ACTRT1
entrez
139741
canonical
uniprot
Q8TDG2
canonical
ensembl
ENSG00000123165
resolver
ensp
ENSP00000360165
resolver
enst
ENST00000371124
resolver
genesymbol
ACTRT1
resolver
genesymbol_syn
ARPT1
resolver
hgnc
HGNC:24027
resolver
uniprot
Q6X7C1
resolver
uniprot
Q96L10
resolver
uniprot_entry
ACTT1_HUMAN
resolver
uniprot_sec
Q6X7C1
resolver
uniprot_sec
Q96L10
resolver
amino_acid_sequence
MFNPHALDVPAVIFDNGSGLCKAGLSGEIGPRHVISSVLGHCKFNVPLARLNQKYFVGQEALYKYEALHLHYPIERGLVTGWDDMEKLWKHLFERELGVKPSQQPVLMTEPSLNPREIREKLAEMMFETFSVPGFYLSNHAVAALYASACVTGLVVDSGDGVTCTVPIFEGYSLPHAVTKLCMAGRDITEHLTRLLFASGFNFPCILNKAVVNNIKEKLCYIALEPEKELRKSRGEVLGAYRLPDGHVIHFGDELYQVPEVLFAPDQLGIHSPGLSKMVSSSIMKCDTDIQNKLYADIVLSGGTTLLPGLEERLMKEVEQLASKGTPIKITASPDRCFSAWIGASIMTSMSSFKQMWVTSADFKEYGTSVVQRRCF
uniprot
proteins
disease_involvement
DISEASE: Note=Mutations and insertions in the coding sequence or in regulatory non-coding elements of this gene may be associated with Bazex syndrome; a cancer-prone genodermatosis with an X-linked dominant inheritance pattern. {ECO:0000269|PubMed:28869610}.
uniprot
proteins
function
FUNCTION: Negatively regulates the Hedgehog (SHH) signaling. Binds to the promoter of the SHH signaling mediator, GLI1, and inhibits its expression. {ECO:0000269|PubMed:28869610}.
uniprot
proteins
mass_dalton
41696
uniprot
proteins
protein_family
Actin family
uniprot
proteins
pubmed
12243744
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
28869610
uniprot
proteins
pubmed
31429579
uniprot
proteins
sequence_length
376
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305|PubMed:28869610}. Cytoplasm {ECO:0000269|PubMed:28869610}. Nucleus {ECO:0000269|PubMed:28869610}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000269|PubMed:31429579}. Note=Both detected in the nucleus and cytoplasm, localizes to the nucleus where it binds chromatin upon stimulation of the Hedgehog pathway. {ECO:0000269|PubMed:28869610}.
uniprot
proteins