Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | AMPH | contributors: mct - updated : 28-01-2014 |
HGNC name | amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen) |
HGNC id | 471 |
|
Location | 7p14 Physical location : 38.423.306 - 38.671.020 |
Synonym name | dominant auto-antigen of paraneoplastic Stiff-Man syndrome |
Synonym symbol(s) | AMPH1 |
DNA |
TYPE | functioning gene |
STRUCTURE | 247.87 kb 21 Exon(s) |
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10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | Y | status | confirmed |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type |
expressed in | (based on citations) |
organ(s) |
tissue |
|
cells |
|
cell lineage
cell lines
| fluid/secretion
| |
at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
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HOMOLOGY |
Homologene |
FAMILY |
CATEGORY | antigen , transport |
SUBCELLULAR LOCALIZATION
| plasma membrane,junction |
| intracellular |
intracellular,cytoplasm,cytoskeleton | |
text | peripheral membrane protein associated with the cytoplasmic surface of synaptic vesicles. |
basic FUNCTION | |
| |
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CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS | endocytosis transport |
PATHWAY |
metabolism |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein | ![]() |
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cell & other | synaptic vesicle associated |
REGULATION |
Phosphorylated by | CDKL5 (remarkably phosphorylated by CDKL5) ![]() |
ASSOCIATED DISORDERS |
corresponding disease(s) |
Other morbid association(s) |
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Susceptibility |
Variant & Polymorphism
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Candidate gene
Marker
| Therapy target
|
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ANIMAL & CELL MODELS |