AP5B1 (adaptor related protein complex 5 subunit beta 1)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 91056
• Gene name: Adaptor related protein complex 5 subunit beta 1
• Gene symbol: AP5B1
• Synonyms (NCBI Gene): AP-5, PP1030
• Chromosome: 11
• Chromosome location: 11q13.1

miRNA 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
MIRT617473	hsa-miR-4697-3p	HITS-CLIP	23824327
MIRT617472	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT617471	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT617470	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617474	hsa-miR-4769-3p	HITS-CLIP	23824327
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
MIRT617476	hsa-miR-4287	HITS-CLIP	23824327
MIRT617475	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT617473	hsa-miR-4697-3p	HITS-CLIP	23824327
MIRT617470	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617474	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT640338	hsa-miR-4704-3p	HITS-CLIP	23824327
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
MIRT640337	hsa-miR-4264	HITS-CLIP	23824327
MIRT640336	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT640335	hsa-miR-4437	HITS-CLIP	23824327
MIRT617473	hsa-miR-4697-3p	HITS-CLIP	23824327
MIRT617472	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT617471	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT617470	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617474	hsa-miR-4769-3p	HITS-CLIP	23824327
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
MIRT617476	hsa-miR-4287	HITS-CLIP	23824327
MIRT617475	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT617474	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT617473	hsa-miR-4697-3p	HITS-CLIP	23824327
MIRT617472	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT617471	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT617470	hsa-miR-6749-3p	HITS-CLIP	23824327
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
MIRT617473	hsa-miR-4697-3p	HITS-CLIP	23824327
MIRT617472	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT617471	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT617470	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617474	hsa-miR-4769-3p	HITS-CLIP	23824327
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
MIRT617476	hsa-miR-4287	HITS-CLIP	23824327
MIRT617475	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT617473	hsa-miR-4697-3p	HITS-CLIP	23824327
MIRT617470	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617474	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT640338	hsa-miR-4704-3p	HITS-CLIP	23824327
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
MIRT640337	hsa-miR-4264	HITS-CLIP	23824327
MIRT640336	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT640335	hsa-miR-4437	HITS-CLIP	23824327
MIRT617473	hsa-miR-4697-3p	HITS-CLIP	23824327
MIRT617472	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT617471	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT617470	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617474	hsa-miR-4769-3p	HITS-CLIP	23824327
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
MIRT617476	hsa-miR-4287	HITS-CLIP	23824327
MIRT617475	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT617474	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT617473	hsa-miR-4697-3p	HITS-CLIP	23824327
MIRT617472	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT617471	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT617470	hsa-miR-6749-3p	HITS-CLIP	23824327

Gene ontology (GO) 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
GO:0016197	Process	Endosomal transport	IBA
GO:0016197	Process	Endosomal transport	IEA
GO:0016197	Process	Endosomal transport	IMP	22022230
GO:0030119	Component	AP-type membrane coat adaptor complex	IBA
GO:0030119	Component	AP-type membrane coat adaptor complex	IDA	22022230
GO:0044599	Component	AP-5 adaptor complex	NAS	22022230

Other IDs

• MIM: 614367
• HGNC: 25104
• e!Ensembl: ENSG00000254470

Protein

• 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.
• Sequence:

  MGPLSRDAWAQRLGAFRASPSAFMAGPEGEDLGRDLLSDLRSEKLSEQTKVSLLALSMEY
  PAQLWPDASAAEVAATSLLDTLVLLPPRPSALRRPLLLAATTALAAGGALGPTSGASCRL
  LPLLLGLAAGSDLGRGFVPASEQRPLQATACECLRELESCKPGLLGGSLGLLRGLLGQEG
  PVQPLSLLLALALRNTLVLQSRVGAGLGGLLTDKVSPTGGGPWDWTLVEEGDGRLQPQAP
  SWPAAEEGEGERSLTAREHSPEEARELRAAVIQLLDTSYLLTPVAQAQLLWLLGWALRGL
  QGQPPALFKPQLVRLLGTAQLTLLHAMLALKAAFGEALFTAQDEALLLRRLTLAAQHPAL
  PPPTHLFYLHCVLSFPENWPLGPEGEEAAPLLLGPQLCRGLLPSLLHDPMALLARLHLLC
  LLCAEEEEEEKGQLPSPRHYLEELLAGLRQRAALDGGPRALATLCFQASYLVACCLAGQP
  TVLTPLIHGLAQLYQARPMLAPHFVDLLDQVDSELREPLKVVLRQVVVSRPGRDEALCWH
  LQMLAKVADGDAQSATLNFLQAAAAHCTNWDLQQGLLRVCRALLRAGVRGGLVDLLQVLA
  RQLEDPDGRDHARLYYILLAHLAAPKLGVALGPSLAAPALASSLVAENQGFVAALMVQEA
  PALVRLSLGSHRVKGPLPVLKLQPEALEPIYSLELRFRVEGQLYAPLEAVHVPCLCPGRP
  ARPLLLPLQPRCPAPARLDVHALYTTSTGLTCHAHLPPLFVNFADLFLPFPQPPEGAGLG
  FFEELWDSCLPEGAESRVWCPLGPQGLEGLVSRHLEPFVVVAQPPTSYCVAIHLPPDSKL
  LLRLEAALADGVPVALRTDDWAVLPLAGDYLRGLAAAV

