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AP3B1

GENERAL INFORMATION

Gene name

 AP3B1

Gene description

 Adaptor-related protein complex 3, beta 1 subunit

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Cytoplasmic and/or nuclear expression in most tissues.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA038737
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (favourable) and colorectal cancer (favourable).
Renal cancer p<0.001
Colorectal cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA038737

GENE INFORMATION

Gene name

 AP3B1 (HGNC Symbol)

Synonyms

 ADTB3A, HPS2

Description

 Adaptor-related protein complex 3, beta 1 subunit (HGNC Symbol)

Entrez gene summary

 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

Chromosome

 5

Cytoband

 q14.1

Chromosome location (bp)

 78000525 - 78294755

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000132842 (version 83.38)

Entrez gene

 8546

UniProt

 O00203 (UniProt - Evidence at protein level)

neXtProt

 NX_O00203

Antibodypedia

 AP3B1 antibodies

PROTEIN BROWSER
AP3B1-001
AP3B1-002
AP3B1-007

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
AP3B1-001
ENSP00000255194
ENST00000255194
O00203 [Direct mapping]
AP-3 complex subunit beta-1
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   MEMSAT3 predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0005488 [binding]
GO:0005765 [lysosomal membrane]
GO:0005794 [Golgi apparatus]
GO:0006622 [protein targeting to lysosome]
GO:0006886 [intracellular protein transport]
GO:0007596 [blood coagulation]
GO:0008089 [anterograde axon cargo transport]
GO:0016020 [membrane]
GO:0016192 [vesicle-mediated transport]
GO:0019882 [antigen processing and presentation]
GO:0019903 [protein phosphatase binding]
GO:0030117 [membrane coat]
GO:0030123 [AP-3 adaptor complex]
GO:0030131 [clathrin adaptor complex]
GO:0030665 [clathrin-coated vesicle membrane]
GO:0030742 [GTP-dependent protein binding]
GO:0032438 [melanosome organization]
GO:0048007 [antigen processing and presentation, exogenous lipid antigen via MHC class Ib]
GO:0048490 [anterograde synaptic vesicle transport]
GO:0051138 [positive regulation of NK T cell differentiation]
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 1094 aa
121.3 kDa 		No 0
AP3B1-002
ENSP00000430597
ENST00000519295
O00203 [Direct mapping]
AP-3 complex subunit beta-1
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   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005488 [binding]
GO:0005765 [lysosomal membrane]
GO:0005794 [Golgi apparatus]
GO:0006886 [intracellular protein transport]
GO:0008089 [anterograde axon cargo transport]
GO:0016020 [membrane]
GO:0016192 [vesicle-mediated transport]
GO:0019903 [protein phosphatase binding]
GO:0030117 [membrane coat]
GO:0030123 [AP-3 adaptor complex]
GO:0030131 [clathrin adaptor complex]
GO:0030665 [clathrin-coated vesicle membrane]
GO:0030742 [GTP-dependent protein binding]
GO:0032438 [melanosome organization]
GO:0048490 [anterograde synaptic vesicle transport]
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 1045 aa
116.2 kDa 		No 0
AP3B1-007
ENSP00000429228
ENST00000522901
H0YBD0 [Direct mapping]
AP-3 complex subunit beta-1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0016192 [vesicle-mediated transport]
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 154 aa
16.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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