Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10717
Gene name Gene Name - the full gene name approved by the HGNC.
Adaptor related protein complex 4 subunit beta 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AP4B1
Synonyms (NCBI Gene) Gene synonyms aliases
BETA-4, CPSQ5, SPG47
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SPG47
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1553259463 GACAT>- Pathogenic Intron variant, inframe indel, 5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT046304 hsa-miR-23b-3p CLASH 23622248
MIRT046304 hsa-miR-23b-3p CLASH 23622248
MIRT043998 hsa-miR-378a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 22472443, 25416956, 26542808, 26756312, 31515488, 32296183
GO:0005802 Component Trans-Golgi network IDA 10066790
GO:0005829 Component Cytosol IDA 10066790
GO:0006605 Process Protein targeting IC 10066790
GO:0008104 Process Protein localization IC 10066790
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607245 572 ENSG00000134262
Protein
UniProt ID Q9Y6B7
Protein name AP-4 complex subunit beta-1 (AP-4 adaptor complex subunit beta) (Adaptor-related protein complex 4 subunit beta-1) (Beta subunit of AP-4) (Beta4-adaptin)
Protein function Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (
PDB 2MJ7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01602 Adaptin_N 6 525 Adaptin N terminal region Family
PF09066 B2-adapt-app_C 621 731 Beta2-adaptin appendage, C-terminal sub-domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10436028}.
Sequence
Sequence length 739
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Lysosome   Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
29059683
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Severe intellectual disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Unknown
Disease term Disease name Evidence References Source
Spastic Paraplegia hereditary spastic paraplegia 47 GenCC
Diabetes Diabetes GWAS
Alopecia Areata Alopecia Areata GWAS
Vitiligo Vitiligo GWAS
Associations from Text Mining
Disease Name Relationship Type References
AIDS Related Complex Associate 32166732
Arthritis Rheumatoid Associate 33482886
Bovine Respiratory Disease Complex Associate 31915823
Cerebral Hemorrhage Associate 32166732
Cerebral Palsy Associate 21620353
Cerebral Ventricle Neoplasms Associate 32171285
Developmental Disabilities Associate 32166732, 32171285
Diabetes Mellitus Type 1 Associate 34521982
Epilepsy Associate 32166732
Intellectual Disability Associate 21620353, 24781758, 32166732