THAP11

Protein identityUniProt · HPA

UniProt accession

Q96EK4

Gene

THAP11

Ensembl

ENSG00000168286

Chromosome

16

Canonical length

314 aa

Protein class

Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

The protein encoded by this gene contains a THAP domain, which is a conserved DNA-binding domain that has striking similarity to the site-specific DNA-binding domain (DBD) of Drosophila P element transposases. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

314 residues, UniProt reviewed canonical sequence.

>Q96EK4|THAP11
     1  MPGFTCCVPG CYNNSHRDKA LHFYTFPKDA ELRRLWLKNV SRAGVSGCFS TFQPTTGHRL
    61  CSVHFQGGRK TYTVRVPTIF PLRGVNERKV ARRPAGAAAA RRRQQQQQQQ QQQQQQQQQQ
   121  QQQQQQQQQQ QQSSPSASTA QTAQLQPNLV SASAAVLLTL QATVDSSQAP GSVQPAPITP
   181  TGEDVKPIDL TVQVEFAAAE GAAAAAAASE LQAATAGLEA AECPMGPQLV VVGEEGFPDT
   241  GSDHSYSLSS GTTEEELLRK LNEQRDILAL MEVKMKEMKG SIRHLRLTEA KLREELREKD
   301  RLLAMAVIRK KHGM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against THAP11 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.57

Highest tissue expression

49 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about THAP11.

Disease | AllUniProt

Conditions THAP11 is implicated in, by any mechanism.

• Methylmalonic aciduria and homocystinuria type cblL (MAHCL) MIM:620940
• Spinocerebellar ataxia 51 (SCA51) MIM:620947

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 157 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Methylmalonic acidemia with homocystinuria, type cblX
• Disorders of Intracellular Cobalamin Metabolism
• Methylmalonic aciduria and homocystinuria, cb1L type

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.47

gnomAD pLI

0.83

gnomAD missense Z

2.15

DepMap mean gene effect

-0.45

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell population proliferation
• electron transport chain
• negative regulation of neuron apoptotic process
• negative regulation of transcription by RNA polymerase II
• neuron differentiation
• regulation of mitochondrial transcription
• regulation of transcription by RNA polymerase II

Molecular functions

• core promoter sequence-specific DNA binding
• DNA binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• zinc ion binding

Cellular components

• chromatin
• cytosol
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• THAP-type zinc finger
• THAP domain

KeywordsUniProt

• Activator
• Coiled coil
• Cytoplasm
• DNA-binding
• Epilepsy
• Intellectual disability
• Metal-binding
• Neurodegeneration
• Nucleus
• Repressor
• Spinocerebellar ataxia
• Transcription
• Transcription regulation
• Triplet repeat expansion
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of THAP11 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HCFC1
• CTBP1
• PSMC5