Q99592 · ZBT18_HUMAN
- ProteinZinc finger and BTB domain-containing protein 18
- GeneZBTB18
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids522 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | heterochromatin | |
Cellular Component | nuclear speck | |
Cellular Component | nucleoplasm | |
Cellular Component | nucleus | |
Molecular Function | DNA binding | |
Molecular Function | DNA-binding transcription factor activity, RNA polymerase II-specific | |
Molecular Function | DNA-binding transcription repressor activity, RNA polymerase II-specific | |
Molecular Function | metal ion binding | |
Molecular Function | sequence-specific DNA binding | |
Molecular Function | sequence-specific double-stranded DNA binding | |
Biological Process | negative regulation of DNA-templated transcription | |
Biological Process | negative regulation of transcription by RNA polymerase II | |
Biological Process | positive regulation of transcription by RNA polymerase II | |
Biological Process | regulation of transcription by RNA polymerase II | |
Biological Process | skeletal muscle tissue development |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameZinc finger and BTB domain-containing protein 18
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ99592
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Intellectual developmental disorder, autosomal dominant 22 (MRD22)
- Note
- DescriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD22 patients have limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures.
- See alsoMIM:612337
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_012768 | 132 | in dbSNP:rs1048824 | |||
Sequence: E → G | ||||||
Natural variant | VAR_079032 | 186-522 | found in a patient with Rett syndrome-like phenotype; uncertain significance | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 548 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue, modified residue (large scale data), cross-link.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000047477 | 1-522 | UniProt | Zinc finger and BTB domain-containing protein 18 | |||
Sequence: MEFPDHSRHLLQCLSEQRHQGFLCDCTVLVGDAQFRAHRAVLASCSMYFHLFYKDQLDKRDIVHLNSDIVTAPAFALLLEFMYEGKLQFKDLPIEDVLAAASYLHMYDIVKVCKKKLKEKATTEADSTKKEEDASSCSDKVESLSDGSSHIAGDLPSDEDEGEDEKLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHATAAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSSLSGVENLNSSYFSSQDVLRSNLVQVKVEKEASCDESDVGTNDYDMEHSTVKESVSTNNRVQYEPAHLAPLREDSVLRELDREDKASDDEMMTPESERVQVEGGMESSLLPYVSNILSPAGQIFMCPLCNKVFPSPHILQIHLSTHFREQDGIRSKPAADVNVPTCSLCGKTFSCMYTLKRHERTHSGEKPYTCTQCGKSFQYSHNLSRHAVVHTREKPHACKWCERRFTQSGDLYRHIRKFHCELVNSLSVKSEALSLPTVRDWTLEDSSQELWK | |||||||
Modified residue | 157 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 157 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Cross-link | 273 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 333 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 516 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 517 | UniProt | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Interaction
Subunit
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q99592 | CTBP1 Q13363 | 7 | EBI-3232046, EBI-908846 | |
BINARY | Q99592 | CTBP1 Q13363-2 | 3 | EBI-3232046, EBI-10171858 | |
BINARY | Q99592 | CTBP2 P56545 | 8 | EBI-3232046, EBI-741533 | |
BINARY | Q99592 | CTBP2 P56545-3 | 6 | EBI-3232046, EBI-10171902 | |
BINARY | Q99592 | MYLIP Q8WY64 | 3 | EBI-3232046, EBI-6952711 | |
BINARY | Q99592 | PIK3R3 Q92569 | 3 | EBI-3232046, EBI-79893 | |
BINARY | Q99592 | ZBTB2 Q8N680 | 3 | EBI-3232046, EBI-2515601 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain, compositional bias, region, zinc finger.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 24-91 | BTB | ||||
Sequence: CDCTVLVGDAQFRAHRAVLASCSMYFHLFYKDQLDKRDIVHLNSDIVTAPAFALLLEFMYEGKLQFKD | ||||||
Compositional bias | 121-139 | Basic and acidic residues | ||||
Sequence: ATTEADSTKKEEDASSCSD | ||||||
Region | 121-164 | Disordered | ||||
Sequence: ATTEADSTKKEEDASSCSDKVESLSDGSSHIAGDLPSDEDEGED | ||||||
Region | 190-221 | Disordered | ||||
Sequence: DSAGIPQAGGEAEPHATAAGKTVASPCSSTES | ||||||
Region | 310-427 | Interaction with DNMT3A | ||||
Sequence: EPAHLAPLREDSVLRELDREDKASDDEMMTPESERVQVEGGMESSLLPYVSNILSPAGQIFMCPLCNKVFPSPHILQIHLSTHFREQDGIRSKPAADVNVPTCSLCGKTFSCMYTLKR | ||||||
Zinc finger | 370-392 | C2H2-type 1 | ||||
Sequence: FMCPLCNKVFPSPHILQIHLSTH | ||||||
Zinc finger | 410-432 | C2H2-type 2 | ||||
Sequence: PTCSLCGKTFSCMYTLKRHERTH | ||||||
Zinc finger | 438-460 | C2H2-type 3 | ||||
Sequence: YTCTQCGKSFQYSHNLSRHAVVH | ||||||
Zinc finger | 466-489 | C2H2-type 4 | ||||
Sequence: HACKWCERRFTQSGDLYRHIRKFH |
Sequence similarities
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q99592-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length522
- Mass (Da)58,354
- Last updated1997-05-01 v1
- ChecksumDE024B66E02DCE75
Q99592-2
- Name2
- Differences from canonical
- 1-1: M → MCPKGYEDSM
Computationally mapped potential isoform sequences
There are 3 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A8V8TM03 | A0A8V8TM03_HUMAN | ZBTB18 | 139 | ||
A0A8Q3WLX6 | A0A8Q3WLX6_HUMAN | ZBTB18 | 227 | ||
A0A8Q3WLD9 | A0A8Q3WLD9_HUMAN | ZBTB18 | 56 |
Features
Showing features for alternative sequence, sequence conflict, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_035381 | 1 | in isoform 2 | |||
Sequence: M → MCPKGYEDSM | ||||||
Sequence conflict | 51 | in Ref. 6; AAH36677 | ||||
Sequence: L → I | ||||||
Compositional bias | 121-139 | Basic and acidic residues | ||||
Sequence: ATTEADSTKKEEDASSCSD | ||||||
Sequence conflict | 166-262 | in Ref. 1; AAA81368 | ||||
Sequence: KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHATAAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSSLSGVENLNSSYFSSQ → IEHPAQQKGLGGRAWEHVDAIALRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U38896 EMBL· GenBank· DDBJ | AAA81368.1 EMBL· GenBank· DDBJ | mRNA | ||
X95072 EMBL· GenBank· DDBJ | CAA64468.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ001388 EMBL· GenBank· DDBJ | CAA04718.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ223321 EMBL· GenBank· DDBJ | CAA11262.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AK291408 EMBL· GenBank· DDBJ | BAF84097.1 EMBL· GenBank· DDBJ | mRNA | ||
AL590483 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC036677 EMBL· GenBank· DDBJ | AAH36677.2 EMBL· GenBank· DDBJ | mRNA |