• Sequence length: 878

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (13)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ASTHMA	—	GWAS catalog	29083406, 30929738, 31036433, 31361310, 32296059, 34103634, 41213931	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	22197932, 23042114, 26482879, 26542096, 34116867, 34454985, 35577104	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	26542096, 30929738, 31036433	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	20383146, 31152163, 39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	31578528, 33462484, 33832965, 36281732, 39024449, 39406924	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE NEPHROPATHY	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	GWAS catalog	40835619	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	25854761	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	30595370, 38965376	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	26502338, 27399966, 28714469, 36750564	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (17)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	23263486		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30876376		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	33710309	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choriocarcinoma	Choriocarcinoma	BEFREE	12511603		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	10085509		★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	23263486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	27399966		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	40081374	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29381698	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	25854761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Diseases	Retinal detachment	Pubtator	40081374	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	29510755	Associate	★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	BEFREE	30876376		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 11 autosomal recessive	Spastic paraplegia	Pubtator	26085577	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	22022230, 23825025, 26085577, 29381698	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	18224668		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	18385798	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

DCDC1 2 shared diseasesHypertensive nephropathy, Kidney failure 3 shared evidence sourcesGWAS catalog (Kidney disease), GWAS catalog (Hypertensive nephropathy), GWAS catalog (Kidney failure) Related via 2 shared diseases including Hypertensive nephropathy, Kidney failure — evidence mostly GWAS catalog. FLRT1 2 shared diseasesHereditary spastic paraplegia, Hyperuricemia 2 shared evidence sourcesDisgenet (Hereditary spastic paraplegia), GWAS catalog (Hyperuricemia) Related via 2 shared diseases including Hereditary spastic paraplegia, Hyperuricemia — evidence mostly Disgenet. MACROD1 2 shared diseasesHereditary spastic paraplegia, Hyperuricemia 2 shared evidence sourcesDisgenet (Hereditary spastic paraplegia), GWAS catalog (Hyperuricemia) Related via 2 shared diseases including Hereditary spastic paraplegia, Hyperuricemia — evidence mostly Disgenet. MILR1 2 shared diseasesHereditary spastic paraplegia, Respiratory system disease 2 shared evidence sourcesDisgenet (Hereditary spastic paraplegia), GWAS catalog (Respiratory system disease) Related via 2 shared diseases including Hereditary spastic paraplegia, Respiratory system disease — evidence mostly Disgenet. OVOL1 3 shared diseasesHypertensive nephropathy, Kidney failure, Respiratory system disease 4 shared evidence sourcesGWAS catalog (Kidney disease), GWAS catalog (Hypertensive nephropathy), GWAS catalog (Kidney failure), GWAS catalog (Respiratory system disease) Related via 3 shared diseases including Hypertensive nephropathy, Kidney failure — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
DCDC1	2	["Hypertensive nephropathy","Kidney failure"]	0	[]	3	["GWAS catalog (Kidney disease)","GWAS catalog (Hypertensive nephropathy)","GWAS catalog (Kidney failure)"]
FLRT1	2	["Hereditary spastic paraplegia","Hyperuricemia"]	0	[]	2	["Disgenet (Hereditary spastic paraplegia)","GWAS catalog (Hyperuricemia)"]
MACROD1	2	["Hereditary spastic paraplegia","Hyperuricemia"]	0	[]	2	["Disgenet (Hereditary spastic paraplegia)","GWAS catalog (Hyperuricemia)"]
MILR1	2	["Hereditary spastic paraplegia","Respiratory system disease"]	0	[]	2	["Disgenet (Hereditary spastic paraplegia)","GWAS catalog (Respiratory system disease)"]
OVOL1	3	["Hypertensive nephropathy","Kidney failure","Respiratory system disease"]	0	[]	4	["GWAS catalog (Kidney disease)","GWAS catalog (Hypertensive nephropathy)","GWAS catalog (Kidney failure)","GWAS catalog (Respiratory system disease)"]

Diseases Linked via Similar Genes

Cardiovascular disease Linked via 3 of 5 related genesDCDC1, MACROD1, OVOL1 Metabolic syndrome Linked via 3 of 5 related genesFLRT1, MACROD1, OVOL1 Diabetes mellitus type 2 Linked via 3 of 5 related genesFLRT1, MACROD1, OVOL1 Bipolar disorder Linked via 2 of 5 related genesDCDC1, MACROD1 Hypertension Linked via 2 of 5 related genesDCDC1, OVOL1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Cardiovascular disease	3	["DCDC1","MACROD1","OVOL1"]
Metabolic syndrome	3	["FLRT1","MACROD1","OVOL1"]
Diabetes mellitus type 2	3	["FLRT1","MACROD1","OVOL1"]
Bipolar disorder	2	["DCDC1","MACROD1"]
Hypertension	2	["DCDC1","OVOL1"]