THAP1
entrez
55145
canonical
uniprot
Q9NVV9
canonical
ensembl
ENSG00000131931
resolver
ensp
ENSP00000254250
resolver
ensp
ENSP00000344966
resolver
genesymbol
THAP1
resolver
hgnc
HGNC:20856
resolver
uniprot
A6NCB6
resolver
uniprot
D3DSY5
resolver
uniprot
H9KV49
resolver
uniprot
Q53FQ1
resolver
uniprot
Q6IA99
resolver
uniprot_entry
THAP1_HUMAN
resolver
uniprot_sec
A6NCB6
resolver
uniprot_sec
D3DSY5
resolver
uniprot_sec
H9KV49
resolver
uniprot_sec
Q53FQ1
resolver
uniprot_sec
Q6IA99
resolver
amino_acid_sequence
MVQSCSAYGCKNRYDKDKPVSFHKFPLTRPSLCKEWEAAVRRKNFKPTKYSSICSEHFTPDCFKRECNNKLLKENAVPTIFLCTEPHDKKEDLLEPQEQLPPPPLPPPVSQVDAAIGLLMPPLQTPVNLSVFCDHNYTVEDTMHQRKRIHQLEQQVEKLRKKLKTAQQRCRRQERQLEKLKEVVHFQKEKDDVSERGYVILPNDYFEIVEVPA
uniprot
proteins
disease_involvement
DISEASE: Dystonia 6, torsion (DYT6) [MIM:602629]: A primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions. {ECO:0000269|PubMed:19182804, ECO:0000269|PubMed:19345147, ECO:0000269|PubMed:19908320, ECO:0000269|PubMed:19908325, ECO:0000269|PubMed:20083799, ECO:0000269|PubMed:20211909, ECO:0000269|PubMed:20629133, ECO:0000269|PubMed:20669277, ECO:0000269|PubMed:20687191, ECO:0000269|PubMed:20825472, ECO:0000269|PubMed:21110056, ECO:0000269|PubMed:21425335, ECO:0000269|PubMed:21425341, ECO:0000269|PubMed:21800139, ECO:0000269|PubMed:21839475, ECO:0000269|PubMed:21847143, ECO:0000269|PubMed:22377579, ECO:0000269|PubMed:25385508, ECO:0000269|PubMed:28299530, ECO:0000269|Ref.3}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptotic activity by potentiating both serum-withdrawal and TNF-induced apoptosis. {ECO:0000269|PubMed:12717420, ECO:0000269|PubMed:17003378, ECO:0000269|PubMed:20200153}.
uniprot
proteins
mass_dalton
24944
uniprot
proteins
mutagenesis
MUTAGEN 4; /note="S->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 5; /note="C->A: Abolishes DNA- and zinc-binding."; /evidence="ECO:0000269|PubMed:15863623, ECO:0000269|PubMed:18073205"; MUTAGEN 6; /note="S->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 8; /note="Y->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 10; /note="C->A: Abolishes DNA- and zinc-binding."; /evidence="ECO:0000269|PubMed:15863623, ECO:0000269|PubMed:18073205"; MUTAGEN 11; /note="K->A: Partially affects DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 16; /note="K->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 24; /note="K->A: Strongly affects DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 26; /note="P->A: Abolishes DNA- and zinc-binding."; /evidence="ECO:0000269|PubMed:15863623, ECO:0000269|PubMed:18073205"; MUTAGEN 27; /note="L->A: Partially affects DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 28..30; /note="TRP->AAA: Strongly affects DNA-binding."; MUTAGEN 28; /note="T->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 29; /note="R->A: Strongly affects DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 30; /note="P->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 31; /note="S->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 32; /note="L->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 33; /note="C->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 34; /note="K->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 35; /note="E->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 36; /note="W->A: Abolishes DNA- and zinc-binding."; /evidence="ECO:0000269|PubMed:15863623, ECO:0000269|PubMed:18073205"; MUTAGEN 37; /note="E->A: Partially affects DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 40; /note="V->A: Partially affects DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 41..43; /note="RRK->AAA: Strongly affects DNA-binding."; MUTAGEN 41; /note="R->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 42; /note="R->A: Strongly affects DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 43; /note="K->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 44; /note="N->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 45; /note="F->A: Strongly affects DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 46; /note="K->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 47..49; /note="PTK->AAA: Strongly affects DNA-binding."; MUTAGEN 47; /note="P->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 48; /note="T->A: Strongly affects DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 49; /note="K->A: Does not affect DNA-binding."; MUTAGEN 50..52; /note="YSS->AAA: Strongly affects DNA-binding."; MUTAGEN 50; /note="Y->A: Partially affects DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 51; /note="S->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 52; /note="S->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 54; /note="C->A: Abolishes DNA- and zinc-binding."; /evidence="ECO:0000269|PubMed:15863623, ECO:0000269|PubMed:18073205"; MUTAGEN 55; /note="S->A: Does not affect DNA-binding."; /evidence="ECO:0000269|PubMed:18073205"; MUTAGEN 57; /note="H->A: Abolishes DNA- and zinc-binding."; /evidence="ECO:0000269|PubMed:15863623, ECO:0000269|PubMed:18073205"; MUTAGEN 58; /note="F->A: Abolishes DNA- and zinc-binding."; /evidence="ECO:0000269|PubMed:15863623, ECO:0000269|PubMed:18073205"; MUTAGEN 78; /note="P->A: Abolishes DNA- and zinc-binding."; /evidence="ECO:0000269|PubMed:15863623, ECO:0000269|PubMed:18073205
uniprot
proteins
protein_family
THAP1 family
uniprot
proteins
pubmed
12717420
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15863623
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
17003378
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18073205
uniprot
proteins
pubmed
19182804
uniprot
proteins
pubmed
19345147
uniprot
proteins
pubmed
19908320
uniprot
proteins
pubmed
19908325
uniprot
proteins
pubmed
20010837
uniprot
proteins
pubmed
20083799
uniprot
proteins
pubmed
20144952
uniprot
proteins
pubmed
20200153
uniprot
proteins
pubmed
20211909
uniprot
proteins
pubmed
20629133
uniprot
proteins
pubmed
20669277
uniprot
proteins
pubmed
20687191
uniprot
proteins
pubmed
20825472
uniprot
proteins
pubmed
21110056
uniprot
proteins
pubmed
21425335
uniprot
proteins
pubmed
21425341
uniprot
proteins
pubmed
21793105
uniprot
proteins
pubmed
21800139
uniprot
proteins
pubmed
21839475
uniprot
proteins
pubmed
21847143
uniprot
proteins
pubmed
22377579
uniprot
proteins
pubmed
25385508
uniprot
proteins
pubmed
28299530
uniprot
proteins
sequence_length
213
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:12717420}. Nucleus, PML body {ECO:0000269|PubMed:12717420}.
uniprot
proteins