AP4B1

GENERAL INFORMATION

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Gene name

AP4B1

Gene description

Adaptor-related protein complex 4, beta 1 subunit

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic staining.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 3 antibodies.
HPA028162 , HPA028399 , HPA028652
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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

Skin



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

AP4B1 (HGNC Symbol)

Synonyms

BETA-4, SPG47

Description

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

Entrez gene summary

This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Chromosome

1

Cytoband

p13.2

Chromosome location (bp)

113894748 - 113905201

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000134262 (version 78.38)

Entrez gene

10717

UniProt

Q9Y6B7 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y6B7

Antibodypedia

AP4B1 antibodies


PROTEIN BROWSER

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ENST00000256658
 
ENST00000369564
 
ENST00000369567
 
ENST00000369569
 
ENST00000369571
 
ENST00000432415
 
 
 
 


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)

AP4B1-001 ENSP00000256658
ENST00000256658
Q9Y6B7
Show all »
Show » Show » 739 83.3 No 0
AP4B1-002 ENSP00000358580
ENST00000369567
B1ALD0
Show all »
Show » Show » 571 64.6 No 0
AP4B1-005 ENSP00000358577
ENST00000369564
B1ALD1
Show all »
Show » Show » 296 33.6 No 0
AP4B1-007 ENSP00000358584
ENST00000369571
B1ALD2
Show all »
Show » Show » 262 29.6 No 0
AP4B1-008 ENSP00000393622
ENST00000432415
B1ALD3
Show all »
Show » Show » 175 20.2 No 0
AP4B1-009 ENSP00000358582
ENST00000369569
Q9Y6B7
Show all »
Show » Show » 739 83.3 No 0