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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	162
Gene name	Adaptor related protein complex 1 subunit beta 1
Gene symbol	AP1B1
Synonyms (NCBI Gene)	ADTB1AP105ABAM22CLAPB2KIDAR
Chromosome	22
Chromosome location	22q12.2
Summary	Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembra

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs780548317	C>A	Pathogenic	Coding sequence variant, stop gained
rs1602683532	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602749299	A>G	Pathogenic	Missense variant, coding sequence variant
rs1602761438	C>T	Pathogenic	Intron variant, splice acceptor variant

163

Show/Hide all (163)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023555	hsa-miR-1-3p	Proteomics	18668040
MIRT023555	hsa-miR-1-3p	Microarray	18668037
MIRT046805	hsa-miR-222-3p	CLASH	23622248
MIRT041898	hsa-miR-484	CLASH	23622248
MIRT040921	hsa-miR-18a-3p	CLASH	23622248
MIRT040619	hsa-miR-92b-3p	CLASH	23622248
MIRT039122	hsa-miR-769-3p	CLASH	23622248
MIRT037846	hsa-miR-455-3p	CLASH	23622248
MIRT786782	hsa-miR-1913	CLIP-seq
MIRT786783	hsa-miR-3117-5p	CLIP-seq
MIRT786784	hsa-miR-3166	CLIP-seq
MIRT786785	hsa-miR-3192	CLIP-seq
MIRT786786	hsa-miR-3194-3p	CLIP-seq
MIRT786787	hsa-miR-324-3p	CLIP-seq
MIRT786788	hsa-miR-3616-3p	CLIP-seq
MIRT786789	hsa-miR-3689a-3p	CLIP-seq
MIRT786790	hsa-miR-3689c	CLIP-seq
MIRT786791	hsa-miR-3919	CLIP-seq
MIRT786792	hsa-miR-3941	CLIP-seq
MIRT786793	hsa-miR-4436b-3p	CLIP-seq
MIRT786794	hsa-miR-4459	CLIP-seq
MIRT786795	hsa-miR-466	CLIP-seq
MIRT786796	hsa-miR-4671-5p	CLIP-seq
MIRT786797	hsa-miR-4672	CLIP-seq
MIRT786798	hsa-miR-4728-5p	CLIP-seq
MIRT786799	hsa-miR-4749-3p	CLIP-seq
MIRT786800	hsa-miR-4779	CLIP-seq
MIRT786801	hsa-miR-4795-3p	CLIP-seq
MIRT786802	hsa-miR-4797-5p	CLIP-seq
MIRT786803	hsa-miR-490-3p	CLIP-seq
MIRT786804	hsa-miR-556-3p	CLIP-seq
MIRT786805	hsa-miR-665	CLIP-seq
MIRT786806	hsa-miR-765	CLIP-seq
MIRT786807	hsa-miR-922	CLIP-seq
MIRT786808	hsa-miR-1	CLIP-seq
MIRT786809	hsa-miR-1225-3p	CLIP-seq
MIRT786810	hsa-miR-1254	CLIP-seq
MIRT786811	hsa-miR-1293	CLIP-seq
MIRT786812	hsa-miR-1470	CLIP-seq
MIRT786813	hsa-miR-1539	CLIP-seq
MIRT786814	hsa-miR-1915	CLIP-seq
MIRT786815	hsa-miR-1976	CLIP-seq
MIRT786816	hsa-miR-206	CLIP-seq
MIRT786817	hsa-miR-2682	CLIP-seq
MIRT786818	hsa-miR-298	CLIP-seq
MIRT786819	hsa-miR-3116	CLIP-seq
MIRT786820	hsa-miR-3157-3p	CLIP-seq
MIRT786821	hsa-miR-3162-3p	CLIP-seq
MIRT786822	hsa-miR-3189-3p	CLIP-seq
MIRT786823	hsa-miR-3193	CLIP-seq
MIRT786824	hsa-miR-34a	CLIP-seq
