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 HIV Life Cycle and Clathrin derived vesicle budding. 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP3B1 Gene
Genomics for AP3B1 Gene
Regulatory Elements for AP3B1 Gene
Enhancers for AP3B1 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH05G077645 | 2.3 | VISTA | 11.7 | +649.5 | 649464 | 0.6 | HDGF ARNT YBX1 GLI4 ZNF2 ZNF416 ZNF143 KLF7 ZNF548 ZNF263 | RPL7P23 WDR41 AP3B1 AGGF1 OTP GC05M077675 |
| GH05G078293 | 1.4 | FANTOM5 ENCODE | 6.8 | +0.1 | 79 | 2.7 | HDGF PKNOX1 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 | JMY AP3B1 GC05M078176 |
| GH05G078287 | 0.9 | Ensembl ENCODE | 6.6 | +6.6 | 6638 | 1.3 | BHLHE40 ZNF384 ZNF664 JUND PRDM6 MAFF BCL11A FOS ZNF600 MAFK | AP3B1 GC05M078176 |
| GH05G078522 | 2 | FANTOM5 Ensembl ENCODE dbSUPER | 2.9 | -232.2 | -232155 | 9.0 | PKNOX1 FOXA2 ATF1 ARNT SIN3A TCF12 CBX5 GATA2 FOS ZNF263 | LHFPL2 SCAMP1-AS1 SCAMP1 AP3B1 ARSB PIR51536 GC05M078588 |
| GH05G078222 | 0.8 | ENCODE | 6.9 | +72.5 | 72484 | 0.3 | HDAC1 HDGF PKNOX1 WRNIP1 BMI1 RAD21 CBX5 RELB ETV6 IKZF2 | AP3B1 ATP6V1G1P6 GC05M078230 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around AP3B1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the AP3B1 gene promoter:
Regulatory Element Products
Genomic Location for AP3B1 Gene
- Chromosome:
- 5
- Start:
- 78,000,525 bp from pter
- End:
- 78,294,755 bp from pter
- Size:
- 294,231 bases
- Orientation:
- Minus strand
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, Lys523, Lys552, and posLast=596596
- Modification sites at PhosphoSitePlus
Other Protein References for AP3B1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for AP3B1
- Novus Biologicals Antibodies for AP3B1
- Invitrogen Antibodies for AP3B1
- antibodies-online Antibodies for AP3B1: See all 31
- 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
- Search GeneTex for Proteins for AP3B1
No data available for DME Specific Peptides for AP3B1 Gene
Domains & Families for AP3B1 Gene
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.
No data available for Gene Families for AP3B1 Gene
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.
| 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
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- immune system phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- respiratory system phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- limbs/digits/tail phenotype
- pigmentation phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- craniofacial phenotype
- no phenotypic analysis
- 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
-
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 RNAi, siRNA, and shRNA products in human, mouse, rat for AP3B1
- Browse OriGene Inhibitory RNA Products For AP3B1
-
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
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
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-12189) for AP3B1
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 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005765 | lysosomal membrane | IDA | 17897319 |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0016020 | membrane | IEA,IDA | 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:
O00203-AP3B1_HUMAN
ENSP00000255194
for AP3B1 Gene via
MINT
STRING
IID
| 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,IEA | 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
-
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 RNAi, siRNA, and shRNA products in human, mouse, rat for AP3B1
- Browse OriGene Inhibitory RNA Products For AP3B1
-
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
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-12189) for AP3B1
| 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 for AP3B1
-
OriGene qPCR primer pairs and template standards 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 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | AP3B1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | AP3B1 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | AP3B1 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ap3b1 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | AP3B1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | AP3B1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | AP3B1 35 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | AP3B1 35 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | rb 36 34 35 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | apb-3 35 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | APL6 35 37 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5012 35 |
|
OneToMany | |
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | apl6 34 |
|
- 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 | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121908904 | Pathogenic, Hermansky-Pudlak syndrome 2 (HPS2) [MIM:608233] | 78,129,219(-) | GCAGC(G/T)TATTG | reference, missense | |
| rs121908905 | Pathogenic | 78,181,545(-) | TAATT(A/G/T)GAAAT | reference, missense, stop-gained | |
| rs121908906 | Pathogenic | 78,141,268(-) | GTGAA(C/T)GAGTT | reference, stop-gained | |
| rs121908907 | Pathogenic | 78,116,228(-) | CAAAA(G/T)AATGG | reference, stop-gained | |
| rs869312835 | Pathogenic | 78,039,150(-) | GGTCT(C/G)TATAC | reference, missense |
| 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)
Relevant External Links for AP3B1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP3B1 Gene
Disorders for AP3B1 Gene
(8) MalaCards diseases for AP3B1 Gene - From: OMIM, ClinVar, GeneTests, 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.
Relevant External Links for AP3B1
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 E.C. … Bonifacino J.S. (J. Biol. Chem. 1997) 2 3 4 22 64
- Pigmentation-related genes and their implication in malignant melanoma susceptibility. (PMID: 19320733) Fernandez L.P. … Ribas G. (Exp. Dermatol. 2009) 3 22 46 64
- Characterization of the adaptor-related protein complex, AP-3. (PMID: 9151686) Simpson F. … Robinson M.S. (J. Cell Biol. 1997) 2 3 4 64
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
- 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
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