Q99592 · ZBT18_HUMAN

  • Protein
    Zinc finger and BTB domain-containing protein 18
  • Gene
    ZBTB18
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Transcriptional repressor that plays a role in various developmental processes such as myogenesis and brain development. Plays a key role in myogenesis by directly repressing the expression of ID2 and ID3, 2 inhibitors of skeletal myogenesis. Also involved in controlling cell division of progenitor cells and regulating the survival of postmitotic cortical neurons. Specifically binds the consensus DNA sequence 5'-[AC]ACATCTG[GT][AC]-3' which contains the E box core, and acts by recruiting chromatin remodeling multiprotein complexes. May also play a role in the organization of chromosomes in the nucleus.

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentheterochromatin
Cellular Componentnuclear speck
Cellular Componentnucleoplasm
Cellular Componentnucleus
Molecular FunctionDNA binding
Molecular FunctionDNA-binding transcription factor activity, RNA polymerase II-specific
Molecular FunctionDNA-binding transcription repressor activity, RNA polymerase II-specific
Molecular Functionmetal ion binding
Molecular Functionsequence-specific DNA binding
Molecular Functionsequence-specific double-stranded DNA binding
Biological Processnegative regulation of DNA-templated transcription
Biological Processnegative regulation of transcription by RNA polymerase II
Biological Processpositive regulation of transcription by RNA polymerase II
Biological Processregulation of transcription by RNA polymerase II
Biological Processskeletal muscle tissue development

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Zinc finger and BTB domain-containing protein 18
  • Alternative names
    • 58 kDa repressor protein
    • Transcriptional repressor RP58
    • Translin-associated zinc finger protein 1 (TAZ-1)
    • Zinc finger protein 238
    • Zinc finger protein C2H2-171

Gene names

    • Name
      ZBTB18
    • Synonyms
      RP58, TAZ1, ZNF238

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q99592
  • Secondary accessions
    • A8K5U3
    • Q13397
    • Q5VU40
    • Q8N463
    • Q9UD99

Proteomes

Organism-specific databases

Subcellular Location

Keywords

Disease & Variants

Involvement in disease

Intellectual developmental disorder, autosomal dominant 22 (MRD22)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    A 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 also
    MIM:612337

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_012768132in dbSNP:rs1048824
Natural variantVAR_079032186-522found in a patient with Rett syndrome-like phenotype; uncertain significance

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.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain, modified residue, modified residue (large scale data), cross-link.

TypeIDPosition(s)SourceDescription
ChainPRO_00000474771-522UniProtZinc finger and BTB domain-containing protein 18
Modified residue157UniProtPhosphoserine
Modified residue (large scale data)157PRIDEPhosphoserine
Cross-link273UniProtGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Modified residue (large scale data)333PRIDEPhosphoserine
Modified residue516UniProtPhosphoserine
Modified residue517UniProtPhosphoserine

Keywords

Proteomic databases

PTM databases

Expression

Tissue specificity

Lymphoid tissues, testis, heart, brain, skeletal muscle, and pancreas and, at much lower level, other tissues.

Gene expression databases

Organism-specific databases

Interaction

Subunit

Interacts with DNMT3A.

Binary interactions

Protein-protein interaction databases

Miscellaneous

Family & Domains

Features

Showing features for domain, compositional bias, region, zinc finger.

TypeIDPosition(s)Description
Domain24-91BTB
Compositional bias121-139Basic and acidic residues
Region121-164Disordered
Region190-221Disordered
Region310-427Interaction with DNMT3A
Zinc finger370-392C2H2-type 1
Zinc finger410-432C2H2-type 2
Zinc finger438-460C2H2-type 3
Zinc finger466-489C2H2-type 4

Sequence similarities

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete

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.

  • Length
    522
  • Mass (Da)
    58,354
  • Last updated
    1997-05-01 v1
  • Checksum
    DE024B66E02DCE75
MEFPDHSRHLLQCLSEQRHQGFLCDCTVLVGDAQFRAHRAVLASCSMYFHLFYKDQLDKRDIVHLNSDIVTAPAFALLLEFMYEGKLQFKDLPIEDVLAAASYLHMYDIVKVCKKKLKEKATTEADSTKKEEDASSCSDKVESLSDGSSHIAGDLPSDEDEGEDEKLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHATAAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSSLSGVENLNSSYFSSQDVLRSNLVQVKVEKEASCDESDVGTNDYDMEHSTVKESVSTNNRVQYEPAHLAPLREDSVLRELDREDKASDDEMMTPESERVQVEGGMESSLLPYVSNILSPAGQIFMCPLCNKVFPSPHILQIHLSTHFREQDGIRSKPAADVNVPTCSLCGKTFSCMYTLKRHERTHSGEKPYTCTQCGKSFQYSHNLSRHAVVHTREKPHACKWCERRFTQSGDLYRHIRKFHCELVNSLSVKSEALSLPTVRDWTLEDSSQELWK

Q99592-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical
    • 1-1: M → MCPKGYEDSM

Computationally mapped potential isoform sequences

There are 3 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
A0A8V8TM03A0A8V8TM03_HUMANZBTB18139
A0A8Q3WLX6A0A8Q3WLX6_HUMANZBTB18227
A0A8Q3WLD9A0A8Q3WLD9_HUMANZBTB1856

Features

Showing features for alternative sequence, sequence conflict, compositional bias.

TypeIDPosition(s)Description
Alternative sequenceVSP_0353811in isoform 2
Sequence conflict51in Ref. 6; AAH36677
Compositional bias121-139Basic and acidic residues
Sequence conflict166-262in Ref. 1; AAA81368

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
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

Genome annotation databases

Similar Proteins

Disclaimer

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