AP4E1 - adaptor related protein complex 4 subunit epsilon 1 Gene

Also Known as CPSQ4; SPG51; STUT1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23431

About AP4E1

Cytogenetic location: 15q21.2 Genomic coordinates (GRCh38): 15:50,907,492-51,005,895 (from NCBI)

This gene has 7 transcripts (splice variants), 204 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in lymph node (RPKM 2.9), testis (RPKM 2.9) and 25 other tissues.

Summary

This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

AP4E1 Products (2)

mRNA	Protein	Name
NM_001252127.2	NP_001239056.1	AP-4 complex subunit epsilon-1 isoform 2
NM_007347.5	NP_031373.2	AP-4 complex subunit epsilon-1 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	26496610	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of AP-4 adaptor complex	IDA IDA: Inferred from direct assay	10066790	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

AP4E1 Protein Structure

Adaptin_N

AP4E_app_platf

0
200
400
600
800
1000
1137 a.a.

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

AP4E1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	AP4E1	Q9UPM8	TEPSIN	Homo sapiens	Q96N21	Anti Tag CoIP	26496610
Intra	AP4E1	Q9UPM8	TEPSIN	Homo sapiens	Q96N21	Y2H	32073997

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Hereditary Spastic Paraplegia 51	Autosomal Dominant Spastic Paraplegia 51 Cpsq4 Spastic Quadriplegic Cerebral Palsy 4 Spg51 Spastic Paraplegia 51, Autosomal Recessive
Stuttering	Stammering Familial Persistent Stuttering Stuttering, Familial Persistent 1
Congenital Disorder Of Glycosylation, Type Ig	CDG1G Alg12-Congenital Disorder Of Glycosylation Cdg Ig Congenital Disorder Of Glycosylation Type 1g Congenital Disorder Of Glycosylation Type Ig Cdgig Congenital Disorder Of Glycosylation Ig Congenital Disorder Of Glycosylation 1g Cdg-Ig Alg12-Cdg Cdg Syndrome Type Ig Carbohydrate Deficient Glycoprotein Syndrome Type Ig Mannosyltransferase 8 Deficiency Glycosylation, Congenital Disorder Of, Type Ig
Spastic Paraplegia 52, Autosomal Recessive	SPG52 Hereditary Spastic Paraplegia 52 Cpsq6 Cerebral Palsy, Spastic Quadriplegic, 6, Formerly Cpsq6, Formerly Autosomal Recessive Spastic Paraplegia 52 Spastic Quadriplegic Cerebral Palsy 6 Cerebral Palsy, Spastic Quadriplegic 6
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
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
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
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Articulation Disorder	Phonological Disorder Articulation Disorders Articulation Impairment Speech Sound Disorders
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
Spastic Paraplegia 79, Autosomal Recessive	Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome SPG79 Neurodegeneration With Optic Atrophy, Childhood-Onset Ndgoa Hereditary Spastic Paraplegia 79 Spastic Paraplegia 79 Autosomal Recessive Doid:0112344 Neurodegeneration, With Optic Atrophy, Childhood-Onset
Hereditary Spastic Paraplegia 49	Autosomal Recessive Spastic Paraplegia Type 49 Autosomal Recessive Spastic Paraplegia 49 Spg49 Paraplegia, Spastic, Type 49, Autosomal Recessive
Speech Disorder	Speech Disorders
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 45, Autosomal Recessive	SPG45 Hereditary Spastic Paraplegia 45 Autosomal Recessive Spastic Paraplegia Type 45 Autosomal Recessive Spastic Paraplegia Type 65 Spg65 Autosomal Recessive Spastic Paraplegia 45 Paraplegia, Spastic, Type 45, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive	SPG9B Autosomal Recessive Complex Spastic Paraplegia Type 9b Hereditary Spastic Paraplegia 9b Autosomal Recessive Spastic Paraplegia 9b Autosomal Recessive Spastic Paraplegia Type 9b Ar-Spg9b
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
Spastic Hemiplegia	Spastic Hemiplegic Cerebral Palsy Hemiplegic Cerebral Palsy Congenital Hemiplegia Hemiplegic Infantile Cerebral Palsy Cerebral Palsy Spastic Hemiplegic Spastic Hemiplegia Cerebral Palsy Hemiplegia, Spastic
Spastic Paraplegia 10, Autosomal Dominant	SPG10 Hereditary Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Type 10 Spastic Paraplegia 10 Spastic Paraplegia 10 With Or Without Peripheral Neuropathy Autosomal Dominant Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Spastic Paraplegia, Autosomal Dominant Paraplegia, Spastic, Autosomal Dominant, Type 10
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
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

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-RS00797	AP4E1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	AP4E1	VGNC	VGNC:69973
Felis catus	AP4E1	VGNC	VGNC:81042
Mus musculus	AP4E1	MGD	MGI:1336993
Rattus norvegicus	AP4E1	RGD	RGD:1562199
Bos taurus	AP4E1	VGNC	VGNC:25992
Canis familiaris	AP4E1	VGNC	VGNC:37969
Others	AP4E1	NCBI