Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AP1B1 Gene

Aliases for AP1B1 Gene

  • Adaptor Related Protein Complex 1 Beta 1 Subunit 2 3 5
  • Clathrin Assembly Protein Complex 1 Beta Large Chain 3 4
  • Adaptor-Related Protein Complex 1 Subunit Beta-1 3 4
  • Adaptor Protein Complex AP-1 Subunit Beta-1 3 4
  • Golgi Adaptor HA1/AP1 Adaptin Beta Subunit 3 4
  • Beta-Adaptin 1 3 4
  • Beta-1-Adaptin 3 4
  • CLAPB2 3 4
  • ADTB1 3 4
  • BAM22 3 4
  • Plasma Membrane Adaptor HA2/AP2 Adaptor Beta Subunit 3
  • Adaptor-Related Protein Complex 1, Beta 1 Subunit 2
  • Adaptor-Related Protein Complex 1 Beta 1 Subunit 2
  • Adapter-Related Protein Complex 1 Subunit Beta-1 3
  • AP-1 Complex Subunit Beta-1 3
  • Beta-Prime-Adaptin 3
  • Beta1-Adaptin 3
  • AP105A 3

External Ids for AP1B1 Gene

Previous HGNC Symbols for AP1B1 Gene

  • ADTB1
  • CLAPB2

Previous GeneCards Identifiers for AP1B1 Gene

  • GC22M026419
  • GC22M028048
  • GC22M029723
  • GC22M012687

Summaries for AP1B1 Gene

Entrez Gene Summary for AP1B1 Gene

  • Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GeneCards Summary for AP1B1 Gene

AP1B1 (Adaptor Related Protein Complex 1 Beta 1 Subunit) is a Protein Coding gene. Diseases associated with AP1B1 include Meningioma, Familial. Among its related pathways are HIV Life Cycle and MHC class II antigen presentation. GO annotations related to this gene include binding and transporter activity. An important paralog of this gene is AP2B1.

UniProtKB/Swiss-Prot for AP1B1 Gene

  • Subunit of clathrin-associated adaptor protein complex 1 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.

Gene Wiki entry for AP1B1 Gene

Additional gene information for AP1B1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP1B1 Gene

Genomics for AP1B1 Gene

Regulatory Elements for AP1B1 Gene

Enhancers for AP1B1 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
GH22H029381 1.6 Ensembl ENCODE dbSUPER 18.9 +37.8 37775 8 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF416 ZNF143 RASL10A AP1B1 RPS3AP51 RPL36P17 LOC105372988 SNORD125 ZNRF3 GAS2L1 RHBDD3 LOC102723305
GH22H029368 1.3 FANTOM5 Ensembl ENCODE 17.2 +53.6 53643 1 ZNF362 NRF1 HLF CEBPB ZNF266 MAX ZIC2 OSR2 FOSL1 JUND EWSR1 SF3A1 AP1B1 RASL10A SNORD125 TBC1D10A ENSG00000272858 THOC5 NEFH ZNRF3
GH22H029375 1 ENCODE dbSUPER 18.5 +46.2 46160 3 NFIB CEBPG ZNF121 CTBP1 GATA3 FOSL2 FOS RCOR1 SMARCE1 YY2 AP1B1 RASL10A SNORD125 NIPSNAP1 RHBDD3 LOC102723305 MIR3653
GH22H029305 1.4 FANTOM5 ENCODE 5.6 +114.4 114371 7 ARNT ZFP64 ARID4B FEZF1 ZNF2 ZBTB7B YY1 ZNF766 ZNF143 FOS GAS2L1 RASL10A AP1B1 RHBDD3 ENSG00000273216
GH22H029395 1.1 Ensembl ENCODE 6.5 +28.0 27953 0 RB1 ARID4B RAD21 ZNF143 RCOR1 RUNX3 MIXL1 THAP11 SMARCA5 ZNF654 NEFH AP1B1 LOC102723305 MIR3653
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AP1B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AP1B1 Gene

Chromosome:
22
Start:
29,327,680 bp from pter
End:
29,423,179 bp from pter
Size:
95,500 bases
Orientation:
Minus strand

Genomic View for AP1B1 Gene

Genes around AP1B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP1B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP1B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP1B1 Gene

Proteins for AP1B1 Gene

  • Protein details for AP1B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q10567-AP1B1_HUMAN
    Recommended name:
    AP-1 complex subunit beta-1
    Protein Accession:
    Q10567
    Secondary Accessions:
    • C9JRD1
    • F8WDL0
    • P78436
    • Q20WL3
    • Q86X54

    Protein attributes for AP1B1 Gene

    Size:
    949 amino acids
    Molecular mass:
    104637 Da
    Quaternary structure:
    • Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit AP1G1 and beta-type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin (sigma-type subunit AP1S1 or AP1S2 or AP1S3).

    Three dimensional structures from OCA and Proteopedia for AP1B1 Gene

    Alternative splice isoforms for AP1B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP1B1 Gene

Post-translational modifications for AP1B1 Gene

  • Ubiquitination at posLast=887887
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AP1B1 Gene

Domains & Families for AP1B1 Gene

Gene Families for AP1B1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for AP1B1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q10567

UniProtKB/Swiss-Prot:

AP1B1_HUMAN :
  • Belongs to the adaptor complexes large subunit family.
Family:
  • Belongs to the adaptor complexes large subunit family.
genes like me logo Genes that share domains with AP1B1: view

Function for AP1B1 Gene

Molecular function for AP1B1 Gene

UniProtKB/Swiss-Prot Function:
Subunit of clathrin-associated adaptor protein complex 1 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.

Phenotypes From GWAS Catalog for AP1B1 Gene

Gene Ontology (GO) - Molecular Function for AP1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 7987321
GO:0005515 protein binding IPI 9733768
GO:0008565 protein transporter activity IEA --
GO:0019901 protein kinase binding ISS --
genes like me logo Genes that share ontologies with AP1B1: view
genes like me logo Genes that share phenotypes with AP1B1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for AP1B1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AP1B1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AP1B1 Gene

Localization for AP1B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP1B1 Gene

Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AP1B1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
lysosome 4
plasma membrane 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AP1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005765 lysosomal membrane TAS --
GO:0005794 Golgi apparatus IEA,IDA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with AP1B1: view

Pathways & Interactions for AP1B1 Gene

genes like me logo Genes that share pathways with AP1B1: view

Pathways by source for AP1B1 Gene

1 BioSystems pathway for AP1B1 Gene
1 KEGG pathway for AP1B1 Gene
1 GeneGo (Thomson Reuters) pathway for AP1B1 Gene
1 Qiagen pathway for AP1B1 Gene

Gene Ontology (GO) - Biological Process for AP1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0007368 determination of left/right symmetry IEA --
GO:0007507 heart development IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with AP1B1: view

No data available for SIGNOR curated interactions for AP1B1 Gene

Drugs & Compounds for AP1B1 Gene

No Compound Related Data Available

Transcripts for AP1B1 Gene

Unigene Clusters for AP1B1 Gene

Adaptor-related protein complex 1, beta 1 subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AP1B1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for AP1B1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b · 19c ^
SP1: - - - - -
SP2: -
SP3: -
SP4: -
SP5: -

ExUns: 20 ^ 21 ^ 22a · 22b
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for AP1B1 Gene

GeneLoc Exon Structure for
AP1B1
ECgene alternative splicing isoforms for
AP1B1

Expression for AP1B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AP1B1 Gene

Protein differential expression in normal tissues from HIPED for AP1B1 Gene

This gene is overexpressed in Brain (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AP1B1 Gene



Protein tissue co-expression partners for AP1B1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AP1B1 Gene:

AP1B1

SOURCE GeneReport for Unigene cluster for AP1B1 Gene:

Hs.368794

mRNA Expression by UniProt/SwissProt for AP1B1 Gene:

Q10567-AP1B1_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for AP1B1 Gene

  • Nervous system(4.6)
  • Liver(4.3)
  • Adrenal gland(2.9)
genes like me logo Genes that share expression patterns with AP1B1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for AP1B1 Gene

