Homo sapiens Protein: AP4B1
Summary
InnateDB Protein IDBP-101247.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AP4B1
Protein Name adaptor-related protein complex 4, beta 1 subunit
Synonyms BETA-4; CPSQ5; SPG47;
Species Homo sapiens
Ensembl Protein ENSP00000256658
InnateDB Gene IDBG-101239 (AP4B1)
Protein Structure
UniProt Annotation
Function 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.
Subcellular Localization Golgi apparatus, trans-Golgi network {ECO:0000269PubMed:22472443}. Membrane, coated pit {ECO:0000250}. Note=Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells.
Disease Associations Cerebral palsy, spastic quadriplegic 5 (CPSQ5) [MIM:614066]: A neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. {ECO:0000269PubMed:21620353}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
Experimentally validated
Total 15 [view]
Protein-Protein 9 [view]
Protein-DNA 6 [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:0005488 binding
GO:0008565 protein transporter activity
Biological Process
GO:0006886 intracellular protein transport
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
Cellular Component
GO:0005905 coated pit
GO:0030117 membrane coat
GO:0030131 clathrin adaptor complex
Protein Structure and Domains
PDB ID
InterPro IPR002553 Clathrin/coatomer adaptor, adaptin-like, N-terminal
IPR009028 Coatomer/calthrin adaptor appendage, C-terminal subdomain
IPR015151 Beta-adaptin appendage, C-terminal subdomain
IPR016024 Armadillo-type fold
IPR016342 AP-1, 2,4 complex subunit beta
PFAM PF01602
PF09066
PRINTS
PIRSF PIRSF002291
SMART SM01020
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y6B7
PhosphoSite PhosphoSite-Q9Y6B7
TrEMBL B1ALD2
UniProt Splice Variant
Entrez Gene 10717
UniGene Hs.515048
RefSeq NP_006585
HUGO HGNC:572
OMIM 607245
CCDS CCDS865
HPRD 06259
IMGT
EMBL AB209817 AF092094 AL137856 BC014146 CH471122
GenPept AAD20448 AAH14146 BAD93054 CAI19072 EAW56578 EAW56579 EAW56580 EAW56581