AP4B1
Sign in to saveAlso known as BETA-4, CPSQ5, SPG47, adaptor related protein complex 4 beta 1 subunit, adaptor related protein complex 4 subunit beta 1
AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.
In the Vinony graph
Vinony's link graph records 86 inbound references to AP4B1, and connects out to PubMed, human chromosome 1 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 1.
Vinony links it to 6 Wikipedia language editions.
Gene data
AP4B1- Name
- adaptor related protein complex 4 subunit beta 1
- Type
- protein-coding
- Position
- 113,894,194–113,905,722 (−)
- Aliases
- BETA-4, CPSQ5, SPG47
- Ensembl
- ENSG00000134262
- RefSeq RNA
- NM_001253852.3, NM_001253853.3, NM_001308312.2, NM_001437822.1, NM_001438373.1
- RefSeq protein
- NP_001240781.1, NP_001240782.1, NP_001295241.1, NP_001424751.1, NP_001425302.1
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 Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
adaptor related protein complex 4 subunit beta 1
- Symbol
- AP4B1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:113,894,194-113,905,722
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 38203
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/10717
- genomic end
- 114447823
- genomic start
- 113894194
- chromosome
- human chromosome 1
- cytogenetic location
- 1p13.2
via Wikidata · CC0
~1 min read
Encyclopedic overview
6 sectionsContents
- Function
- Interactions
- Clinical relevance
- References
- External links
- Further reading
AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.
== Function ==
Excerpted from Wikipedia’s “AP4B1” article, available under the CC BY-SA 4.0 licence.