| UniProt Protein Function: | AP4B1: Subunit of 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. Defects in AP4B1 are the cause of cerebral palsy spastic quadriplegic type 5 (CPSQ5). CPSQ5 is a neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. Belongs to the adaptor complexes large subunit family.Protein type: Adaptor/scaffoldChromosomal Location of Human Ortholog: 1p13.2Cellular Component: trans-Golgi network; trans-Golgi network membraneMolecular Function: protein binding; transporter activityDisease: Spastic Paraplegia 47, Autosomal Recessive |
| UniProt Protein Details: | |
| NCBI Summary: | This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
| UniProt Code: | Q9Y6B7 |
| NCBI GenInfo Identifier: | 126302520 |
| NCBI Gene ID: | 10717 |
| NCBI Accession: | Q9Y6B7.2 |
| UniProt Secondary Accession: | Q9Y6B7,Q59EJ4, Q96CL6, B7Z4X3 |
| UniProt Related Accession: | Q9Y6B7 |
| Molecular Weight: | 34,403 Da |
| NCBI Full Name: | AP-4 complex subunit beta-1 |
| NCBI Synonym Full Names: | adaptor related protein complex 4 beta 1 subunit |
| NCBI Official Symbol: | AP4B1Â Â |
| NCBI Official Synonym Symbols: | CPSQ5; SPG47; BETA-4Â Â |
| NCBI Protein Information: | AP-4 complex subunit beta-1 |
| UniProt Protein Name: | AP-4 complex subunit beta-1 |
| UniProt Synonym Protein Names: | AP-4 adaptor complex subunit beta; Adaptor-related protein complex 4 subunit beta-1; Beta subunit of AP-4; Beta4-adaptin |
| Protein Family: | AP-4 complex |
| UniProt Gene Name: | AP4B1Â Â |
| UniProt Entry Name: | AP4B1_HUMAN |
