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	9179
Gene name	Adaptor related protein complex 4 subunit mu 1
Gene symbol	AP4M1
Synonyms (NCBI Gene)	CPSQ3MU-4MU-ARP2SPG50
Chromosome	7
Chromosome location	7q22.1
Summary	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 (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IMP	29180427
GO:0005515	Function	Protein binding	IPI	25416956, 26496610, 26544806, 29180427, 32073997, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005769	Component	Early endosome	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IBA
GO:0005802	Component	Trans-Golgi network	IDA	20230749, 29180427, 32073997
GO:0005802	Component	Trans-Golgi network	NAS	10436028
GO:0005829	Component	Cytosol	IEA
GO:0006605	Process	Protein targeting	IBA
GO:0006605	Process	Protein targeting	IDA	20230749
GO:0006605	Process	Protein targeting	IEA
GO:0006622	Process	Protein targeting to lysosome	IDA	11139587
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006886	Process	Intracellular protein transport	IMP	20230749, 29180427
GO:0006892	Process	Post-Golgi vesicle-mediated transport	TAS
GO:0006895	Process	Golgi to endosome transport	IMP	20230749
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008104	Process	Intracellular protein localization	ISS
GO:0008320	Function	Protein transmembrane transporter activity	TAS
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	NAS	10436028
GO:0019904	Function	Protein domain specific binding	IDA	11139587, 26544806
GO:0030124	Component	AP-4 adaptor complex	IDA	10066790, 11802162, 29180427
GO:0030124	Component	AP-4 adaptor complex	NAS	10436028
GO:0030131	Component	Clathrin adaptor complex	IEA
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031904	Component	Endosome lumen	TAS
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071806	Process	Protein transmembrane transport	IEA
GO:0090160	Process	Golgi to lysosome transport	IBA
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

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

433

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Pathogenic	rs2116614049	RCV001814408
AP4M1-related disorder	Likely pathogenic; Pathogenic	rs770705832, rs730882249	RCV003399328 RCV003390861
Brain atrophy	Pathogenic	rs730882249	RCV000162190
CNS hypomyelination	Pathogenic	rs730882249	RCV000162190
Global developmental delay	Pathogenic	rs730882249	RCV000162190
Hereditary spastic paraplegia	Pathogenic	rs369459721	RCV001849043
Hereditary spastic paraplegia 50	Likely pathogenic; Pathogenic	rs770705832, rs1397027035, rs750783717, rs1796054104, rs772119268, rs2116643498, rs1350685858, rs1437455190, rs764326593, rs766513025, rs2116668499, rs730882249, rs372641895, rs973744863, rs146262009 View all (20 more)	RCV001810068 RCV001972645 RCV001977862 RCV001986821 RCV001971834 RCV001912274 RCV002019358 RCV001955502 RCV002267591 RCV002267593 RCV002273188 RCV000191923 RCV003062717 RCV003110761 RCV000191922 RCV002828579 RCV000193994 RCV001040211 RCV002918352 RCV003140480 RCV003479661 RCV003506953 RCV003876279 RCV003871514 RCV003114618 RCV003507288 RCV000696462 RCV000534458 RCV000549259 RCV000626141 RCV000680158 RCV000991382 RCV001249634 RCV001879998 RCV001261614
Hypoplasia of the corpus callosum	Pathogenic	rs730882249	RCV000162190
Intellectual disability	Likely pathogenic; Pathogenic	rs797045249, rs369459721, rs1562912305, rs777220438, rs1437308674	RCV001251673 RCV001260899 RCV001260896 RCV001260895 RCV001260900
Microcephaly	Pathogenic	rs730882249	RCV000162190
Spastic paraplegia	Likely pathogenic; Pathogenic	rs770705832, rs777377185, rs2116638409, rs2116670931, rs1344550427, rs1584514057, rs371712994, rs2116616864, rs730882249, rs146262009, rs754498075, rs752598529, rs1057521784, rs1321353475, rs1554380391 View all (4 more)	RCV001849519 RCV001849786 RCV001849787 RCV001849789 RCV001849790 RCV001849791 RCV001849792 RCV001849793 RCV001849324 RCV001849336 RCV001849338 RCV001849358 RCV001849370 RCV001849397 RCV001849402 RCV001849421 RCV001849426 RCV001849470 RCV001849488 RCV001280532

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs372511561	RCV005899830
Adrenocortical carcinoma, hereditary	Likely benign	rs748639289	RCV005869908
AP-4 deficiency syndrome	Uncertain significance; Conflicting classifications of pathogenicity	rs2546955239, rs769502788, rs387906838	RCV006442804 RCV006444027 RCV006439583
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs372511561	RCV005899831
Colon adenocarcinoma	Likely benign; Uncertain significance	rs748639289, rs139861201	RCV005869907 RCV005898032
Gastric cancer	Likely benign	rs748639289	RCV005869909
Lung cancer	Likely benign; Conflicting classifications of pathogenicity	rs748639289, rs372511561	RCV005869911 RCV005899832
Malignant tumor of esophagus	Benign	rs202052188	RCV005920942
Melanoma	Likely benign	rs748639289	RCV005869910
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign	rs139861201, rs202164434	RCV005898033 RCV005905765
Uterine corpus endometrial carcinoma	Likely benign	rs778849366	RCV005925684

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)