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UniProtKB - O00203 (AP3B1_HUMAN)

Protein

AP-3 complex subunit beta-1

Gene

AP3B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.

GO - Molecular functioni

  • GTP-dependent protein binding Source: ParkinsonsUK-UCL
  • protein phosphatase binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-6802952 Signaling by BRAF and RAF fusions

Names & Taxonomyi

Protein namesi
Recommended name:
AP-3 complex subunit beta-1
Alternative name(s):
Adaptor protein complex AP-3 subunit beta-1
Adaptor-related protein complex 3 subunit beta-1
Beta-3A-adaptin
Clathrin assembly protein complex 3 beta-1 large chain
Gene namesi
Name:AP3B1
Synonyms:ADTB3A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000132842.13
HGNCiHGNC:566 AP3B1
MIMi603401 gene
neXtProtiNX_O00203

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasmic vesicle, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Hermansky-Pudlak syndrome 2 (HPS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections.
See also OMIM:608233
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_011595390 – 410Missing in HPS2. 1 PublicationAdd BLAST21
Natural variantiVAR_011596580L → R in HPS2. 1 PublicationCorresponds to variant dbSNP:rs121908904EnsemblClinVar.1

Keywords - Diseasei

Albinism, Disease mutation, Hermansky-Pudlak syndrome

Organism-specific databases

DisGeNETi8546
GeneReviewsiAP3B1
MalaCardsiAP3B1
MIMi203300 phenotype
608233 phenotype
OpenTargetsiENSG00000132842
Orphaneti183678 Hermansky-Pudlak syndrome with neutropenia
PharmGKBiPA24857

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001937461 – 1094AP-3 complex subunit beta-1Add BLAST1094

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei276PhosphoserineCombined sources1
Modified residuei609PhosphoserineCombined sources1
Modified residuei750PhosphoserineCombined sources1
Modified residuei752PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated on serine residues.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO00203
MaxQBiO00203
PaxDbiO00203
PeptideAtlasiO00203
PRIDEiO00203
ProteomicsDBi47775

PTM databases

iPTMnetiO00203
PhosphoSitePlusiO00203
SwissPalmiO00203

Expressioni

Tissue specificityi

Ubiquitously expressed.2 Publications

Gene expression databases

BgeeiENSG00000132842 Expressed in 224 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_AP3B1
ExpressionAtlasiO00203 baseline and differential
GenevisibleiO00203 HS

Organism-specific databases

HPAiHPA038737
HPA045458

Interactioni

Subunit structurei

AP-3 associates with the BLOC-1 complex (By similarity). Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2).By similarity

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi114116, 69 interactors
CORUMiO00203
DIPiDIP-24208N
ELMiO00203
IntActiO00203, 20 interactors
MINTiO00203
STRINGi9606.ENSP00000255194

Structurei

3D structure databases

ProteinModelPortaliO00203
SMRiO00203
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi677 – 802Glu/Ser-richAdd BLAST126

Sequence similaritiesi

Belongs to the adaptor complexes large subunit family.Curated

Phylogenomic databases

eggNOGiKOG1060 Eukaryota
COG5096 LUCA
GeneTreeiENSGT00530000063546
HOGENOMiHOG000033978
HOVERGENiHBG050519
InParanoidiO00203
KOiK12397
OMAiWHLAPKS
OrthoDBiEOG091G01OB
PhylomeDBiO00203
TreeFamiTF314605

Family and domain databases

InterProiView protein in InterPro
IPR026740 AP3_beta
IPR029394 AP3B1_Ser
IPR029390 AP3B_C
IPR026739 AP_beta
IPR016024 ARM-type_fold
IPR015151 B-adaptin_app_sub_C
IPR002553 Clathrin/coatomer_adapt-like_N
PANTHERiPTHR11134 PTHR11134, 1 hit
PfamiView protein in Pfam
PF01602 Adaptin_N, 1 hit
PF14796 AP3B1_C, 1 hit
PF14797 SEEEED, 1 hit
PIRSFiPIRSF037096 AP3_complex_beta, 1 hit
SMARTiView protein in SMART
SM01355 AP3B1_C, 1 hit
SM01020 B2-adapt-app_C, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: O00203-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSSNSFPYNE QSGGGEATEL GQEATSTISP SGAFGLFSSD LKKNEDLKQM 
        60         70         80         90        100
LESNKDSAKL DAMKRIVGMI AKGKNASELF PAVVKNVASK NIEIKKLVYV 
       110        120        130        140        150
YLVRYAEEQQ DLALLSISTF QRALKDPNQL IRASALRVLS SIRVPIIVPI 
       160        170        180        190        200
MMLAIKEASA DLSPYVRKNA AHAIQKLYSL DPEQKEMLIE VIEKLLKDKS 
       210        220        230        240        250
TLVAGSVVMA FEEVCPDRID LIHKNYRKLC NLLVDVEEWG QVVIIHMLTR 
       260        270        280        290        300
YARTQFVSPW KEGDELEDNG KNFYESDDDQ KEKTDKKKKP YTMDPDHRLL 
       310        320        330        340        350
IRNTKPLLQS RNAAVVMAVA QLYWHISPKS EAGIISKSLV RLLRSNREVQ 
       360        370        380        390        400
YIVLQNIATM SIQRKGMFEP YLKSFYVRST DPTMIKTLKL EILTNLANEA 
       410        420        430        440        450
NISTLLREFQ TYVKSQDKQF AAATIQTIGR CATNILEVTD TCLNGLVCLL 
       460        470        480        490        500
SNRDEIVVAE SVVVIKKLLQ MQPAQHGEII KHMAKLLDSI TVPVARASIL 
       510        520        530        540        550
WLIGENCERV PKIAPDVLRK MAKSFTSEDD LVKLQILNLG AKLYLTNSKQ 
       560        570        580        590        600
TKLLTQYILN LGKYDQNYDI RDRTRFIRQL IVPNVKSGAL SKYAKKIFLA 
       610        620        630        640        650
QKPAPLLESP FKDRDHFQLG TLSHTLNIKA TGYLELSNWP EVAPDPSVRN 
       660        670        680        690        700
VEVIELAKEW TPAGKAKQEN SAKKFYSESE EEEDSSDSSS DSESESGSES 
       710        720        730        740        750
GEQGESGEEG DSNEDSSEDS SSEQDSESGR ESGLENKRTA KRNSKAKGKS 
       760        770        780        790        800
DSEDGEKENE KSKTSDSSND ESSSIEDSSS DSESESEPES ESESRRVTKE 
       810        820        830        840        850
KEKKTKQDRT PLTKDVSLLD LDDFNPVSTP VALPTPALSP SLMADLEGLH 
       860        870        880        890        900
LSTSSSVISV STPAFVPTKT HVLLHRMSGK GLAAHYFFPR QPCIFGDKMV 
       910        920        930        940        950
SIQITLNNTT DRKIENIHIG EKKLPIGMKM HVFNPIDSLE PEGSITVSMG 
       960        970        980        990       1000
IDFCDSTQTA SFQLCTKDDC FNVNIQPPVG ELLLPVAMSE KDFKKEQGVL 
      1010       1020       1030       1040       1050
TGMNETSAVI IAAPQNFTPS VIFQKVVNVA NVGAVPSGQD NIHRFAAKTV 
      1060       1070       1080       1090 
HSGSLMLVTV ELKEGSTAQL IINTEKTVIG SVLLRELKPV LSQG
Length:1,094
Mass (Da):121,320
Last modified:July 28, 2009 - v3
Checksum:iAC683CE18EF90555
GO
Isoform 2 (identifier: O00203-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: Missing.

Note: No experimental confirmation available.
Show »
Length:1,045
Mass (Da):116,195
Checksum:i28C0DFA3E2603570
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YBD0H0YBD0_HUMAN
AP-3 complex subunit beta-1
AP3B1
154Annotation score:

Sequence cautioni

The sequence CAD97982 differs from that shown. Wrong choice of CDS.Curated
The sequence CAD97982 differs from that shown. Reason: Frameshift at position 1011.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti168K → R in CAD97982 (PubMed:17974005).Curated1
Sequence conflicti379S → P in CAD97982 (PubMed:17974005).Curated1
Sequence conflicti804Missing in AAD03778 (PubMed:9151686).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_011595390 – 410Missing in HPS2. 1 PublicationAdd BLAST21
Natural variantiVAR_011596580L → R in HPS2. 1 PublicationCorresponds to variant dbSNP:rs121908904EnsemblClinVar.1
Natural variantiVAR_058404585V → ECombined sources4 PublicationsCorresponds to variant dbSNP:rs6453373EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0547081 – 49Missing in isoform 2. 1 PublicationAdd BLAST49

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U91931 mRNA Translation: AAD03778.1
U81504 mRNA Translation: AAB61638.1
BX538041 mRNA Translation: CAD97982.1 Sequence problems.
AC024568 Genomic DNA No translation available.
AC024578 Genomic DNA No translation available.
AC104108 Genomic DNA No translation available.
AC112197 Genomic DNA No translation available.
BC038444 mRNA Translation: AAH38444.1
AF247736 Genomic DNA Translation: AAG01739.1
CCDSiCCDS4041.1 [O00203-1]
CCDS64186.1 [O00203-3]
PIRiT50651
T50652
RefSeqiNP_001258698.1, NM_001271769.1 [O00203-3]
NP_003655.3, NM_003664.4 [O00203-1]
UniGeneiHs.532091

