplasmic vesicle
• dendrite
• Golgi membrane
• growth cone
• perinuclear region of cytoplasm

Protein domainsUniProt · Pfam · InterPro

• WD40/YVTN repeat-like-containing domain superfamily
• JNK-interacting protein, leucine zipper II
• RH1 domain
• RH2 domain
• WD40-repeat-containing domain superfamily
• JNK-interacting protein 3/4
• RILP homology 1 domain
• JNK-interacting protein leucine zipper II
• WD40 repeated domain

KeywordsUniProt

• Cell projection
• Coiled coil
• Cytoplasm
• Cytoplasmic vesicle
• Golgi apparatus
• Intellectual disability
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of MAPK8IP3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ROCK1
• SH3RF2
• SULT4A1