2. Gene
  3. AP4E1 - adaptor related protein complex 4 subunit epsilon 1 Gene

AP4E1 - adaptor related protein complex 4 subunit epsilon 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
26496610 GOA
Cellular Component GO Annotation Evidence Reference 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

Adaptin_N: Adaptin N terminal region (52 - 596)

AP4E_app_platf

AP4E_app_platf: Adaptin AP4 complex epsilon appendage platform (1032 - 1135)

  • 0
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  • 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 Reference
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
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