MIRT786825	hsa-miR-34c-5p	CLIP-seq
MIRT786826	hsa-miR-3677-5p	CLIP-seq
MIRT786827	hsa-miR-3915	CLIP-seq
MIRT786828	hsa-miR-3928	CLIP-seq
MIRT786829	hsa-miR-4254	CLIP-seq
MIRT786830	hsa-miR-4260	CLIP-seq
MIRT786831	hsa-miR-4270	CLIP-seq
MIRT786832	hsa-miR-4281	CLIP-seq
MIRT786833	hsa-miR-4436a	CLIP-seq
MIRT786834	hsa-miR-4441	CLIP-seq
MIRT786835	hsa-miR-4481	CLIP-seq
MIRT786836	hsa-miR-4483	CLIP-seq
MIRT786837	hsa-miR-449a	CLIP-seq
MIRT786838	hsa-miR-449b	CLIP-seq
MIRT786839	hsa-miR-449c	CLIP-seq
MIRT786840	hsa-miR-4514	CLIP-seq
MIRT786841	hsa-miR-4651	CLIP-seq
MIRT786842	hsa-miR-4667-3p	CLIP-seq
MIRT786843	hsa-miR-4692	CLIP-seq
MIRT786844	hsa-miR-4712-3p	CLIP-seq
MIRT786845	hsa-miR-4737	CLIP-seq
MIRT786846	hsa-miR-4745-5p	CLIP-seq
MIRT786847	hsa-miR-4758-5p	CLIP-seq
MIRT786848	hsa-miR-4769-3p	CLIP-seq
MIRT786849	hsa-miR-4795-5p	CLIP-seq
MIRT786850	hsa-miR-486-3p	CLIP-seq
MIRT786851	hsa-miR-499-3p	CLIP-seq
MIRT786852	hsa-miR-499a-3p	CLIP-seq
MIRT786853	hsa-miR-513a-5p	CLIP-seq
MIRT786854	hsa-miR-608	CLIP-seq
MIRT786855	hsa-miR-613	CLIP-seq
MIRT786809	hsa-miR-1225-3p	CLIP-seq
MIRT1932052	hsa-miR-1226	CLIP-seq
MIRT786810	hsa-miR-1254	CLIP-seq
MIRT1932053	hsa-miR-1273g	CLIP-seq
MIRT738000	hsa-miR-1291	CLIP-seq
MIRT786811	hsa-miR-1293	CLIP-seq
MIRT786812	hsa-miR-1470	CLIP-seq
MIRT1932054	hsa-miR-151-5p	CLIP-seq
MIRT1932055	hsa-miR-151b	CLIP-seq
MIRT786813	hsa-miR-1539	CLIP-seq
MIRT1932056	hsa-miR-185	CLIP-seq
MIRT1932057	hsa-miR-1909	CLIP-seq
MIRT786815	hsa-miR-1976	CLIP-seq
MIRT1932058	hsa-miR-3065-3p	CLIP-seq
MIRT786819	hsa-miR-3116	CLIP-seq
MIRT786823	hsa-miR-3193	CLIP-seq
MIRT1932059	hsa-miR-323-5p	CLIP-seq
MIRT786824	hsa-miR-34a	CLIP-seq
MIRT786825	hsa-miR-34c-5p	CLIP-seq
MIRT786792	hsa-miR-3941	CLIP-seq
MIRT786829	hsa-miR-4254	CLIP-seq
MIRT786832	hsa-miR-4281	CLIP-seq
MIRT737999	hsa-miR-4292	CLIP-seq
MIRT1932060	hsa-miR-4306	CLIP-seq
MIRT1932061	hsa-miR-4456	CLIP-seq
MIRT786836	hsa-miR-4483	CLIP-seq
MIRT786837	hsa-miR-449a	CLIP-seq
MIRT786838	hsa-miR-449b	CLIP-seq
MIRT1932062	hsa-miR-4644	CLIP-seq
MIRT786795	hsa-miR-466	CLIP-seq
MIRT786842	hsa-miR-4667-3p	CLIP-seq
MIRT786797	hsa-miR-4672	CLIP-seq
MIRT1932063	hsa-miR-4684-3p	CLIP-seq
MIRT786844	hsa-miR-4712-3p	CLIP-seq
MIRT786845	hsa-miR-4737	CLIP-seq
MIRT1932064	hsa-miR-4786-5p	CLIP-seq
MIRT1932065	hsa-miR-485-5p	CLIP-seq
MIRT786804	hsa-miR-556-3p	CLIP-seq
MIRT1932066	hsa-miR-576-3p	CLIP-seq
MIRT1932067	hsa-miR-663b	CLIP-seq
MIRT1932068	hsa-miR-876-3p	CLIP-seq
MIRT2475465	hsa-miR-1205	CLIP-seq
MIRT786809	hsa-miR-1225-3p	CLIP-seq
MIRT1932052	hsa-miR-1226	CLIP-seq
