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ZNF384 (Zinc Finger protein 384)

Identity

Other namesCAGH1
CAGH1A
CIZ
ERDA2
NMP4
NP
TNRC1
HGNC (Hugo) ZNF384
Location 12p13.31
Location_base_pair Starts at 6645904 and ends at 6668086 bp from pter ( according to hg18-Mar_2006)  [Mapping]
Local_order centromere 5'-ZNF384- 3' telomere

DNA/RNA

Note GeneLoc location for GC12M006646: Start: 6,645,904 bp from pter; End: 6,668,930 bp from pter; Size: 23,026 bases (23Kb); Orientation: minus strand
 
  The diagram shows all genes (including ZNF384), with their orientation from centromere to telomere, which are localized in a region going from 6,590 Kbp to 6,720 Kbp at 12p13.
Transcription Transcript Variant: different alternative splicing isoforms are described.

Protein

Note Similarity: belongs to the Kruppel C2H2-type zinc-finger protein family; contains 8 C2H2-type zinc fingers.
 
  Schematic representation of CIZ protein. LZ: leucine-rich domain SR: serine rich domain PR: Proline rich domain NLS: Nuclear Localization signal ZFs: Kruppel-type C2H2 zinc finger domains QA: Gln-Ala repeat (See also Martini et al., Cancer Research 2002).
Description Nucleocytoplasmic shuttling protein and transcription factor which appear to bind and regulate the promoter of MMP1, MMP3, MMP7 and COL1A1. Multiple transcript variants encoding several protein isoforms have been found.
Localisation Nucleus

Implicated in

Entity Acute lymphoblastic leukemia with t(12;17)(p13;q11) --> TAF15-ZNF384
Disease pro-B Acute lymphoblastic leukemia with expression of myeloid antigens ( ANPEP/CD13 and/or CD33, and less frequently FUT4/CD15); acute myeloid leukemia.
Prognosis Relatively good prognosis.
 
A) schematic representation of the reciprocal t(12;17)(p13;q11) translocation; B) Break-a-part FISH: RP11-369N23 maps telomeric to the 3' ZNF384 while RP11-101F21 partially overlaps with the 5' end of ZNF384 (RP11 clones belong to the Peter De Jong library and were kindly provided by M Rocchi).
Abnormal Protein TAF15-ZNF384
 
Schematic representation of the TAF15-ZNF384 fusion protein. SYQG, Ser-Tyr-Gln-Gly transactivating domain; RGG, Arg-Gly-Gly rich region, (RNA binding domain); LZ, leucine-rich domain; SR, serine rich domain; PR, Proline rich domain; NLS, Nuclear Localization signal; ZFs, Kruppel-type C2H2 zinc finger domains QA: Gln-Ala repeat (see also Martini et al., Cancer Res 2002).
  
Entity Acute lymphoblastic leukemia with t(12;19)(p13;p13) --> E2A-ZNF384
Disease pro-B Acute Lymphoblastic Leukemia with expression of myeloid antigens.
Prognosis Relatively good prognosis.
Cytogenetics The t(12;19)(p13;p13) is cryptic
 
A) schematic representation of the reciprocal t(12;19)(p13;p13) translocation; B) Break-a-part FISH: RP11-369N23 maps telomeric to the 3'ZNF384 while RP11-101F21 partially overlaps with the 5' end of ZNF384 (RP11 clones belong to the Peter De Jong library and were kindly provided by M Rocchi).
Abnormal Protein ZNF384-E2A
  
Entity Acute lymphoblastic leukemia with t(12;22)(p13;q12) --> EWSR1-ZNF384
Disease pro-B Acute Lymphoblastic Leukemia with expression of myeloid antigens; biphenotypic leukemia.
Prognosis Relatively good prognosis.
 
Schematic representation of the reciprocal t(12;22)(p13;q12) translocation producing the EWSR1-ZNF384 fusion gene.
Abnormal Protein EWSR1-ZNF384
 
Schematic representation of the EWSR1-ZNF384 fusion protein. SYQG, Ser-Tyr-Gln-Gly transactivating domain; LZ, leucine-rich domain; SR, serine rich domain; PR, Proline rich domain; NLS, Nuclear Localization signal; ZFs, Kruppel-type C2H2 zinc finger domains; QA, Gln-Ala repeat (see also Martini et al., Cancer Res 2002).
  

Breakpoints

 

