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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ZNF451 Gene

protein-coding GIFtS: 50
GCID: GC06P056951

Zinc Finger Protein 451

3 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Zinc Finger Protein 451¹ ²
Coactivator For Steroid Receptors² ³
COASTER² ³
dJ417I1.1²
KIAA0576³
KIAA1702³

External Ids:	HGNC: 21091¹	Entrez Gene: 26036²	Ensembl: ENSG00000112200⁷	UniProtKB: Q9Y4E5³

Export aliases for ZNF451 gene to outside databases

Previous GC identifers: GC06P056957 GC06P057001 GC06P057062 GC06P056788

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for ZNF451 Gene:

ZNF451 (zinc finger protein 451) is a protein-coding gene. Diseases associated with ZNF451 include benign paroxysmal positional nystagmus, and angelman syndrome. GO annotations related to this gene include DNA binding and zinc ion binding.

UniProtKB/Swiss-Prot: ZN451_HUMAN, Q9Y4E5

Function: May be involved in transcriptional regulation. Coactivator for steroid receptors

Gene Wiki entry for ZNF451 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NT_007592.15 NC_018917.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ZNF451 gene promoter:
ATF-2 Lmo2 POU3F2 (N-Oct-5b) CUTL1 E4BP4 GATA-1 FOXJ2 (long isoform) FOXJ2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ZNF451 promoter sequence

Search SABiosciences Chromatin IP Primers for ZNF451

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZNF451

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p12.1 Ensembl cytogenetic band: 6p12.1 HGNC cytogenetic band: 6p12.1

ZNF451 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNF451 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P056951: view genomic region (about GC identifiers)

Start:	56,951,642 bp from pter	End:	57,035,105 bp from pter
Size:	83,464 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ZN451_HUMAN, Q9Y4E5 (See protein sequence)

Recommended Name: Zinc finger protein 451

Size: 1061 amino acids; 121484 Da

Subcellular location: Nucleus (Potential)

Sequence caution: Sequence=AAH21712.2; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=AAH42450.1;

Type=Miscellaneous discrepancy; Note=Contaminating sequence; Sequence=AAH58853.1; Type=Miscellaneous discrepancy;

Note=Contaminating sequence; Sequence=BAA25502.1; Type=Erroneous initiation; Sequence=BAB21793.1; Type=Erroneous

initiation;

Secondary accessions: Q5VVE9 Q5VVF1 Q86YE4 Q8N380 Q8TD15 Q9C0G1 Q9NQM1

Alternative splicing: 3 isoforms: Q9Y4E5-1 Q9Y4E5-2 Q9Y4E5-4

Explore the universe of human proteins at neXtProt for ZNF451: NX_Q9Y4E5

Explore proteomics data for ZNF451 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q9Y4E5

ZNF451 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (3 alternative transcripts):

NP_001026794.1 NP_001244202.1 NP_056370.2

ENSEMBL proteins:

ENSP00000424723 ENSP00000427558 ENSP00000359740 ENSP00000350083 ENSP00000359742

ENSP00000359736 ENSP00000421786 ENSP00000421645 ENSP00000359744 ENSP00000424329

ENSP00000425047

Human Recombinant Protein Products for ZNF451:

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	Cloud-Clone Corp. Proteins for ZNF451

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--

ZNF451 for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

ZNF: Zinc fingers, C2H2-type

2 InterPro protein domains:

IPR015880 Znf_C2H2-like

IPR007087 Znf_C2H2

Graphical View of Domain Structure for InterPro Entry Q9Y4E5

ProtoNet protein and cluster: Q9Y4E5

UniProtKB/Swiss-Prot: ZN451_HUMAN, Q9Y4E5

Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family

Similarity: Contains 11 C2H2-type zinc fingers

ZNF451 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ZN451_HUMAN, Q9Y4E5

Function: May be involved in transcriptional regulation. Coactivator for steroid receptors

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0005515	protein binding	IPI	16189514
GO:0008270	zinc ion binding	--	--
GO:0046872	metal ion binding	IEA	--

ZNF451 for ontologies About GeneDecksing

Animal Models:

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In Situ Assay
Products:

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ZNF451

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

5/23 Interacting proteins for ZNF451 (Q9Y4E5^{2, 3} ENSP00000359740⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FXR2	P51116²^,³, ENSP00000250113⁴	MINT-67534 I2D: score=5 STRING: ENSP00000250113
RNF40	O75150²^,³, ENSP00000325677⁴	MINT-68396 I2D: score=5 STRING: ENSP00000325677
PRPF40A	O75400²^,³	MINT-61860 I2D: score=3
SNIP1	Q8TAD8²^,³	MINT-62156 I2D: score=3
CALCOCO2	Q13137²^,³, ENSP00000258947⁴	MINT-67025 I2D: score=5 STRING: ENSP00000258947

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IEA	--

ZNF451 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ZNF451 (ZN451)

Search CenterWatch for drugs/clinical trials and news about ZNF451 / ZN451

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ZNF451 gene (3 alternative transcripts):

NM_001031623.2 NM_001257273.1 NM_015555.2

Unigene Cluster for ZNF451:

Zinc finger protein 451

Hs.485628 [show with all ESTs]

Unigene Representative Sequence: NM_001257273

18 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000515290 ENST00000510483 ENST00000370706(uc003pdl.3 uc003pdm.1 uc003pdn.1)

ENST00000357489 ENST00000370708(uc011dxn.2 uc003pdo.3) ENST00000370702

ENST00000444273(uc003pdk.1) ENST00000370711 ENST00000508603 ENST00000491832

ENST00000370710 ENST00000502749 ENST00000504603 ENST00000509071 ENST00000510989

ENST00000509251 ENST00000508548 ENST00000504364

miRNA Products:
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		8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate ZNF451 (see all 18):
		hsa-miR-4307 hsa-miR-607 hsa-miR-495 hsa-miR-3133 hsa-miR-570 hsa-miR-3908 hsa-miR-889 hsa-miR-630

		SwitchGear 3'UTR luciferase reporter plasmid: ZNF451 3' UTR sequence

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Additional mRNA sequence:

AB011148.1 AB051489.1 AK000983.1 AK023072.1 AK027074.1 AK027805.1 AK075174.1 AK096186.1

AK225806.1 AK302577.1 AY055204.1 BC021712.2 BC042450.1 BC058853.1 BC098382.1 BX648081.1

BX648336.1

21 DOTS entries:

DT.446327 DT.95196572 DT.100776855 DT.109953 DT.97775114 DT.92432129 DT.97786078 DT.218270

DT.100637749 DT.121366082 DT.65285369 DT.75127324 DT.121366113 DT.75193084 DT.75195288 DT.92024035

DT.95198742 DT.95313296 DT.121366153 DT.95102529 DT.95229832

24/305 AceView cDNA sequences (see all 305):

CB853999 AA045128 BQ050586 CN481259 BC058853 BC021712 AW673787 AW662230

AI914234 AA425677 CA447105 AU118128 AW665980 AB011148 BP371539 AA102087

AY055204 AW674115 AW237764 AI377651 AI868226 AW965554 W68279 BQ717205

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ZNF451 (see all 6) About this scheme

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:									-		-

ECgene alternative splicing isoforms for ZNF451

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ZNF451 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: ACTGTTAAGA

