Free for academic non-profit institutions. Other users need a Commercial license
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]
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.
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Clathrin derived vesicle budding | ||
2 | HIV Life Cycle |
.64
|
.45
|
3 | Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters | ||
4 | Vesicle-mediated transport | ||
5 | Human cytomegalovirus infection |
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 | -- |
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: |
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 |
|
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
keratitis-ichthyosis-deafness syndrome, autosomal recessive |
|
|
keratitis-ichthyosis-deafness syndrome, autosomal dominant |
|
|
mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma |
|
|
ichthyosis |
|
|
meningioma, familial |
|
|