UniProtKB - O00203 (AP3B1_HUMAN)
AP-3 complex subunit beta-1
AP3B1
Functioni
GO - Molecular functioni
- GTP-dependent protein binding Source: ParkinsonsUK-UCL
- protein phosphatase binding Source: UniProtKB
GO - Biological processi
- anterograde axonal transport Source: UniProtKB
- anterograde synaptic vesicle transport Source: UniProtKB
- antigen processing and presentation, exogenous lipid antigen via MHC class Ib Source: Ensembl
- blood coagulation Source: Ensembl
- cell morphogenesis Source: Ensembl
- cellular protein modification process Source: Ensembl
- cellular zinc ion homeostasis Source: Ensembl
- establishment of protein localization to mitochondrial membrane involved in mitochondrial fission Source: Ensembl
- granulocyte differentiation Source: Ensembl
- hematopoietic progenitor cell differentiation Source: Ensembl
- homeostasis of number of cells Source: Ensembl
- inflammatory response Source: Ensembl
- intracellular protein transport Source: ProtInc
- lung morphogenesis Source: Ensembl
- lysosome organization Source: Ensembl
- melanosome organization Source: UniProtKB
- mRNA transcription by RNA polymerase II Source: Ensembl
- platelet dense granule organization Source: Ensembl
- positive regulation of NK T cell differentiation Source: Ensembl
- positive regulation of transcription by RNA polymerase II Source: Ensembl
- protein localization to cell surface Source: Ensembl
- protein targeting to lysosome Source: Ensembl
- regulation of catalytic activity Source: Ensembl
- respiratory system process Source: Ensembl
- single fertilization Source: Ensembl
- skin epidermis development Source: Ensembl
- spermatogenesis Source: Ensembl
- synaptic vesicle budding from endosome Source: Ensembl
- toll-like receptor signaling pathway Source: Ensembl
- vesicle-mediated transport Source: GO_Central
Keywordsi
Biological process | Protein transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | O00203 |
Reactomei | R-HSA-432722, Golgi Associated Vesicle Biogenesis R-HSA-6802952, Signaling by BRAF and RAF fusions |
SIGNORi | O00203 |
Names & Taxonomyi
Protein namesi | Recommended name: AP-3 complex subunit beta-1Alternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:566, AP3B1 |
MIMi | 603401, gene |
neXtProti | NX_O00203 |
VEuPathDBi | HostDB:ENSG00000132842.13 |
Subcellular locationi
Golgi apparatus
- Golgi apparatus 1 Publication
Other locations
- clathrin-coated vesicle membrane 1 Publication; Peripheral membrane protein Curated; Cytoplasmic side Curated
Note: Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.1 Publication
Golgi apparatus
- Golgi apparatus Source: ProtInc
Lysosome
- lysosomal membrane Source: UniProtKB
Mitochondrion
- mitochondrion Source: GOC
Other locations
- AP-3 adaptor complex Source: InterPro
- axon cytoplasm Source: GOC
- clathrin adaptor complex Source: InterPro
- clathrin-coated vesicle membrane Source: UniProtKB-SubCell
- membrane Source: UniProtKB
- synapse Source: GOC
Keywords - Cellular componenti
Cytoplasmic vesicle, Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Hermansky-Pudlak syndrome 2 (HPS2)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_011595 | 390 – 410 | Missing in HPS2. 1 PublicationAdd BLAST | 21 | |
Natural variantiVAR_011596 | 580 | L → R in HPS2. 1 PublicationCorresponds to variant dbSNP:rs121908904EnsemblClinVar. | 1 |
Keywords - Diseasei
Albinism, Disease variant, Hermansky-Pudlak syndromeOrganism-specific databases
DisGeNETi | 8546 |
GeneReviewsi | AP3B1 |
MalaCardsi | AP3B1 |
MIMi | 203300, phenotype 608233, phenotype |
OpenTargetsi | ENSG00000132842 |
Orphaneti | 183678, Hermansky-Pudlak syndrome with neutropenia |
PharmGKBi | PA24857 |
Miscellaneous databases
Pharosi | O00203, Tbio |
Genetic variation databases
BioMutai | AP3B1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000193746 | 1 – 1094 | AP-3 complex subunit beta-1Add BLAST | 1094 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 276 | PhosphoserineCombined sources | 1 | |
Modified residuei | 609 | PhosphoserineCombined sources | 1 | |
Modified residuei | 750 | PhosphoserineCombined sources | 1 | |
Modified residuei | 752 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | O00203 |
jPOSTi | O00203 |
MassIVEi | O00203 |
MaxQBi | O00203 |
PaxDbi | O00203 |
PeptideAtlasi | O00203 |
PRIDEi | O00203 |
ProteomicsDBi | 16507 47775 [O00203-1] |
PTM databases
iPTMneti | O00203 |
MetOSitei | O00203 |
PhosphoSitePlusi | O00203 |
SwissPalmi | O00203 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000132842, Expressed in tendon of biceps brachii and 238 other tissues |
ExpressionAtlasi | O00203, baseline and differential |
Genevisiblei | O00203, HS |
Organism-specific databases
HPAi | ENSG00000132842, Low tissue specificity |
Interactioni
Subunit structurei
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) (Probable). AP-3 associates with the BLOC-1 complex (By similarity).
