Aliases for AP3B1 Gene
Aliases for AP3B1 Gene
External Ids for AP3B1 Gene
- HGNC: 566
- Entrez Gene: 8546
- Ensembl: ENSG00000132842
- OMIM: 603401
- UniProtKB: O00203
Previous GeneCards Identifiers for AP3B1 Gene
- GC05M076103
- GC05M077532
- GC05M077336
- GC05M077383
- GC05M077384
- GC05M077333
- GC05M077296
- GC05M072504
Summaries for AP3B1 Gene
-
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]
GeneCards Summary for AP3B1 Gene
AP3B1 (Adaptor Related Protein Complex 3 Beta 1 Subunit) is a Protein Coding gene. Diseases associated with AP3B1 include Hermansky-Pudlak Syndrome 2 and Hermansky-Pudlak Syndrome. Among its related pathways are Clathrin derived vesicle budding and Oncogenic MAPK signaling. Gene Ontology (GO) annotations related to this gene include binding and GTP-dependent protein binding. An important paralog of this gene is AP3B2.
UniProtKB/Swiss-Prot for AP3B1 Gene
-
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.
Additional gene information for AP3B1 Gene
- Monarch Initiative
- Search for AP3B1 at DataMed
- Search for AP3B1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP3B1 Gene
Genomics for AP3B1 Gene
GeneHancer (GH) Regulatory Elements for AP3B1 Gene
Promoters and enhancers for AP3B1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH05I078293 | Promoter/Enhancer | 2.3 | EPDnew FANTOM5 Ensembl ENCODE | 556.9 | 0.0 | -13 | 2.9 | HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B NEUROD1 SIN3A | AP3B1 JMY RPS3AP20 RPL7P23 ENSG00000251605 | |
| GH05I078278 | Promoter | 0.5 | EPDnew | 550.4 | +16.1 | 16098 | 0.1 | AP3B1 GC05M078176 GC05P078271 | ||
| GH05I077645 | Enhancer | 1.6 | VISTA UCNEbase | 11.7 | +649.5 | 649464 | 0.6 | HDGF ARNT YBX1 GLI4 ZNF2 ZNF416 ZNF143 KLF7 ZNF548 ZNF202 | RPL7P23 SCAMP1 WDR41 AP3B1 AGGF1 OTP GC05M077675 | |
| GH05I078222 | Enhancer | 0.8 | ENCODE | 6.9 | +72.5 | 72483 | 0.3 | HDGF HDAC1 PKNOX1 RB1 BMI1 BATF RAD21 IRF4 ATF7 ETV6 | ATP6V1G1P6 AP3B1 GC05M078230 GC05M078176 | |
| GH05I078287 | Enhancer | 0.8 | Ensembl ENCODE | 6.6 | +6.6 | 6637 | 1.2 | ZNF384 ZNF664 PRDM6 JUND MAFF ZNF600 FOS MAFK | GC05M078176 AP3B1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around AP3B1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for AP3B1 Gene
Genomic Locations for AP3B1 Gene
- chr5:78,000,525-78,294,755
- (GRCh38/hg38)
- Size:
- 294,231 bases
- Orientation:
- Minus strand
- chr5:77,296,349-77,590,579
- (GRCh37/hg19)
Genomic View for AP3B1 Gene
Genes around AP3B1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q14.1 by Ensembl
- 5q14.1 by Entrez Gene
- 5q14.1 by HGNC
AP3B1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for AP3B1 Gene
Proteins for AP3B1 Gene
-
Protein details for AP3B1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O00203-AP3B1_HUMAN
- Recommended name:
- AP-3 complex subunit beta-1
- Protein Accession:
- O00203
- E5RJ68
- O00580
- Q7Z393
- Q9HD66
Protein attributes for AP3B1 Gene
- Size:
- 1094 amino acids
- Molecular mass:
- 121320 Da
- Quaternary structure:
-
- 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).
- SequenceCaution:
-
- Sequence=CAD97982.1; Type=Frameshift; Positions=1011; Evidence={ECO:0000305}; Sequence=CAD97982.1; Type=Miscellaneous discrepancy; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
Protein Expression for AP3B1 Gene
Post-translational modifications for AP3B1 Gene
- Phosphorylated on serine residues.
