Human Gene ZNF521 (ENST00000538137.6) from GENCODE V44
  Description: Transcription factor that can both act as an activator or a repressor depending on the context. Involved in BMP signaling and in the regulation of the immature compartment of the hematopoietic system. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved specification of B-cell lineage; this interaction preventing EBF1 to bind DNA and activate target genes. (from UniProt Q96K83)
Gencode Transcript: ENST00000538137.6
Gencode Gene: ENSG00000198795.11
Transcript (Including UTRs)
   Position: hg38 chr18:25,062,593-25,352,155 Size: 289,563 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr18:25,062,712-25,350,946 Size: 288,235 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:25,062,593-25,352,155)mRNA (may differ from genome)Protein (1311 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
PubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ZN521_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein 521; AltName: Full=Early hematopoietic zinc finger protein; AltName: Full=LYST-interacting protein 3;
FUNCTION: Transcription factor that can both act as an activator or a repressor depending on the context. Involved in BMP signaling and in the regulation of the immature compartment of the hematopoietic system. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved specification of B-cell lineage; this interaction preventing EBF1 to bind DNA and activate target genes.
SUBUNIT: Interacts with EBF1. Interacts with SMAD1 and SMAD4.
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Predominantly expressed in hematopoietic cells. Present in organs and tissues that contain stem and progenitor cells, myeloid and/or lymphoid: placenta, spleen, lymph nodes, thymus, bone marrow and fetal liver. Within the hematopoietic system, it is abundant in CD34(+) cells but undetectable in mature peripheral blood leukocytes, and its levels rapidly decrease during the differentiation of CD34(+) cells in response to hemopoietins.
DOMAIN: Uses different DNA- and protein-binding zinc fingers to regulate the distinct BMP-Smad and hematopoietic system (By similarity).
DISEASE: Note=A chromosomal aberration involving ZNF521 is found in acute lymphoblastic leukemia. Translocation t(9;18)(p13;q11.2) with PAX5. The translocation generates the PAX5-ZNF521 oncogene consisting of the N-terminus part of PAX5 and the C-terminus part of ZNF521.
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 30 C2H2-type zinc fingers.
SEQUENCE CAUTION: Sequence=ABI33104.1; Type=Erroneous initiation; Sequence=BAB13829.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 41.83 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 233.25 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -65.90198-0.333 Picture PostScript Text
3' UTR -17.00119-0.143 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00096 - Zinc finger, C2H2 type

ModBase Predicted Comparative 3D Structure on Q96K83
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0019904 protein domain specific binding
GO:0046872 metal ion binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0030154 cell differentiation
GO:0048663 neuron fate commitment

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AF141339 - Homo sapiens LYST-interacting protein LIP3 mRNA, partial cds.
AK074046 - Homo sapiens mRNA for FLJ00107 protein.
AK027354 - Homo sapiens cDNA FLJ14448 fis, clone HEMBB1001482, weakly similar to ZINC FINGER PROTEIN 91.
AJ518106 - Homo sapiens mRNA for early hematopoietic zinc finger (EHZF gene).
AK021452 - Homo sapiens cDNA FLJ11390 fis, clone HEMBA1000561, weakly similar to ZINC FINGER PROTEIN 91.
AL117615 - Homo sapiens mRNA; cDNA DKFZp564D0764 (from clone DKFZp564D0764); partial cds.
BC032869 - Homo sapiens zinc finger protein 521, mRNA (cDNA clone IMAGE:5262637), partial cds.
BC113622 - Homo sapiens zinc finger protein 521, mRNA (cDNA clone MGC:142182 IMAGE:8322674), complete cds.
BC113648 - Homo sapiens zinc finger protein 521, mRNA (cDNA clone MGC:142208 IMAGE:8322700), complete cds.
BC143727 - Homo sapiens cDNA clone IMAGE:9052241.
DQ845345 - Homo sapiens PAX5/ZNF521 fusion protein (PAX5/ZNF521 fusion) mRNA, complete cds.
AK293067 - Homo sapiens cDNA FLJ77901 complete cds, highly similar to Homo sapiens zinc finger protein 521 (ZNF521), mRNA.
AB385259 - Synthetic construct DNA, clone: pF1KF0107, Homo sapiens ZNF521 gene for zinc finger protein 521, complete cds, without stop codon, in Flexi system.
JD287584 - Sequence 268608 from Patent EP1572962.
DQ578349 - Homo sapiens piRNA piR-46461, complete sequence.
JD336433 - Sequence 317457 from Patent EP1572962.
JD419749 - Sequence 400773 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96K83 (Reactome details) participates in the following event(s):

R-HSA-9008137 RUNX2 binds ZNF521 and HDAC3
R-HSA-8940973 RUNX2 regulates osteoblast differentiation
R-HSA-8941326 RUNX2 regulates bone development
R-HSA-8878166 Transcriptional regulation by RUNX2
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: A3QVP7, AK293067, B0YJB7, EHZF, ENST00000538137.1, ENST00000538137.2, ENST00000538137.3, ENST00000538137.4, ENST00000538137.5, LIP3, Q8IXI0, Q8TES6, Q96K83, Q9C065, Q9HAL5, Q9UFK4, uc010dly.1, uc010dly.2, uc010dly.3, ZN521_HUMAN
UCSC ID: ENST00000538137.6
RefSeq Accession: NM_015461
Protein: Q96K83 (aka ZN521_HUMAN)
CCDS: CCDS32806.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.