Interacts with KIF3A; interaction is direct; interaction is impaired by pyrophosphorylation of AP3B1 (PubMed:19934039).
By similarity1 Publication1 PublicationBinary interactionsi
Hide detailsO00203
Isoform 1 [O00203-1]
With | #Exp. | IntAct |
---|---|---|
ANK3 [Q12955] | 2 | EBI-15816315,EBI-2691178 |
KIF3A [Q9Y496] | 5 | EBI-15816315,EBI-1104844 |
GO - Molecular functioni
- GTP-dependent protein binding Source: ParkinsonsUK-UCL
- protein phosphatase binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 114116, 99 interactors |
ComplexPortali | CPX-5051, Ubiquitous AP-3 Adaptor complex, sigma3a variant CPX-5052, Ubiquitous AP-3 Adaptor complex, sigma3b variant |
CORUMi | O00203 |
DIPi | DIP-24208N |
ELMi | O00203 |
IntActi | O00203, 53 interactors |
MINTi | O00203 |
STRINGi | 9606.ENSP00000255194 |
Miscellaneous databases
RNActi | O00203, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 677 – 802 | Glu/Ser-richAdd BLAST | 126 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1060, Eukaryota |
GeneTreei | ENSGT00940000157603 |
HOGENOMi | CLU_006320_3_1_1 |
InParanoidi | O00203 |
OMAi | ASSNEWK |
PhylomeDBi | O00203 |
TreeFami | TF314605 |
Family and domain databases
InterProi | View 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 |
PANTHERi | PTHR11134, PTHR11134, 1 hit |
Pfami | View protein in Pfam PF01602, Adaptin_N, 1 hit PF14796, AP3B1_C, 1 hit PF14797, SEEEED, 1 hit |
PIRSFi | PIRSF037096, AP3_complex_beta, 1 hit |
SMARTi | View protein in SMART SM01355, AP3B1_C, 1 hit SM01020, B2-adapt-app_C, 1 hit |
SUPFAMi | SSF48371, SSF48371, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH0YBD0 | H0YBD0_HUMAN | AP-3 complex subunit beta-1 | AP3B1 | 154 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 168 | K → R in CAD97982 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 379 | S → P in CAD97982 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 804 | Missing in AAD03778 (PubMed:9151686).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_011595 | 390 – 410 | Missing in HPS2. 1 PublicationAdd BLAST | 21 | |
Natural variantiVAR_011596 | 580 | L → R in HPS2. 1 PublicationCorresponds to variant dbSNP:rs121908904EnsemblClinVar. | 1 | |
Natural variantiVAR_058404 | 585 | V → ECombined sources4 PublicationsCorresponds to variant dbSNP:rs6453373EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054708 | 1 – 49 | Missing in isoform 2. 1 PublicationAdd BLAST | 49 |
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 |
CCDSi | CCDS4041.1 [O00203-1] CCDS64186.1 [O00203-3] |
PIRi | T50651 T50652 |
RefSeqi | NP_001258698.1, NM_001271769.1 [O00203-3] NP_003655.3, NM_003664.4 [O00203-1] |
Genome annotation databases
Ensembli | ENST00000255194; ENSP00000255194; ENSG00000132842 [O00203-1] ENST00000519295; ENSP00000430597; ENSG00000132842 [O00203-3] |
GeneIDi | 8546 |
KEGGi | hsa:8546 |
UCSCi | uc003kfj.5, human [O00203-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS4041.1 [O00203-1] CCDS64186.1 [O00203-3] |
PIRi | T50651 T50652 |
RefSeqi | NP_001258698.1, NM_001271769.1 [O00203-3] NP_003655.3, NM_003664.4 [O00203-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 114116, 99 interactors |
ComplexPortali | CPX-5051, Ubiquitous AP-3 Adaptor complex, sigma3a variant CPX-5052, Ubiquitous AP-3 Adaptor complex, sigma3b variant |
CORUMi | O00203 |
DIPi | DIP-24208N |
ELMi | O00203 |
IntActi | O00203, 53 interactors |
MINTi | O00203 |
STRINGi | 9606.ENSP00000255194 |
PTM databases
iPTMneti | O00203 |
MetOSitei | O00203 |
PhosphoSitePlusi | O00203 |
SwissPalmi | O00203 |
Genetic variation databases
BioMutai | AP3B1 |
Proteomic databases
EPDi | O00203 |
jPOSTi | O00203 |
MassIVEi | O00203 |
MaxQBi | O00203 |
PaxDbi | O00203 |
PeptideAtlasi | O00203 |
PRIDEi | O00203 |
ProteomicsDBi | 16507 47775 [O00203-1] |
Protocols and materials databases
Antibodypediai | 24502, 138 antibodies |
DNASUi | 8546 |
Genome annotation databases
Ensembli | ENST00000255194; ENSP00000255194; ENSG00000132842 [O00203-1] ENST00000519295; ENSP00000430597; ENSG00000132842 [O00203-3] |
GeneIDi | 8546 |
KEGGi | hsa:8546 |
UCSCi | uc003kfj.5, human [O00203-1] |
Organism-specific databases
CTDi | 8546 |
DisGeNETi | 8546 |
GeneCardsi | AP3B1 |
GeneReviewsi | AP3B1 |
HGNCi | HGNC:566, AP3B1 |
HPAi | ENSG00000132842, Low tissue specificity |
MalaCardsi | AP3B1 |
MIMi | 203300, phenotype 603401, gene 608233, phenotype |
neXtProti | NX_O00203 |
OpenTargetsi | ENSG00000132842 |
Orphaneti | 183678, Hermansky-Pudlak syndrome with neutropenia |
PharmGKBi | PA24857 |
VEuPathDBi | HostDB:ENSG00000132842.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1060, Eukaryota |
GeneTreei | ENSGT00940000157603 |
HOGENOMi | CLU_006320_3_1_1 |
InParanoidi | O00203 |
OMAi | ASSNEWK |
PhylomeDBi | O00203 |
TreeFami | TF314605 |
Enzyme and pathway databases
PathwayCommonsi | O00203 |
Reactomei | R-HSA-432722, Golgi Associated Vesicle Biogenesis R-HSA-6802952, Signaling by BRAF and RAF fusions |
SIGNORi | O00203 |
Miscellaneous databases
BioGRID-ORCSi | 8546, 56 hits in 1004 CRISPR screens |
ChiTaRSi | AP3B1, human |
GeneWikii | AP3B1 |
GenomeRNAii | 8546 |
Pharosi | O00203, Tbio |
PROi | PR:O00203 |
RNActi | O00203, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000132842, Expressed in tendon of biceps brachii and 238 other tissues |
ExpressionAtlasi | O00203, baseline and differential |
Genevisiblei | O00203, HS |
Family and domain databases
InterProi | View 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 |
PANTHERi | PTHR11134, PTHR11134, 1 hit |
Pfami | View protein in Pfam PF01602, Adaptin_N, 1 hit PF14796, AP3B1_C, 1 hit PF14797, SEEEED, 1 hit |
PIRSFi | PIRSF037096, AP3_complex_beta, 1 hit |
SMARTi | View protein in SMART SM01355, AP3B1_C, 1 hit SM01020, B2-adapt-app_C, 1 hit |
SUPFAMi | SSF48371, SSF48371, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AP3B1_HUMAN | |
Accessioni | O00203Primary (citable) accession number: O00203 Secondary accession number(s): E5RJ68 Q9HD66 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 26, 2001 |
Last sequence update: | July 28, 2009 | |
Last modified: | April 7, 2021 | |
This is version 198 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families