Gene Gene information from NCBI Gene database.
Entrez ID 91056
Gene name Adaptor related protein complex 5 subunit beta 1
Gene symbol AP5B1
Synonyms (NCBI Gene)
AP-5PP1030
Chromosome 11
Chromosome location 11q13.1
miRNA miRNA information provided by mirtarbase database.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614367 25104 ENSG00000254470
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary spastic paraplegia Uncertain significance rs1555023306, rs375914619, rs201041158 RCV000516057
RCV000515930
RCV000515925
Associations from Text MiningDisease 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