UniProtKB - Q9ULV3 (CIZ1_HUMAN)
Protein
Cip1-interacting zinc finger protein
Gene
CIZ1
Organism
Homo sapiens (Human)
Status
Functioni
May regulate the subcellular localization of CIP/WAF1.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 799 – 830 | Matrin-typePROSITE-ProRule annotationAdd BLAST | 32 |
GO - Molecular functioni
- nucleic acid binding Source: InterPro
- zinc ion binding Source: ProtInc
Keywordsi
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q9ULV3 |
Names & Taxonomyi
Protein namesi | Recommended name: Cip1-interacting zinc finger proteinAlternative name(s): CDKN1A-interacting zinc finger protein 1 Nuclear protein NP94 Zinc finger protein 356 |
Gene namesi | Name:CIZ1 Synonyms:LSFR1, NP94, ZNF356 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000148337.20 |
HGNCi | HGNC:16744, CIZ1 |
MIMi | 611420, gene |
neXtProti | NX_Q9ULV3 |
Subcellular locationi
Nucleus
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Plasma Membrane
- plasma membrane Source: HPA
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
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.
Keywords - Diseasei
Disease mutation, DystoniaOrganism-specific databases
DisGeNETi | 25792 |
MalaCardsi | CIZ1 |
OpenTargetsi | ENSG00000148337 |
Orphaneti | 420492, Adult-onset cervical dystonia, DYT23 type |
PharmGKBi | PA134883336 |
Miscellaneous databases
Pharosi | Q9ULV3, Tbio |
Polymorphism and mutation databases
BioMutai | CIZ1 |
DMDMi | 296434448 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000089776 | 1 – 898 | Cip1-interacting zinc finger proteinAdd BLAST | 898 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 209 | PhosphoserineCombined sources | 1 | |
Modified residuei | 244 | PhosphothreonineCombined sources | 1 | |
Cross-linki | 280 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 340 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 350 | PhosphoserineCombined sources | 1 | |
Cross-linki | 401 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 547 | PhosphoserineCombined sources | 1 | |
Cross-linki | 549 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 567 | PhosphothreonineCombined sources | 1 | |
Cross-linki | 588 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 680 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 705 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 821 | PhosphoserineCombined sources | 1 | |
Cross-linki | 830 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 838 | PhosphoserineCombined sources | 1 | |
Cross-linki | 879 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q9ULV3 |
jPOSTi | Q9ULV3 |
MassIVEi | Q9ULV3 |
PaxDbi | Q9ULV3 |
PeptideAtlasi | Q9ULV3 |
PRIDEi | Q9ULV3 |
ProteomicsDBi | 7084 85130 [Q9ULV3-1] 85131 [Q9ULV3-2] 85132 [Q9ULV3-3] 85133 [Q9ULV3-4] |
PTM databases
CarbonylDBi | Q9ULV3 |
iPTMneti | Q9ULV3 |
PhosphoSitePlusi | Q9ULV3 |
Expressioni
Gene expression databases
Bgeei | ENSG00000148337, Expressed in testis and 240 other tissues |
ExpressionAtlasi | Q9ULV3, baseline and differential |
Genevisiblei | Q9ULV3, HS |
Organism-specific databases
HPAi | ENSG00000148337, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with CIP/WAF1.
