AP4M1 - adaptor related protein complex 4 subunit mu 1 Gene

Also Known as MU-4; CPSQ3; SPG50; MU-ARP2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9179

About AP4M1

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:100,100,794-100,109,039 (from NCBI)

This gene has 17 transcripts (splice variants), 189 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 12.8), endometrium (RPKM 6.9) and 25 other tissues.

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 the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]

AP4M1 Products (2)

mRNA	Protein	Name
NM_001363671.2	NP_001350600.1	AP-4 complex subunit mu-1 isoform 2
NM_004722.4	NP_004713.2	AP-4 complex subunit mu-1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein domain specific binding	IDA IDA: Inferred from direct assay	11139587	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in Golgi to endosome transport	IMP IMP: Inferred from mutant phenotype	20230749	GOA
involved in Golgi to lysosome transport	IDA IDA: Inferred from direct assay	11139587	GOA
involved in autophagosome assembly	IMP IMP: Inferred from mutant phenotype	29180427	GOA
involved in intracellular protein transport	IMP IMP: Inferred from mutant phenotype	20230749	GOA
involved in protein targeting	IDA IDA: Inferred from direct assay	20230749	GOA
involved in protein targeting to lysosome	IDA IDA: Inferred from direct assay	11139587	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of AP-4 adaptor complex	IDA IDA: Inferred from direct assay	10066790	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	20230749	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AP4M1 Protein Structure

Clat_adaptor_s

Adap_comp_sub

0
100
200
300
400
453 a.a.

Protein Preferred Names	Protein Names
AP-4 complex subunit mu-1	AP-4 adaptor complex mu subunit

AP4M1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	AP4M1	O00189	TEPSIN	Homo sapiens	Q96N21	Y2H	32073997
Intra	AP4M1	O00189	TEPSIN	Homo sapiens	Q96N21	Anti Tag CoIP	26496610
Intra	AP4M1	O00189	USP47	Homo sapiens	Q96K76-3	Validated Y2H	32296183
Intra	AP4M1	O00189	USP47	Homo sapiens	Q96K76	Validated Y2H	25416956
Intra	AP4M1	O00189	USP47	Homo sapiens	Q96K76	Y2H Array	25416956
Intra	AP4M1	O00189	FNTA	Homo sapiens	P49354	Validated Y2H	32296183
Intra	AP4M1	O00189	HOOK1	Homo sapiens	Q9UJC3	Y2H	32073997

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spastic Paraplegia 50, Autosomal Recessive	Hereditary Spastic Paraplegia 50 SPG50 Ap-4 Deficiency Syndrome Ap-4-Associated Hereditary Spastic Paraplegia Adaptor Protein Complex 4 Deficiency Cerebral Palsy, Spastic Quadriplegic, 3, Formerly Cpsq3, Formerly Autosomal Recessive Spastic Paraplegia 50 Cpsq3 Spastic Quadriplegic Cerebral Palsy 3 Ap-4 Deficiency Ap-4-Associated Hsp Paraplegia, Spastic, Autosomal Recessive, Type 50 Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia 51, Autosomal Recessive	SPG51 Spastic Paraplegia 51 Ap4 Deficiency Syndrome Cpsq4 Cerebral Palsy, Spastic Quadriplegic, 4 Severe Intellectual Disability And Progressive Spastic Paraplegia Cerebral Palsy, Spastic Quadriplegic, 4, Formerly Cpsq4, Formerly Autosomal Recessive Spastic Paraplegia 51 Cerebral Palsy, Spastic Quadriplegic 4
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Non-Syndromic X-Linked Intellectual Disability 46	Mrx46
Stuttering	Stammering Familial Persistent Stuttering Stuttering, Familial Persistent 1
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Spastic Paraplegia 47, Autosomal Recessive	Hereditary Spastic Paraplegia 47 SPG47 Cpsq5 Cerebral Palsy, Spastic Quadriplegic, 5, Formerly Cpsq5, Formerly Autosomal Recessive Spastic Paraplegia 47 Spastic Quadriplegic Cerebral Palsy 5 Cerebral Palsy, Spastic Quadriplegic 5
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Hermansky-Pudlak Syndrome 2	HPS2 Hermansky Pudlak Syndrome 2 Platelet Defects And Oculocutaneous Albinism Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Delta Storage Pool Disease Hermansky-Pudlak Syndrome, Type 2 Platelet Storage Pool Deficiency Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Spastic Paraplegia 53, Autosomal Recessive	SPG53 Hereditary Spastic Paraplegia 53 Autosomal Recessive Spastic Paraplegia Type 53 Autosomal Recessive Spastic Paraplegia 53 Paraplegia, Spastic, Type 53, Autosomal Recessive
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Woodhouse-Sakati Syndrome	Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome Woodhouse Sakati Syndrome Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome WDSKS Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome Neuroectodermal Endocrine Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities Wss
Multiple Personality Disorder	Dissociative Identity Disorder Multiple Personality
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Spastic Diplegia	Diplegic Infantile Cerebral Palsy Little'S Disease Cerebral Palsy Cerebral Spastic Infantile Paralysis Infantile Diplegic Cerebral Palsy Infantile Spastic Cerebral Palsy Littles Disease Spastic Cerebral Palsy
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Mednik Syndrome Erythrokeratodermia Variabilis 3 MEDNIK Ekv3 Erythrokeratodermia Variabilis, Kamouraska Type Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma Erythrokeratodermia Variabilis Kamouraska Type Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma
Spastic Cerebral Palsy	Palsy, Cerebral, Spastic Infantile Hemiplegia Nos Postnatal Infantile Hemiplegia Nos Congenital Spastic Hemiplegia Spastic Hemiplegic Cerebral Palsy Congenital Hemiplegia Nos Hemiplegic Cerebral Palsy Hemiplegic Infantile Cerebral Palsy
Spastic Paraplegia 2, X-Linked	SPG2 Hereditary Spastic Paraplegia 2 Sppx2 Spastic Paraplegia Type 2 Spastic Paraplegia 2 Hereditary X-Linked Recessive Spastic Paraplegia X-Linked Spastic Paraplegia 2 X Linked Recessive Hereditary Spastic Paraplegia Spastic Gait Type 2 Spastic Paraparesis Type 2 X-Linked Spastic Paraplegia Type 2 Spastic Paraplegia Type 2, X-Linked Spastic Paraplegia-2 Paraplegia, Spastic, Type 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS00798	AP4M1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	AP4M1	VGNC	VGNC:37970
Macaca mulatta	AP4M1	VGNC	VGNC:69974
Felis catus	AP4M1	VGNC	VGNC:67732
Bos taurus	AP4M1	VGNC	VGNC:25993
Mus musculus	AP4M1	MGD	MGI:1337063
Rattus norvegicus	AP4M1	RGD	RGD:1310233
Others	AP4M1	NCBI