• Gene id: 266727

Gene Summary

• Gene Symbol: MDGA1   Gene   UCSC   Ensembl
• Aliases: GPIM, MAMDC3
• Gene name: MAM domain containing glycosylphosphatidylinositol anchor 1
• Alternate names: MAM domain-containing glycosylphosphatidylinositol anchor protein 1, GPI and MAM protein, MAM domain-containing protein 3, glycosylphosphatidylinositol-MAM,
• Gene location: 6p21.2 (37697882: 37630678)     Exons: 18     NC_000006.12
• Gene summary(Entrez): This gene encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that is expressed predominantly in the developing nervous system. In addition to possessing several cell adhesion molecule-like domains, the mature protein has six I
• OMIM: 609626

Protein Summary

• Protein general information: Q8NFP4  
  • Name: MAM domain containing glycosylphosphatidylinositol anchor protein 1 (GPI and MAM protein) (GPIM) (Glycosylphosphatidylinositol MAM) (MAM domain containing protein 3)
  • Length: 955  
  • Mass: 105790
  • Tissue specificity: Has been found in brain, heart, skeletal muscle and kidney. Found to be overexpressed in tumor tissues.
• Sequence:

  MEVTCLLLLALIPFHCRGQGVYAPAQAQIVHAGQACVVKEDNISERVYTIREGDTLMLQCLVTGHPRPQVRWTKT
  AGSASDKFQETSVFNETLRIERIARTQGGRYYCKAENGVGVPAIKSIRVDVQYLDEPMLTVHQTVSDVRGNFYQE
  KTVFLRCTVNSNPPARFIWKRGSDTLSHSQDNGVDIYEPLYTQGETKVLKLKNLRPQDYASYTCQVSVRNVCGIP
  DKAITFRLTNTTAPPALKLSVNETLVVNPGENVTVQCLLTGGDPLPQLQWSHGPGPLPLGALAQGGTLSIPSVQA
  RDSGYYNCTATNNVGNPAKKTVNLLVRSMKNATFQITPDVIKESENIQLGQDLKLSCHVDAVPQEKVTYQWFKNG
  KPARMSKRLLVTRNDPELPAVTSSLELIDLHFSDYGTYLCMASFPGAPVPDLSVEVNISSETVPPTISVPKGRAV
  VTVREGSPAELQCEVRGKPRPPVLWSRVDKEAALLPSGLPLEETPDGKLRLERVSRDMSGTYRCQTARYNGFNVR
  PREAQVQLNVQFPPEVEPSSQDVRQALGRPVLLRCSLLRGSPQRIASAVWRFKGQLLPPPPVVPAAAEAPDHAEL
  RLDAVTRDSSGSYECSVSNDVGSAACLFQVSAKAYSPEFYFDTPNPTRSHKLSKNYSYVLQWTQREPDAVDPVLN
  YRLSIRQLNQHNAVVKAIPVRRVEKGQLLEYILTDLRVPHSYEVRLTPYTTFGAGDMASRIIHYTEPINSPNLSD
  NTCHFEDEKICGYTQDLTDNFDWTRQNALTQNPKRSPNTGPPTDISGTPEGYYMFIETSRPRELGDRARLVSPLY
  NASAKFYCVSFFYHMYGKHIGSLNLLVRSRNKGALDTHAWSLSGNKGNVWQQAHVPISPSGPFQIIFEGVRGPGY
  LGDIAIDDVTLKKGECPRKQTDPNKVVVMPGSGAPCQSSPQLWGPMAIFLLALQR

• Structural information:
  • Protein Domains: (24..12-)
    (/note="Ig-like-1)
    (132..23-)
    (/note="Ig-like-2)
    (240..32-)
    (/note="Ig-like-3)
    (338..43-)
    (/note="Ig-like-4)
    (440..53-)
    (/note="Ig-like-5)
    (539..63-)
    (/note="Ig-like-6)
    (643..74-)
    (/note="Fibronect-)
  • Interpro: IPR013320  IPR003961  IPR036116  IPR007110  IPR036179   IPR013783  IPR003599  IPR003598  IPR000998  
  • Prosite: PS50853 PS50835 PS50060
  • CDD: cd00063 cd06263
  • PDB: 5V5V 5V5W 5XEQ
  • PDBsum: 5V5V 5V5W 5XEQ
  • STRING: ENSP00000402584
• Other Databases: GeneCards:  MDGA1  Malacards:  MDGA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007420	brain development	ISS	biological process
GO:0046658	anchored component of plasma membrane	ISS	cellular component
GO:0021527	spinal cord association neuron differentiation	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0046658	anchored component of plasma membrane	IDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0001764	neuron migration	ISS	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0099179	regulation of synaptic membrane adhesion	IMP	biological process
GO:1905606	regulation of presynapse assembly	IMP	biological process
GO:0099179	regulation of synaptic membrane adhesion	IDA	biological process
GO:0099179	regulation of synaptic membrane adhesion	IDA	biological process
GO:1905606	regulation of presynapse assembly	IDA	biological process
GO:1905606	regulation of presynapse assembly	IDA	biological process
GO:0098982	GABA-ergic synapse	IMP	cellular component
GO:0098982	GABA-ergic synapse	IDA	cellular component
GO:0098982	GABA-ergic synapse	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq