AP3B1 Gene
protein-coding GIFtS: 64
GCID: GC05M077296
|
|
adaptor-related protein complex 3, beta 1 subunit
| |
Aliases
for AP3B1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Adaptor-Related Protein Complex 3, Beta 1 Subunit1 2 | | PE2 | | ADTB3A1 2 3 5 | | AP-3 Complex Beta-3A Subunit2 | | HPS21 2 5 | | AP-3 Complex Subunit Beta-12 | | Adaptor Protein Complex AP-3 Subunit Beta-12 3 | | Beta-3A-Adaptin1 | | Clathrin Assembly Protein Complex 3 Beta-1 Large Chain2 3 | | Beta3A-Adaptin1 | | ADTB32 | | Beta-3A-Adaptin1 | | HPS2 | | Adapter-Related Protein Complex 3 Subunit Beta-13 |
Export aliases for AP3B1 gene to outside databasesPrevious GC identifers: GC05M076103 GC05M077532 GC05M077336 GC05M077383 GC05M077384 GC05M077333 GC05M072504 |
Summaries
for AP3B1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for AP3B1:
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet densegranules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts withthe scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Twotranscript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Nov 2012)
UniProtKB/Swiss-Prot: AP3B1_HUMAN, O00203Function: Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role inprotein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both therecruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails oftransmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteinstargeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to targetcargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals
Gene Wiki entry for AP3B1
|
Genomic Views
for AP3B1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000005.9 NC_018916.1 NT_006713.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the AP3B1 gene promoter:
AhR Sox5 Nkx2-5 Arnt HNF-4alpha1 FOXO1a ZIC2/Zic2 FOXO1 ATF
Other transcription factors
Search SABiosciences Chromatin IP Primers for AP3B1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AP3B1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 5q14.1 Ensembl cytogenetic band: 5q14.1 HGNC cytogenetic band: 5q14.1AP3B1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05M077296: view genomic region
(about GC identifiers)
Start:
|
77,296,349 bp from pter |
End:
|
77,590,579 bp from pter |
Size:
|
294,231 bases |
Orientation:
|
minus strand |
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Proteins
for AP3B1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: AP3B1_HUMAN, O00203 (See
protein sequence)Recommended Name: AP-3 complex subunit beta-1 Size: 1094 amino acids; 121320 Da
Subunit: AP-3 associates with the BLOC-1 complex (By similarity). Adaptor protein complex 3 (AP-3) is a heterotetramercomposed 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)
Subcellular location: Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membraneprotein; Cytoplasmic side (By similarity). Golgi apparatus (By similarity). Note=Component of the coat surrounding thecytoplasmic face of coated vesicles located at the Golgi complex (By similarity)
Secondary accessions: O00580 Q7Z393 Q9HD66Alternative splicing: 2 isoforms: O00203-1 O00203-2 (May be due to a competing donor splice site. No experimental confirmation available)Explore the universe of human proteins at neXtProt for AP3B1: NX_O00203
Post-translational modifications:
Phosphorylated on serine residues1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O00203
AP3B1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001258698.1 NP_003655.3
ENSEMBL proteins: ENSP00000255194 ENSP00000430597 ENSP00000429228 Reactome Protein details: O00203
Human Recombinant Protein Products for AP3B1:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
AP3B1 for ontologies About GeneDecksing
AP3B1 Antibody Products:
Assay Products for AP3B1: |
Protein
Domains /
Families
for AP3B1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
AP3B1 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O00203ProtoNet protein and cluster: O00203 1 Blocks protein family: IPB002553 Adaptin
UniProtKB/Swiss-Prot: AP3B1_HUMAN, O00203Similarity: Belongs to the adaptor complexes large subunit family |
Function
for AP3B1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: AP3B1_HUMAN, O00203Function: Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role inprotein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both therecruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails oftransmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteinstargeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to targetcargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
AP3B1 for ontologies About GeneDecksing
Phenotypes:
15/18 MGI mutant phenotypes (inferred from 17 alleles ) (MGI details for Ap3b1) (see all 18):
AP3B1 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Ap3b1tm1.1Sms for AP3B1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AP3B1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AP3B1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: AP3B1 (NM_003664) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AP3B1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP3B1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP3B1 |
|
Pathways & Interactions
for AP3B1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Clathrin derived vesicle budding | | | 2 | Membrane Trafficking | | | 3 | Lysosome | |
Pathway sources
See GeneCards unified pathways
Show all pathways
4 
Reactome Pathways for AP3B1
1 
Kegg Pathway (Kegg details for AP3B1):
AP3B1 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AP3B1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 17)
5/576 Interacting proteins for AP3B1 (O002032, 3 ENSP000002551944) via UniProtKB, MINT, STRING, and/or I2D (see all 576)About this table
Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table
AP3B1 for ontologies About GeneDecksing
|
Drugs & Compounds
for AP3B1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for AP3B1
Search CenterWatch for drugs/clinical trials and news about AP3B1
|
Transcripts
for AP3B1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for AP3B1 gene (2 alternative transcripts): NM_001271769.1 NM_003664.4 Unigene Cluster for AP3B1: Adaptor-related protein complex 3, beta 1 subunit Hs.532091 [show with all ESTs]Unigene Representative Sequence: NM_0012717698 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000255194(uc003kfj.3) ENST00000519295 ENST00000522901 ENST00000520122
ENST00000523204 ENST00000519888 ENST00000517940 ENST00000517561
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AP3B1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AP3B1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: AP3B1 (NM_003664) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AP3B1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP3B1 |
Additional cDNA sequence: AK225908.1 AK291201.1 AK303300.1 AY623424.1 BC020230.1 BC038444.1 BC113045.1 BX538041.1 U81504.1 U91931.1 8 DOTS entries: DT.415148 DT.75177354 DT.423287 DT.75103025 DT.75103026 DT.95122524 DT.120875558 DT.415149 24/218 AceView cDNA sequences (see all 218): CB164651 CA448588 BQ005667 BG319466 BQ270487 AW135530 CA448052 BM828668 AA594245 AI762214 CA413472 AI224874 CB155454 AW504067 CA422426 AW337990 AA715026 CD106761 AW770156 NM_003664 AI651128 CA449860 AI499303 AA421742
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for AP3B1 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ |
|---|
|
| SP1: | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for AP3B1
|
Expression
for AP3B1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| AP3B1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAATTATCTC
About this image
See AP3B1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AP3B1
SOURCE GeneReport for Unigene cluster: Hs.532091
UniProtKB/Swiss-Prot: AP3B1_HUMAN, O00203Tissue specificity: Ubiquitously expressed
SABiosciences Custom PCR Arrays for AP3B1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AP3B1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AP3B1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AP3B1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AP3B1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP3B1 |
Orthologs
for AP3B1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for AP3B1 gene from 9/28 species (see all 28) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Ap3b11 , 5 |
adaptor-related protein complex 3, beta 1 subunit1, 5 |
86.07(n)1
89.23(a)1 |
|
13 (49.22 cM)5
117741 NM_009680.31 NP_033810.21
943589605 |
chicken
(Gallus gallus) |
Aves |
AP3B11 |
adaptor-related protein complex 3, beta 1 subunit |
78.71(n)
83.13(a) |
|
427646 XM_003642955.1 XP_003643003.1 |
lizard
(Anolis carolinensis) |
Reptilia |
AP3B16 |
-- |
85(a) |
1 ↔ 1 |
2(13407083-13471731) |
African clawed frog
(Xenopus laevis) |
Amphibia |
BJ071341.12 |
-- |
75.28(n) |
|
BJ071341.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
CU929160.16CABZ01052431.16 |
-- |
72(a)62(a) |
possible ortholog1 ↔ 1 |
11(38410181-38437594) 7(29269898-29377078) |
fruit fly
(Drosophila melanogaster) |
Insecta |
rb3 |
ommochrome biosynthesis |
47(a) |
|
1 4C7 -- |
worm
(Caenorhabditis elegans) |
Secernentea |
apb-36 |
-- |
39(a) |
possible ortholog |
I(7853743-7857829) |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
PAT26 |
AP3-complex subunit beta-A |
25(a) |
1 → many |
3(20566248-20571248) |
rice
(Oryza sativa) |
Liliopsida |
-- |
adaptin, putative, expressed |
24(a) |
1 → many |
1(42969296-42975874) |
ENSEMBL Gene Tree for AP3B1 (if available)
TreeFam Gene Tree for AP3B1 (if available) |
Paralogs
for AP3B1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for AP3B1 gene
- AP3B22
3 SIMAP similar genes for AP3B1 using alignment to 4 protein entries: AP3B1_HUMAN (see all proteins):DKFZp686D17136 AP3B2 AP1B1
AP3B1 for paralogs About GeneDecksing
|
Genomic Variants
for AP3B1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 5 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for AP3B1 (77296349 - 77546349 bp, first 250kb of AP3B1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for AP3B1
