MPDZ
Multiple PDZ domain protein
Also known as: MPDZ_HUMAN, MUPP1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75970
- Gene
- MPDZ
- Ensembl
- ENSG00000107186
- Chromosome
- 9
- Canonical length
- 2070 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Centriolar satellite,Basal body
OverviewNCBI Gene
The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Canonical amino-acid sequenceUniProt
2070 residues, UniProt reviewed canonical sequence.
>O75970|MPDZ
1 MLEAIDKNRA LHAAERLQTK LRERGDVANE DKLSLLKSVL QSPLFSQILS LQTSVQQLKD
61 QVNIATSATS NIEYAHVPHL SPAVIPTLQN ESFLLSPNNG NLEALTGPGI PHINGKPACD
121 EFDQLIKNMA QGRHVEVFEL LKPPSGGLGF SVVGLRSENR GELGIFVQEI QEGSVAHRDG
181 RLKETDQILA INGQALDQTI THQQAISILQ KAKDTVQLVI ARGSLPQLVS PIVSRSPSAA
241 STISAHSNPV HWQHMETIEL VNDGSGLGFG IIGGKATGVI VKTILPGGVA DQHGRLCSGD
301 HILKIGDTDL AGMSSEQVAQ VLRQCGNRVK LMIARGAIEE RTAPTALGIT LSSSPTSTPE
361 LRVDASTQKG EESETFDVEL TKNVQGLGIT IAGYIGDKKL EPSGIFVKSI TKSSAVEHDG
421 RIQIGDQIIA VDGTNLQGFT NQQAVEVLRH TGQTVLLTLM RRGMKQEAEL MSREDVTKDA
481 DLSPVNASII KENYEKDEDF LSSTRNTNIL PTEEEGYPLL SAEIEEIEDA QKQEAALLTK
541 WQRIMGINYE IVVAHVSKFS ENSGLGISLE ATVGHHFIRS VLPEGPVGHS GKLFSGDELL
601 EVNGITLLGE NHQDVVNILK ELPIEVTMVC CRRTVPPTTQ SELDSLDLCD IELTEKPHVD
661 LGEFIGSSET EDPVLAMTDA GQSTEEVQAP LAMWEAGIQH IELEKGSKGL GFSILDYQDP
721 IDPASTVIII RSLVPGGIAE KDGRLLPGDR LMFVNDVNLE NSSLEEAVEA LKGAPSGTVR
781 IGVAKPLPLS PEEGYVSAKE DSFLYPPHSC EEAGLADKPL FRADLALVGT NDADLVDEST
841 FESPYSPEND SIYSTQASIL SLHGSSCGDG LNYGSSLPSS PPKDVIENSC DPVLDLHMSL
901 EELYTQNLLQ RQDENTPSVD ISMGPASGFT INDYTPANAI EQQYECENTI VWTESHLPSE
961 VISSAELPSV LPDSAGKGSE YLLEQSSLAC NAECVMLQNV SKESFERTIN IAKGNSSLGM
1021 TVSANKDGLG MIVRSIIHGG AISRDGRIAI GDCILSINEE STISVTNAQA RAMLRRHSLI
1081 GPDIKITYVP AEHLEEFKIS LGQQSGRVMA LDIFSSYTGR DIPELPEREE GEGEESELQN
1141 TAYSNWNQPR RVELWREPSK SLGISIVGGR GMGSRLSNGE VMRGIFIKHV LEDSPAGKNG
1201 TLKPGDRIVE VDGMDLRDAS HEQAVEAIRK AGNPVVFMVQ SIINRPRKSP LPSLLHNLYP
1261 KYNFSSTNPF ADSLQINADK APSQSESEPE KAPLCSVPPP PPSAFAEMGS DHTQSSASKI
1321 SQDVDKEDEF GYSWKNIRER YGTLTGELHM IELEKGHSGL GLSLAGNKDR SRMSVFIVGI
1381 DPNGAAGKDG RLQIADELLE INGQILYGRS HQNASSIIKC APSKVKIIFI RNKDAVNQMA
1441 VCPGNAVEPL PSNSENLQNK ETEPTVTTSD AAVDLSSFKN VQHLELPKDQ GGLGIAISEE
1501 DTLSGVIIKS LTEHGVAATD GRLKVGDQIL AVDDEIVVGY PIEKFISLLK TAKMTVKLTI
1561 HAENPDSQAV PSAAGAASGE KKNSSQSLMV PQSGSPEPES IRNTSRSSTP AIFASDPATC
1621 PIIPGCETTI EISKGRTGLG LSIVGGSDTL LGAIIIHEVY EEGAACKDGR LWAGDQILEV
1681 NGIDLRKATH DEAINVLRQT PQRVRLTLYR DEAPYKEEEV CDTLTIELQK KPGKGLGLSI
1741 VGKRNDTGVF VSDIVKGGIA DADGRLMQGD QILMVNGEDV RNATQEAVAA LLKCSLGTVT
1801 LEVGRIKAGP FHSERRPSQS SQVSEGSLSS FTFPLSGSST SESLESSSKK NALASEIQGL
1861 RTVEMKKGPT DSLGISIAGG VGSPLGDVPI FIAMMHPTGV AAQTQKLRVG DRIVTICGTS
1921 TEGMTHTQAV NLLKNASGSI EMQVVAGGDV SVVTGHQQEP ASSSLSFTGL TSSSIFQDDL
1981 GPPQCKSITL ERGPDGLGFS IVGGYGSPHG DLPIYVKTVF AKGAASEDGR LKRGDQIIAV
2041 NGQSLEGVTH EEAVAILKRT KGTVTLMVLSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MPDZ 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.43
- Highest tissue expression
- 80 nTPM
Expression across tissuesHPA
Tissue
- liver: 80 nTPM
- retina: 31 nTPM
- tongue: 29 nTPM
- heart muscle: 28 nTPM
- blood vessel: 27 nTPM
- placenta: 23 nTPM
Single-cell type
- ependymal cells: 596 nCPM
- retinal pigment epithelial cells: 401 nCPM
- choroid plexus epithelial cells: 399 nCPM
- lactotrophs: 336 nCPM
- thyrotrophs: 319 nCPM
- pituicytes/fscs: 315 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
- white matter: 94 nTPM
- midbrain: 72 nTPM
- basal ganglia: 71 nTPM
- choroid plexus: 70 nTPM
- spinal cord: 70 nTPM
- medulla oblongata: 68 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MPDZ.
Disease | AllUniProt
Conditions MPDZ is implicated in, by any mechanism.
- Hydrocephalus, congenital, 2, with or without brain or eye anomalies (HYC2) MIM:615219
Disease | GeneticClinVar
134 pathogenic / likely-pathogenic of 2,014 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hydrocephalus, nonsyndromic, autosomal recessive 2
- MPDZ-related disorder
- Inborn genetic diseases
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)
- 0.89
- gnomAD pLI
- 0
- gnomAD missense Z
- -2.98
- DepMap mean gene effect
- 0.09
- 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
- PDZ domain
- L27 domain
- L27-2
- PDZ superfamily
- L27 domain superfamily
- PDZ domain-containing scaffold protein
- PDZ domain
- L27_2
- Multiple PDZ domain protein, unstructured region
- Unstructured region 10 on multiple PDZ protein
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MPDZ 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 MPDZ as an antibody target. Whether an autoantibody or antibody against MPDZ could matter depends on whether native MPDZ is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MPDZ is annotated at the cell surface, where native MPDZ is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label MPDZ as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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