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	10717
Gene name	Adaptor related protein complex 4 subunit beta 1
Gene symbol	AP4B1
Synonyms (NCBI Gene)	BETA-4CPSQ5SPG47
Chromosome	1
Chromosome location	1p13.2
Summary	This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553259463	GACAT>-	Pathogenic	Intron variant, inframe indel, 5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained

Show/Hide all (3)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046304	hsa-miR-23b-3p	CLASH	23622248
MIRT046304	hsa-miR-23b-3p	CLASH	23622248
MIRT043998	hsa-miR-378a-5p	CLASH	23622248

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22472443, 25416956, 26542808, 26756312, 31515488, 32073997, 32296183, 33961781
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IDA	10066790
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005802	Component	Trans-Golgi network	NAS	10436028
GO:0005829	Component	Cytosol	IDA	10066790
GO:0006605	Process	Protein targeting	IC	10066790
GO:0006605	Process	Protein targeting	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0008104	Process	Intracellular protein localization	IC	10066790
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	10436028
GO:0030117	Component	Membrane coat	IEA
GO:0030124	Component	AP-4 adaptor complex	IDA	10066790
GO:0030124	Component	AP-4 adaptor complex	NAS	10436028
GO:0030131	Component	Clathrin adaptor complex	IEA
GO:0030276	Function	Clathrin binding	IEA
GO:0031904	Component	Endosome lumen	TAS
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0061938	Process	Protein localization to somatodendritic compartment	IEA
GO:0098541	Component	Cytoplasmic side of trans-Golgi network transport vesicle membrane	IDA	10066790

MIM	HGNC	e!Ensembl
607245	572	ENSG00000134262

Q9Y6B7

Protein name

AP-4 complex subunit beta-1 (AP-4 adaptor complex subunit beta) (Adaptor-related protein complex 4 subunit beta-1) (Beta subunit of AP-4) (Beta4-adaptin)

Protein function

Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (

PDB

2MJ7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01602	Adaptin_N	6 → 525	Adaptin N terminal region	Family
PF09066	B2-adapt-app_C	621 → 731	Beta2-adaptin appendage, C-terminal sub-domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10436028}.

Sequence

MPYLGSEDVVKELKKALCNPHIQADRLRYRNVIQRVIRYMTQGLDMSGVFMEMVKASATV
DIVQKKLVYLYMCTYAPLKPDLALLAINTLCKDCSDPNPMVRGLALRSMCSLRMPGVQEY
IQQPILNGLRDKASYVRRVAVLGCAKMHNLHGDSEVDGALVNELYSLLRDQDPIVVVNCL
RSLEEILKQEGGVVINKPIAHHLLNRMSKLDQWGQAEVLNFLLRYQPRSEEELFDILNLL
DSFLKSSSPGVVMGATKLFLILAKMFPHVQTDVLVRVKGPLLAACSSESRELCFVALCHV
RQILHSLPGHFSSHYKKFFCSYSEPHYIKLQKVEVLCELVNDENVQQVLEELRGYCTDVS
ADFAQAAIFAIGGIARTYTDQCVQILTELLGLRQEHITTVVVQTFRDLVWLCPQCTEAVC
QALPGCEENIQDSEGKQALIWLLGVHGERIPNAPYVLEDFVENVKSETFPAVKMELLTAL
LRLFLSRPAECQDMLGRLLYYCIEEEKDMAVRDRGLFYYRLLLVGIDEVKRILCSPKSDP
TLGLLEDPAERPVNSWASDFNTLVPVYGKAHWATISKCQGAERCDPELPKTSSFAASGPL
IPEENKERVQELPDSGALMLVPNRQLTADYFEKTWLSLKVAHQQVLPWRGEFHPDTLQMA
LQVVNIQTIAMSRAGSRPWKAYLSAQDDTGCLFLTELLLEPGNSEMQISVKQNEARTETL
NSFISVLETVIGTIEEIKS

Sequence length

739

Interactions

View interactions

	KEGG		Reactome
	Lysosome		Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis

