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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9179
Gene name Gene Name - the full gene name approved by the HGNC.	Adaptor related protein complex 4 subunit mu 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AP4M1
Synonyms (NCBI Gene) Gene synonyms aliases	CPSQ3, MU-4, MU-ARP2, SPG50
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CPSQ3, SPG50
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q22.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from t

Show/Hide all(11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141754568	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs146262009	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs369459721	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs730882249	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs776788025	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs780030221	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057521784	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691556	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1191415115	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554380093	G>A	Pathogenic	Coding sequence variant, missense variant
rs1584514057	->G	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(15)

miRTarBase ID	miRNA	Experiments
MIRT788505	hsa-miR-1224-5p	CLIP-seq
MIRT788506	hsa-miR-1236	CLIP-seq
MIRT788507	hsa-miR-3074-5p	CLIP-seq
MIRT788508	hsa-miR-3199	CLIP-seq
MIRT788509	hsa-miR-4330	CLIP-seq
MIRT788510	hsa-miR-4676-5p	CLIP-seq
MIRT788511	hsa-miR-4722-3p	CLIP-seq
MIRT788512	hsa-miR-4740-5p	CLIP-seq
MIRT788513	hsa-miR-4751	CLIP-seq
MIRT788514	hsa-miR-4760-5p	CLIP-seq
MIRT788515	hsa-miR-575	CLIP-seq
MIRT788516	hsa-miR-668	CLIP-seq
MIRT788509	hsa-miR-4330	CLIP-seq
MIRT788510	hsa-miR-4676-5p	CLIP-seq
MIRT788515	hsa-miR-575	CLIP-seq

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 26544806, 32296183
GO:0005769	Component	Early endosome	ISS
GO:0005802	Component	Trans-Golgi network	IBA	21873635
GO:0005802	Component	Trans-Golgi network	IDA	20230749
GO:0005829	Component	Cytosol	IEA
GO:0006605	Process	Protein targeting	IBA	21873635
GO:0006605	Process	Protein targeting	IDA	20230749
GO:0006622	Process	Protein targeting to lysosome	IDA	11139587
GO:0006886	Process	Intracellular protein transport	IMP	20230749
GO:0006895	Process	Golgi to endosome transport	IMP	20230749
GO:0008104	Process	Protein localization	ISS
GO:0016192	Process	Vesicle-mediated transport	IBA	21873635
GO:0019904	Function	Protein domain specific binding	IDA	11139587, 26544806
GO:0030124	Component	AP-4 adaptor complex	IDA	10066790, 11802162
GO:0030131	Component	Clathrin adaptor complex	IEA
GO:0031410	Component	Cytoplasmic vesicle	IBA	21873635
GO:0031904	Component	Endosome lumen	TAS
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0090160	Process	Golgi to lysosome transport	IBA	21873635
GO:0090160	Process	Golgi to lysosome transport	IDA	11139587
GO:1903361	Process	Protein localization to basolateral plasma membrane	ISS

MIM	HGNC	e!Ensembl
602296	574	ENSG00000221838

Protein

UniProt ID

O00189

Protein name

AP-4 complex subunit mu-1 (AP-4 adaptor complex mu subunit) (Adaptor-related protein complex 4 subunit mu-1) (Mu subunit of AP-4) (Mu-adaptin-related protein 2) (mu-ARP2) (Mu4-adaptin) (mu4)

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

3L81 , 4MDR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01217	Clat_adaptor_s	1 → 139	Clathrin adaptor complex small chain	Domain
PF00928	Adap_comp_sub	173 → 453	Adaptor complexes medium subunit family	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Highly expressed in testis and lowly expressed in brain and lung. {ECO:0000269|PubMed:9013859}.

Sequence

MISQFFILSSKGDPLIYKDFRGDSGGRDVAELFYRKLTGLPGDESPVVMHHHGRHFIHIR
HSGLYLVVTTSENVSPFSLLELLSRLATLLGDYCGSLGEGTISRNVALVYELLDEVLDYG
YVQTTSTEMLRNFIQTEAVVSKPFSLFDLSSVGLFGAETQQSKVAPSSAASRPVLSSRSD
QSQKNEVFLDVVERLSVLIASNGSLLKVDVQGEIRLKSFLPSGSEMRIGLTEEFCVGKSE
LRGYGPGIRVDEVSFHSSVNLDEFESHRILRLQPPQGELTVMRYQLSDDLPSPLPFRLFP
SVQWDRGSGRLQVYLKLRCDLLSKSQALNVRLHLPLPRGVVSLSQELSSPEQKAELAEGA
LRWDLPRVQGGSQLSGLFQMDVPGPPGPPSHGLSTSASPLGLGPASLSFELPRHTCSGLQ
VRFLRLAFRPCGNANPHKWVRHLSHSDAYVIRI

Sequence length

453

Interactions

View interactions

	KEGG		Reactome
	Lysosome		Lysosome Vesicle Biogenesis

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039 View all (65 more)	29777097
Cerebral palsy	Cerebral Palsy	rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Mental retardation	Profound Mental Retardation, Severe intellectual disability, Mental deficiency, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	21937992
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Spastic paraplegia	Spastic Paraplegia, Spastic Paraplegia-50, Autosomal Recessive	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520 View all (368 more)	29096665, 19559397

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Spastic Paraplegia	hereditary spastic paraplegia 50			GenCC

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text Mining
Alzheimer Disease	Associate	33712570
Atrophy	Associate	29096665
Autosomal Recessive Primary Microcephaly	Associate	28464862
Bovine Respiratory Disease Complex	Associate	31915823
Cerebellar Hypoplasia	Associate	29096665
Cerebral Palsy	Associate	19559397, 21620353, 25496299
Colorectal Neoplasms	Associate	32319648
Congenital Abnormalities	Associate	25496299
Developmental Disabilities	Associate	29096665
Epilepsy	Associate	36371792
Glutamate formiminotransferase deficiency	Associate	19559397
Head and Neck Neoplasms	Associate	25496299
Hypoxia Ischemia Brain	Associate	19559397
Intellectual Disability	Associate	21620353, 25496299, 29096665, 36371792
Leukoencephalopathies	Associate	19559397
Microcephaly	Associate	28464862
Mitochondrial Complex III Deficiency	Associate	25496299
Muscle Weakness	Associate	29096665
Neuroaxonal Dystrophies	Associate	19559397
Neuroferritinopathy	Associate	35180557
Ornithine Carbamoyltransferase Deficiency Disease	Associate	40059726
Pantothenate Kinase Associated Neurodegeneration	Associate	39419454
Paraparesis Spastic	Associate	25496299
Paraplegia	Associate	36371792
Personality Disorders	Associate	25496299
Protein Deficiency	Associate	24781758
Protein Deficiency	Inhibit	31915823
Quadriplegia	Associate	19559397
Seizures Febrile	Associate	29096665
Spastic Paraplegia 50 Autosomal Recessive	Associate	30337681, 36371792
Spastic Paraplegia Hereditary	Associate	29096665, 30337681, 31525725, 31915823, 32979048, 34087981, 37482941
X Linked Combined Immunodeficiency Diseases	Associate	25496299

AP4M1 (adaptor related protein complex 4 subunit mu 1)