InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AP4M1

Summary

InnateDB Protein

IDBP-383199.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AP4M1

Protein Name

adaptor-related protein complex 4, mu 1 subunit

Synonyms

CPSQ3; MU-4; MU-ARP2; SPG50;

Species

Homo sapiens

Ensembl Protein

ENSP00000412185

InnateDB Gene

IDBG-281654 (AP4M1)

Protein Structure

UniProt Annotation

Function

Component of the AP-4 complex, a novel type of clathrin- or non-clathrin-associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal- lysosomal system. Plays a role in the intracellular trafficking of APP from the trans-Golgi network (TGN) to endosomes, and thereby inhibits amyloidogenic processing of APP. {ECO:0000269PubMed:11139587, ECO:0000269PubMed:20230749}.

Subcellular Localization

Golgi apparatus, trans-Golgi network. Membrane, coated pit. Note=Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells.

Disease Associations

Cerebral palsy, spastic quadriplegic 3 (CPSQ3) [MIM:612936]: A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals present postnatally with early infantile hypotonia, delayed psychomotor development, strabismus, lack of independent walking and severe mental retardation. They develop progressive spasticity of all limbs with generalized hypertonia, hyperreflexia, and extensor plantar responses by the end of the first year of life. Speech is absent or limited. Pseudobulbar signs, such as drooling, stereotypic laughter, and exaggerated jaw jerk, are part of the clinical picture. {ECO:0000269PubMed:19559397}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. Highly expressed in testis and lowly expressed in brain and lung. {ECO:0000269PubMed:10436028, ECO:0000269PubMed:9013859}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.

Experimentally validated
Total	11 [view]
Protein-Protein	8 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005515	protein binding

Biological Process

GO:0006810	transport
GO:0006886	intracellular protein transport
GO:0006895	Golgi to endosome transport
GO:0016192	vesicle-mediated transport

Cellular Component

GO:0000138	Golgi trans cisterna
GO:0005802	trans-Golgi network
GO:0005905	coated pit
GO:0030119	AP-type membrane coat adaptor complex
GO:0030131	clathrin adaptor complex
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR001392 Clathrin adaptor, mu subunit
IPR008968 Clathrin adaptor, mu subunit, C-terminal
IPR011012 Longin-like domain
IPR022775 AP complex, mu/sigma subunit
IPR028565 Mu homology domain

PFAM

PF00928
PF01217

PRINTS

PR00314

PIRSF

PIRSF005992

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt