NP_001259000.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
AP-1 complex subunit sigma-2 isoform 1
NCBI Official Synonym Full Names
adaptor-related protein complex 1, sigma 2 subunit
NCBI Official Synonym Symbols
PGS; DC22; MRX59; MRXS5; MRXSF; MRXS21; SIGMA1B [Similar Products]
NCBI Protein Information
AP-1 complex subunit sigma-2
UniProt Protein Name
AP-1 complex subunit sigma-2
UniProt Synonym Protein Names
Adaptor protein complex AP-1 subunit sigma-1B; Adaptor-related protein complex 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
UniProt Entry Name
AP1S2_HUMAN
NCBI Summary for AP1S2
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 the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
UniProt Comments for AP1S2
AP1S2: 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. Defects in AP1S2 are the cause of mental retardation X- linked type 59 (MRX59). It is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. In contrast to syndromic or specific X-linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation. MRX59 consists of a mild-to-profound mental retardation. Other features includes hypotonia early in life and delay in walking. Belongs to the adaptor complexes small subunit family.
Chromosomal Location of Human Ortholog: Xp22.2
Cellular Component: Golgi membrane; cytoplasmic vesicle membrane; lysosomal membrane; AP-type membrane coat adaptor complex; coated pit; trans-Golgi network membrane; cytosol
Molecular Function: protein transporter activity
Biological Process: intracellular protein transport; viral reproduction; antigen processing and presentation of exogenous peptide antigen via MHC class II; post-Golgi vesicle-mediated transport; regulation of defense response to virus by virus
Disease: Mental Retardation, X-linked, Syndromic 5
Research Articles on AP1S2
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Products associated with anti-AP1S2 antibody
Pathways associated with anti-AP1S2 antibody
Diseases associated with anti-AP1S2 antibody
Organs/Tissues associated with anti-AP1S2 antibody
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