• Gene id: 8777

Gene Summary

• Gene Symbol: MPDZ   Gene   UCSC   Ensembl
• Aliases: HYC2, MUPP1
• Gene name: multiple PDZ domain crumbs cell polarity complex component
• Alternate names: multiple PDZ domain protein, multi-PDZ domain protein 1,
• Gene location: 9p23 (66830976: 66802877)     Exons: 21     NC_000016.10
• Gene summary(Entrez): 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 en
• OMIM: 603785

Protein Summary

• Protein general information: O75970  
  • Name: Multiple PDZ domain protein (Multi PDZ domain protein 1)
  • Length: 2070  
  • Mass: 221618
  • Tissue specificity: Expressed in heart, brain, placenta, liver, skeletal muscle, kidney and pancreas. {ECO
• Sequence:

  MLEAIDKNRALHAAERLQTKLRERGDVANEDKLSLLKSVLQSPLFSQILSLQTSVQQLKDQVNIATSATSNIEYA
  HVPHLSPAVIPTLQNESFLLSPNNGNLEALTGPGIPHINGKPACDEFDQLIKNMAQGRHVEVFELLKPPSGGLGF
  SVVGLRSENRGELGIFVQEIQEGSVAHRDGRLKETDQILAINGQALDQTITHQQAISILQKAKDTVQLVIARGSL
  PQLVSPIVSRSPSAASTISAHSNPVHWQHMETIELVNDGSGLGFGIIGGKATGVIVKTILPGGVADQHGRLCSGD
  HILKIGDTDLAGMSSEQVAQVLRQCGNRVKLMIARGAIEERTAPTALGITLSSSPTSTPELRVDASTQKGEESET
  FDVELTKNVQGLGITIAGYIGDKKLEPSGIFVKSITKSSAVEHDGRIQIGDQIIAVDGTNLQGFTNQQAVEVLRH
  TGQTVLLTLMRRGMKQEAELMSREDVTKDADLSPVNASIIKENYEKDEDFLSSTRNTNILPTEEEGYPLLSAEIE
  EIEDAQKQEAALLTKWQRIMGINYEIVVAHVSKFSENSGLGISLEATVGHHFIRSVLPEGPVGHSGKLFSGDELL
  EVNGITLLGENHQDVVNILKELPIEVTMVCCRRTVPPTTQSELDSLDLCDIELTEKPHVDLGEFIGSSETEDPVL
  AMTDAGQSTEEVQAPLAMWEAGIQHIELEKGSKGLGFSILDYQDPIDPASTVIIIRSLVPGGIAEKDGRLLPGDR
  LMFVNDVNLENSSLEEAVEALKGAPSGTVRIGVAKPLPLSPEEGYVSAKEDSFLYPPHSCEEAGLADKPLFRADL
  ALVGTNDADLVDESTFESPYSPENDSIYSTQASILSLHGSSCGDGLNYGSSLPSSPPKDVIENSCDPVLDLHMSL
  EELYTQNLLQRQDENTPSVDISMGPASGFTINDYTPANAIEQQYECENTIVWTESHLPSEVISSAELPSVLPDSA
  GKGSEYLLEQSSLACNAECVMLQNVSKESFERTINIAKGNSSLGMTVSANKDGLGMIVRSIIHGGAISRDGRIAI
  GDCILSINEESTISVTNAQARAMLRRHSLIGPDIKITYVPAEHLEEFKISLGQQSGRVMALDIFSSYTGRDIPEL
  PEREEGEGEESELQNTAYSNWNQPRRVELWREPSKSLGISIVGGRGMGSRLSNGEVMRGIFIKHVLEDSPAGKNG
  TLKPGDRIVEVDGMDLRDASHEQAVEAIRKAGNPVVFMVQSIINRPRKSPLPSLLHNLYPKYNFSSTNPFADSLQ
  INADKAPSQSESEPEKAPLCSVPPPPPSAFAEMGSDHTQSSASKISQDVDKEDEFGYSWKNIRERYGTLTGELHM
  IELEKGHSGLGLSLAGNKDRSRMSVFIVGIDPNGAAGKDGRLQIADELLEINGQILYGRSHQNASSIIKCAPSKV
  KIIFIRNKDAVNQMAVCPGNAVEPLPSNSENLQNKETEPTVTTSDAAVDLSSFKNVQHLELPKDQGGLGIAISEE
  DTLSGVIIKSLTEHGVAATDGRLKVGDQILAVDDEIVVGYPIEKFISLLKTAKMTVKLTIHAENPDSQAVPSAAG
  AASGEKKNSSQSLMVPQSGSPEPESIRNTSRSSTPAIFASDPATCPIIPGCETTIEISKGRTGLGLSIVGGSDTL
  LGAIIIHEVYEEGAACKDGRLWAGDQILEVNGIDLRKATHDEAINVLRQTPQRVRLTLYRDEAPYKEEEVCDTLT
  IELQKKPGKGLGLSIVGKRNDTGVFVSDIVKGGIADADGRLMQGDQILMVNGEDVRNATQEAVAALLKCSLGTVT
  LEVGRIKAGPFHSERRPSQSSQVSEGSLSSFTFPLSGSSTSESLESSSKKNALASEIQGLRTVEMKKGPTDSLGI
  SIAGGVGSPLGDVPIFIAMMHPTGVAAQTQKLRVGDRIVTICGTSTEGMTHTQAVNLLKNASGSIEMQVVAGGDV
  SVVTGHQQEPASSSLSFTGLTSSSIFQDDLGPPQCKSITLERGPDGLGFSIVGGYGSPHGDLPIYVKTVFAKGAA
  SEDGRLKRGDQIIAVNGQSLEGVTHEEAVAILKRTKGTVTLMVLS

• Structural information:
  • Protein Domains: (1..6-)
    (/note="L27-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00365-)
    (137..22-)
    (/note="PDZ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (257..33-)
    (/note="PDZ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (3-)
  • Interpro: IPR015132  IPR004172  IPR036892  IPR032078  IPR001478   IPR036034  
  • Prosite: PS51022 PS50106
  • PDB: 2FCF 2FNE 2IWN 2IWO 2IWP 2IWQ 2O2T 2OPG 2QG1
  • PDBsum: 2FCF 2FNE 2IWN 2IWO 2IWP 2IWQ 2O2T 2OPG 2QG1
  • STRING: ENSP00000439807
• Other Databases: GeneCards:  MPDZ  Malacards:  MPDZ

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042995	cell projection	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0043220	Schmidt-Lanterman incisure	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016327	apicolateral plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04530	Tight junction

Diseases

Associated diseases	References
Congenital hydrocephalus	KEGG:H01677
Congenital hydrocephalus	KEGG:H01677
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)