NACC1
entrez
112939
canonical
uniprot
Q96RE7
canonical
ensembl
ENSG00000160877
resolver
ensp
ENSP00000292431
resolver
ensp
ENSP00000467120
resolver
ensp
ENSP00000514870
resolver
ensp
ENSP00000571761
resolver
ensp
ENSP00000571762
resolver
ensp
ENSP00000571763
resolver
ensp
ENSP00000583390
resolver
ensp
ENSP00000583391
resolver
ensp
ENSP00000583392
resolver
enst
ENST00000292431
resolver
enst
ENST00000586171
resolver
enst
ENST00000700232
resolver
enst
ENST00000901702
resolver
enst
ENST00000901703
resolver
enst
ENST00000901704
resolver
enst
ENST00000913331
resolver
enst
ENST00000913332
resolver
enst
ENST00000913333
resolver
genesymbol
NACC1
resolver
genesymbol_syn
BTBD14B
resolver
genesymbol_syn
NAC1
resolver
hgnc
HGNC:20967
resolver
uniprot_entry
NACC1_HUMAN
resolver
amino_acid_sequence
MAQTLQMEIPNFGNSILECLNEQRLQGLYCDVSVVVKGHAFKAHRAVLAASSSYFRDLFNNSRSAVVELPAAVQPQSFQQILSFCYTGRLSMNVGDQFLLMYTAGFLQIQEIMEKGTEFFLKVSSPSCDSQGLHAEEAPSSEPQSPVAQTSGWPACSTPLPLVSRVKTEQQESDSVQCMPVAKRLWDSGQKEAGGGGNGSRKMAKFSTPDLAANRPHQPPPPQQAPVVAAAQPAVAAGAGQPAGGVAAAGGVVSGPSTSERTSPGTSSAYTSDSPGSYHNEEDEEEDGGEEGMDEQYRQICNMYTMYSMMNVGQTAEKVEALPEQVAPESRNRIRVRQDLASLPAELINQIGNRCHPKLYDEGDPSEKLELVTGTNVYITRAQLMNCHVSAGTRHKVLLRRLLASFFDRNTLANSCGTGIRSSTNDPRRKPLDSRVLHAVKYYCQNFAPNFKESEMNAIAADMCTNARRVVRKSWMPKVKVLKAEDDAYTTFISETGKIEPDMMGVEHGFETASHEGEAGPSAEALQ
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (NECFM) [MIM:617393]: A neurodevelopmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging reveals delayed myelination and cerebral atrophy. {ECO:0000269|PubMed:28132692}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Functions as a transcriptional repressor. Seems to function as a transcriptional corepressor in neuronal cells through recruitment of HDAC3 and HDAC4. Contributes to tumor progression, and tumor cell proliferation and survival. This may be mediated at least in part through repressing transcriptional activity of GADD45GIP1. Required for recruiting the proteasome from the nucleus to the cytoplasm and dendritic spines. {ECO:0000269|PubMed:17130457, ECO:0000269|PubMed:17804717}.
uniprot
proteins
mass_dalton
57258
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17130457
uniprot
proteins
pubmed
17391728
uniprot
proteins
pubmed
17804717
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19407373
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28132692
uniprot
proteins
sequence_length
527
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Distribution in the cytoplasm is dependent on phosphorylation. {ECO:0000250}.
uniprot
proteins