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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
External Ids for AP1B1 Gene
- HGNC: 554
- Entrez Gene: 162
- Ensembl: ENSG00000100280
- OMIM: 600157
- UniProtKB: Q10567
Previous HGNC Symbols for AP1B1 Gene
- ADTB1
- CLAPB2
Previous GeneCards Identifiers for AP1B1 Gene
- GC22M026419
- GC22M028048
- GC22M029723
- GC22M012687
Summaries 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 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma. Among its related pathways are Lysosome and Clathrin derived vesicle budding. 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.
Additional gene information for AP1B1 Gene
- HGNC(554)
- Entrez Gene(162)
- Ensembl(ENSG00000100280)
- OMIM(600157)
- UniProtKB(Q10567)
- Open Targets Platform(ENSG00000100280)
- Search for AP1B1 at DataMed
- Search for AP1B1 at HumanCyc
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
Promoters and enhancers for AP1B1 Gene
- 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
Genomic Locations for AP1B1 Gene
- chr22:29,327,680-29,423,179
- (GRCh38/hg38)
- Size:
- 95,500 bases
- Orientation:
- Minus strand
- chr22:29,723,669-29,819,168
- (GRCh37/hg19)
- 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:
-
- 22q12.2 by HGNC
- 22q12.2 by Entrez Gene
- 22q12.2 by Ensembl
AP1B1 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 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
- 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
Protein Expression for AP1B1 Gene
Post-translational modifications for AP1B1 Gene
Other Protein References for AP1B1 Gene
Antibody Products
- Creative Diagnostics Rabbit Anti-Human AP1B1 Polyclonal antibody
- Creative Biolabs Recombinant Mouse anti-Human AP1B1 Monoclonal antibody (KK4)
- Novus Biologicals Antibodies for AP1B1
-
Abcam antibodies for AP1B1
- Invitrogen Antibodies for AP1B1 (AFLGC-AP1B1)
-
Biorbyt antibodies for AP1B1
-
Santa Cruz Biotechnology (SCBT) Antibodies for AP1B1
- Sino Biological Antibodies for AP1B1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for AP1B1
- Origene Custom Protein Services for AP1B1
- Novus Biologicals proteins for AP1B1
- antibodies-online: Show 4 available AP1B1 Proteins ranked by validation data
- Compare Top AP1B1 Proteins
-
Quality Products:
-
Abcam proteins for AP1B1
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- Family:
-
- Belongs to the adaptor complexes large subunit family.
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 (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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 9733768 |
| GO:0019901 | protein kinase binding | ISS | -- |
| GO:0030276 | clathrin binding | IEA | -- |
Phenotypes for AP1B1 Gene
- MGI mutant phenotypes for AP1B1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for AP1B1:
Animal Model Products
-
Taconic Biosciences Mouse Models for AP1B1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AP1B1 - Select products 50% OFF >
- * AP1B1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AP1B1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AP1B1
-
Santa Cruz Biotechnology (SCBT) CRISPR for AP1B1
miRNA for AP1B1 Gene
- miRTarBase miRNAs that target AP1B1
-
- hsa-miR-1-3p (MIRT023555)
- hsa-miR-455-3p (MIRT037846)
- hsa-miR-769-3p (MIRT039122)
- hsa-miR-92b-3p (MIRT040619)
- hsa-miR-18a-3p (MIRT040921)
- hsa-miR-484 (MIRT041898)
- hsa-miR-222-3p (MIRT046805)
- hsa-miR-1343-5p (MIRT737445)
- hsa-miR-3150a-3p (MIRT740251)
- hsa-miR-3175 (MIRT740641)
- hsa-miR-4283 (MIRT743706)
- hsa-miR-4524a-3p (MIRT745833)
- hsa-miR-4524b-3p (MIRT745873)
- hsa-miR-4740-3p (MIRT748100)
- hsa-miR-491-5p (MIRT749192)
- hsa-miR-6084 (MIRT751787)
- hsa-miR-6085 (MIRT751789)
- hsa-miR-6763-5p (MIRT754993)
- hsa-miR-6786-5p (MIRT755915)
- hsa-miR-6813-5p (MIRT756725)
- hsa-miR-6825-5p (MIRT756955)
- hsa-miR-6827-5p (MIRT757047)
- hsa-miR-92a-2-5p (MIRT760535)
- hsa-miR-939-5p (MIRT760736)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AP1B1
- Browse OriGene Inhibitory RNA Products For AP1B1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP1B1
Clone Products
- Applied Biological Materials (abm): Clones for AP1B1 - Select products 50% OFF >
- * AP1B1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG211270
- MR211270
- MR211270L3
- MR211270L4
- MR231413
- MR231424
- RC211920
- RC211920L3
- RC211920L4
- RC212913
- RC212913L3
- RC212913L4
- RC229039
- RC229039L3
- RC229039L4
- RG211920
- RG212913
- RG229039
- RR210374
- RR210374L3
- RR210374L4
- MR211270L3V
- MR211270L4V
- RC211920L3V
- RC211920L4V
- RC212913L3V
- RC212913L4V
- RC229039L3V
- RC229039L4V
- RR210374L3V
- RR210374L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AP1B1
- Addgene plasmids for AP1B1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AP1B1
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| golgi apparatus | 5 |
| lysosome | 4 |
| plasma membrane | 2 |
| endosome | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
- Golgi apparatus (4)
- Vesicles (4)
- Cytosol (2)
| 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 | -- |
Pathways & Interactions for AP1B1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Clathrin derived vesicle budding | ||
| 2 | HIV Life Cycle |
.65
|
.45
|
| 3 | Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters | ||
| 4 | Vesicle-mediated transport | ||
| 5 | Human cytomegalovirus infection | ||
Pathways by source for AP1B1 Gene
1 BioSystems pathway for AP1B1 Gene
16 Reactome pathways 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
Interacting Proteins for AP1B1 Gene
Selected Interacting proteins:
Q10567-AP1B1_HUMAN
