AP4B1 (adaptor related protein complex 4 subunit beta 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 22472443, 25416956, 26542808, 26756312, 31515488, 32073997, 32296183, 33961781
GO:0005794 Component Golgi apparatus IEA
GO:0005802 Component Trans-Golgi network IDA 10066790
GO:0005802 Component Trans-Golgi network IEA
GO:0005802 Component Trans-Golgi network NAS 10436028
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607245 572 ENSG00000134262
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Lysosome   Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary spastic paraplegia Hereditary spastic paraplegia, Hereditary spastic paraplegia 47 rs776976178, rs1571563769, rs2101027843, rs1553257236, rs797045244, rs142209254, rs1553259463, rs879255396, rs374894037, rs587779388, rs529495094, rs587783179 N/A
Mental retardation intellectual disability rs587779388 N/A
Spastic Paraplegia spastic paraplegia rs587783179, rs776976178, rs1571563769, rs142209254, rs797045244, rs879255397, rs1553259463, rs879255396, rs1060499756, rs374894037, rs1060499771, rs529495094, rs587779388 N/A
Show/Hide Unknown Diseases (13)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alopecia Areata Alopecia areata N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Carcinoma Basal cell carcinoma N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Show/Hide Text Mining Associations (19)
Associations from Text Mining Disease associations identified through Pubtator
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