- Ubiquitination at posLast=512512, posLast=523523, Lys552, and posLast=596596
Other Protein References for AP3B1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for AP3B1
-
Abcam antibodies for AP3B1
- Invitrogen Antibodies for AP3B1
- GeneTex AP3B1 antibody for AP3B1
-
Santa Cruz Biotechnology (SCBT) Antibodies for AP3B1
Protein Products
-
OriGene Purified Proteins for AP3B1
- Search Origene for MassSpec and Protein Over-expression Lysates for AP3B1
- Origene Custom Protein Services for AP3B1
- antibodies-online: Search results for 3 available AP3B1 Proteins ranked by validation data
- Compare Top AP3B1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for AP3B1
-
Abcam proteins for AP3B1
Assay Products
-
Cloud-Clone Corp. Assay Kits for AP3B1
- antibodies-online: Search results for 1 available AP3B1 Elisa Kits ranked by validation data
- Compare Top AP3B1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for AP3B1 Gene
Domains & Families for AP3B1 Gene
Gene Families for AP3B1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for AP3B1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for AP3B1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O00203- Family:
-
- Belongs to the adaptor complexes large subunit family.
Function for AP3B1 Gene
Molecular function for AP3B1 Gene
- UniProtKB/Swiss-Prot Function:
- 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.
Phenotypes From GWAS Catalog for AP3B1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0019903 | protein phosphatase binding | IPI | 17622474 |
| GO:0030742 | GTP-dependent protein binding | IPI | 22511774 |
Phenotypes for AP3B1 Gene
- MGI mutant phenotypes for AP3B1:
-
inferred from 17 alleles
- nervous system phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- hematopoietic system phenotype
- pigmentation phenotype
- renal/urinary system phenotype
- craniofacial phenotype
- no phenotypic analysis
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for AP3B1:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability in esophageal squamous lineage
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Increased shRNA abundance (Z-score > 2)
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Decreased viability with paclitaxel
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for AP3B1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for AP3B1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AP3B1 gene
- Search ViGene Biosciences for AP3B1
CRISPR Products
-
OriGene CRISPR knockouts for AP3B1
- genomics-online: gRNA clones - Search results for 90 available AP3B1 gene related products
- Overview of 90 available AP3B1 gene related products
- Applied Biological Materials CRISPR for AP3B1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AP3B1
- GenScript: Design CRISPR guide RNA sequences for AP3B1
miRNA for AP3B1 Gene
- miRTarBase miRNAs that target AP3B1
-
- hsa-mir-1-3p (MIRT001387)
- hsa-mir-9-5p (MIRT006781)
- hsa-mir-214-3p (MIRT024966)
- hsa-mir-421 (MIRT039356)
- hsa-mir-221-3p (MIRT046907)
- hsa-mir-302d-5p (MIRT626873)
- hsa-mir-302b-5p (MIRT626874)
- hsa-mir-548t-3p (MIRT626875)
- hsa-mir-548ap-3p (MIRT626876)
- hsa-mir-548aa (MIRT626877)
- hsa-mir-548z (MIRT626878)
- hsa-mir-548h-3p (MIRT626879)
- hsa-mir-548d-3p (MIRT626880)
- hsa-mir-548bb-3p (MIRT626881)
- hsa-mir-548ac (MIRT626882)
- hsa-mir-1305 (MIRT724591)
- hsa-mir-6739-3p (MIRT724592)
- hsa-mir-375 (MIRT724593)
- hsa-mir-4677-5p (MIRT724594)
- hsa-mir-7156-5p (MIRT724595)
- hsa-mir-4273 (MIRT724596)
- hsa-mir-19b-2-5p (MIRT724597)
- hsa-mir-19b-1-5p (MIRT724598)
- hsa-mir-19a-5p (MIRT724599)
- hsa-mir-2052 (MIRT724600)
- hsa-mir-22-5p (MIRT724601)
- hsa-mir-2116-5p (MIRT724602)
- hsa-mir-4522 (MIRT724603)
- hsa-mir-627-3p (MIRT724604)
- hsa-mir-4431 (MIRT724605)
- hsa-mir-195-3p (MIRT724606)
- hsa-mir-16-2-3p (MIRT724607)
- hsa-mir-3664-5p (MIRT724608)
miRNA Products
- Search ViGene Biosciences for AP3B1
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AP3B1
- Browse OriGene Inhibitory RNA Products For AP3B1
- genomics-online: shRNA clones - Search results for 90 available AP3B1 gene related products
- Overview of 90 available AP3B1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for AP3B1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for AP3B1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AP3B1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for AP3B1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for AP3B1
-
ViGene Biosciences adenoviral particle packaged cDNA for AP3B1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for AP3B1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AP3B1 gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AP3B1 Gene
Localization for AP3B1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for AP3B1 Gene
- Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Golgi apparatus. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| lysosome | 5 |
| golgi apparatus | 5 |
| nucleus | 3 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
- Golgi apparatus (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005765 | lysosomal membrane | HDA | 17897319 |
| GO:0005794 | Golgi apparatus | TAS,IEA | -- |
| GO:0016020 | membrane | IEA,HDA | 19946888 |
| GO:0030117 | membrane coat | IEA | -- |
| GO:0030123 | AP-3 adaptor complex | IEA | -- |
