AP5B1 (adaptor related protein complex 5 subunit beta 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
91056
Gene name Gene Name - the full gene name approved by the HGNC.
Adaptor related protein complex 5 subunit beta 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AP5B1
Synonyms (NCBI Gene) Gene synonyms aliases
AP-5, PP1030
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(92)
miRTarBase ID miRNA Experiments Reference
MIRT617481 hsa-miR-148a-3p HITS-CLIP 23824327
MIRT617480 hsa-miR-148b-3p HITS-CLIP 23824327
MIRT617479 hsa-miR-152-3p HITS-CLIP 23824327
MIRT617478 hsa-miR-5196-3p HITS-CLIP 23824327
MIRT617477 hsa-miR-6832-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20613862, 22022230, 25416956, 33961781
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005770 Component Late endosome NAS 22022230
GO:0015031 Process Protein transport IEA
GO:0016192 Process Vesicle-mediated transport NAS 22022230
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614367 25104 ENSG00000254470
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q2VPB7
Protein name AP-5 complex subunit beta-1 (Adaptor-related protein complex 5 beta subunit) (Beta5)
Protein function As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport.
Family and domains
Sequence 
MGPLSRDAWAQRLGAFRASPSAFMAGPEGEDLGRDLLSDLRSEKLSEQTKVSLLALSMEY
PAQLWPDASAAEVAATSLLDTLVLLPPRPSALRRPLLLAATTALAAGGALGPTSGASCRL
LPLLLGLAAGSDLGRGFVPASEQRPLQATACECLRELESCKPGLLGGSLGLLRGLLGQEG
PVQPLSLLLALALRNTLVLQSRVGAGLGGLLTDKVSPTGGGPWDWTLVEEGDGRLQPQAP
SWPAAEEGEGERSLTAREHSPEEARELRAAVIQLLDTSYLLTPVAQAQLLWLLGWALRGL
QGQPPALFKPQLVRLLGTAQLTLLHAMLALKAAFGEALFTAQDEALLLRRLTLAAQHPAL
PPPTHLFYLHCVLSFPENWPLGPEGEEAAPLLLGPQLCRGLLPSLLHDPMALLARLHLLC
LLCAEEEEEEKGQLPSPRHYLEELLAGLRQRAALDGGPRALATLCFQASYLVACCLAGQP
TVLTPLIHGLAQLYQARPMLAPHFVDLLDQVDSELREPLKVVLRQVVVSRPGRDEALCWH
LQMLAKVADGDAQSATLNFLQAAAAHCTNWDLQQGLLRVCRALLRAGVRGGLVDLLQVLA
RQLEDPDGRDHARLYYILLAHLAAPKLGVALGPSLAAPALASSLVAENQGFVAALMVQEA
PALVRLSLGSHRVKGPLPVLKLQPEALEPIYSLELRFRVEGQLYAPLEAVHVPCLCPGRP
ARPLLLPLQPRCPAPARLDVHALYTTSTGLTCHAHLPPLFVNFADLFLPFPQPPEGAGLG
FFEELWDSCLPEGAESRVWCPLGPQGLEGLVSRHLEPFVVVAQPPTSYCVAIHLPPDSKL
LLRLEAALADGVPVALRTDDWAVLPLAGDYLRGLAAAV
Sequence length 878
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (8)
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
Acne acne vulgaris N/A N/A GWAS
Asthma Asthma (age of onset), Age of onset of childhood onset asthma, Asthma, Asthma (childhood onset), Asthma onset (childhood vs adult) N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
Gout Gout N/A N/A GWAS
Show/Hide Text Mining Associations (13)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Asthma Associate 33710309
Fractures Stress Associate 30876376
Granuloma Associate 29510755
Lysosomal Storage Diseases Associate 26085577
Macular Degeneration Associate 40081374
Neoplastic Syndromes Hereditary Associate 40081374
Neurodegenerative Diseases Associate 29381698
Refsum Disease Infantile Associate 40081374
Retinal Diseases Associate 40081374
Sarcoidosis Associate 29510755