Version 5.4
Homo sapiens Gene: AP4B1
Summary
InnateDB Gene IDBG-101239.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AP4B1
Gene Name adaptor-related protein complex 4, beta 1 subunit
Synonyms BETA-4; CPSQ5; SPG47
Species Homo sapiens
Ensembl Gene ENSG00000134262
Encoded Proteins
IDBP-101241
adaptor-related protein complex 4, beta 1 subunit
IDBP-101243
adaptor-related protein complex 4, beta 1 subunit
IDBP-101245
adaptor-related protein complex 4, beta 1 subunit
IDBP-101247
adaptor-related protein complex 4, beta 1 subunit
IDBP-101253
adaptor-related protein complex 4, beta 1 subunit
IDBP-387811
adaptor-related protein complex 4, beta 1 subunit
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:113894748-113905201
Strand Reverse strand
Band p13.2
Transcripts
ENST00000369571 ENSP00000358584
ENST00000369569 ENSP00000358582
ENST00000369567 ENSP00000358580
ENST00000256658 ENSP00000256658
ENST00000369564 ENSP00000358577
ENST00000432415 ENSP00000393622
ENST00000479285
ENST00000462591
ENST00000479801
ENST00000484201
ENST00000460653
ENST00000489499
ENST00000489092
ENST00000472122
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:0005802 trans-Golgi network
GO:0005905 coated pit
GO:0030117 membrane coat
GO:0030131 clathrin adaptor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000032952
View Gene Order
ENSBTAG00000003614
Not yet available
Pathways
NETPATH
REACTOME
REACT_19400
Golgi Associated Vesicle Biogenesis pathway
REACT_19187
Clathrin derived vesicle budding pathway
REACT_11235
trans-Golgi Network Vesicle Budding pathway
REACT_11123
Membrane Trafficking pathway
KEGG
hsa04142
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.515048
RefSeq NM_001253852 NM_001253853 NM_006594 XM_005270382
HUGO
OMIM
CCDS CCDS865
HPRD 06259
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca