AP1B1 Gene (Protein Coding)

Adaptor Related Protein Complex 1 Subunit Beta 1

GC22M029327
GIFtS:
45
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 ... See more...

Aliases for AP1B1 Gene

Aliases for AP1B1 Gene

  • Adaptor Related Protein Complex 1 Subunit Beta 1 2 3 5
  • BAM22 2 3 4
  • Clathrin Assembly Protein Complex 1 Beta Large Chain 3 4
  • Adaptor Related Protein Complex 1 Beta 1 Subunit 2 3
  • Adaptor Protein Complex AP-1 Subunit Beta-1 3 4
  • Golgi Adaptor HA1/AP1 Adaptin Beta Subunit 3 4
  • AP-1 Complex Subunit Beta-1 3 4
  • Beta-1-Adaptin 3 4
  • Beta-Adaptin 1 3 4
  • ADTB1, CLAPB2 2 3
  • AP105A 2 3
  • CLAPB2 3 4
  • ADTB1 3 4
  • Plasma Membrane Adaptor HA2/AP2 Adaptor Beta Subunit 3
  • Adapter-Related Protein Complex 1 Subunit Beta-1 3
  • Adaptor-Related Protein Complex 1 Subunit Beta-1 4
  • Beta-Prime-Adaptin 3
  • Beta1-Adaptin 3
  • KIDAR 3
  • AP1B1 5

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 Subunit Beta 1) is a Protein Coding gene. Diseases associated with AP1B1 include Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive and Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant. Among its related pathways are Vesicle-mediated transport and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include binding and transporter activity. An important paralog of this gene is AP2B1.

UniProtKB/Swiss-Prot Summary 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 (PubMed:31630791). 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 , Rfam classification and piRNA Summary for AP1B1 Gene

Genomics for AP1B1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for AP1B1 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
GH22J029381 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 257.4 +3.2 3179 8.1 SP1 ZBTB10 MXD4 CEBPA NR2C1 MNT SMAD5 ETS1 ZFP64 ZNF217 AP1B1 RASL10A SNORD125 ZNRF3 GAS2L1 RHBDD3 ENSG00000285697 piR-35674-333 L13304-023
GH22J029363 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 268.1 +20.3 20282 10.6 IKZF1 ZIC2 SIN3A ZEB2 FOSL1 SPI1 MYC JUND MAX ZNF189 AP1B1 RASL10A EWSR1 GAS2L1 SF3A1 SNORD125 TBC1D10A ENSG00000272858 THOC5 NIPSNAP1
GH22J029423 Promoter/Enhancer 0.6 EPDnew Ensembl 250.3 -34.7 -34718 0.6 CBFA2T3 ENSG00000242156 AP1B1 RFPL1 RFPL1S THOC5 RFPL4AP6 NEFH L13304-023
GH22J029390 Enhancer 0.2 Ensembl 250.7 -1.7 -1718 0.2 AP1B1 NEFH SNORD125 RASL10A GAS2L1 ENSG00000285697 FJ601684-297 RFPL1 L13304-023
GH22J029305 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 5.6 +79.4 79449 7.7 ZBTB10 FEZF1 NR2C1 IKZF1 SMAD5 ZFP64 ZNF217 CTCF ZBTB7B ZEB1 GAS2L1 HSALNG0134820 RASL10A AP1B1 RHBDD3 lnc-AP1B1-3 L13304-023
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AP1B1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AP1B1

Top Transcription factor binding sites by QIAGEN in the AP1B1 gene promoter:
  • AML1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • Sox5
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • STAT5A

Genomic Locations for AP1B1 Gene

Latest Assembly
chr22:29,327,680-29,388,583
(GRCh38/hg38)
Size:
60,904 bases
Orientation:
Minus strand

Previous Assembly
chr22:29,723,669-29,784,559
(GRCh37/hg19 by Entrez Gene)
Size:
60,891 bases
Orientation:
Minus strand

chr22:29,723,669-29,819,168
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for AP1B1 Gene

Proteins for AP1B1 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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

Protein Expression for AP1B1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AP1B1 Gene

  • Ubiquitination at Lys887
  • Modification sites at PhosphoSitePlus

Other Protein References for AP1B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for AP1B1 Gene

Domains & Families for AP1B1 Gene

Gene Families for AP1B1 Gene

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

Protein Domains for AP1B1 Gene

InterPro:
Blocks:
  • Alpha/gamma adaptin, C-terminal
  • Armadillo repeat
  • 2-oxo acid dehydrogenase, acyltransferase component, lipoyl-binding
  • Adaptin, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for AP1B1 Gene

GenScript: Design optimal peptide antigens:
  • Golgi adaptor HA1/AP1 adaptin beta subunit (AP1B1_HUMAN)

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

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

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 (PubMed:31630791). 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:0005515 protein binding IEA,IPI 9733768
GO:0019901 protein kinase binding ISS --
GO:0030276 clathrin binding IEA --
genes like me logo Genes that share ontologies with AP1B1: view
genes like me logo Genes that share phenotypes with AP1B1: view

Human Phenotype Ontology for AP1B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for AP1B1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP1B1

