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Aliases for ZNF451 Gene

Aliases for ZNF451 Gene

  • Zinc Finger Protein 451 2 3 4 5
  • Coactivator For Steroid Receptors 3 4
  • COASTER 3 4
  • E3 SUMO-Protein Ligase ZNF451 3
  • EC 6.3.2.- 4
  • DJ417I1.1 3
  • KIAA0576 4
  • KIAA1702 4

External Ids for ZNF451 Gene

Previous GeneCards Identifiers for ZNF451 Gene

  • GC06P056957
  • GC06P057001
  • GC06P056788
  • GC06P056951

Summaries for ZNF451 Gene

GeneCards Summary for ZNF451 Gene

ZNF451 (Zinc Finger Protein 451) is a Protein Coding gene. Diseases associated with ZNF451 include Brown-Sequard Syndrome and Carotid Artery Dissection.

UniProtKB/Swiss-Prot for ZNF451 Gene

  • E3 SUMO-protein ligase; has a preference for SUMO2 and SUMO3 and facilitates UBE2I/UBC9-mediated sumoylation of target proteins (PubMed:26524493, PubMed:26524494). Plays a role in protein SUMO2 modification in response to stress caused by DNA damage and by proteasome inhibitors (in vitro). Required for MCM4 sumoylation (By similarity). Has no activity with SUMO1 (PubMed:26524493). Preferentially transfers an additional SUMO2 chain onto the SUMO2 consensus site Lys-11 (PubMed:26524493). Negatively regulates transcriptional activation mediated by the SMAD4 complex in response to TGF-beta signaling. Inhibits EP300-mediated acetylation of histone H3 at Lys-9 (PubMed:24324267). Plays a role in regulating the transcription of AR targets (PubMed:18656483).

Gene Wiki entry for ZNF451 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF451 Gene

Genomics for ZNF451 Gene

Regulatory Elements for ZNF451 Gene

Enhancers for ZNF451 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G057171 1.1 ENCODE 15.6 +87.0 86966 5.0 HNRNPUL1 PKNOX1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 KIAA1586 ZNF451 BAG2 LOC101927211
GH06G057045 1.4 ENCODE dbSUPER 11.4 -40.4 -40383 1.0 HDGF PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 BEND6 KIAA1586 ZNF451 BAG2 LOC101927211 ENSG00000272316 GC06M057041
GH06G057181 1.1 ENCODE 11 +95.3 95262 2.0 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 KIAA1586 RAB23 ZNF451 ENSG00000272316 LOC101927211
GH06G057176 0.7 Ensembl ENCODE 11 +90.7 90745 2.2 PRDM6 HLF ZNF266 KIAA1586 ZNF451 LOC101927211 RAB23
GH06G056226 0.8 ENCODE 5.1 -859.5 -859532 1.5 ELF3 FOXA2 ATF1 ARID4B RARA ZNF335 ZNF366 CREM CEBPB NFIL3 COL21A1 ZNF451 GC06M056228 LOC105375100
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZNF451 on UCSC Golden Path with GeneCards custom track

Genomic Location for ZNF451 Gene

Chromosome:
6
Start:
57,086,844 bp from pter
End:
57,170,307 bp from pter
Size:
83,464 bases
Orientation:
Plus strand

Genomic View for ZNF451 Gene

Genes around ZNF451 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF451 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF451 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF451 Gene

Proteins for ZNF451 Gene

  • Protein details for ZNF451 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4E5-ZN451_HUMAN
    Recommended name:
    E3 SUMO-protein ligase ZNF451
    Protein Accession:
    Q9Y4E5
    Secondary Accessions:
    • Q5VVE9
    • Q5VVF1
    • Q86YE4
    • Q8N380
    • Q8TD15
    • Q9C0G1
    • Q9NQM1

    Protein attributes for ZNF451 Gene

    Size:
    1061 amino acids
    Molecular mass:
    121484 Da
    Quaternary structure:
    • Homooligomer. Interacts (via N-terminal region) with SUMO1 (PubMed:18656483). Interacts (via N-terminal region) with SUMO2 (PubMed:18656483, PubMed:26524494). Interacts simultaneously with two SUMO2 chains (PubMed:26524493, PubMed:26524494). Identified in a complex with SUMO2 and UBE2I/UBC9, where one ZNF451 interacts with one UBE2I/UBC9 and two SUMO2 chains, one bound to the UBE2I/UBC9 active site and the other to another region of the same UBE2I/UBC9 molecule (PubMed:26524493, PubMed:26524494). Interacts (via C-terminus) with ubiquitin (PubMed:18656483). Interacts (via N-terminal zinc-finger domains) with SMAD4 (via MH2 domain). Interacts with SMAD2 and SMAD3. Identified in a complex that contains at least ZNF451, SMAD2, SMAD3 and SMAD4. Interacts with EP300. Inhibits interaction between EP300 and the SMAD4 complex (PubMed:24324267).
    SequenceCaution:
    • Sequence=AAH21712.2; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=AAH42450.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305}; Sequence=AAH58853.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305}; Sequence=BAA25502.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB21793.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ZNF451 Gene

