RBCC Red Blood Cell Collection

AP4S1_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: AP4S1
Protein names and data: AP4S1_HUMAN , AP-4 complex subunit sigma-1 , AP-4 adapter complex subunit sigma-1; Adapter-related protein complex 4 subunit sigma-1; Sigma-1 subunit of AP-4; Sigma-4-adaptin; Sigma4-adaptin Lenght: 144 a.a.
Mass: 17005 Da
fasta formatted sequence
Function: Subunit of novel type of clathrin- or non-clathrin- associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system.
Disease: ( OMIM: 607243 614067 ) Cerebral palsy, spastic quadriplegic 6 (CPSQ6) [MIM:614067]: A neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Golgi apparatus, trans-Golgi network. Membrane, coated pit. Note=Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells.
Tissue specificity: Widely expressed.

Database cross-references

UniProt: Q9Y587
Ensembl: ENST00000216366
Ensembl: ENST00000334725
Ensembl: ENST00000542754
Ensembl: ENST00000554345
MIM: 607243
MIM: 614067
neXtProt: NX_Q9Y587
Antibodypedia: Q9Y587 (may not find the protein thus also not any antibody)
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