• Gene id: 9223

Gene Summary

• Gene Symbol: MAGI1   Gene   UCSC   Ensembl
• Aliases: AIP-3, AIP3, BAIAP1, BAP-1, BAP1, MAGI-1, MAGI-1b, Magi1d, TNRC19, WWP3
• Gene name: membrane associated guanylate kinase, WW and PDZ domain containing 1
• Alternate names: membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1, BAI1-associated protein 1, WW domain-containing protein 3, atrophin-1-interacting protein 3, membrane-associated guanylate kinase inverted 1, trinucleotide repeat-containing gene 19 ,
• Gene location: 3p14.1 (66038917: 65353525)     Exons: 25     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell con
• OMIM: 602625

Protein Summary

• Protein general information: Q96QZ7  
  • Name: Membrane associated guanylate kinase, WW and PDZ domain containing protein 1 (Atrophin 1 interacting protein 3) (AIP 3) (BAI1 associated protein 1) (BAP 1) (Membrane associated guanylate kinase inverted 1) (MAGI 1) (Trinucleotide repeat containing gene 19
  • Length: 1491  
  • Mass: 164581
  • Tissue specificity: Widely expressed with the exception of skeletal muscle. Isoform 1, isoform 2 and isoform 6 are highly expressed in colon, kidney, lung, liver, and pancreas. Isoform 5 is predominantly expressed in brain and heart. Isoform 3 and isoform
• Sequence:

  MSKVIQKKNHWTSRVHECTVKRGPQGELGVTVLGGAEHGEFPYVGAVAAVEAAGLPGGGEGPRLGEGELLLEVQG
  VRVSGLPRYDVLGVIDSCKEAVTFKAVRQGGRLNKDLRHFLNQRFQKGSPDHELQQTIRDNLYRHAVPCTTRSPR
  EGEVPGVDYNFLTVKEFLDLEQSGTLLEVGTYEGNYYGTPKPPSQPVSGKVITTDALHSLQSGSKQSTPKRTKSY
  NDMQNAGIVHAENEEEDDVPEMNSSFTADSGEQEEHTLQETALPPVNSSIIAAPITDPSQKFPQYLPLSAEDNLG
  PLPENWEMAYTENGEVYFIDHNTKTTSWLDPRCLNKQQKPLEECEDDEGVHTEELDSELELPAGWEKIEDPVYGI
  YYVDHINRKTQYENPVLEAKRKKQLEQQQQQQQQQQQQQQQQQQQQTEEWTEDHSALVPPVIPNHPPSNPEPARE
  VPLQGKPFFTRNPSELKGKFIHTKLRKSSRGFGFTVVGGDEPDEFLQIKSLVLDGPAALDGKMETGDVIVSVNDT
  CVLGHTHAQVVKIFQSIPIGASVDLELCRGYPLPFDPDDPNTSLVTSVAILDKEPIIVNGQETYDSPASHSSKTG
  KVNGMKDARPSSPADVASNSSHGYPNDTVSLASSIATQPELITVHIVKGPMGFGFTIADSPGGGGQRVKQIVDSP
  RCRGLKEGDLIVEVNKKNVQALTHNQVVDMLVECPKGSEVTLLVQRGGLPVPKKSPKSQPLERKDSQNSSQHSVS
  SHRSLHTASPSHSTQVLPEFPPAEAQAPDQTDSSGQKKPDPFKIWAQSRSMYENRPMSPSPASGLSKGEREREIN
  STNFGECPIPDYQEQDIFLWRKETGFGFRILGGNEPGEPIYIGHIVPLGAADTDGRLRSGDELICVDGTPVIGKS
  HQLVVQLMQQAAKQGHVNLTVRRKVVFAVPKTENEVPSPASSHHSSNQPASLTEEKRTPQGSQNSLNTVSSGSGS
  TSGIGSGGGGGSGVVSTVVQPYDVEIRRGENEGFGFVIVSSVSRPEAGTTFAGNACVAMPHKIGRIIEGSPADRC
  GKLKVGDRILAVNGCSITNKSHSDIVNLIKEAGNTVTLRIIPGDESSNATLLTNAEKIATITTTHTPSQQGTQET
  RNTTKPKQESQFEFKAPQATQEQDFYTVELERGAKGFGFSLRGGREYNMDLYVLRLAEDGPAERCGKMRIGDEIL
  EINGETTKNMKHSRAIELIKNGGRRVRLFLKRGDGSVPEYDPSSDRHGPATGPQGVPEVRAGPDRRQHPSLESSY
  PPDLHKSSPHGEKRAHARDPKGSREYSRQPNEHHTWNGTSRKPDSGACRPKDRAPEGRRDAQAERAAAANGPKRR
  SPEKRREGTRSADNTLERREKHEKRRDVSPERRRERSPTRRRDGSPSRRRRSLERLLEQRRSPERRRGGSPERRA
  KSTDRRRARSPERRRERSLDKRNREDRASHREREEANLKQDAGRSSRHPPEQRRRPYKECSTDLSI

• Structural information:
  • Protein Domains: (17..10-)
    (/note="PDZ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (96..28-)
    (/note="Guanylate-kinase-like)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00100-)
    (300..33-)
    (/note="WW-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:P-)
  • Interpro: IPR008145  IPR008144  IPR020590  IPR030033  IPR027417   IPR001478  IPR036034  IPR001202  IPR036020  
  • Prosite: PS00856 PS50052 PS50106 PS01159 PS50020
  • CDD: cd00201
  • PDB: 1WBP 2KPK 2KPL 2Q9V 2R4H 2YSD 2YSE 2ZAJ 3BPU 5N7D 5N7F 5N7G
  • PDBsum: 1WBP 2KPK 2KPL 2Q9V 2R4H 2YSD 2YSE 2ZAJ 3BPU 5N7D 5N7F 5N7G
  • STRING: ENSP00000385450
• Other Databases: GeneCards:  MAGI1  Malacards:  MAGI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071944	cell periphery	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0022409	positive regulation of cell-cell adhesion	IDA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0007165	signal transduction	IBA	biological process
GO:0005911	cell-cell junction	IBA	cellular component
GO:0005912	adherens junction	ISS	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0060090	molecular adaptor activity	IEA	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0008022	protein C-terminus binding	TAS	molecular function
GO:0065003	protein-containing complex assembly	NAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0005911	cell-cell junction	TAS	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:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0042995	cell projection	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051393	alpha-actinin binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04015	Rap1 signaling pathway
hsa04530	Tight junction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq