Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
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

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

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

MIM	HGNC	e!Ensembl
614367	25104	ENSG00000254470

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

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)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE NEPHROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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

AP5B1 (adaptor related protein complex 5 subunit beta 1)