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Protein

Zinc finger and BTB domain-containing protein 42

Gene

ZBTB42

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

Functioni

Transcriptional repressor. Specifically binds DNA and probably acts by recruiting chromatin remodeling multiprotein complexes.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri294 – 316C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri334 – 356C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri362 – 384C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri390 – 413C2H2-type 4PROSITE-ProRule annotationAdd BLAST24

GO - Molecular functioni

GO - Biological processi

  • cellular response to DNA damage stimulus Source: GO_Central
  • muscle organ development Source: UniProtKB
  • negative regulation of transcription by RNA polymerase II Source: Ensembl

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger and BTB domain-containing protein 42
Gene namesi
Name:ZBTB42
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000179627.9
HGNCiHGNC:32550 ZBTB42
MIMi613915 gene
neXtProtiNX_B2RXF5

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

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Lethal congenital contracture syndrome 6 (LCCS6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS6 features include severe polyhydramnios and absent stomach, in addition to multiple contracture deformities.
See also OMIM:616248
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073265397R → H in LCCS6; loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs730882163EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi100128927
MalaCardsiZBTB42
MIMi616248 phenotype
OpenTargetsiENSG00000179627
PharmGKBiPA144596242

Polymorphism and mutation databases

BioMutaiZBTB42

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003437111 – 422Zinc finger and BTB domain-containing protein 42Add BLAST422

Proteomic databases

PaxDbiB2RXF5
PRIDEiB2RXF5
ProteomicsDBi3461

PTM databases

iPTMnetiB2RXF5
PhosphoSitePlusiB2RXF5

Expressioni

Tissue specificityi

Expressed in skeletal muscle (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000179627 Expressed in 114 organ(s), highest expression level in amniotic fluid
CleanExiHS_ZBTB42
GenevisibleiB2RXF5 HS

Organism-specific databases

HPAiHPA000703
HPA066961

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi612563, 11 interactors
IntActiB2RXF5, 49 interactors
STRINGi9606.ENSP00000409107

Structurei

3D structure databases

ProteinModelPortaliB2RXF5
SMRiB2RXF5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini24 – 92BTBPROSITE-ProRule annotationAdd BLAST69

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi127 – 252Pro-richAdd BLAST126

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri294 – 316C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri334 – 356C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri362 – 384C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri390 – 413C2H2-type 4PROSITE-ProRule annotationAdd BLAST24

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00930000150831
HOGENOMiHOG000234147
HOVERGENiHBG059113
InParanoidiB2RXF5
OMAiYEGRMEF
OrthoDBiEOG091G0A78
PhylomeDBiB2RXF5
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
PF00096 zf-C2H2, 2 hits
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SM00355 ZnF_C2H2, 4 hits
SUPFAMiSSF54695 SSF54695, 1 hit
SSF57667 SSF57667, 2 hits
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 4 hits
PS50157 ZINC_FINGER_C2H2_2, 4 hits

Sequencei

Sequence statusi: Complete.

B2RXF5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEFPEHGGRL LGRLRQQREL GFLCDCTVLV GDARFPAHRA VLAACSVYFH
60 70 80 90 100
LFYRDRPAGS RDTVRLNGDI VTAPAFGRLL DFMYEGRLDL RSLPVEDVLA
110 120 130 140 150
AASYLHMYDI VKVCKGRLQE KDRSLDPGNP APGAEPAQPP CPWPVWTADL
160 170 180 190 200
CPAARKAKLP PFGVKAALPP RASGPPPCQV PEESDQALDL SLKSGPRQER
210 220 230 240 250
VHPPCVLQTP LCSQRQPGAQ PLVKDERDSL SEQEESSSSR SPHSPPKPPP
260 270 280 290 300
VPAAKGLVVG LQPLPLSGEG SRELELGAGR LASEDELGPG GPLCICPLCS
310 320 330 340 350
KLFPSSHVLQ LHLSAHFRER DSTRARLSPD GVAPTCPLCG KTFSCTYTLK
360 370 380 390 400
RHERTHSGEK PYTCVQCGKS FQYSHNLSRH TVVHTREKPH ACRWCERRFT
410 420
QSGDLYRHVR KFHCGLVKSL LV
Length:422
Mass (Da):46,491
Last modified:November 24, 2009 - v2
Checksum:iCA057072A5C67DE8
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti232E → K in AAI57834 (PubMed:15489334).Curated1
Sequence conflicti232E → K in AAI71822 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073265397R → H in LCCS6; loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs730882163EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL590327 Genomic DNA No translation available.
BC157833 mRNA Translation: AAI57834.1
BC171822 mRNA Translation: AAI71822.1
CCDSiCCDS45174.1
RefSeqiNP_001131073.1, NM_001137601.2
XP_016876400.1, XM_017020911.1
UniGeneiHs.170853

Genome annotation databases

EnsembliENST00000342537; ENSP00000409107; ENSG00000179627
ENST00000555360; ENSP00000450673; ENSG00000179627
GeneIDi100128927
KEGGihsa:100128927
UCSCiuc001ypp.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL590327 Genomic DNA No translation available.
BC157833 mRNA Translation: AAI57834.1
BC171822 mRNA Translation: AAI71822.1
CCDSiCCDS45174.1
RefSeqiNP_001131073.1, NM_001137601.2
XP_016876400.1, XM_017020911.1
UniGeneiHs.170853

3D structure databases

ProteinModelPortaliB2RXF5
SMRiB2RXF5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi612563, 11 interactors
IntActiB2RXF5, 49 interactors
STRINGi9606.ENSP00000409107

PTM databases

iPTMnetiB2RXF5
PhosphoSitePlusiB2RXF5

Polymorphism and mutation databases

BioMutaiZBTB42

Proteomic databases

PaxDbiB2RXF5
PRIDEiB2RXF5
ProteomicsDBi3461

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342537; ENSP00000409107; ENSG00000179627
ENST00000555360; ENSP00000450673; ENSG00000179627
GeneIDi100128927
KEGGihsa:100128927
UCSCiuc001ypp.4 human

Organism-specific databases

CTDi100128927
DisGeNETi100128927
EuPathDBiHostDB:ENSG00000179627.9
GeneCardsiZBTB42
HGNCiHGNC:32550 ZBTB42
HPAiHPA000703
HPA066961
MalaCardsiZBTB42
MIMi613915 gene
616248 phenotype
neXtProtiNX_B2RXF5
OpenTargetsiENSG00000179627
PharmGKBiPA144596242
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00930000150831
HOGENOMiHOG000234147
HOVERGENiHBG059113
InParanoidiB2RXF5
OMAiYEGRMEF
OrthoDBiEOG091G0A78
PhylomeDBiB2RXF5
TreeFamiTF337437

Miscellaneous databases

ChiTaRSiZBTB42 human
GenomeRNAii100128927
PROiPR:B2RXF5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179627 Expressed in 114 organ(s), highest expression level in amniotic fluid
CleanExiHS_ZBTB42
GenevisibleiB2RXF5 HS

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
PF00096 zf-C2H2, 2 hits
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SM00355 ZnF_C2H2, 4 hits
SUPFAMiSSF54695 SSF54695, 1 hit
SSF57667 SSF57667, 2 hits
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 4 hits
PS50157 ZINC_FINGER_C2H2_2, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiZBT42_HUMAN
AccessioniPrimary (citable) accession number: B2RXF5
Secondary accession number(s): B7ZW21
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: November 24, 2009
Last modified: November 7, 2018
This is version 97 of the entry and version 2 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

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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