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AP4B1

GENERAL INFORMATION

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

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

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression with a granular pattern.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA028652
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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

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

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

 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 83.38)

Entrez gene

 10717

UniProt

 Q9Y6B7 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9Y6B7

Antibodypedia

 AP4B1 antibodies

PROTEIN BROWSER
AP4B1-001
AP4B1-002
AP4B1-005
AP4B1-007
AP4B1-008
AP4B1-009

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
AP4B1-001
ENSP00000256658
ENST00000256658
Q9Y6B7 [Direct mapping]
AP-4 complex subunit beta-1
A0A024R0D2 [Target identity:100%; Query identity:100%]
AP complex subunit beta
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005215 [transporter activity]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005802 [trans-Golgi network]
GO:0005905 [coated pit]
GO:0006886 [intracellular protein transport]
GO:0006892 [post-Golgi vesicle-mediated transport]
GO:0008565 [protein transporter activity]
GO:0015031 [protein transport]
GO:0016192 [vesicle-mediated transport]
GO:0030117 [membrane coat]
GO:0030131 [clathrin adaptor complex]
GO:0031904 [endosome lumen]
GO:0032588 [trans-Golgi network membrane]
GO:0061024 [membrane organization]
Show all
 739 aa
83.3 kDa 		No 0
AP4B1-002
ENSP00000358580
ENST00000369567
B1ALD0 [Direct mapping]
AP complex subunit beta
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005488 [binding]
GO:0006886 [intracellular protein transport]
GO:0008565 [protein transporter activity]
GO:0015031 [protein transport]
GO:0016192 [vesicle-mediated transport]
GO:0030117 [membrane coat]
GO:0030131 [clathrin adaptor complex]
Show all
 571 aa
64.6 kDa 		No 0
AP4B1-005
ENSP00000358577
ENST00000369564
B1ALD1 [Direct mapping]
AP-4 complex subunit beta-1
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005488 [binding]
GO:0006886 [intracellular protein transport]
GO:0016192 [vesicle-mediated transport]
GO:0030117 [membrane coat]
Show all
 296 aa
33.6 kDa 		No 0
AP4B1-007
ENSP00000358584
ENST00000369571
B1ALD2 [Direct mapping]
AP-4 complex subunit beta-1
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005488 [binding]
GO:0006886 [intracellular protein transport]
GO:0016192 [vesicle-mediated transport]
GO:0030117 [membrane coat]
Show all
 262 aa
29.6 kDa 		No 0
AP4B1-008
ENSP00000393622
ENST00000432415
B1ALD3 [Direct mapping]
AP-4 complex subunit beta-1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005488 [binding]
GO:0006886 [intracellular protein transport]
GO:0016192 [vesicle-mediated transport]
GO:0030117 [membrane coat]
Show all
 175 aa
20.2 kDa 		No 0
AP4B1-009
ENSP00000358582
ENST00000369569
Q9Y6B7 [Direct mapping]
AP-4 complex subunit beta-1
A0A024R0D2 [Target identity:100%; Query identity:100%]
AP complex subunit beta
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005215 [transporter activity]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005802 [trans-Golgi network]
GO:0005905 [coated pit]
GO:0006886 [intracellular protein transport]
GO:0006892 [post-Golgi vesicle-mediated transport]
GO:0008565 [protein transporter activity]
GO:0015031 [protein transport]
GO:0016192 [vesicle-mediated transport]
GO:0030117 [membrane coat]
GO:0030131 [clathrin adaptor complex]
GO:0031904 [endosome lumen]
GO:0032588 [trans-Golgi network membrane]
GO:0061024 [membrane organization]
Show all
 739 aa
83.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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