    Alternative splice isoforms for ZNF451 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNF451 Gene

Post-translational modifications for ZNF451 Gene

  • Sumoylated. Predominantly sumoylated on the N-terminal region that is important for interaction with SUMO1 and SUMO2 (PubMed:18656483, PubMed:26524493, PubMed:26524494). Sumoylation is important for localization in nuclear granules; desumoylation leads to diffuse nucleoplasmic location (PubMed:18656483). Autosumoylated (in vitro) (PubMed:26524493, PubMed:26524494). Sumoylation enhances E3 SUMO-protein ligase activity (PubMed:26524494).
  • Ubiquitination at posLast=106106, posLast=139139, posLast=144144, isoforms=2153, posLast=316316, posLast=357357, posLast=387387, posLast=423423, isoforms=2434, posLast=452452, isoforms=2464, isoforms=2585, isoforms=2779, posLast=790790, isoforms=2817, isoforms=2827, posLast=832832, posLast=845845, posLast=852852, isoforms=286, posLast=356356, and isoforms=522
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ZNF451 Gene

Domains & Families for ZNF451 Gene

Gene Families for ZNF451 Gene

Protein Domains for ZNF451 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y4E5

UniProtKB/Swiss-Prot:

ZN451_HUMAN :
  • Binds UBE2I/UBC9 and two SUMO2 molecules via its N-terminus. The most N-terminal region interacts with the SUMO2 chain that is covalently bound to the UBE2I/UBC9 active site, while the second region interacts with another SUMO2 that is non-covalently associated with the same UBE2I/UBC9 chain.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Domain:
  • Binds UBE2I/UBC9 and two SUMO2 molecules via its N-terminus. The most N-terminal region interacts with the SUMO2 chain that is covalently bound to the UBE2I/UBC9 active site, while the second region interacts with another SUMO2 that is non-covalently associated with the same UBE2I/UBC9 chain.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZNF451: view

Function for ZNF451 Gene

Molecular function for ZNF451 Gene

UniProtKB/Swiss-Prot Function:
E3 SUMO-protein ligase; has a preference for SUMO2 and SUMO3 and facilitates UBE2I/UBC9-mediated sumoylation of target proteins (PubMed:26524493, PubMed:26524494). Plays a role in protein SUMO2 modification in response to stress caused by DNA damage and by proteasome inhibitors (in vitro). Required for MCM4 sumoylation (By similarity). Has no activity with SUMO1 (PubMed:26524493). Preferentially transfers an additional SUMO2 chain onto the SUMO2 consensus site Lys-11 (PubMed:26524493). Negatively regulates transcriptional activation mediated by the SMAD4 complex in response to TGF-beta signaling. Inhibits EP300-mediated acetylation of histone H3 at Lys-9 (PubMed:24324267). Plays a role in regulating the transcription of AR targets (PubMed:18656483).

Enzyme Numbers (IUBMB) for ZNF451 Gene

Gene Ontology (GO) - Molecular Function for ZNF451 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001106 RNA polymerase II transcription corepressor activity IMP 24324267
GO:0003676 nucleic acid binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0016874 ligase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF451: view
genes like me logo Genes that share phenotypes with ZNF451: view

Animal Models for ZNF451 Gene

MGI Knock Outs for ZNF451:

Animal Model Products

CRISPR Products

miRNA for ZNF451 Gene

miRTarBase miRNAs that target ZNF451

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ZNF451 Gene

Localization for ZNF451 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF451 Gene

Nucleus. Nucleus, PML body. Nucleus, nucleoplasm. Note=Colocalizes with UBE2I/UBC9, SUMO1 and SUMO2 in nuclear granules; this probably requires sumoylation. Desumoylation leads to diffuse nucleoplasmic location. {ECO:0000269 PubMed:18656483}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZNF451 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ZNF451 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 24324267
GO:0005654 nucleoplasm IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016605 PML body IEA --
genes like me logo Genes that share ontologies with ZNF451: view

Pathways & Interactions for ZNF451 Gene

SuperPathways for ZNF451 Gene

No Data Available

UniProtKB/Swiss-Prot Q9Y4E5-ZN451_HUMAN

  • Pathway: Protein modification; protein sumoylation.