MIRT2475466	hsa-miR-1233	CLIP-seq
MIRT1932053	hsa-miR-1273g	CLIP-seq
MIRT738000	hsa-miR-1291	CLIP-seq
MIRT786811	hsa-miR-1293	CLIP-seq
MIRT1932057	hsa-miR-1909	CLIP-seq
MIRT786782	hsa-miR-1913	CLIP-seq
MIRT786786	hsa-miR-3194-3p	CLIP-seq
MIRT1932059	hsa-miR-323-5p	CLIP-seq
MIRT786787	hsa-miR-324-3p	CLIP-seq
MIRT737998	hsa-miR-378g	CLIP-seq
MIRT737995	hsa-miR-4268	CLIP-seq
MIRT737999	hsa-miR-4292	CLIP-seq
MIRT2475467	hsa-miR-4323	CLIP-seq
MIRT737997	hsa-miR-4437	CLIP-seq
MIRT2475468	hsa-miR-4448	CLIP-seq
MIRT1932061	hsa-miR-4456	CLIP-seq
MIRT786836	hsa-miR-4483	CLIP-seq
MIRT737996	hsa-miR-4674	CLIP-seq
MIRT1932063	hsa-miR-4684-3p	CLIP-seq
MIRT786799	hsa-miR-4749-3p	CLIP-seq
MIRT1932068	hsa-miR-876-3p	CLIP-seq
MIRT2475465	hsa-miR-1205	CLIP-seq
MIRT1932052	hsa-miR-1226	CLIP-seq
MIRT1932053	hsa-miR-1273g	CLIP-seq
MIRT738000	hsa-miR-1291	CLIP-seq
MIRT786811	hsa-miR-1293	CLIP-seq
MIRT1932057	hsa-miR-1909	CLIP-seq
MIRT1932059	hsa-miR-323-5p	CLIP-seq
MIRT737998	hsa-miR-378g	CLIP-seq
MIRT737995	hsa-miR-4268	CLIP-seq
MIRT737999	hsa-miR-4292	CLIP-seq
MIRT737997	hsa-miR-4437	CLIP-seq
MIRT1932061	hsa-miR-4456	CLIP-seq
MIRT786836	hsa-miR-4483	CLIP-seq
MIRT737996	hsa-miR-4674	CLIP-seq
MIRT1932063	hsa-miR-4684-3p	CLIP-seq
MIRT1932068	hsa-miR-876-3p	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001822	Process	Kidney development	IEA
GO:0005515	Function	Protein binding	IPI	9733768, 23415225, 24189400, 24843023, 32296183, 35384245
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	NAS	23247405
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005769	Component	Early endosome	NAS	23247405
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006886	Process	Intracellular protein transport	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007507	Process	Heart development	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	NAS	23247405, 27057418
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	ISS
GO:0030117	Component	Membrane coat	IEA
GO:0030121	Component	AP-1 adaptor complex	NAS	15377783, 27057418
GO:0030131	Component	Clathrin adaptor complex	IEA
GO:0030276	Function	Clathrin binding	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	TAS
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032588	Component	Trans-Golgi network membrane	NAS	15377783, 27057418
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0060155	Process	Platelet dense granule organization	NAS	23247405
GO:0110010	Process	Basolateral protein secretion	NAS	27057418
GO:1903232	Process	Melanosome assembly	NAS	23247405