Pathways & Interactions for AP3B1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Clathrin derived vesicle budding | ||
| 2 | HIV Life Cycle |
.45
|
|
| 3 | Vesicle-mediated transport | ||
| 4 | Oncogenic MAPK signaling | ||
| 5 | Lysosome |
-
|
|
Pathways by source for AP3B1 Gene
9 Reactome pathways for AP3B1 Gene
1 KEGG pathway for AP3B1 Gene
Interacting Proteins for AP3B1 Gene
Selected Interacting proteins:
ENSP00000255194
O00203-AP3B1_HUMAN
for AP3B1 Gene via
STRING
MINT
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006622 | protein targeting to lysosome | IEA | -- |
| GO:0006810 | transport | IEA | -- |
| GO:0006886 | intracellular protein transport | TAS | 9931340 |
| GO:0007596 | blood coagulation | IEA | -- |
| GO:0008089 | anterograde axonal transport | ISS | -- |
No data available for SIGNOR curated interactions for AP3B1 Gene
Transcripts for AP3B1 Gene
mRNA/cDNA for AP3B1 Gene
- (5) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (218) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for AP3B1 Gene
- Adaptor-related protein complex 3, beta 1 subunit:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for AP3B1
- genomics-online: gRNA clones - Search results for 90 available AP3B1 gene related products
- Overview of 90 available AP3B1 gene related products
- Applied Biological Materials CRISPR for AP3B1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AP3B1
- GenScript: Design CRISPR guide RNA sequences for AP3B1
miRNA Products
- Search ViGene Biosciences for AP3B1
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AP3B1
- Browse OriGene Inhibitory RNA Products For AP3B1
- genomics-online: shRNA clones - Search results for 90 available AP3B1 gene related products
- Overview of 90 available AP3B1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for AP3B1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for AP3B1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AP3B1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for AP3B1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
| ExUns: | 26 | ^ | 27 |
|---|---|---|---|
| SP1: | |||
| SP2: |
Expression for AP3B1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Gonad (Reproductive System)
- Testis Somatic Cells Primitive Gonad
-
Testis (Reproductive System)
- Testis Somatic Cells Primitive Gonad
-
Blood (Hematopoietic System)
- Mature B-Cells Peripheral Blood
This gene is overexpressed in Peripheral blood mononuclear cells (6.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AP3B1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of AP3B1 Gene:
AP3B1SOURCE GeneReport for Unigene cluster for AP3B1 Gene:
Hs.532091mRNA Expression by UniProt/SwissProt for AP3B1 Gene:
O00203-AP3B1_HUMAN
Tissue specificity:
Ubiquitously expressed.
Evidence on tissue expression from TISSUES for AP3B1 Gene
- Blood(4.3)
- Heart(4.2)
- Intestine(4.2)
- Pancreas(4.2)
- Nervous system(2.5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for AP3B1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- respiratory
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- nose
- outer ear
- skull
- tooth
Thorax:
- lung
Abdomen:
- liver
- spleen
Pelvis:
- pelvis
Limb:
- femur
- hip
- lower limb
- thigh
General:
- blood
- coagulation system
- hair
- peripheral nervous system
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs and template standards for AP3B1
-
OriGene qPCR primer pairs for AP3B1
No data available for mRNA differential expression in normal tissues for AP3B1 Gene
Orthologs for AP3B1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AP3B1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | AP3B1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | AP3B1 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | AP3B1 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ap3b1 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | AP3B1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | AP3B1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | AP3B1 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | AP3B1 34 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | rb 35 33 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | apb-3 34 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | APL6 34 36 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5012 34 |
|
OneToMany | |
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | apl6 33 |
|
- Species where no ortholog for AP3B1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
Paralogs for AP3B1 Gene
(3) SIMAP similar genes for AP3B1 Gene using alignment to 4 proteins:
Variants for AP3B1 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs111935323 | benign, likely-benign, not specified, Hermansky-Pudlak syndrome, Hermansky Pudlak syndrome 2 | 78,015,516(-) | CAGCAG/CAG | coding_sequence_variant, genic_downstream_transcript_variant, inframe_deletion | |
| rs112652327 | uncertain-significance, likely-benign, Hermansky-Pudlak syndrome, not specified | 78,181,627(-) | G/A | coding_sequence_variant, synonymous_variant | |
| rs113301033 | likely-benign, not provided, not specified | 78,116,161(-) | T/C | coding_sequence_variant, missense_variant | |
| rs114954951 | likely-benign, Hermansky-Pudlak syndrome | 78,002,314(-) | T/C | downstream_transcript_variant | |
