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Protein

Zinc finger and BTB domain-containing protein 18

Gene

ZBTB18

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri370 – 392C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri410 – 432C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri438 – 460C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri466 – 489C2H2-type 4PROSITE-ProRule annotationAdd BLAST24

GO - Molecular functioni

  • DNA binding Source: UniProtKB
  • DNA binding transcription factor activity Source: ProtInc
  • metal ion binding Source: UniProtKB-KW
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
  • sequence-specific DNA binding Source: UniProtKB
  • transcription coactivator activity Source: CAFA

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SignaLinkiQ99592

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger and BTB domain-containing protein 18
Alternative name(s):
58 kDa repressor protein
Transcriptional repressor RP58
Translin-associated zinc finger protein 1
Short name:
TAZ-1
Zinc finger protein 238
Zinc finger protein C2H2-171
Gene namesi
Name:ZBTB18
Synonyms:RP58, TAZ1, ZNF238
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000179456.10
HGNCiHGNC:13030 ZBTB18
MIMi608433 gene
neXtProtiNX_Q99592

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 22 (MRD22)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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 also OMIM:612337

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi10472
MalaCardsiZBTB18
MIMi612337 phenotype
OpenTargetsiENSG00000179456
Orphaneti36367 Distal monosomy 1q
PharmGKBiPA37608

Polymorphism and mutation databases

BioMutaiZBTB18
DMDMi20141020

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000474771 – 522Zinc finger and BTB domain-containing protein 18Add BLAST522

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei157PhosphoserineBy similarity1
Cross-linki273Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei516PhosphoserineCombined sources1
Modified residuei517PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiQ99592
PeptideAtlasiQ99592
PRIDEiQ99592
ProteomicsDBi78345
78346 [Q99592-2]

PTM databases

iPTMnetiQ99592
PhosphoSitePlusiQ99592

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000179456
CleanExiHS_ZNF238
GenevisibleiQ99592 HS

Interactioni

Subunit structurei

Interacts with DNMT3A.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CTBP2P56545-35EBI-3232046,EBI-10171902

Protein-protein interaction databases

BioGridi115735, 15 interactors
IntActiQ99592, 7 interactors
STRINGi9606.ENSP00000351539

Structurei

3D structure databases

ProteinModelPortaliQ99592
SMRiQ99592
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini24 – 91BTBPROSITE-ProRule annotationAdd BLAST68

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni310 – 427Interaction with DNMT3A1 PublicationAdd BLAST118

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri370 – 392C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri410 – 432C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri438 – 460C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri466 – 489C2H2-type 4PROSITE-ProRule annotationAdd BLAST24

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00920000148950
HOGENOMiHOG000234147
HOVERGENiHBG059113
InParanoidiQ99592
OMAiPYEPAHL
OrthoDBiEOG091G0PGY
PhylomeDBiQ99592
TreeFamiTF337437

Family and domain databases

InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00651 BTB, 1 hit
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SM00355 ZnF_C2H2, 4 hits
SUPFAMiSSF54695 SSF54695, 1 hit
SSF57667 SSF57667, 3 hits
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 4 hits
PS50157 ZINC_FINGER_C2H2_2, 4 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q99592-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MEFPDHSRHL LQCLSEQRHQ GFLCDCTVLV GDAQFRAHRA VLASCSMYFH
60 70 80 90 100
LFYKDQLDKR DIVHLNSDIV TAPAFALLLE FMYEGKLQFK DLPIEDVLAA
110 120 130 140 150
ASYLHMYDIV KVCKKKLKEK ATTEADSTKK EEDASSCSDK VESLSDGSSH
160 170 180 190 200
IAGDLPSDED EGEDEKLNIL PSKRDLAAEP GNMWMRLPSD SAGIPQAGGE
210 220 230 240 250
AEPHATAAGK TVASPCSSTE SLSQRSVTSV RDSADVDCVL DLSVKSSLSG
260 270 280 290 300
VENLNSSYFS SQDVLRSNLV QVKVEKEASC DESDVGTNDY DMEHSTVKES
310 320 330 340 350
VSTNNRVQYE PAHLAPLRED SVLRELDRED KASDDEMMTP ESERVQVEGG
360 370 380 390 400
MESSLLPYVS NILSPAGQIF MCPLCNKVFP SPHILQIHLS THFREQDGIR
410 420 430 440 450
SKPAADVNVP TCSLCGKTFS CMYTLKRHER THSGEKPYTC TQCGKSFQYS
460 470 480 490 500
HNLSRHAVVH TREKPHACKW CERRFTQSGD LYRHIRKFHC ELVNSLSVKS
510 520
EALSLPTVRD WTLEDSSQEL WK
Length:522
Mass (Da):58,354
Last modified:May 1, 1997 - v1
Checksum:iDE024B66E02DCE75
GO
Isoform 2 (identifier: Q99592-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MCPKGYEDSM

Show »
Length:531
Mass (Da):59,366
Checksum:iEA03FF68F0FD4668
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti51L → I in AAH36677 (PubMed:15489334).Curated1
Sequence conflicti166 – 262KLNIL…YFSSQ → IEHPAQQKGLGGRAWEHVDA IALRLSRHPPGWRRGRATRH SSWKNSSQPLQLNRVFVPE in AAA81368 (PubMed:7633419).CuratedAdd BLAST97

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012768132E → G1 PublicationCorresponds to variant dbSNP:rs1048824Ensembl.1
Natural variantiVAR_079032186 – 522Missing Found in a patient with Rett syndrome-like phenotype; unknown pathological significance. 1 PublicationAdd BLAST337

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0353811M → MCPKGYEDSM in isoform 2. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U38896 mRNA Translation: AAA81368.1
X95072 mRNA Translation: CAA64468.1
AJ001388 mRNA Translation: CAA04718.1
AJ223321 Genomic DNA Translation: CAA11262.1
AK291408 mRNA Translation: BAF84097.1
AL590483 Genomic DNA No translation available.
BC036677 mRNA Translation: AAH36677.2
CCDSiCCDS1622.1 [Q99592-2]
PIRiI39200
RefSeqiNP_001265125.1, NM_001278196.1 [Q99592-1]
NP_006343.2, NM_006352.4 [Q99592-1]
NP_991331.1, NM_205768.2 [Q99592-2]
XP_005273063.1, XM_005273006.2 [Q99592-1]
XP_016855549.1, XM_017000060.1 [Q99592-1]
UniGeneiHs.69997

Genome annotation databases

EnsembliENST00000358704; ENSP00000351539; ENSG00000179456 [Q99592-2]
ENST00000622512; ENSP00000481278; ENSG00000179456 [Q99592-1]
GeneIDi10472
KEGGihsa:10472
UCSCiuc001iad.6 human [Q99592-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiZBT18_HUMAN
AccessioniPrimary (citable) accession number: Q99592
Secondary accession number(s): A8K5U3
, Q13397, Q5VU40, Q8N463, Q9UD99
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2002
Last sequence update: May 1, 1997
Last modified: June 20, 2018
This is version 176 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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