About this image

See ZNF451 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ZNF451

SOURCE GeneReport for Unigene cluster: Hs.485628

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for ZNF451 gene from 5/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Zfp451^{1 , 5}	zinc finger protein 451^{1, 5}	82.87(n)¹ 79.77(a)¹		1 (12.81 cM)⁵ 98403¹ NM_133817.2¹ NP_598578.1¹ 33760472⁵
chicken (Gallus gallus)	Aves	ZNF451¹	zinc finger protein 451	66.92(n) 59.52(a)		421881 XM_419898.3 XP_419898.3
lizard (Anolis carolinensis)	Reptilia	ZNF451⁶	zinc finger protein 451	52(a)	1 ↔ 1	1(162892731-162947846)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.3549²	Transcribed sequence with weak similarity to protein more	78.15(n)		AL860524.2
zebrafish (Danio rerio)	Actinopterygii	znf451¹	zinc finger protein 451	50.54(n) 41.98(a)		557758 XM_001923135.2 XP_001923170.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ZNF451 gene

2 SIMAP similar genes for ZNF451 using alignment to 10 protein entries: ZN451_HUMAN (see all proteins):

KIAA1586 ZNF844

ZNF451 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs146255908^1,2		--	56953022(+)	`ACTGTC/GAGCCA`	3	--	us2k¹		0	--	--	--	--
rs186497552^1,2		--	56953054(+)	`AATTAC/TGCAGT`	3	--	us2k¹		0	--	--	--	--
rs190837208^1,2		--	56953102(+)	`AACATA/GGTTCT`	3	--	us2k¹		0	--	--	--	--
rs182330950^1,2		--	56953237(+)	`TACATC/TCCCCA`	3	--	us2k¹		0	--	--	--	--
rs139396356^1,2	C	--	56953329(+)	`ACAGTA/TACTGA`	3	--	us2k¹		0	--	--	--	--
rs62415879^1,2	C	--	56953447(+)	`ACCAGC/TCCACT`	3	--	us2k¹		4		NA WA EA	360
rs7766234^1,2	C,A	--	56953543(+)	`ATGCAC/GGTCTG`	3	--	us2k¹		4		NA WA EA	360
rs12199573^1,2	C	--	56953711(+)	`GGAATC/TTGAGA`	3	--	us2k¹		1		NA	2
rs79792953^1,2		--	56953732(+)	`TTTGTG/TTTTTT`	3	--	us2k¹		0	--	--	--	--
rs76634460^1,2	C	--	56953833(+)	`CTCTCC/GGCCTC`	3	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ZNF451 (56951642 - 57035105 bp)

Structural Variations
Database of Genomic Variants (DGV) 4 variations for ZNF451: About this table

Variant ID	Type	Subtype	PubMed ID
esv2732127	CNV	Deletion	23290073
nsv5316	CNV	Insertion	18451855
nsv462949	CNV	Loss	19166990
nsv350038	CNV	Loss	16902084

Human Gene Mutation Database (HGMD): ZNF451

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ZNF451 for disorders About GeneDecksing

3 diseases for ZNF451: About MalaCards

benign paroxysmal positional nystagmus angelman syndrome schizophrenia

Export disorders for ZNF451 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ZNF451 gene, integrated from 9 sources (see all 35):
(articles sorted by number of sources associating them with ZNF451)

Utopia: connect your pdf to the dynamic
world of online information

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. (PubMed id 9628581)^{1, 2, 3} Nagase T....Ohara O. (1998)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (2003)
Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)^{1, 2} Nagase T.... Ohara O. (2000)
Development and application of a DNA microarray-based yeast two-hybrid system. (PubMed id 23275563)¹ Suter B....Wanker E.E. (2013)
Identification of human protein interaction domains us ing an ORFeome-based yeast two-hybrid fragment library. (PubMed id 23718855)¹ Waaijers S....Boxem M. (2013)
A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)¹ Weimann M.... Stelzl U. (2013)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)¹ Povlsen L.K....Choudhary C. (2012)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 26036	HGNC: 21091	AceView: ZNF451	Ensembl:ENSG00000112200	euGenes: HUgn26036
ECgene: ZNF451	H-InvDB: ZNF451

(According to HUGE)
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HUGE: KIAA1702 KIAA0576

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ZNF451	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ZNF451 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ZNF451 gene:
Search GeneIP for patents involving ZNF451

GeneCards and IP:
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Zinc Finger Protein 451

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