| rs115124715 | uncertain-significance, Hermansky-Pudlak syndrome | 78,002,523(-) | T/C | 3_prime_UTR_variant, genic_downstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3103n106 | CNV | deletion | 24896259 |
| esv1469212 | CNV | deletion | 17803354 |
| esv2666996 | CNV | deletion | 23128226 |
| esv2730333 | CNV | deletion | 23290073 |
| esv3566139 | CNV | deletion | 23714750 |
| esv3570207 | CNV | loss | 25503493 |
| esv3570208 | CNV | loss | 25503493 |
| esv3605502 | CNV | loss | 21293372 |
| esv3605504 | CNV | loss | 21293372 |
| esv4975 | CNV | loss | 18987735 |
| nsv1114694 | CNV | deletion | 24896259 |
| nsv328833 | CNV | deletion | 16902084 |
| nsv598700 | CNV | loss | 21841781 |
| nsv956493 | CNV | deletion | 24416366 |
| nsv968952 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
35.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.91;
67.69% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for AP3B1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP3B1 Gene
Disorders for AP3B1 Gene
(6) MalaCards diseases for AP3B1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hermansky-pudlak syndrome 2 |
|
|
| hermansky-pudlak syndrome |
|
|
| oculocutaneous albinism |
|
|
| storage pool platelet disease |
|
|
| hermansky-pudlak syndrome 1 |
|
|
Search AP3B1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
AP3B1_HUMAN- Hermansky-Pudlak syndrome 2 (HPS2) [MIM:608233]: A 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. {ECO:0000269 PubMed:10024875}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for AP3B1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for AP3B1 Gene
Publications for AP3B1 Gene
- Beta3A-adaptin, a subunit of the adaptor-like complex AP-3. (PMID: 9182526) Dell'Angelica EC … Bonifacino JS (The Journal of biological chemistry 1997) 2 3 4 22 58
- Pigmentation-related genes and their implication in malignant melanoma susceptibility. (PMID: 19320733) Fernandez LP … Ribas G (Experimental dermatology 2009) 3 22 44 58
- Characterization of the adaptor-related protein complex, AP-3. (PMID: 9151686) Simpson F … Robinson MS (The Journal of cell biology 1997) 2 3 4 58
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
Products for AP3B1 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for AP3B1
- Search Origene for MassSpec and Protein Over-expression Lysates for AP3B1
- Origene Custom Protein Services for AP3B1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AP3B1
- Browse OriGene Inhibitory RNA Products For AP3B1
- OriGene qPCR primer pairs and template standards for AP3B1
- OriGene qPCR primer pairs for AP3B1
- OriGene CRISPR knockouts for AP3B1
- OriGene ORF clones in human for AP3B1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For AP3B1
- GenScript: Next-day shipping of latest version cDNA ORF clones for AP3B1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for AP3B1
- GenScript Custom Assay Services for AP3B1
- GenScript Custom overexpressing Cell Line Services for AP3B1
- GenScript: Design CRISPR guide RNA sequences for AP3B1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for AP3B1
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for AP3B1
- Novus Biologicals lysates and proteins for AP3B1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for AP3B1
- Abcam proteins for AP3B1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Cloud-Clone Corp. Assay Kits for AP3B1
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for AP3B1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for AP3B1
- VectorBuilder custom plasmid, inducible vectors for AP3B1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AP3B1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 39 available AP3B1 Antibodies ranked by validation data
- Compare Top AP3B1 Antibodies
- Quality Products:
- antibodies-online: Search results for 1 available AP3B1 Elisa Kits ranked by validation data
- Compare Top AP3B1 Elisa Kits
- Quality Products:
- antibodies-online: Search results for 3 available AP3B1 Proteins ranked by validation data
- Compare Top AP3B1 Proteins
- Quality Products:
- GeneTex AP3B1 antibody for AP3B1
- Search GeneTex for Proteins for AP3B1
- ViGene Biosciences adenoviral particle packaged cDNA for AP3B1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for AP3B1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for AP3B1 gene
- Search ViGene Biosciences for AP3B1
- Santa Cruz Biotechnology (SCBT) Antibodies for AP3B1
- Search Santa Cruz Biotechnology (SCBT) for AP3B1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for AP3B1
- Horizon Cell Lines for AP3B1
- genomics-online: cdna clones - Search results for 90 available AP3B1 gene related products
- Overview of 90 available AP3B1 gene related products
- orf clones - Search results for 90 available AP3B1 gene related products
- Overview of 90 available AP3B1 gene related products
- genomics-online: gRNA clones - Search results for 90 available AP3B1 gene related products
- Overview of 90 available AP3B1 gene related products
- genomics-online: primer clones - Search results for 90 available AP3B1 gene related products
- Overview of 90 available AP3B1 gene related products
- genomics-online: shRNA clones - Search results for 90 available AP3B1 gene related products
- Overview of 90 available AP3B1 gene related products
Sources for AP3B1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew