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AP4E1

GENERAL INFORMATION

Gene name

 AP4E1

Gene description

 Adaptor-related protein complex 4, epsilon 1 subunit

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Granular cytoplasmic expression in several tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 2 antibodies.
HPA041749 , HPA041891
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Duodenum

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 AP4E1 (HGNC Symbol)

Synonyms

 AP-4-EPSILON, SPG51

Description

 Adaptor-related protein complex 4, epsilon 1 subunit (HGNC Symbol)

Entrez gene 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]

Chromosome

 15

Cytoband

 q21.2

Chromosome location (bp)

 50908672 - 51005900

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000081014 (version 83.38)

Entrez gene

 23431

UniProt

 Q9UPM8 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9UPM8

Antibodypedia

 AP4E1 antibodies

PROTEIN BROWSER
AP4E1-001
AP4E1-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
AP4E1-001
ENSP00000261842
ENST00000261842
Q9UPM8 [Direct mapping]
AP-4 complex subunit epsilon-1
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   THUMBUP predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005488 [binding]
GO:0005905 [coated pit]
GO:0006886 [intracellular protein transport]
GO:0006892 [post-Golgi vesicle-mediated transport]
GO:0016192 [vesicle-mediated transport]
GO:0030117 [membrane coat]
GO:0031904 [endosome lumen]
GO:0032588 [trans-Golgi network membrane]
GO:0061024 [membrane organization]
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 1137 aa
127.3 kDa 		No 0
AP4E1-002
ENSP00000452976
ENST00000560508
Q9UPM8 [Direct mapping]
AP-4 complex subunit epsilon-1
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   THUMBUP predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005488 [binding]
GO:0005905 [coated pit]
GO:0006886 [intracellular protein transport]
GO:0006892 [post-Golgi vesicle-mediated transport]
GO:0016192 [vesicle-mediated transport]
GO:0030117 [membrane coat]
GO:0031904 [endosome lumen]
GO:0032588 [trans-Golgi network membrane]
GO:0061024 [membrane organization]
Show all
 1062 aa
119.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.