MPP4
MAGUK p55 subfamily member 4
Also known as: DLG6, MPP4_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96JB8
- Gene
- MPP4
- Ensembl
- ENSG00000082126
- Chromosome
- 2
- Canonical length
- 637 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Actin filaments,Cytosol
OverviewNCBI Gene
This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
637 residues, UniProt reviewed canonical sequence.
>Q96JB8|MPP4
1 MIQSDKGADP PDKKDMKLST ATNPQNGLSQ ILRLVLQELS LFYGRDVNGV CLLYDLLHSP
61 WLQALLKIYD CLQEFKEKKL VPATPHAQVL SYEVVELLRE TPTSPEIQEL RQMLQAPHFK
121 ALLSAHDTIA QKDFEPLLPP LPDNIPESEE AMRIVCLVKN QQPLGATIKR HEMTGDILVA
181 RIIHGGLAER SGLLYAGDKL VEVNGVSVEG LDPEQVIHIL AMSRGTIMFK VVPVSDPPVN
241 SQQMVYVRAM TEYWPQEDPD IPCMDAGLPF QKGDILQIVD QNDALWWQAR KISDPATCAG
301 LVPSNHLLKR KQREFWWSQP YQPHTCLKST LSISMEEEDD MKIDEKCVEA DEETFESEEL
361 SEDKEEFVGY GQKFFIAGFR RSMRLCRRKS HLSPLHASVC CTGSCYSAVG APYEEVVRYQ
421 RRPSDKYRLI VLMGPSGVGV NELRRQLIEF NPSHFQSAVP HTTRTKKSYE MNGREYHYVS
481 KETFENLIYS HRMLEYGEYK GHLYGTSVDA VQTVLVEGKI CVMDLEPQDI QGVRTHELKP
541 YVIFIKPSNM RCMKQSRKNA KVITDYYVDM KFKDEDLQEM ENLAQRMETQ FGQFFDHVIV
601 NDSLHDACAQ LLSAIQKAQE EPQWVPATWI SSDTESQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MPP4 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)
- 0.38
- Highest tissue expression
- 265 nTPM
Expression across tissuesHPA
Tissue
- retina: 265 nTPM
- cerebellum: 1.5 nTPM
- spleen: 1.4 nTPM
- skin: 0.8 nTPM
- cervix: 0.5 nTPM
- vagina: 0.5 nTPM
Single-cell type
- cone photoreceptor cells: 1,344 nCPM
- rod photoreceptor cells: 930 nCPM
- retinal horizontal cells: 30 nCPM
- retinal ganglion cells: 19 nCPM
- melanocytes: 18 nCPM
- cardiomyocytes: 17 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 2.7 nTPM
- medulla oblongata: 1.2 nTPM
- cerebral cortex: 0.8 nTPM
- hippocampal formation: 0.6 nTPM
- white matter: 0.6 nTPM
- basal ganglia: 0.5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MPP4.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 111 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Disease | ImmuneIEDB
Conditions an epitope on MPP4 was assayed in.
- ankylosing spondylitis T cell
- autoimmune uveitis T cell
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)
- 1.06
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.45
- DepMap mean gene effect
- 0.11
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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
- SH3 domain
- PDZ domain
- L27 domain
- Guanylate kinase-like domain
- Guanylate kinase/L-type calcium channel beta subunit
- L27 domain, C-terminal
- Guanylate kinase, conserved site
- P-loop containing nucleoside triphosphate hydrolase
- SH3-like domain superfamily
- PDZ superfamily
- L27 domain superfamily
- Membrane-associated guanylate kinase
- PDZ domain
- Guanylate kinase
- L27 domain
- MPP4, SH3 domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MPP4 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 MPP4 as an antibody target. Whether an autoantibody or antibody against MPP4 could matter depends on whether native MPP4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MPP4 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 MPP4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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