Gene Ontology (GO) - Biological Process for ZNF451 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0016925 protein sumoylation IEA --
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IMP 24324267
GO:0060633 negative regulation of transcription initiation from RNA polymerase II promoter IMP 24324267
genes like me logo Genes that share ontologies with ZNF451: view

No data available for Pathways by source and SIGNOR curated interactions for ZNF451 Gene

Transcripts for ZNF451 Gene

Unigene Clusters for ZNF451 Gene

Zinc finger protein 451:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF451 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17
SP1: - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: -
SP5: - -
SP6:

Relevant External Links for ZNF451 Gene

GeneLoc Exon Structure for
ZNF451
ECgene alternative splicing isoforms for
ZNF451

Expression for ZNF451 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZNF451 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZNF451 Gene

This gene is overexpressed in Cerebrospinal fluid (67.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZNF451 Gene



NURSA nuclear receptor signaling pathways regulating expression of ZNF451 Gene:

ZNF451

SOURCE GeneReport for Unigene cluster for ZNF451 Gene:

Hs.485628

Evidence on tissue expression from TISSUES for ZNF451 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with ZNF451: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF451 Gene

Orthologs for ZNF451 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF451 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZNF451 34 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia ZNF451 34 35
  • 91.18 (n)
cow
(Bos Taurus)
Mammalia ZNF451 34 35
  • 84.46 (n)
mouse
(Mus musculus)
Mammalia Zfp451 34 16 35
  • 82.87 (n)
rat
(Rattus norvegicus)
Mammalia Zfp451 34
  • 82.64 (n)
oppossum
(Monodelphis domestica)
Mammalia ZNF451 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 71 (a)
OneToMany
-- 35
  • 65 (a)
OneToMany
chicken
(Gallus gallus)
Aves ZNF451 34 35
  • 67.08 (n)
lizard
(Anolis carolinensis)
Reptilia ZNF451 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia znf451 34
  • 59.56 (n)
Str.3549 34
zebrafish
(Danio rerio)
Actinopterygii znf451 34 35
  • 50.78 (n)
Species where no ortholog for ZNF451 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZNF451 Gene

ENSEMBL:
Gene Tree for ZNF451 (if available)
TreeFam:
Gene Tree for ZNF451 (if available)

Paralogs for ZNF451 Gene

genes like me logo Genes that share paralogs with ZNF451: view

No data available for Paralogs for ZNF451 Gene

Variants for ZNF451 Gene

Sequence variations from dbSNP and Humsavar for ZNF451 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000021965 -- 57,115,510(+) TCCTC(A/G)ATATG intron-variant, nc-transcript-variant
rs1000038052 -- 57,124,258(+) AGGAT(C/T)ATGTG intron-variant
rs1000040591 -- 57,152,201(+) TTTTT(-/G)CCTTT intron-variant
rs1000058192 -- 57,167,371(+) ATTAG(C/T)TACTG intron-variant
rs1000122505 -- 57,149,720(+) TCATG(A/G)CATGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ZNF451 Gene

Variant ID Type Subtype PubMed ID
dgv1781e212 CNV gain 25503493
esv2732127 CNV deletion 23290073
nsv350038 CNV deletion 16902084
nsv462949 CNV loss 19166990
nsv5316 CNV insertion 18451855
nsv603190 CNV loss 21841781
nsv970717 CNV duplication 23825009

Variation tolerance for ZNF451 Gene

Residual Variation Intolerance Score: 11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.56; 30.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZNF451 Gene

Human Gene Mutation Database (HGMD)
ZNF451
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF451

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF451 Gene

Disorders for ZNF451 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ZNF451 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
brown-sequard syndrome
  • brown-squard syndrome
carotid artery dissection
  • dissection of carotid artery
benign paroxysmal positional nystagmus
  • benign paroxysmal positional vertigo
peroneal neuropathy
  • peroneal neuropathies
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ZNF451

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZNF451
genes like me logo Genes that share disorders with ZNF451: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF451 Gene

Publications for ZNF451 Gene

  1. A new vertebrate SUMO enzyme family reveals insights into SUMO-chain assembly. (PMID: 26524493) Eisenhardt N. … Pichler A. (Nat. Struct. Mol. Biol. 2015) 2 3 4 64
  2. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4 64
  3. Structural basis for catalytic activation by the human ZNF451 SUMO E3 ligase. (PMID: 26524494) Cappadocia L. … Lima C.D. (Nat. Struct. Mol. Biol. 2015) 3 4 64
  4. Zinc finger protein 451 is a novel Smad corepressor in transforming growth factor-I^ signaling. (PMID: 24324267) Feng Y. … Feng X.H. (J. Biol. Chem. 2014) 3 4 64
  5. ZNF451 is a novel PML body- and SUMO-associated transcriptional coregulator. (PMID: 18656483) Karvonen U. … Palvimo J.J. (J. Mol. Biol. 2008) 3 4 64

Products for ZNF451 Gene

Sources for ZNF451 Gene

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