External links

Nomenclature
HGNC (Hugo)ZNF384   11955
Entrez_Gene (NCBI)ZNF384  171017  zinc finger protein 384
Cards
AtlasZNF384ID42881ch12p13
GeneCards (Weizmann)ZNF384
Ensembl (Hinxton)ENSG00000126746 [Gene_View]  ZNF384 [Vega]
AceView (NCBI)ZNF384
Genatlas (Paris)ZNF384
euGene (Indiana)171017
SOURCE (Stanford)NM_001039916 NM_001039917 NM_001039918 NM_001039919 NM_001039920 NM_001135734 NM_133476
Gene Expression (Array Express) ENSG00000126746
Genomic and cartography
GoldenPath (UCSC)ZNF384  -  12p13.31   chr12:6645904-6668086 -  12p12   [Description]    (hg18-Mar_2006)
EnsemblZNF384 - 12p12 [CytoView]
Mapping of homologs : NCBIZNF384 [Mapview]
OMIM609951   
Gene and transcription
Gene : Genbank (Entrez)AK095734 AK298784 AK298962 AL047622 AL047623
Reference sequence (RefSeq transcript) :SRSNM_001039916 NM_001039917 NM_001039918 NM_001039919 NM_001039920 NM_001135734 NM_133476
Reference transcript : EntrezNM_001039916 NM_001039917 NM_001039918 NM_001039919 NM_001039920 NM_001135734 NM_133476
RefSeq genomic : SRSAC_000055 AC_000144 NC_000012 NT_009759 NW_001838050 NW_925295
RefSeq genomic : EntrezAC_000055 AC_000144 NC_000012 NT_009759 NW_001838050 NW_925295
Consensus coding sequences : CCDS NCBIZNF384
Cluster EST : UnigeneHs.714839 [ SRS ] Hs.714839 [ NCBI ]
Alternative Splicing : Fast-db (Paris)1262
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ8TF68 (SRS) Q8TF68 (Expasy) Q8TF68 (Uniprot)
With graphics : InterProQ8TF68
Splice isoforms : VarSplice FASTAQ8TF68(VarSplice FASTA)
Domaine pattern : Prosite (SRS)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domain pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (SRS)Znf_C2H2    Znf_C2H2-like    Znf_C2H2/integrase_DNA-bd   
Domains : Interpro (EBI)Znf_C2H2    Znf_C2H2-like    Znf_C2H2/integrase_DNA-bd   
Related proteins : CluSTrQ8TF68
Domain families : Pfam SRSzf-C2H2 (PF00096)   
Domain families : Pfam Sangerzf-C2H2 (PF00096)   
Domain families : Pfam NCBIpfam00096   
Domain families : Smart EMBLZnF_C2H2 (SM00355)  
Blocks (Seattle)Q8TF68
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD18332
Protein Interaction databases
DIP (DOE-UCLA)Q8TF68
IntAct (EBI)Q8TF68
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIZNF384
SNP : GeneSNP UtahZNF384
SNP : HGBaseZNF384
Genetic variants : HAPMAPZNF384
Cancer Gene: CensusZNF384 
Somatic Mutations in Cancer : COSMICZNF384 
Rearrangement : COSMICEWSR1 22q12.2  -  ZNF384 12p13.31
Translocation Breakpoints in Cancer : TICdbZNF384 
Mutations and Diseases : HGMDZNF384
Hereditary diseases : OMIM609951   
Hereditary diseases : GENETests609951   
Diseases : Genetic AssociationZNF384
General knowledge
Homologs : HomoloGeneZNF384
Homology/Alignments : Family Browser UCSCZNF384
Phylogenetic Trees/Animal Genes : TreeFamZNF384
Chemical/Protein Interactions : CTD171017
Keywords Ontology : AmiGODNA binding  intracellular  nucleus  nucleolus  focal adhesion  nucleocytoplasmic transport  zinc ion binding  SH3 domain binding  zinc-mediated transcriptional activator activity  regulation of transcription  metal ion binding  
Keywords Ontology : EGO-EBIDNA binding  intracellular  nucleus  nucleolus  focal adhesion  nucleocytoplasmic transport  zinc ion binding  SH3 domain binding  zinc-mediated transcriptional activator activity  regulation of transcription  metal ion binding  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesZNF384 Related clones (RZPD - Berlin)
Literature
PubMed13 Pubmed reference(s) in Entrez
PubGeneZNF384

Bibliography

Involvement of the nuclear matrix in the control of skeletal genes: the NMP1 (YY1), NMP2 (Cbfa1), and NMP4 (Nmp4/CIZ) transcription factors.
Bidwell JP, Torrungruang K, Alvarez M, Rhodes SJ, Shah R, Jones DR, Charoonpatrapong K, Hock JM, Watt AJ
Critical reviews in eukaryotic gene expression. 2001 ; 11 (4) : 279-297.
PMID 12067068
 
Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemia.
Martini A, La Starza R, Janssen H, Bilhou-Nabera C, Corveleyn A, Somers R, Aventin A, FoˆÝ R, Hagemeijer A, Mecucci C, Marynen P
Cancer research. 2002 ; 62 (19) : 5408-5412.
PMID 12359745
 
Identifying genes that regulate bone remodeling as potential therapeutic targets.
Krane SM
The Journal of experimental medicine. 2005 ; 201 (6) : 841-843.
PMID 15781576
 
CIZ gene rearrangements in acute leukemia: report of a diagnostic FISH assay and clinical features of nine patients.
La Starza R, Aventin A, Crescenzi B, Gorello P, Specchia G, Cuneo A, Angioni A, Bilhou-Nabera C, Boquˆ© C, FoˆÝ R, Uyttebroeck A, Talmant P, Cimino G, Martelli MF, Marynen P, Mecucci C, Hagemeijer A
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2005 ; 19 (9) : 1696-1699.
PMID 15990865
 
Identification in human osteoarthritic chondrocytes of proteins binding to the novel regulatory site AGRE in the human matrix metalloprotease 13 proximal promoter.
Fan Z, Tardif G, Boileau C, Bidwell JP, Geng C, Hum D, Watson A, Pelletier JP, Lavigne M, Martel-Pelletier J
Arthritis and rheumatism. 2006 ; 54 (8) : 2471-2480.
PMID 16868967
 
Interaction partners for human ZNF384/CIZ/NMP4--zyxin as a mediator for p130CAS signaling?
Janssen H, Marynen P
Experimental cell research. 2006 ; 312 (7) : 1194-1204.
PMID 16510139
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written11-2007Paolo Gorello, Roberta La Starza, Cristina Mecucci
Hematology, University of Perugia, via Brunamonti, 06122 Perugia, Italy

Citation

This paper should be referenced as such :
Gorello P, La Starza R, Mecucci C . ZNF384 (Zinc Finger protein 384). Atlas Genet Cytogenet Oncol Haematol. November 2007 .
URL : http://AtlasGeneticsOncology.org/Genes/ZNF384ID42881ch12p13.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 27 10:51:30 CET 2010
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