• Gene id: 55745

Gene Summary

• Gene Symbol: AP5M1   Gene   UCSC   Ensembl
• Aliases: C14orf108, MUDENG, Mu5, MuD
• Gene name: adaptor related protein complex 5 subunit mu 1
• Alternate names: AP-5 complex subunit mu-1, AP-5 complex subunit mu, MHD domain-containing death-inducing protein, MU-2/AP1M2 domain containing, death-inducing, Mu-2 related death-inducing, adapter-related protein complex 5 mu subunit, adapter-related protein complex 5 subunit ,
• Gene location: 14q22.3 (57268914: 57298741)     Exons: 9     NC_000014.9
• OMIM: 614368

Protein Summary

• Protein general information: Q9H0R1  
  • Name: AP 5 complex subunit mu 1 (Adaptor related protein complex 5 subunit mu 1) (Mu5) (Mu 2 related death inducing protein) (MuD) (Putative HIV 1 infection related protein)
  • Length: 490  
  • Mass: 54767
  • Tissue specificity: Expressed in various tumor cell lines including Jurkat, Hep-G2 and HeLa. {ECO
• Sequence:

  MAQRAVWLISHEPGTPLCGTVRFSRRYPTVEKRARVFNGASYVPVPEDGPFLKALLFELRLLDDDKDFVESRDSC
  SRINKTSIYGLLIGGEELWPVVAFLKNDMIYACVPLVEQTLSPRPPLISVSGVSQGFEFLFGIQDFLYSGQKNDS
  ELNTKLSQLPDLLLQACPFGTLLDANLQNSLDNTNFASVTQPQKQPAWKTGTYKGKPQVSISITEKVKSMQYDKQ
  GIADTWQVVGTVTCKCDLEGIMPNVTISLSLPTNGSPLQDILVHPCVTSLDSAILTSSSIDAMDDSAFSGPYKFP
  FTPPLESFNLCFYTSQVPVPPILGFYQMKEEEVQLRITINLKLHESVKNNFEFCEAHIPFYNRGPITHLEYKTSF
  GQLEVFREKSLLIWIIGQKFPKSMEISLSGTVTFGAKSHEKQPFDPICTGETAYLKLHFRILDYTLTGCYADQHS
  VQVFASGKPKISAHRKLISSDYYIWNSKAPAPVTYGSLLL

• Structural information:
  • Protein Domains: (206..47-)
    (/note="MHD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00404"-)
  • Interpro: IPR036168  IPR039591  IPR028565  
  • Prosite: PS51072
  • DIP: 60180
  • STRING: ENSP00000261558
• Other Databases: GeneCards:  AP5M1  Malacards:  AP5M1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005770	late endosome	IBA	cellular component
GO:0016197	endosomal transport	IBA	biological process
GO:0030119	AP-type membrane coat adaptor complex	IBA	cellular component
GO:0005764	lysosome	IBA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0030119	AP-type membrane coat adaptor complex	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0016197	endosomal transport	IMP	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component

Diseases

Associated diseases	References
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)