Human Gene CIZ1 (uc011mar.2) Description and Page Index
  Description: Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 7, mRNA.
RefSeq Summary (NM_001257976): The protein encoded by this gene is a zinc finger DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012].
Transcript (Including UTRs)
   Position: hg19 chr9:130,928,344-130,953,868 Size: 25,525 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg19 chr9:130,928,476-130,950,196 Size: 21,721 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:130,928,344-130,953,868)mRNA (may differ from genome)Protein (797 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMGIneXtProtOMIM
PubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: CIZ1_HUMAN
DESCRIPTION: RecName: Full=Cip1-interacting zinc finger protein; AltName: Full=CDKN1A-interacting zinc finger protein 1; AltName: Full=Nuclear protein NP94; AltName: Full=Zinc finger protein 356;
FUNCTION: May regulate the subcellular localization of CIP/WAF1.
SUBUNIT: Interacts with CIP/WAF1.
INTERACTION: Q9P0V3:SH3BP4; NbExp=2; IntAct=EBI-2652948, EBI-1049513;
SUBCELLULAR LOCATION: Nucleus.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE: Note=Defects in CIZ1 may be a cause of adult onset primary cervical dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Cervical dystonia or spasmodic torticollis, the most common form of focal dystonia, is characterized by involuntary contractions of the neck muscles, which produce abnormal posturing of the head upon the trunk.
SIMILARITY: Contains 1 matrin-type zinc finger.
SEQUENCE CAUTION: Sequence=AAF23231.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAF37882.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ciz1/";

-  MalaCards Disease Associations
  MalaCards Gene Search: CIZ1
Diseases sorted by gene-association score: cervical dystonia (35), focal dystonia (10), segmental dystonia (6), dystonia (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 40.60 RPKM in Testis
Total median expression: 1267.30 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 -161.72350-0.462 Picture PostScript Text
3' UTR -33.30132-0.252 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
IPR026811 - CIZ1
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR022755 - Znf_C2H2_jaz
IPR000690 - Znf_C2H2_matrin
IPR003604 - Znf_U1

Pfam Domains:
PF12171 - Zinc-finger double-stranded RNA-binding
PF12874 - Zinc-finger of C2H2 type

ModBase Predicted Comparative 3D Structure on Q9ULV3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0046872 metal ion binding

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  BC021163 - Homo sapiens CDKN1A interacting zinc finger protein 1, mRNA (cDNA clone MGC:16162 IMAGE:3633796), complete cds.
AK303288 - Homo sapiens cDNA FLJ60074 complete cds, highly similar to Cip1-interacting zinc finger protein.
AK303636 - Homo sapiens cDNA FLJ59651 complete cds, highly similar to Cip1-interacting zinc finger protein.
AK296363 - Homo sapiens cDNA FLJ56007 complete cds, highly similar to Cip1-interacting zinc finger protein.
AF159025 - Homo sapiens nuclear protein NP94 mRNA, complete cds.
BC004119 - Homo sapiens CDKN1A interacting zinc finger protein 1, mRNA (cDNA clone MGC:1118 IMAGE:3507940), complete cds.
AK027287 - Homo sapiens cDNA FLJ14381 fis, clone HEMBA1001824, highly similar to Homo sapiens nuclear protein NP94 mRNA.
AK292713 - Homo sapiens cDNA FLJ78484 complete cds, highly similar to Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), mRNA.
AK316393 - Homo sapiens cDNA, FLJ79292 complete cds, highly similar to Cip1-interacting zinc finger protein.
AK023978 - Homo sapiens cDNA FLJ13916 fis, clone Y79AA1000342, moderately similar to Homo sapiens Ciz1 mRNA.
AB030835 - Homo sapiens Ciz1 mRNA, complete cds.
AF234161 - Homo sapiens nuclear protein NP94b (NP94) mRNA, complete cds, alternatively spliced.
EF441870 - Homo sapiens clone N5 Ciz1 mRNA, partial cds.
HW389168 - JP 2013539534-A/6: CANCER DIAGNOSIS AND TREATMENT.
HW389169 - JP 2013539534-A/7: CANCER DIAGNOSIS AND TREATMENT.
HW389167 - JP 2013539534-A/5: CANCER DIAGNOSIS AND TREATMENT.
AK124335 - Homo sapiens cDNA FLJ42344 fis, clone UTERU2002410.
JD261063 - Sequence 242087 from Patent EP1572962.
HW389172 - JP 2013539534-A/10: CANCER DIAGNOSIS AND TREATMENT.
HW389171 - JP 2013539534-A/9: CANCER DIAGNOSIS AND TREATMENT.
HW389170 - JP 2013539534-A/8: CANCER DIAGNOSIS AND TREATMENT.
HW389165 - JP 2013539534-A/3: CANCER DIAGNOSIS AND TREATMENT.
HW389166 - JP 2013539534-A/4: CANCER DIAGNOSIS AND TREATMENT.
HW389183 - JP 2013539534-A/21: CANCER DIAGNOSIS AND TREATMENT.
HW389163 - JP 2013539534-A/1: CANCER DIAGNOSIS AND TREATMENT.
HW389164 - JP 2013539534-A/2: CANCER DIAGNOSIS AND TREATMENT.
JD019247 - Sequence 271 from Patent EP1572962.
JD022728 - Sequence 3752 from Patent EP1572962.
JD423556 - Sequence 404580 from Patent EP1572962.
JD371452 - Sequence 352476 from Patent EP1572962.
JD024178 - Sequence 5202 from Patent EP1572962.
JD028306 - Sequence 9330 from Patent EP1572962.
JD370377 - Sequence 351401 from Patent EP1572962.
JD370536 - Sequence 351560 from Patent EP1572962.
JD464080 - Sequence 445104 from Patent EP1572962.
JD370757 - Sequence 351781 from Patent EP1572962.
JD370537 - Sequence 351561 from Patent EP1572962.
JD149137 - Sequence 130161 from Patent EP1572962.
JD370535 - Sequence 351559 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K9J8, CIZ1_HUMAN, LSFR1, NM_001257976, NP94, NP_001244905, Q5SYW3, Q5SYW5, Q8WU72, Q9H868, Q9NYM8, Q9UHK4, Q9ULV3, Q9Y3F9, Q9Y3G0, ZNF356
UCSC ID: uc011mar.2
RefSeq Accession: NM_001257976
Protein: Q9ULV3 (aka CIZ1_HUMAN)
CCDS: CCDS59147.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001257976.1
exon count: 16CDS single in 3' UTR: no RNA size: 2900
ORF size: 2394CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4786.00frame shift in genome: no % Coverage: 99.17
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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