Genome annotation databases

EnsembliENST00000255194; ENSP00000255194; ENSG00000132842 [O00203-1]
ENST00000519295; ENSP00000430597; ENSG00000132842 [O00203-3]
GeneIDi8546
KEGGihsa:8546
UCSCiuc003kfj.5 human [O00203-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Web resourcesi

AP3B1base

AP3B1 mutation db

Mutations of the ADTB3A gene

Retina International's Scientific Newsletter

Albinism database (ADB)

AP3B1 mutations

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U91931 mRNA Translation: AAD03778.1
U81504 mRNA Translation: AAB61638.1
BX538041 mRNA Translation: CAD97982.1 Sequence problems.
AC024568 Genomic DNA No translation available.
AC024578 Genomic DNA No translation available.
AC104108 Genomic DNA No translation available.
AC112197 Genomic DNA No translation available.
BC038444 mRNA Translation: AAH38444.1
AF247736 Genomic DNA Translation: AAG01739.1
CCDSiCCDS4041.1 [O00203-1]
CCDS64186.1 [O00203-3]
PIRiT50651
T50652
RefSeqiNP_001258698.1, NM_001271769.1 [O00203-3]
NP_003655.3, NM_003664.4 [O00203-1]
UniGeneiHs.532091

3D structure databases

ProteinModelPortaliO00203
SMRiO00203
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114116, 69 interactors
CORUMiO00203
DIPiDIP-24208N
ELMiO00203
IntActiO00203, 20 interactors
MINTiO00203
STRINGi9606.ENSP00000255194

PTM databases

iPTMnetiO00203
PhosphoSitePlusiO00203
SwissPalmiO00203

Proteomic databases

EPDiO00203
MaxQBiO00203
PaxDbiO00203
PeptideAtlasiO00203
PRIDEiO00203
ProteomicsDBi47775

Protocols and materials databases

DNASUi8546
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000255194; ENSP00000255194; ENSG00000132842 [O00203-1]
ENST00000519295; ENSP00000430597; ENSG00000132842 [O00203-3]
GeneIDi8546
KEGGihsa:8546
UCSCiuc003kfj.5 human [O00203-1]

Organism-specific databases

CTDi8546
DisGeNETi8546
EuPathDBiHostDB:ENSG00000132842.13
GeneCardsiAP3B1
GeneReviewsiAP3B1
HGNCiHGNC:566 AP3B1
HPAiHPA038737
HPA045458
MalaCardsiAP3B1
MIMi203300 phenotype
603401 gene
608233 phenotype
neXtProtiNX_O00203
OpenTargetsiENSG00000132842
Orphaneti183678 Hermansky-Pudlak syndrome with neutropenia
PharmGKBiPA24857
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1060 Eukaryota
COG5096 LUCA
GeneTreeiENSGT00530000063546
HOGENOMiHOG000033978
HOVERGENiHBG050519
InParanoidiO00203
KOiK12397
OMAiWHLAPKS
OrthoDBiEOG091G01OB
PhylomeDBiO00203
TreeFamiTF314605

Enzyme and pathway databases

ReactomeiR-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-6802952 Signaling by BRAF and RAF fusions

Miscellaneous databases

ChiTaRSiAP3B1 human
GeneWikiiAP3B1
GenomeRNAii8546
PROiPR:O00203
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000132842 Expressed in 224 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_AP3B1
ExpressionAtlasiO00203 baseline and differential
GenevisibleiO00203 HS

Family and domain databases

InterProiView protein in InterPro
IPR026740 AP3_beta
IPR029394 AP3B1_Ser
IPR029390 AP3B_C
IPR026739 AP_beta
IPR016024 ARM-type_fold
IPR015151 B-adaptin_app_sub_C
IPR002553 Clathrin/coatomer_adapt-like_N
PANTHERiPTHR11134 PTHR11134, 1 hit
PfamiView protein in Pfam
PF01602 Adaptin_N, 1 hit
PF14796 AP3B1_C, 1 hit
PF14797 SEEEED, 1 hit
PIRSFiPIRSF037096 AP3_complex_beta, 1 hit
SMARTiView protein in SMART
SM01355 AP3B1_C, 1 hit
SM01020 B2-adapt-app_C, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAP3B1_HUMAN
AccessioniPrimary (citable) accession number: O00203
Secondary accession number(s): E5RJ68
, O00580, Q7Z393, Q9HD66
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: July 28, 2009
Last modified: November 7, 2018
This is version 179 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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