417

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs1060499756, rs1060499771	RCV000454302 RCV000454309
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs587779388	RCV001814068
AP4B1-related disorder	Likely pathogenic; Pathogenic	rs2526556797, rs529495094	RCV003976997 RCV003413550
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs776976178	RCV001848851
Hereditary spastic paraplegia 47	Likely pathogenic; Pathogenic	rs767220480, rs762612591, rs2101015147, rs771888480, rs114201291, rs745580319, rs777248758, rs2101035173, rs2101024933, rs2101025777, rs138335735, rs1013939776, rs2101044378, rs587779388, rs587783179 View all (25 more)	RCV001334571 RCV002539788 RCV001806369 RCV001815636 RCV001816566 RCV001822084 RCV002503345 RCV002222333 RCV001900134 RCV001941867 RCV001951281 RCV001953661 RCV002052046 RCV000144484 RCV000145019 RCV002282739 RCV003068427 RCV002801100 RCV002801101 RCV002828917 RCV000195189 RCV003017260 RCV001854921 RCV005012875 RCV003340821 RCV003388766 RCV003525469 RCV003527607 RCV003642232 RCV003827593 RCV000505223 RCV000502249 RCV005357821 RCV003525938 RCV000649277 RCV001855943 RCV001775007 RCV001199093 RCV001195992 RCV001211765 RCV001253044
Intellectual disability	Likely pathogenic; Pathogenic	rs587779388	RCV001251672
Spastic paraplegia	Pathogenic; Likely pathogenic	rs2101015147, rs777248758, rs2101035173, rs2101024858, rs1041267828, rs2101043631, rs2100998416, rs2100994885, rs2100997427, rs2100992189, rs2100995157, rs587779388, rs587783179, rs797045244, rs879255397 View all (11 more)	RCV001849576 RCV001849775 RCV001849776 RCV001849777 RCV001849778 RCV001849779 RCV001849780 RCV001849781 RCV001849782 RCV001849783 RCV001849785 RCV001849316 RCV001849318 RCV001849337 RCV001849351 RCV001849350 RCV001849372 RCV001849374 RCV001849375 RCV001849381 RCV001849414 RCV001849408 RCV001849424 RCV001849437 RCV001849469 RCV001849481 RCV001849490

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs17464525	RCV005887009
AP-4 deficiency syndrome	Uncertain significance	rs1036907944	RCV002472200
Cervical cancer	Benign	rs17031980, rs117872964	RCV005887000 RCV005887014
Clear cell carcinoma of kidney	Benign	rs117872964	RCV005887015
Familial pancreatic carcinoma	Uncertain significance; Benign	rs28364563, rs17031980	RCV005922791 RCV005887001
Gastric cancer	Benign	rs17031980, rs117872964	RCV005887004 RCV005887016
Hepatocellular carcinoma	Benign	rs17031980, rs117872964	RCV005886998 RCV005887012
Lung cancer	Benign	rs17031980	RCV005887008
Malignant lymphoma, large B-cell, diffuse	Likely benign; Benign	rs772575711, rs17031980, rs17464525	RCV005922900 RCV005887002 RCV005887010
Malignant tumor of esophagus	Uncertain significance; Benign	rs28364563, rs17031980, rs117872964	RCV005922789 RCV005886999 RCV005887013
Melanoma	Benign	rs17031980	RCV005887007
Ovarian cancer	Uncertain significance	rs28364563	RCV005922790
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign	rs28364563, rs17031980, rs117872964	RCV005922792 RCV005887005 RCV005887017
Sarcoma	Benign	rs17031980	RCV005887003
Thyroid cancer, nonmedullary, 1	Benign	rs17031980, rs117872964	RCV005887006 RCV005887018
Uterine carcinosarcoma	Benign	rs17464525	RCV005887011

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
AIDS Related Complex	Associate	32166732
Arthritis Rheumatoid	Associate	33482886
Bovine Respiratory Disease Complex	Associate	31915823
Cerebral Hemorrhage	Associate	32166732
Cerebral Palsy	Associate	21620353
Cerebral Ventricle Neoplasms	Associate	32171285
Developmental Disabilities	Associate	32166732, 32171285
Diabetes Mellitus Type 1	Associate	34521982
Epilepsy	Associate	32166732
Intellectual Disability	Associate	21620353, 24781758, 32166732
Microcephaly	Associate	32166732
Muscle Hypotonia	Associate	32166732
Nervous System Malformations	Associate	32166732
Paraplegia	Associate	32166732
Protein Deficiency	Associate	21620353, 24781758, 31915823
Quadriplegia	Associate	24781758, 32171285
Seizures	Associate	32166732
Seizures Febrile	Associate	32171285
Spastic Paraplegia Hereditary	Associate	30337681, 31525725, 31915823, 32166732, 32979048, 34087981, 37482941

AP4B1 (adaptor related protein complex 4 subunit beta 1)