THAP11
entrez
57215
canonical
uniprot
Q96EK4
canonical
ensembl
ENSG00000168286
resolver
ensp
ENSP00000304689
resolver
enst
ENST00000303596
resolver
genesymbol
THAP11
resolver
hgnc
HGNC:23194
resolver
uniprot
A4UCT5
resolver
uniprot
A8K002
resolver
uniprot
O94795
resolver
uniprot_entry
THA11_HUMAN
resolver
uniprot_sec
A4UCT5
resolver
uniprot_sec
A8K002
resolver
uniprot_sec
O94795
resolver
amino_acid_sequence
MPGFTCCVPGCYNNSHRDKALHFYTFPKDAELRRLWLKNVSRAGVSGCFSTFQPTTGHRLCSVHFQGGRKTYTVRVPTIFPLRGVNERKVARRPAGAAAARRRQQQQQQQQQQQQQQQQQQQQQQQQQQQQQSSPSASTAQTAQLQPNLVSASAAVLLTLQATVDSSQAPGSVQPAPITPTGEDVKPIDLTVQVEFAAAEGAAAAAAASELQAATAGLEAAECPMGPQLVVVGEEGFPDTGSDHSYSLSSGTTEEELLRKLNEQRDILALMEVKMKEMKGSIRHLRLTEAKLREELREKDRLLAMAVIRKKHGM
uniprot
proteins
disease_involvement
DISEASE: Methylmalonic aciduria and homocystinuria type cblL (MAHCL) [MIM:620940]: An autosomal recessive disorder of cobalamin metabolism clinically characterized by early-onset seizures, and profound global developmental delay with severe intellectual disability. Metabolic features are mild methylmalonic aciduria, low-normal plasma methionine, and high-normal plasma homocysteine. {ECO:0000269|PubMed:28449119, ECO:0000269|PubMed:31905202}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spinocerebellar ataxia 51 (SCA51) [MIM:620947]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA51 is an autosomal dominant form with age-dependent penetrance and genetic anticipation. {ECO:0000269|PubMed:37148549}. Note=The disease is caused by variants affecting the gene represented in this entry. SCA51 is caused by CAG(n) trinucleotide repeat expansions. The expansion associated with ataxia phenotype is over 45 repeats. There is a correlation between the size of the CAG(n) repeat and symptom onset. A patient with onset at 4 years of age showed 100 repeats, whereas patients with 45 to 55 repeats had a disease onset in adulthood. CAG(n) repeat expansion leads to THAP11 protein aggregation in the cytoplasm and decreased cell viability. {ECO:0000269|PubMed:37148549}.
uniprot
proteins
function
FUNCTION: Transcription factor, which has both transcriptional activation and repression activities (PubMed:31905202). Also modulates chromatin accessibility (PubMed:38361031). In complex with HCFC1 and ZNF143, regulates the expression of several genes, including AP2S1, ESCO2, OPHN1, RBL1, UBXN8 and ZNF32 (PubMed:26416877). May regulate the expression of genes that encode both cytoplasmic and mitochondrial ribosomal proteins (By similarity). Required for normal mitochondrial development and function. Regulates mitochondrial gene expression, including that of components of the electron transport chain (By similarity). Involved in the maintainance of pluripotency in early embryonic cells, possibly through its action on mitochondrial maturation which is required to meet high energy demands of these cells (By similarity). Required for early development of retina, preventing premature exit of retinal progenitor cells from the cell cycle. This effect may also be mediated by its action on mitochondria (By similarity). Through the regulation of MMACHC gene expression, controls cobalamin metabolism (PubMed:28449119, PubMed:31905202). Required for normal brain development and neural precursor differentiation (By similarity). Involved in cell growth (PubMed:31905202). {ECO:0000250|UniProtKB:Q61191, ECO:0000250|UniProtKB:Q6TGZ4, ECO:0000269|PubMed:26416877, ECO:0000269|PubMed:28449119, ECO:0000269|PubMed:31905202, ECO:0000269|PubMed:38361031}.
uniprot
proteins
mass_dalton
34455
uniprot
proteins
protein_family
THAP11 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15368101
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18585351
uniprot
proteins
pubmed
23306615
uniprot
proteins
pubmed
26416877
uniprot
proteins
pubmed
28449119
uniprot
proteins
pubmed
31905202
uniprot
proteins
pubmed
37148549
uniprot
proteins
pubmed
38361031
uniprot
proteins
pubmed
9853615
uniprot
proteins
sequence_length
314
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:37148549, ECO:0000269|PubMed:9853615}. Cytoplasm {ECO:0000269|PubMed:37148549}. Note=In oocytes, detected in the ooplasm, without evidence of its presence in the nucleus (By similarity). Found in the nucleus of undifferentiated embryonic stem cells (PubMed:18585351). Evenly distributed between nucleus and cytoplasm in skin fibroblasts (PubMed:37148549). {ECO:0000250|UniProtKB:Q9JJD0, ECO:0000269|PubMed:18585351, ECO:0000269|PubMed:37148549}.
uniprot
proteins