• Gene id: 9179

Gene Summary

• Gene Symbol: AP4M1   Gene   UCSC   Ensembl
• Aliases: CPSQ3, MU-4, MU-ARP2, SPG50
• Gene name: adaptor related protein complex 4 subunit mu 1
• Alternate names: AP-4 complex subunit mu-1, AP-4 adaptor complex mu subunit, adapter-related protein complex 4 mu-1 subunit, adapter-related protein complex 4 subunit mu-1, adaptor related protein complex 4 mu 1 subunit, adaptor-related protein complex AP-4 mu4 subunit, mu subu,
• Gene location: 7q22.1 (100101412: 100109038)     Exons: 17     NC_000007.14
• Gene summary(Entrez): This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from t
• OMIM: 612200

Protein Summary

• Protein general information: O00189  
  • Name: AP 4 complex subunit mu 1 (AP 4 adaptor complex mu subunit) (Adaptor related protein complex 4 subunit mu 1) (Mu subunit of AP 4) (Mu adaptin related protein 2) (mu ARP2) (Mu4 adaptin) (mu4)
  • Length: 453  
  • Mass: 49977
  • Tissue specificity: Ubiquitous. Highly expressed in testis and lowly expressed in brain and lung. {ECO
• Sequence:

  MISQFFILSSKGDPLIYKDFRGDSGGRDVAELFYRKLTGLPGDESPVVMHHHGRHFIHIRHSGLYLVVTTSENVS
  PFSLLELLSRLATLLGDYCGSLGEGTISRNVALVYELLDEVLDYGYVQTTSTEMLRNFIQTEAVVSKPFSLFDLS
  SVGLFGAETQQSKVAPSSAASRPVLSSRSDQSQKNEVFLDVVERLSVLIASNGSLLKVDVQGEIRLKSFLPSGSE
  MRIGLTEEFCVGKSELRGYGPGIRVDEVSFHSSVNLDEFESHRILRLQPPQGELTVMRYQLSDDLPSPLPFRLFP
  SVQWDRGSGRLQVYLKLRCDLLSKSQALNVRLHLPLPRGVVSLSQELSSPEQKAELAEGALRWDLPRVQGGSQLS
  GLFQMDVPGPPGPPSHGLSTSASPLGLGPASLSFELPRHTCSGLQVRFLRLAFRPCGNANPHKWVRHLSHSDAYV
  IRI

• Structural information:
  • Protein Domains: (184..45-)
    (/note="MHD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00404"-)
  • Interpro: IPR036168  IPR022775  IPR001392  IPR018240  IPR011012   IPR028565  
  • Prosite: PS00991 PS51072
  • PDB: 3L81 4MDR
  • PDBsum: 3L81 4MDR
  • STRING: ENSP00000352603
• Other Databases: GeneCards:  AP4M1  Malacards:  AP4M1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090160	Golgi to lysosome transport	IBA	biological process
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0006605	protein targeting	IBA	biological process
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0006605	protein targeting	IDA	biological process
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0030124	AP-4 adaptor complex	IDA	cellular component
GO:0030124	AP-4 adaptor complex	IDA	cellular component
GO:0019904	protein domain specific binding	IDA	molecular function
GO:0090160	Golgi to lysosome transport	IDA	biological process
GO:0006622	protein targeting to lysosome	IDA	biological process
GO:0019904	protein domain specific binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005769	early endosome	ISS	cellular component
GO:1903361	protein localization to basolateral plasma membrane	ISS	biological process
GO:0008104	protein localization	ISS	biological process
GO:0006895	Golgi to endosome transport	IMP	biological process
GO:0006886	intracellular protein transport	IMP	biological process
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0030131	clathrin adaptor complex	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0031904	endosome lumen	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	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:0005794	Golgi apparatus	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq