Q9ULV3 (CIZ1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 111.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Cip1-interacting zinc finger protein Alternative name(s): CDKN1A-interacting zinc finger protein 1 Nuclear protein NP94 Zinc finger protein 356 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 898 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May regulate the subcellular localization of CIP/WAF1. |
| Subunit structure | Interacts with CIP/WAF1. |
| Subcellular location | |
| Involvement in disease | 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. |
| Sequence similarities | Contains 1 matrin-type zinc finger. |
| Sequence caution | The sequence AAF23231.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAF37882.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation Dystonia |
| Domain | Zinc-finger |
| Ligand | Metal-binding Zinc |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | maintenance of nucleus location Inferred from electronic annotation. Source: Compara positive regulation of DNA-dependent DNA replication initiationInferred from electronic annotation. Source: Compara |
| Cellular_component | nucleus Traceable author statement Ref.1. Source: ProtInc |
| Molecular_function | nucleic acid binding Inferred from electronic annotation. Source: InterPro zinc ion bindingTraceable author statement Ref.1. Source: ProtInc |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| SH3BP4 | Q9P0V3 | 2 | EBI-2652948,EBI-1049513 |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9ULV3-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9ULV3-2) Also known as: NP94B; The sequence of this isoform differs from the canonical sequence as follows: 97-120: Missing. 197-201: Missing. | ||||||
| Isoform 3 (identifier: Q9ULV3-3) The sequence of this isoform differs from the canonical sequence as follows: 97-120: Missing. 377-432: Missing. | ||||||
| Isoform 4 (identifier: Q9ULV3-4) The sequence of this isoform differs from the canonical sequence as follows: 377-432: Missing. | ||||||
| Isoform 5 (identifier: Q9ULV3-5) The sequence of this isoform differs from the canonical sequence as follows: 1-101: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 898 | 898 | Cip1-interacting zinc finger protein | PRO_0000089776 | |||||
Regions | |||||||||
| Zinc finger | 799 – 830 | 32 | Matrin-type | ||||||
| Compositional bias | 4 – 44 | 41 | Gln-rich | ||||||
| Compositional bias | 276 – 470 | 195 | Gln-rich | ||||||
| Compositional bias | 741 – 761 | 21 | Glu-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 567 | 1 | Phosphothreonine Ref.10 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 101 | 101 | Missing in isoform 5. | VSP_044729 | |||||
| Alternative sequence | 97 – 120 | 24 | Missing in isoform 2 and isoform 3. | VSP_004164 | |||||
| Alternative sequence | 197 – 201 | 5 | Missing in isoform 2. | VSP_004165 | |||||
| Alternative sequence | 377 – 432 | 56 | Missing in isoform 3 and isoform 4. | VSP_039894 | |||||
| Natural variant | 47 | 1 | P → S Probable disease-associated mutation found in patients with adult onset primary cervical dystonia. Ref.12 | VAR_067971 | |||||
| Natural variant | 50 | 1 | P → L. Ref.12 | VAR_067972 | |||||
| Natural variant | 219 | 1 | A → T. Ref.2 Corresponds to variant rs45588035 [ dbSNP | Ensembl ]. | VAR_056820 | |||||
| Natural variant | 264 | 1 | S → G Probable disease-associated mutation found in a family with adult onset primary cervical dystonia; exonic splicing enhancer mutation resulting in altered CIZ1 splicing pattern. Ref.12 | VAR_067973 | |||||
| Natural variant | 370 | 1 | E → G. Ref.2 Corresponds to variant rs45554035 [ dbSNP | Ensembl ]. | VAR_063105 | |||||
| Natural variant | 394 | 1 | Q → E. Ref.12 | VAR_067974 | |||||
| Natural variant | 577 | 1 | S → F. Ref.12 | VAR_067975 | |||||
| Natural variant | 578 | 1 | S → F. Ref.2 Corresponds to variant rs12334 [ dbSNP | Ensembl ]. | VAR_056821 | |||||
| Natural variant | 638 | 1 | V → M. Ref.2 Ref.3 Corresponds to variant rs11549266 [ dbSNP | Ensembl ]. | VAR_056822 | |||||
| Natural variant | 672 | 1 | R → M Probable disease-associated mutation found in patients with adult onset primary cervical dystonia. Ref.12 | VAR_067976 | |||||
| Natural variant | 847 | 1 | R → Q. Ref.2 Corresponds to variant rs11549260 [ dbSNP | Ensembl ]. | VAR_063106 | |||||
Experimental info | |||||||||
| Sequence conflict | 9 | 1 | Missing in AAF23231. Ref.7 | ||||||
| Sequence conflict | 35 | 1 | L → S in AAF23231. Ref.7 | ||||||
| Sequence conflict | 101 | 1 | A → V in BAB14750. Ref.3 | ||||||
| Sequence conflict | 232 | 1 | P → L in BAA85783. Ref.1 | ||||||
| Sequence conflict | 500 | 1 | G → S in AAF37882. Ref.7 | ||||||
| Sequence conflict | 549 | 1 | K → E in BAG64643. Ref.3 | ||||||
| Sequence conflict | 555 | 1 | S → G in BAA85783. Ref.1 | ||||||
| Sequence conflict | 568 | 1 | P → L in AAF23231. Ref.7 | ||||||
| Sequence conflict | 634 | 1 | S → P in AAF23231. Ref.7 | ||||||
| Sequence conflict | 677 | 1 | K → R in AAF37882. Ref.7 | ||||||
| Sequence conflict | 678 | 1 | I → V in BAB14750. Ref.3 | ||||||
| Sequence conflict | 682 | 1 | S → P in BAB14750. Ref.3 | ||||||
| Sequence conflict | 698 | 1 | R → L in CAB44346. Ref.8 | ||||||
| Sequence conflict | 735 | 1 | D → G in AAF23231. Ref.7 | ||||||
| Sequence conflict | 757 | 1 | E → K in BAB14750. Ref.3 | ||||||
| Sequence conflict | 810 | 1 | S → N in AAF37882. Ref.7 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and characterization of a novel p21(Cip1/Waf1)-interacting zinc finger protein, ciz1." Mitsui K., Matsumoto A., Ohtsuka S., Ohtsubo M., Yoshimura A. Biochem. Biophys. Res. Commun. 264:457-464(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | NIEHS SNPs program Submitted (MAR-2007) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-219; GLY-370; PHE-578; MET-638 AND GLN-847. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 4 AND 5), VARIANT MET-638. Tissue: Testis and Thymus. |
| [4] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Lymph. |
| [7] | "Ciz1, Cip1 interacting zinc finger protein 1 binds the consensus DNA sequence ARYSR(0-2)YYAC." Warder D.E., Keherly M.J. J. Biomed. Sci. 10:406-417(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2-898 (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 50-898 (ISOFORM 2). Tissue: Medulloblastoma. |
| [8] | "Extensive gene order differences within regions of conserved synteny between the Fugu and human genomes: implications for chromosomal evolution and the cloning of disease genes." Gilley J., Fried M. Hum. Mol. Genet. 8:1313-1320(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 649-898. |
