AP4E1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Mixed
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Distinct expression in selected tissues, including small intestine and muscle cells.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA041749 , HPA041891
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

23431

UniProt

Q9UPM8 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UPM8

Antibodypedia

AP4E1 antibodies


PROTEIN BROWSER

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ENST00000261842
 
ENST00000560508
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AP4E1-001 ENSP00000261842
ENST00000261842
Q9UPM8
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Show » Show » 1137 127.3 No 0
AP4E1-002 ENSP00000452976
ENST00000560508
Q9UPM8
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Show » Show » 1062 119.5 No 0