MIM	HGNC	e!Ensembl
600157	554	ENSG00000100280

Q10567

Protein name

AP-1 complex subunit beta-1 (Adaptor protein complex AP-1 subunit beta-1) (Adaptor-related protein complex 1 subunit beta-1) (Beta-1-adaptin) (Beta-adaptin 1) (Clathrin assembly protein complex 1 beta large chain) (Golgi adaptor HA1/AP1 adaptin beta subun

Protein function

Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes (PubMed:31630791). The AP complexes mediate both the recruitment of clathrin to membranes

PDB

4HMY , 4P6Z , 6CM9 , 6CRI , 6D83 , 6D84 , 6DFF , 7R4H , 7UX3 , 8D4C , 8D4D , 8D4E , 8D4F , 8D4G , 8D9R , 8D9S , 8D9T , 8D9U , 8D9V , 8D9W

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01602	Adaptin_N	10 → 534	Adaptin N terminal region	Family
PF02883	Alpha_adaptinC2	720 → 826	Adaptin C-terminal domain	Domain
PF09066	B2-adapt-app_C	836 → 947	Beta2-adaptin appendage, C-terminal sub-domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed.

Sequence

MTDSKYFTTTKKGEIFELKAELNSDKKEKKKEAVKKVIASMTVGKDVSALFPDVVNCMQT
DNLELKKLVYLYLMNYAKSQPDMAIMAVNTFVKDCEDPNPLIRALAVRTMGCIRVDKITE
YLCEPLRKCLKDEDPYVRKTAAVCVAKLHDINAQLVEDQGFLDTLKDLISDSNPMVVANA
VAALSEIAESHPSSNLLDLNPQSINKLLTALNECTEWGQIFILDCLANYMPKDDREAQSI
CERVTPRLSHANSAVVLSAVKVLMKFMEMLSKDLDYYGTLLKKLAPPLVTLLSAEPELQY
VALRNINLIVQKRPEILKHEMKVFFVKYNDPIYVKLEKLDIMIRLASQANIAQVLAELKE
YATEVDVDFVRKAVRAIGRCAIKVEQSAERCVSTLLDLIQTKVNYVVQEAIVVIKDIFRK
YPNKYESVIATLCENLDSLDEPEARAAMIWIVGEYAERIDNADELLESFLEGFHDESTQV
QLQLLTAIVKLFLKKPTETQELVQQVLSLATQDSDNPDLRDRGYIYWRLLSTDPVAAKEV
VLAEKPLISEETDLIEPTLLDELICYIGTLASVYHKPPSAFVEGGRGVVHKSLPPRTASS
ESAESPETAPTGAPPGEQPDVIPAQGDLLGDLLNLDLGPPVSGPPLATSSVQMGAVDLLG
GGLDSLMGDEPEGIGGTNFVAPPTAAVPANLGAPIGSGLSDLFDLTSGVGTLSGSYVAPK
AVWLPAMKAKGLEISGTFTRQVGSISMDLQLTNKALQVMTDFAIQFNRNSFGLAPATPLQ
VHAPLSPNQTVEISLPLSTVGSVMKMEPLNNLQVAVKNNIDVFYFSTLYPLHILFVEDGK
MDRQMFLATWKDIPNENEAQFQIRDCPLNAEAASSKLQSSNIFTVAKRNVEGQDMLYQSL
KLTNGIWVLAELRIQPGNPSCTDLELSLKCRAPEVSQHVYQAYETILKN

Sequence length

949

Interactions

View interactions

	KEGG		Reactome
	Lysosome Human immunodeficiency virus 1 infection		Nef mediated downregulation of MHC class I complex cell surface expression MHC class II antigen presentation Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive keratitis-ichthyosis-deafness syndrome	Pathogenic; Likely pathogenic	rs2147978539, rs2148022135, rs1160266009, rs2147995205, rs1334834057, rs2517758542, rs1602761438, rs1602749299, rs1602683532, rs780548317	RCV001728098 RCV001824242 RCV002274494 RCV002274495 RCV002274496 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

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.
AP1B1-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROKERATODERMIA VARIABILIS 3	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	39838438	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	31630788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	31630788, 40101690	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia Variabilis 3	Erythrokeratodermia variabilis	Pubtator	31630791	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	31630791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	39838438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	31630788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	40101690	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	31630788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	31630788, 40101690	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	31630791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36077416	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	Pubtator	40101690	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MEDNIK syndrome	MEDNIK Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	20809251, 7987321, 8812422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16398473, 7987321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	36232302	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	31630788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

AP1B1 (adaptor related protein complex 1 subunit beta 1)