| [9] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [10] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-567, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [11] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [12] | "Mutations in CIZ1 cause adult onset primary cervical dystonia." Xiao J., Uitti R.J., Zhao Y., Vemula S.R., Perlmutter J.S., Wszolek Z.K., Maraganore D.M., Auburger G., Leube B., Lehnhoff K., Ledoux M.S. Ann. Neurol. 71:458-469(2012) [PubMed] [Europe PMC] [Abstract] Cited for: POSSIBLE INVOLVEMENT IN ADULT ONSET PRIMARY CERVICAL DYSTONIA, VARIANTS SER-47; LEU-50; GLY-264; GLU-394; PHE-577 AND MET-672. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB030835 mRNA. Translation: BAA85783.1. EF467915 Genomic DNA. Translation: ABO43037.1. AK023978 mRNA. Translation: BAB14750.1. AK292713 mRNA. Translation: BAF85402.1. AK303636 mRNA. Translation: BAG64643.1. AK316393 mRNA. Translation: BAH14764.1. AL590708 Genomic DNA. Translation: CAI13828.1. AL590708 Genomic DNA. Translation: CAI13829.1. AL590708 Genomic DNA. Translation: CAI13831.1. CH471090 Genomic DNA. Translation: EAW87752.1. CH471090 Genomic DNA. Translation: EAW87753.1. CH471090 Genomic DNA. Translation: EAW87754.1. BC021163 mRNA. Translation: AAH21163.1. AF159027 mRNA. Translation: AAF23231.1. Different initiation. AF234161 mRNA. Translation: AAF37882.1. Different initiation. Y17453 Genomic DNA. Translation: CAB44346.1. Y17454 Genomic DNA. Translation: CAB44347.1. |
| IPI | IPI00183425. IPI00220051. IPI00329602. IPI00551026. IPI01013233. |
| RefSeq | NP_001124487.1. NM_001131015.1. NP_001124488.1. NM_001131016.1. NP_001124489.1. NM_001131017.1. NP_001124490.1. NM_001131018.1. NP_001244904.1. NM_001257975.1. NP_001244905.1. NM_001257976.1. NP_036259.2. NM_012127.2. |
| UniGene | Hs.212395. |
3D structure databases | |
| ProteinModelPortal | Q9ULV3. |
| SMR | Q9ULV3. Positions 590-623, 656-706, 799-835. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9ULV3. 7 interactions. |
| STRING | 9606.ENSP00000362029. |
PTM databases | |
| PhosphoSite | Q9ULV3. |
Polymorphism databases | |
| DMDM | 296434448. |
Proteomic databases | |
| PaxDb | Q9ULV3. |
| PRIDE | Q9ULV3. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000325721; ENSP00000320374; ENSG00000148337. ENST00000372938; ENSP00000362029; ENSG00000148337. ENST00000372948; ENSP00000362039; ENSG00000148337. ENST00000372954; ENSP00000362045; ENSG00000148337. ENST00000393608; ENSP00000377232; ENSG00000148337. ENST00000541172; ENSP00000445057; ENSG00000148337. |
| GeneID | 25792. |
| KEGG | hsa:25792. |
| UCSC | uc004bts.3. human. uc004btt.3. human. uc004btu.3. human. uc004btw.3. human. |
Organism-specific databases | |
| CTD | 25792. |
| GeneCards | GC09M130929. |
| HGNC | HGNC:16744. CIZ1. |
| MIM | 611420. gene. |
| neXtProt | NX_Q9ULV3. |
| PharmGKB | PA134883336. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG70338. |
| HOVERGEN | HBG002558. |
| InParanoid | Q9ULV3. |
| OrthoDB | EOG4320ZW. |
| PhylomeDB | Q9ULV3. |
Gene expression databases | |
| ArrayExpress | Q9ULV3. |
| Bgee | Q9ULV3. |
| CleanEx | HS_CIZ1. |
| Genevestigator | Q9ULV3. |
| GermOnline | ENSG00000148337. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR026811. CIZ1. IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR022755. Znf_C2H2_jaz. IPR000690. Znf_C2H2_matrin. IPR003604. Znf_U1. [Graphical view] |
| PANTHER | PTHR15491:SF3. PTHR15491:SF3. 1 hit. |
| Pfam | PF12171. zf-C2H2_jaz. 1 hit. [Graphical view] |
| SMART | SM00355. ZnF_C2H2. 3 hits. SM00451. ZnF_U1. 3 hits. [Graphical view] |
| PROSITE | PS50171. ZF_MATRIN. 1 hit. PS00028. ZINC_FINGER_C2H2_1. 2 hits. Uncertain. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | CIZ1. human. |
| GenomeRNAi | 25792. |
| NextBio | 46965. |
| SOURCE | Search... |
Entry information
| Entry name | CIZ1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9ULV3 Secondary accession number(s): A8K9J8 Q9Y3G0 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
