AP4E1 - adaptor related protein complex 4 subunit epsilon 1 Gene

Homo sapiens

Also known as CPSQ4; SPG51; STUT1

Gene ID: 23431 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00797	AP4E1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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