No data available for Enzyme Numbers (IUBMB) , 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
endosome 2
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
  • Cytosol (2)
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
2 KEGG pathways for AP1B1 Gene
1 GeneGo (Thomson Reuters) pathway for AP1B1 Gene
  • Transport Clathrin-coated vesicle cycle
1 Qiagen pathway for AP1B1 Gene
  • CTLA4 Signaling

Gene Ontology (GO) - Biological Process for AP1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development 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

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for AP1B1 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for AP1B1 Gene

8 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP1B1

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

Expression for AP1B1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for AP1B1 Gene
mRNA expression by GTEx for AP1B1 GenemRNA expression by BioGPS for AP1B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Lymph (Hematopoietic System)

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, MaxQB, and MOPED for AP1B1 Gene



Protein tissue co-expression partners for AP1B1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Adrenal gland(2.6)
  • Kidney(2.2)
  • Heart(2)
genes like me logo Genes that share expression patterns with AP1B1: view

Primer products for research

No data available for 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 30 31
  • 99.78 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia AP1B1 31
  • 95 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia AP1B1 30 31
  • 92.03 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia AP1B1 30 31
  • 91.33 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ap1b1 30
  • 89.82 (n)
Mouse
(Mus musculus)
 Mammalia Ap1b1 30 17 31
  • 89.36 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia AP1B1 31
  • 73 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves AP1B1 30 31
  • 86.6 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia AP1B1 31
  • 94 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ap1b1 30
  • 76.02 (n)
Zebrafish
(Danio rerio)
 Actinopterygii ap1b1 30 31
  • 78.34 (n)
 OneToOne
wufa16e07 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Bap 30 31 32
  • 72.96 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001267 30
  • 70.35 (n)
Worm
(Caenorhabditis elegans)
 Secernentea apb-1 30 31
  • 61.8 (n)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes APL2 31
  • 37 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT4G23460 30
  • 59.51 (n)
Rice
(Oryza sativa)
 Liliopsida Os03g0355600 30
  • 59.18 (n)
Barley
(Hordeum vulgare)
 Liliopsida Hv.10635 30
Wheat
(Triticum aestivum)
 Liliopsida Ta.27318 30
Corn
(Zea mays)
 Liliopsida Zm.12502 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 75 (a)
 ManyToMany
CSA.9795 31
  • 51 (a)
 ManyToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.4537 30
Species where no ortholog for AP1B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for AP1B1: view image

Paralogs for AP1B1 Gene

Paralogs for AP1B1 Gene

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

  • AP1B1_HUMAN
  • C9J1E7_HUMAN
  • H7C034_HUMAN

Pseudogenes.org Pseudogenes for AP1B1 Gene

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

Variants for AP1B1 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AP1B1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs1569159579 Uncertain Significance: Sensory neuropathy; Generalized hypotonia; Failure to thrive; Decreased body weight; Broad-based gait; Sensory ataxic neuropathy; Impaired distal proprioception; Sensory ataxia 29,356,505(-) C/T
NM_001127.3(AP1B1):c.637G>A (p.Glu213Lys) 		MISSENSE
rs1602683532 Pathogenic: Autosomal recessive keratitis-ichthyosis-deafness syndrome 29,331,890(-) AG/A
NM_001127.3(AP1B1):c.2335del (p.Leu779fs) 		FRAMESHIFT
rs1602749299 Pathogenic: Autosomal recessive keratitis-ichthyosis-deafness syndrome 29,358,821(-) A/G
NM_001127.3(AP1B1):c.430T>C (p.Cys144Arg) 		MISSENSE
rs1602761438 Pathogenic: Autosomal recessive keratitis-ichthyosis-deafness syndrome 29,363,107(-) C/T
NM_001127.3(AP1B1):c.38-1G>A 		SPLICE_ACCEPTOR
rs780548317 Pathogenic: Autosomal recessive keratitis-ichthyosis-deafness syndrome 29,331,852(-) C/A
NM_001127.3(AP1B1):c.2374G>T (p.Glu792Ter) 		NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AP1B1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for AP1B1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for AP1B1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for AP1B1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search AP1B1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AP1B1_HUMAN
  • Keratitis-ichthyosis-deafness syndrome, autosomal recessive (KIDAR) [MIM:242150]: An autosomal recessive form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. KIDAR patients manifest ichthyosis, failure to thrive and developmental delay in childhood, thrombocytopenia, photophobia, and progressive hearing loss. Low plasma copper and ceruloplasmin levels have been reported in some patients. {ECO:0000269 PubMed:31630788, ECO:0000269 PubMed:31630791}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for AP1B1

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

No data available for 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 23
  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 23
  3. Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. (PMID: 31630788) Boyden LM … Choate KA (American journal of human genetics 2019) 3 4 74
  4. Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. (PMID: 31630791) Alsaif HS … Alkuraya FS (American journal of human genetics 2019) 3 4 74
  5. A genome-wide association study of carotid atherosclerosis in HIV-infected men. (PMID: 20009918) Shrestha S … Grunfeld C (AIDS (London, England) 2010) 3 41

ExternalLinks

View latest publications for AP1B1 gene in Mastermind

Products for AP1B1 Gene

  • Addgene plasmids for AP1B1

Sources for AP1B1 Gene