• Gene id: 158056

Gene Summary

• Gene Symbol: MAMDC4   Gene   UCSC   Ensembl
• Aliases: AEGP, EDTB
• Gene name: MAM domain containing 4
• Alternate names: apical endosomal glycoprotein, MAM domain-containing protein 4, apical early endosomal glycoprotein, endotubin,
• Gene location: 9q34.3 (136852345: 136860798)     Exons: 27     NC_000009.12
• OMIM: 104220

Protein Summary

• Protein general information: Q6UXC1  
  • Name: Apical endosomal glycoprotein (MAM domain containing protein 4)
  • Length: 1216  
  • Mass: 131499
• Sequence:

  MPLSSHLLPALVLFLAGSSGWAWVPNHCRSPGQAVCNFVCDCRDCSDEAQCGYHGASPTLGAPFACDFEQDPCGW
  RDISTSGYSWLRDRAGAALEGPGPHSDHTLGTDLGWYMAVGTHRGKEASTAALRSPTLREAASSCKLRLWYHAAS
  GDVAELRVELTHGAETLTLWQSTGPWGPGWQELAVTTGRIRGDFRVTFSATRNATHRGAVALDDLEFWDCGLPTP
  QANCPPGHHHCQNKVCVEPQQLCDGEDNCGDLSDENPLTCGRHIATDFETGLGPWNRSEGWSRNHRAGGPERPSW
  PRRDHSRNSAQGSFLVSVAEPGTPAILSSPEFQASGTSNCSLVFYQYLSGSEAGCLQLFLQTLGPGAPRAPVLLR
  RRRGELGTAWVRDRVDIQSAYPFQILLAGQTGPGGVVGLDDLILSDHCRPVSEVSTLQPLPPGPRAPAPQPLPPS
  SRLQDSCKQGHLACGDLCVPPEQLCDFEEQCAGGEDEQACGTTDFESPEAGGWEDASVGRLQWRRVSAQESQGSS
  AAAAGHFLSLQRAWGQLGAEARVLTPLLGPSGPSCELHLAYYLQSQPRGFLALVVVDNGSRELAWQALSSSAGIW
  KVDKVLLGARRRPFRLEFVGLVDLDGPDQQGAGVDNVTLRDCSPTVTTERDREVSCNFERDTCSWYPGHLSDTHW
  RWVESRGPDHDHTTGQGHFVLLDPTDPLAWGHSAHLLSRPQVPAAPTECLSFWYHLHGPQIGTLRLAMRREGEET
  HLWSRSGTQGNRWHEAWATLSHQPGSHAQYQLLFEGLRDGYHGTMALDDVAVRPGPCWAPNYCSFEDSDCGFSPG
  GQGLWRRQANASGHAAWGPPTDHTTETAQGHYMVVDTSPDALPRGQTASLTSKEHRPLAQPACLTFWYHGSLRSP
  GTLRVYLEERGRHQVLSLSAHGGLAWRLGSMDVQAERAWRVVFEAVAAGVAHSYVALDDLLLQDGPCPQPGSCDF
  ESGLCGWSHLAWPGLGGYSWDWGGGATPSRYPQPPVDHTLGTEAGHFAFFETGVLGPGGRAAWLRSEPLPATPAS
  CLRFWYHMGFPEHFYKGELKVLLHSAQGQLAVWGAGGHRRHQWLEAQVEVASAKEFQIVFEATLGGQPALGPIAL
  DDVEYLAGQHCQQPAPSPGNTAAPGSVPAVVGSALLLLMLLVLLGLGGRRWLQKKGSCPFQSNTEATAPGFDNIL
  FNADGVTLPASVTSDP

• Structural information:
  • Protein Domains: (26..5-)
    A (/note="LDL-receptor-class)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124-)
    (64..22-)
    (/note="MAM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00128-)
    (228..26-)
    A (/note="LDL-receptor-class)
    (/evidence="-)
  • Interpro: IPR013320  IPR036055  IPR023415  IPR002172  IPR000998  
  • Prosite: PS01209 PS50068 PS50060
  • CDD: cd00112 cd06263
  • STRING: ENSP00000319388
• Other Databases: GeneCards:  MAMDC4  Malacards:  MAMDC4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq