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Protein

Zinc finger and BTB domain-containing protein 42

Gene

ZBTB42

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri294 – 31623C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri334 – 35623C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri362 – 38423C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri390 – 41324C2H2-type 4PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

  • muscle organ development Source: UniProtKB
  • negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-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

HGNCiHGNC:32550. ZBTB42.

Subcellular locationi

  • Cytoplasm By similarity
  • Nucleus 1 Publication
  • Nucleusnucleoplasm By similarity

  • Note: In skeletal myofibers, highly enriched in subsynaptic nuclei at the neuromuscular junctions.By similarity

GO - Cellular componenti

  • cytoplasm Source: UniProtKB-SubCell
  • nucleoplasm Source: UniProtKB
  • nucleus Source: UniProtKB
  • plasma membrane Source: HPA
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti397 – 3971R → H in LCCS6; loss of function mutation. 1 Publication
Corresponds to variant rs730882163 [ dbSNP | Ensembl ].
VAR_073265

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi616248. phenotype.
PharmGKBiPA144596242.

Polymorphism and mutation databases

BioMutaiZBTB42.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 422422Zinc finger and BTB domain-containing protein 42PRO_0000343711Add
BLAST

Proteomic databases

PaxDbiB2RXF5.
PeptideAtlasiB2RXF5.
PRIDEiB2RXF5.

PTM databases

iPTMnetiB2RXF5.
PhosphoSiteiB2RXF5.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiB2RXF5.
CleanExiHS_ZBTB42.
GenevisibleiB2RXF5. HS.

Organism-specific databases

HPAiHPA000703.

Interactioni

Protein-protein interaction databases

BioGridi612563. 10 interactions.
STRINGi9606.ENSP00000409107.

Structurei

3D structure databases

ProteinModelPortaliB2RXF5.
SMRiB2RXF5. Positions 2-114, 296-410.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini24 – 9269BTBPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi127 – 252126Pro-richAdd
BLAST

Sequence similaritiesi

Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
Contains 4 C2H2-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri294 – 31623C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri334 – 35623C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri362 – 38423C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri390 – 41324C2H2-type 4PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00840000129682.
HOGENOMiHOG000234147.
HOVERGENiHBG059113.
InParanoidiB2RXF5.
OMAiPLCCKLF.
OrthoDBiEOG7SV0VF.
PhylomeDBiB2RXF5.
TreeFamiTF337437.

Family and domain databases

Gene3Di3.30.160.60. 3 hits.
InterProiIPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00651. BTB. 1 hit.
[Graphical view]
SMARTiSM00225. BTB. 1 hit.
SM00355. ZnF_C2H2. 4 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 4 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti232 – 2321E → K in AAI57834 (PubMed:15489334).Curated
Sequence conflicti232 – 2321E → K in AAI71822 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti397 – 3971R → H in LCCS6; loss of function mutation. 1 Publication
Corresponds to variant rs730882163 [ dbSNP | Ensembl ].
VAR_073265

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.
UniGeneiHs.170853.

Genome annotation databases

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

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.
UniGeneiHs.170853.

3D structure databases

ProteinModelPortaliB2RXF5.
SMRiB2RXF5. Positions 2-114, 296-410.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi612563. 10 interactions.
STRINGi9606.ENSP00000409107.

PTM databases

iPTMnetiB2RXF5.
PhosphoSiteiB2RXF5.

Polymorphism and mutation databases

BioMutaiZBTB42.

Proteomic databases

PaxDbiB2RXF5.
PeptideAtlasiB2RXF5.
PRIDEiB2RXF5.

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.
GeneCardsiZBTB42.
HGNCiHGNC:32550. ZBTB42.
HPAiHPA000703.
MIMi613915. gene.
616248. phenotype.
neXtProtiNX_B2RXF5.
PharmGKBiPA144596242.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00840000129682.
HOGENOMiHOG000234147.
HOVERGENiHBG059113.
InParanoidiB2RXF5.
OMAiPLCCKLF.
OrthoDBiEOG7SV0VF.
PhylomeDBiB2RXF5.
TreeFamiTF337437.

Miscellaneous databases

ChiTaRSiZBTB42. human.
GenomeRNAii100128927.
PROiB2RXF5.
SOURCEiSearch...

Gene expression databases

BgeeiB2RXF5.
CleanExiHS_ZBTB42.
GenevisibleiB2RXF5. HS.

Family and domain databases

Gene3Di3.30.160.60. 3 hits.
InterProiIPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00651. BTB. 1 hit.
[Graphical view]
SMARTiSM00225. BTB. 1 hit.
SM00355. ZnF_C2H2. 4 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 4 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain and Brain cortex.
  3. "Characterization of the ZBTB42 gene in humans and mice."
    Devaney S.A., Mate S.E., Devaney J.M., Hoffman E.P.
    Hum. Genet. 129:433-441(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  4. "ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6)."
    Patel N., Smith L.L., Faqeih E., Mohamed J., Gupta V.A., Alkuraya F.S.
    Hum. Mol. Genet. 23:6584-6593(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN LCCS6, VARIANT LCCS6 HIS-397, CHARACTERIZATION OF VARIANT LCCS6 HIS-397.

Entry informationi

Entry nameiZBT42_HUMAN
AccessioniPrimary (citable) accession number: B2RXF5
Secondary accession number(s): B7ZW21
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: November 24, 2009
Last modified: July 6, 2016
This is version 77 of the entry and version 2 of the sequence. [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. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.