• Gene id: 51678

Gene Summary

• Gene Symbol: MPP6   Gene   UCSC   Ensembl
• Aliases: PALS2, VAM-1, VAM1, p55T
• Gene name: membrane palmitoylated protein 6
• Alternate names: MAGUK p55 subfamily member 6, MAGUK protein p55T, VELI-associated MAGUK 1, membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6), protein associated with Lin7 2,
• Gene location: 7p15.3 (109493605: 109500440)     Exons: 5     NC_000001.11
• Gene summary(Entrez): Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling protei
• OMIM: 606959

Protein Summary

• Protein general information: Q9NZW5  
  • Name: MAGUK p55 subfamily member 6 (Veli associated MAGUK 1) (VAM 1)
  • Length: 540  
  • Mass: 61117
  • Tissue specificity: Abundant in testis, brain, and kidney with lower levels detectable in other tissues.
• Sequence:

  MQQVLENLTELPSSTGAEEIDLIFLKGIMENPIVKSLAKAHERLEDSKLEAVSDNNLELVNEILEDITPLINVDE
  NVAELVGILKEPHFQSLLEAHDIVASKCYDSPPSSPEMNNSSINNQLLPVDAIRILGIHKRAGEPLGVTFRVENN
  DLVIARILHGGMIDRQGLLHVGDIIKEVNGHEVGNNPKELQELLKNISGSVTLKILPSYRDTITPQQVFVKCHFD
  YNPYNDNLIPCKEAGLKFSKGEILQIVNREDPNWWQASHVKEGGSAGLIPSQFLEEKRKAFVRRDWDNSGPFCGT
  ISSKKKKKMMYLTTRNAEFDRHEIQIYEEVAKMPPFQRKTLVLIGAQGVGRRSLKNRFIVLNPTRFGTTVPFTSR
  KPREDEKDGQAYKFVSRSEMEADIKAGKYLEHGEYEGNLYGTKIDSILEVVQTGRTCILDVNPQALKVLRTSEFM
  PYVVFIAAPELETLRAMHKAVVDAGITTKLLTDSDLKKTVDESARIQRAYNHYFDLIIINDNLDKAFEKLQTAIE
  KLRMEPQWVPISWVY

• Structural information:
  • Protein Domains: (1..4-)
    (/note="L27-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00365-)
    (49..10-)
    (/note="L27-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00365-)
    (130..20-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (21-)
  • Interpro: IPR008145  IPR008144  IPR020590  IPR014775  IPR004172   IPR036892  IPR035603  IPR027417  IPR001478  IPR036034  IPR036028  IPR001452  
  • Prosite: PS00856 PS50052 PS51022 PS50106 PS50002
  • CDD: cd12038
  • STRING: ENSP00000222644
• Other Databases: GeneCards:  MPP6  Malacards:  MPP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	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:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	NAS	cellular component
GO:0065003	protein-containing complex assembly	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray