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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 Immune System and Vesicle-mediated transport. 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

No data available for 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
GH22F029381 1.2 Ensembl ENCODE 18.9 +37.8 37775 8.1 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 RASL10A AP1B1 RPL36P17 RPS3AP51 LOC105372988 SNORD125 GAS2L1 RHBDD3 LOC102723305 MIR3653
GH22F029375 0.4 ENCODE 18.5 +46.2 46160 3.4 CTCF RAD21 ZNF121 GATA3 CTBP1 POLR2A SMC3 RCOR1 NFE2 FOSL2 AP1B1 RASL10A SNORD125 NIPSNAP1 RHBDD3 LOC102723305 MIR3653
GH22F029368 1.2 FANTOM5 Ensembl ENCODE 17.2 +53.6 53634 1.3 HDGF ZNF266 MAX ZIC2 ZNF121 PRDM10 FOS ZNF263 ZNF362 HLF AP1B1 RASL10A SNORD125 NEFH ZNRF3 CABP7 MIR3653 LOC102723305
GH22F029394 1 Ensembl ENCODE 6.5 +28.1 28079 0.6 DRAP1 CTCF ZNF146 SAP130 ARID4B RAD21 TEAD3 HNF4G ZNF143 SMC3 NEFH AP1B1 LOC102723305 MIR3653
GH22F029305 0.8 FANTOM5 ENCODE 5.5 +114.4 114371 7.1 PKNOX1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 FOS ZNF263 SP3 GAS2L1 ENSG00000272858 MGC20647 THOC5 RASL10A AP1B1 RHBDD3 ENSG00000273216
- Elite enhancer/Elite enhancer-gene association Download Table
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 Lys 887
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AP1B1 Gene

Domains & Families for AP1B1 Gene

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

No data available for Gene Families for AP1B1 Gene

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.

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

Flow Cytometry Products

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
Jensen Localization Image for AP1B1 Gene COMPARTMENTS Subcellular localization image for AP1B1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
lysosome 4
vacuole 4
plasma membrane 2
nucleus 1

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 --
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

Transcripts for AP1B1 Gene

Unigene Clusters for AP1B1 Gene

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

Flow Cytometry Products

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 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.
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 and mRNA differential expression in normal tissues 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 34 35
  • 99.78 (n)
oppossum
(Monodelphis domestica)
Mammalia AP1B1 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP1B1 34 35
  • 92.03 (n)
cow
(Bos Taurus)
Mammalia AP1B1 34 35
  • 91.33 (n)
rat
(Rattus norvegicus)
Mammalia Ap1b1 34
  • 89.82 (n)
mouse
(Mus musculus)
Mammalia Ap1b1 34 16 35
  • 89.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AP1B1 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves AP1B1 34 35
  • 86.6 (n)
lizard
(Anolis carolinensis)
Reptilia AP1B1 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap1b1 34
  • 76.02 (n)
zebrafish
(Danio rerio)
Actinopterygii ap1b1 34 35
  • 78.34 (n)
wufa16e07 34
fruit fly
(Drosophila melanogaster)
Insecta Bap 36 34 35
  • 72.96 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001267 34
  • 70.35 (n)
worm
(Caenorhabditis elegans)
Secernentea apb-1 34 35
  • 61.8 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL2 35
  • 37 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G23460 34
  • 59.51 (n)
rice
(Oryza sativa)
Liliopsida Os03g0355600 34
  • 59.18 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.10635 34
wheat
(Triticum aestivum)
Liliopsida Ta.27318 34
corn
(Zea mays)
Liliopsida Zm.12502 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 75 (a)
ManyToMany
CSA.9795 35
  • 51 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4537 34
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
rs10667003 -- 29,374,285(+) AGAGG(-/AAAT)GAAAG intron-variant
rs111258140 -- 29,366,492(+) TTAGC(C/T)GGGCA intron-variant
rs111318733 -- 29,346,083(+) AACAA(G/T)GCCCA intron-variant
rs111382610 -- 29,345,539(+) GCTAA(-/T)TTTTT intron-variant
rs111413269 -- 29,336,504(+) ACACT(C/G)GTAAG intron-variant

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 J.P. (Genomics 1996) 2 3 4 22 64
  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 J.P. (Hum. Mol. Genet. 1994) 2 3 4 22 64
  3. A genome-wide association study of carotid atherosclerosis in HIV-infected men. (PMID: 20009918) Shrestha S. … Grunfeld C. (AIDS 2010) 3 46 64
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
  5. Genetic variations in humans associated with differences in the course of hepatitis C. (PMID: 15063762) Saito T. … Kawata S. (Biochem. Biophys. Res. Commun. 2004) 3 46 64

Products for AP1B1 Gene

Sources for AP1B1 Gene

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