Orthologs for AP1B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP1B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP1B1 33 34
  • 99.78 (n)
oppossum
(Monodelphis domestica)
Mammalia AP1B1 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP1B1 33 34
  • 92.03 (n)
cow
(Bos Taurus)
Mammalia AP1B1 33 34
  • 91.33 (n)
rat
(Rattus norvegicus)
Mammalia Ap1b1 33
  • 89.82 (n)
mouse
(Mus musculus)
Mammalia Ap1b1 33 16 34
  • 89.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AP1B1 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves AP1B1 33 34
  • 86.6 (n)
lizard
(Anolis carolinensis)
Reptilia AP1B1 34
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap1b1 33
  • 76.02 (n)
zebrafish
(Danio rerio)
Actinopterygii ap1b1 33 34
  • 78.34 (n)
wufa16e07 33
fruit fly
(Drosophila melanogaster)
Insecta Bap 35 33 34
  • 72.96 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001267 33
  • 70.35 (n)
worm
(Caenorhabditis elegans)
Secernentea apb-1 33 34
  • 61.8 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL2 34
  • 37 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G23460 33
  • 59.51 (n)
rice
(Oryza sativa)
Liliopsida Os03g0355600 33
  • 59.18 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.10635 33
wheat
(Triticum aestivum)
Liliopsida Ta.27318 33
corn
(Zea mays)
Liliopsida Zm.12502 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 75 (a)
ManyToMany
CSA.9795 34
  • 51 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4537 33
Species where no ortholog for AP1B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for AP1B1 Gene

ENSEMBL:
Gene Tree for AP1B1 (if available)
TreeFam:
Gene Tree for AP1B1 (if available)

Paralogs for AP1B1 Gene

Paralogs for AP1B1 Gene

(4) SIMAP similar genes for AP1B1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for AP1B1 Gene

genes like me logo Genes that share paralogs with AP1B1: view

Variants for AP1B1 Gene

Sequence variations from dbSNP and Humsavar for AP1B1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000023895 -- 29,339,592(+) GGATG(C/T)CAGGT intron-variant
rs1000030631 -- 29,386,908(+) GTGCT(C/G)TGCTC intron-variant
rs1000098039 -- 29,338,261(+) CGAGG(A/G)AAGCC intron-variant
rs1000115030 -- 29,388,015(+) TCTAG(-/T)TTTTT intron-variant
rs1000132468 -- 29,335,222(+) TCCAC(C/T)AGCGG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for AP1B1 Gene

Variant ID Type Subtype PubMed ID
dgv579n27 CNV gain 19166990
dgv759n67 CNV loss 20364138
dgv837e214 CNV gain 21293372
esv23708 CNV loss 19812545
esv2580719 CNV deletion 19546169
esv2724124 CNV deletion 23290073
esv2724125 CNV deletion 23290073
esv3568350 CNV loss 25503493
esv3647533 CNV gain 21293372
nsv436866 CNV insertion 17901297
nsv588882 CNV gain 21841781
nsv821257 CNV duplication 20802225
nsv829154 CNV gain 20364138
nsv829155 CNV loss 20364138
nsv834171 CNV loss 17160897
nsv966099 CNV duplication 23825009

Variation tolerance for AP1B1 Gene

Residual Variation Intolerance Score: 7.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AP1B1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP1B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP1B1 Gene

Disorders for AP1B1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for AP1B1 Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
meningioma, familial
  • meningioma
- elite association - COSMIC cancer census association via MalaCards
Search AP1B1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AP1B1

Genetic Association Database (GAD)
AP1B1
Human Genome Epidemiology (HuGE) Navigator
AP1B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP1B1
genes like me logo Genes that share disorders with AP1B1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AP1B1 Gene

Publications for AP1B1 Gene

  1. Structure of the promoter and genomic organization of the human beta'-adaptin gene (BAM22) from chromosome 22q12. (PMID: 8812422) Peyrard M … Dumanski JP (Genomics 1996) 2 3 4 22 60
  2. Characterization of a new member of the human beta-adaptin gene family from chromosome 22q12, a candidate meningioma gene. (PMID: 7987321) Peyrard M … Dumanski JP (Human molecular genetics 1994) 2 3 4 22 60
  3. A genome-wide association study of carotid atherosclerosis in HIV-infected men. (PMID: 20009918) Shrestha S … Grunfeld C (AIDS (London, England) 2010) 3 45 60
  4. Genetic variations in humans associated with differences in the course of hepatitis C. (PMID: 15063762) Saito T … Kawata S (Biochemical and biophysical research communications 2004) 3 45 60
  5. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 60

Products for AP1B1 Gene

Sources for AP1B1 Gene

Content
Loading form....