4 Indels: 40770 28006 42434 12702
Human Gene Mutation Database (HGMD): AP3B1
Locus Specific Mutation Databases (LSDB): AP3B1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AP3B1 |
|
Disorders
/ Diseases
for AP3B1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
AP3B1 for disorders About GeneDecksing
OMIM gene information: 603401
OMIM disorders: 608233
UniProtKB/Swiss-Prot: AP3B1_HUMAN, O00203
Defects in AP3B1 are the cause of Hermansky-Pudlak syndrome type 2 (HPS2) [MIM:608233]. Hermansky-Pudlaksyndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneousalbinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results fromdefects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storagein the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 havean increased susceptibility to infections
15  diseases for AP3B1: About MalaCardshermansky-pudlak syndrome hermansky pudlak syndrome 2 platelet storage pool deficiency hermansky-pudlak syndrome 1
chediak-higashi syndrome hemophagocytic lymphohistiocytosis oculocutaneous albinism night blindness
albinism was-related disorders blindness neutropenia
crohn's disease schizophrenia melanoma
4 diseases from the University of Copenhagen DISEASES database for AP3B1:Hermansky-Pudlak syndrome Oculocutaneous albinism Platelet storage pool deficiency Neutropenia 3 Novoseek disease relationships for AP3B1 gene About this table
GeneTests: AP3B1
Hermansky-Pudlak Syndrome
Human Genome Epidemiology (HuGE) Navigator: AP3B1 (9 documents)
Export disorders for AP3B1 gene to outside databases
|
Publications
for AP3B1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for AP3B1 gene, integrated from 9 sources (see all 76):
(articles sorted by number of sources associating them with AP3B1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Beta3A-adaptin, a subunit of the adaptor-like complex AP-3. (PubMed id 9182526)1, 2, 3, 9 Dell'Angelica E.C.... Bonifacino J.S. (1997)
- Characterization of the adaptor-related protein complex, AP-3. (PubMed id 9151686)1, 2, 3 Simpson F.... Robinson M.S. (1997)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. (PubMed id 10024875)1, 2 Dell'Angelica E.C....Bonifacino J.S. (1999)
- Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. (PubMed id 11809908)1, 9 Huizing M....Gahl W.A. (2002)
- Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. (PubMed id 16537806)1, 9 Jung J....Klein C. (2006)
- Pigmentation-related genes and their implication in malignant melanoma susceptibility. (PubMed id 19320733)1, 9 Fernandez L.P....Ribas G. (2009)
- The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. (PubMed id 9931340)1, 9 Feng L....Swank R.T. (1999)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
|
External Searches for AP3B1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing AP3B1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing AP3B1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AP3B1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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| Name | Description |
| PharmGKB entry for AP3B1 | Pharmacogenomics, SNPs, Pathways | | AP3B1base | http://bioinf.uta.fi/AP3B1base/ | | Mutations of the ADTB3A gene | http://www.retina-international.org/files/sci-news/adtb3mut.htm | | Albinism database (ADB) | http://albinismdb.med.umn.edu/hps2mut.htm | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AP3B1 |
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About This Section
| Patent Information for AP3B1 gene:
Search GeneIP for patents involving AP3B1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for AP3B1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for AP3B1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AP3B1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AP3B1 | | | OriGene Protein Over-expression Lysate for AP3B1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for AP3B1 | | OriGene 3'-UTR Clone for AP3B1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AP3B1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AP3B1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for AP3B1 | | OriGene Custom Protein Services for AP3B1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AP3B1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AP3B1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AP3B1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AP3B1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AP3B1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AP3B1 |
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| | | | Search Tocris compounds for AP3B1 |
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 | | | AP3B1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP3B1 |
|  |  |  |  | | | | Search ThermoFisher Antibodies for AP3B1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP3B1 |
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