ZNF384 (Zinc Finger protein 384)

Identity

Other names	CAGH1
	CAGH1A
	CIZ
	ERDA2
	NMP4
	NP
	TNRC1
Hugo	ZNF384
Location	12p13.31
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

	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).

Note	Similarity: belongs to the Kruppel C2H2-type zinc-finger protein family; contains 8 C2H2-type zinc fingers.
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
Hugo	ZNF384
GDB	ZNF384
Entrez_Gene	ZNF384  171017  zinc finger protein 384
	Cards
Atlas	ZNF384ID42881ch12p13
GeneCards	ZNF384
Ensembl	ZNF384 [Search_View]   ENSG00000126746 [Gene_View]
Genatlas	ZNF384
GeneLynx	ZNF384
eGenome	ZNF384
euGene	171017
	Genomic and cartography
GoldenPath	ZNF384  -  12p13.31   chr12:6645905-6668930 -  12p12   [Description]    (hg18-Mar_2006)
Ensembl	ZNF384 - 12p12 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	ZNF384
	Gene and transcription
Genbank	AK095734 [ ENTREZ ]
Genbank	AL047622 [ ENTREZ ]
Genbank	BC053361 [ ENTREZ ]
Genbank	BP312309 [ ENTREZ ]
Genbank	BP363856 [ ENTREZ ]
RefSeq	NM_001039916 [ SRS ]    NM_001039916 [ ENTREZ ]
RefSeq	NM_001039917 [ SRS ]    NM_001039917 [ ENTREZ ]
RefSeq	NM_001039918 [ SRS ]    NM_001039918 [ ENTREZ ]
RefSeq	NM_001039919 [ SRS ]    NM_001039919 [ ENTREZ ]
RefSeq	NM_001039920 [ SRS ]    NM_001039920 [ ENTREZ ]
RefSeq	NM_133476 [ SRS ]    NM_133476 [ ENTREZ ]
RefSeq	AC_000055 [ SRS ]    AC_000055 [ ENTREZ ]
RefSeq	NC_000012 [ SRS ]    NC_000012 [ ENTREZ ]
RefSeq	NT_009759 [ SRS ]    NT_009759 [ ENTREZ ]
RefSeq	NW_925295 [ SRS ]    NW_925295 [ ENTREZ ]
AceView	ZNF384 AceView - NCBI
Unigene	Hs.103315 [ SRS ]    Hs.103315 [ NCBI ]     HS103315 [ spliceNest ]
Fast-db	1262 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q8TF68 [ SRS]    Q8TF68 [ EXPASY ]     Q8TF68 [ INTERPRO ]
Prosite	PS00028 ZINC_FINGER_C2H2_1 [ SRS ]    PS00028 ZINC_FINGER_C2H2_1 [ Expasy ]
Prosite	PS50157 ZINC_FINGER_C2H2_2 [ SRS ]    PS50157 ZINC_FINGER_C2H2_2 [ Expasy ]
Interpro	IPR007087 Znf_C2H2 [ SRS ]    IPR007087 Znf_C2H2 [ EBI ]
Interpro	IPR015880 Znf_C2H2-like [ SRS ]    IPR015880 Znf_C2H2-like [ EBI ]
Interpro	IPR013087 Znf_C2H2/integrase_DNA-bd [ SRS ]    IPR013087 Znf_C2H2/integrase_DNA-bd [ EBI ]
CluSTr	Q8TF68
Pfam	PF00096 zf-C2H2 [ SRS ]    PF00096 zf-C2H2 [ Sanger ]    pfam00096 [ NCBI-CDD ]
Smart	SM00355 ZnF_C2H2 [EMBL]
Prodom	PD000003 Znf_C2H2[INRA-Toulouse]
Prodom	Q8TF68 ZN384_HUMAN [ Domain structure ]   Q8TF68 ZN384_HUMAN  [ sequences sharing at least 1 domain ]
Blocks	Q8TF68
HPRD	18332
	Protein Interaction databases
DIP	Q8TF68
IntAct	Q8TF68
	Polymorphism : SNP, mutations, diseases
OMIM	609951    [ map ]
GENECLINICS	609951
SNP	ZNF384 [dbSNP-NCBI]
SNP	NM_001039916 [SNP-NCI]
SNP	NM_001039917 [SNP-NCI]
SNP	NM_001039918 [SNP-NCI]
SNP	NM_001039919 [SNP-NCI]
SNP	NM_001039920 [SNP-NCI]
SNP	NM_133476 [SNP-NCI]
SNP	ZNF384 [GeneSNPs - Utah]  ZNF384] [HGBASE - SRS]
HAPMAP	ZNF384 [HAPMAP]
COSMIC	ZNF384 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	ZNF384
	General knowledge
Family Browser	ZNF384 [UCSC Family Browser]
SOURCE	NM_001039916
SOURCE	NM_001039917
SOURCE	NM_001039918
SOURCE	NM_001039919
SOURCE	NM_001039920
SOURCE	NM_133476
SMD	Hs.103315
SAGE	Hs.103315
GO	nucleic acid binding [Amigo]  nucleic acid binding
GO	DNA binding [Amigo]  DNA binding
GO	intracellular [Amigo]  intracellular
GO	nucleus [Amigo]  nucleus
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	nervous system development [Amigo]  nervous system development
GO	zinc ion binding [Amigo]  zinc ion binding
GO	metal ion binding [Amigo]  metal ion binding
PubGene	ZNF384
TreeFam	ZNF384
CTD	171017 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	ZNF384 Related clones (RZPD - Berlin)
	PubMed
PubMed	10 Pubmed reference(s) in LocusLink

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	11-2007	Paolo 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 : Wed Jul 2 08:28:13 2008