RBCC Red Blood Cell Collection

AP1S2_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: AP1S2 , DC22
Protein names and data: AP1S2_HUMAN , AP-1 complex subunit sigma-2 , Adapter-related protein complex 1 subunit sigma-1B; Adaptor protein complex AP-1 subunit sigma-1B; Clathrin assembly protein complex 1 sigma-1B small chain; Golgi adaptor HA1/AP1 adaptin sigma-1B subunit; Sigma 1B subunit of AP-1 clathrin; Sigma-adaptin 1B; Sigma1B-adaptin Lenght: 157 a.a.
Mass: 18615 Da
fasta formatted sequence
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.
Disease: ( OMIM: 300629 300630 ) Mental retardation, X-linked 59 (MRX59) [MIM:300630]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX59 consists of a mild-to-profound mental retardation. Other features includes hypotonia early in life and delay in walking. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, clathrin-coated pit. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.
Tissue specificity: Widely expressed.

Database cross-references

UniProt: P56377
Ensembl: ENST00000329235
MIM: 300629
MIM: 300630
neXtProt: NX_P56377
Antibodypedia: P56377 (may not find the protein thus also not any antibody)
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