Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | ERC1 | contributors: mct/npt/pgu - updated : 27-09-2016 |
HGNC name | ELKS/RAB6-interacting/CAST family member 1 |
HGNC id | 17072 |
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Corresponding disease |
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Location | 12p13.33 Physical location : 1.100.403 - 1.605.099 | ||
Synonym name | |||
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Synonym symbol(s) | KIAA1081, ELKS, RAB6IP2, CAST2, MGC12974 |
DNA |
TYPE | functioning gene |
STRUCTURE | 504.70 kb 20 Exon(s) |
regulatory sequence | cytosine-phosphate-guanine/HTF |
Binding site | |
text structure | SP1 and SP2 binding sites |
MAPPING | cloned | Y | linked | N | status | provisional |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | ubiquitous |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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HOMOLOGY |
Homologene |
FAMILY |
CATEGORY | regulatory |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,organelle,membrane | |
intracellular,cytoplasm,organelle,endoplasmic reticulum | |
intracellular,cytoplasm,organelle,Golgi |
basic FUNCTION | |
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CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein | |
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cell & other |
REGULATION |
Other | ATM- and IKBKG-dependent ubiquitination of ERC1 leads to the ubiquitin-dependent assembly of TAK1/TAB2/3 and IKBKG/IKK complexes, resulting in IKK and NFKB activation following genotoxic stimuli |
ASSOCIATED DISORDERS |
corresponding disease(s) | DEL12PD |
Other morbid association(s) |
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Susceptibility |
Variant & Polymorphism
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Candidate gene | for chilhood apraxia of speech | |
Marker
Therapy target
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ANIMAL & CELL MODELS |