AP1B1 gene

adaptor related protein complex 1 subunit beta 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Autosomal recessive keratitis-ichthyosis-deafness syndrome

From UniProt:

Keratitis-ichthyosis-deafness syndrome, autosomal recessive (KIDAR): 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. [MIM:242150]

Cytogenetic Location: 22q12.2, which is the long (q) arm of chromosome 22 at position 12.2

Molecular Location: base pairs 29,327,680 to 29,388,583 on chromosome 22 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 22q12.2, which is the long (q) arm of chromosome 22 at position 12.2
  • ADTB1
  • AP105A
  • BAM22
  • CLAPB2
  • KIDAR