ENSP00000350199
for AP1B1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for AP1B1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006886 | intracellular protein transport | IEA | -- |
| GO:0007368 | determination of left/right symmetry | IEA | -- |
| GO:0007507 | heart development | IEA | -- |
| GO:0015031 | protein transport | IEA | -- |
| GO:0016192 | vesicle-mediated transport | IBA | 21873635 |
No data available for SIGNOR curated interactions for AP1B1 Gene
Transcripts for AP1B1 Gene
mRNA/cDNA for AP1B1 Gene
- 8 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000482818 3560 nts (view in UCSC)
- ENST00000405198 3838 nts (view in UCSC)
- ENST00000317368 3903 nts (view in UCSC)
- ENST00000402502 2935 nts (view in UCSC)
- ENST00000472057 727 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AP1B1 - Select products 50% OFF >
- * AP1B1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AP1B1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AP1B1
-
Santa Cruz Biotechnology (SCBT) CRISPR for AP1B1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AP1B1
- Browse OriGene Inhibitory RNA Products For AP1B1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AP1B1
Clone Products
- Applied Biological Materials (abm): Clones for AP1B1 - Select products 50% OFF >
- * AP1B1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG211270
- MR211270
- MR211270L3
- MR211270L4
- MR231413
- MR231424
- RC211920
- RC211920L3
- RC211920L4
- RC212913
- RC212913L3
- RC212913L4
- RC229039
- RC229039L3
- RC229039L4
- RG211920
- RG212913
- RG229039
- RR210374
- RR210374L3
- RR210374L4
- MR211270L3V
- MR211270L4V
- RC211920L3V
- RC211920L4V
- RC212913L3V
- RC212913L4V
- RC229039L3V
- RC229039L4V
- RR210374L3V
- RR210374L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AP1B1
- Addgene plasmids for AP1B1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AP1B1
| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Lymph (Hematopoietic System)
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AP1B1
SOURCE GeneReport for Unigene cluster for AP1B1 Gene:
Hs.368794mRNA 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(3)
- Kidney(2.3)
- Heart(2)
- Blood(2)
- Skin(2)
Primer Products
-
OriGene qPCR primer pairs for AP1B1
-
OriGene qPCR primer pairs and template standards for AP1B1
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | AP1B1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | AP1B1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | AP1B1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | AP1B1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ap1b1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Ap1b1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | AP1B1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | AP1B1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | AP1B1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ap1b1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ap1b1 30 31 |
|
OneToOne | |
| wufa16e07 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Bap 30 31 32 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001267 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | apb-1 30 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | APL2 31 |
|
OneToMany | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT4G23460 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os03g0355600 30 |
|
||
| 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 |
|
ManyToMany | |
| CSA.9795 31 |
|
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
Variants for AP1B1 Gene
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 |
|---|---|---|---|---|---|
| 805795 | Pathogenic: Autosomal recessive keratitis-ichthyosis-deafness syndrome | 29,363,107(-) | C/T | SPLICE_ACCEPTOR_VARIANT | |
| 805796 | Pathogenic: Autosomal recessive keratitis-ichthyosis-deafness syndrome | 29,358,821(-) | A/G | MISSENSE_VARIANT | |
| 805797 | Pathogenic: Autosomal recessive keratitis-ichthyosis-deafness syndrome | 29,331,890(-) | AG/A | FRAMESHIFT_VARIANT | |
| 805798 | Pathogenic: Autosomal recessive keratitis-ichthyosis-deafness syndrome | 29,331,852(-) | C/A | NONSENSE | |
| rs1569159579 | Uncertain Significance: Sensory neuropathy; Generalized hypotonia; Failure to thrive; Broad-based gait; Sensory ataxic neuropathy; Decreased body weight; Impaired distal proprioception; Sensory ataxia | 29,356,505(-) | C/T | MISSENSE_VARIANT |
| 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 |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP1B1 Gene
Disorders for AP1B1 Gene
(5) MalaCards diseases for AP1B1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| keratitis-ichthyosis-deafness syndrome, autosomal recessive |
|
|
| mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma |
|
|
| ichthyosis |
|
|
| meningioma, radiation-induced |
|
|
| meningioma, familial |
|
|
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 mutations affecting the gene represented in this entry.
Additional Disease Information for AP1B1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for AP1B1 Gene
Publications for AP1B1 Gene
- 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
- 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
- Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. (PMID: 31630788) Boyden LM … Choate KA (American journal of human genetics 2019) 3 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
- 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
Products for AP1B1 Gene
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Sources for AP1B1 Gene
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