Binary interactionsi
Q9ULV3
With | #Exp. | IntAct |
---|---|---|
SH3BP4 [Q9P0V3] | 2 | EBI-2652948,EBI-1049513 |
Protein-protein interaction databases
BioGRIDi | 117325, 32 interactors |
IntActi | Q9ULV3, 21 interactors |
STRINGi | 9606.ENSP00000439244 |
Miscellaneous databases
RNActi | Q9ULV3, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 4 – 44 | Gln-richAdd BLAST | 41 | |
Compositional biasi | 276 – 470 | Gln-richAdd BLAST | 195 | |
Compositional biasi | 741 – 761 | Glu-richAdd BLAST | 21 |
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 799 – 830 | Matrin-typePROSITE-ProRule annotationAdd BLAST | 32 |
Keywords - Domaini
Zinc-fingerPhylogenomic databases
eggNOGi | ENOG502RYYN, Eukaryota |
GeneTreei | ENSGT00440000039084 |
HOGENOMi | CLU_018344_0_0_1 |
InParanoidi | Q9ULV3 |
OrthoDBi | 524482at2759 |
PhylomeDBi | Q9ULV3 |
TreeFami | TF332388 |
Family and domain databases
InterProi | View protein in InterPro IPR026811, CIZ1 IPR000690, Matrin/U1-C_Znf_C2H2 IPR003604, Matrin/U1-like-C_Znf_C2H2 IPR022755, Znf_C2H2_jaz IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
PANTHERi | PTHR15491, PTHR15491, 2 hits |
Pfami | View protein in Pfam PF12171, zf-C2H2_jaz, 1 hit |
SMARTi | View protein in SMART SM00355, ZnF_C2H2, 3 hits SM00451, ZnF_U1, 3 hits |
SUPFAMi | SSF57667, SSF57667, 2 hits |
PROSITEi | View protein in PROSITE PS50171, ZF_MATRIN, 1 hit PS00028, ZINC_FINGER_C2H2_1, 2 hits |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9ULV3-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP
60 70 80 90 100
LPMAVSRGLP PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF
110 120 130 140 150
AMPPATYDTA GLTMPTATLG NLRGYGMASP GLAAPSLTPP QLATPNLQQF
160 170 180 190 200
FPQATRQSLL GPPPVGVPMN PSQFNLSGRN PQKQARTSSS TTPNRKDSSS
210 220 230 240 250
QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK EKRTPAPEPE
260 270 280 290 300
PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP
310 320 330 340 350
EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS
360 370 380 390 400
PEHLVLQQKQ VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ VQLQQEAEPL
410 420 430 440 450
KQVQPQVQPQ AHSQPPRQVQ LQLQKQVQTQ TYPQVHTQAQ PSVQPQEHPP
460 470 480 490 500
AQVSVQPPEQ THEQPHTQPQ VSLLAPEQTP VVVHVCGLEM PPDAVEAGGG
510 520 530 540 550
MEKTLPEPVG TQVSMEEIQN ESACGLDVGE CENRAREMPG VWGAGGSLKV
560 570 580 590 600
TILQSSDSRA FSTVPLTPVP RPSDSVSSTP AATSTPSKQA LQFFCYICKA
610 620 630 640 650
SCSSQQEFQD HMSEPQHQQR LGEIQHMSQA CLLSLLPVPR DVLETEDEEP
660 670 680 690 700
PPRRWCNTCQ LYYMGDLIQH RRTQDHKIAK QSLRPFCTVC NRYFKTPRKF
710 720 730 740 750
VEHVKSQGHK DKAKELKSLE KEIAGQDEDH FITVDAVGCF EGDEEEEEDD
760 770 780 790 800
EDEEEIEVEE ELCKQVRSRD ISREEWKGSE TYSPNTAYGV DFLVPVMGYI
810 820 830 840 850
CRICHKFYHS NSGAQLSHCK SLGHFENLQK YKAAKNPSPT TRPVSRRCAI
860 870 880 890
NARNALTALF TSSGRPPSQP NTQDKTPSKV TARPSQPPLP RRSTRLKT
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H2X7 | F5H2X7_HUMAN | Cip1-interacting zinc finger protei... | CIZ1 | 954 | Annotation score: | ||
Q9BTG3 | Q9BTG3_HUMAN | CIZ1 protein | CIZ1 | 837 | Annotation score: | ||
H0Y5D5 | H0Y5D5_HUMAN | Cip1-interacting zinc finger protei... | CIZ1 | 820 | Annotation score: | ||
Q5SYW2 | Q5SYW2_HUMAN | Cip1-interacting zinc finger protei... | CIZ1 | 870 | Annotation score: | ||
A0A494C0L7 | A0A494C0L7_HUMAN | Cip1-interacting zinc finger protei... | CIZ1 | 820 | Annotation score: | ||
F6VD24 | F6VD24_HUMAN | Cip1-interacting zinc finger protei... | CIZ1 | 252 | Annotation score: | ||
A0A0U1RQR2 | A0A0U1RQR2_HUMAN | Cip1-interacting zinc finger protei... | CIZ1 | 310 | Annotation score: | ||
F6WSM2 | F6WSM2_HUMAN | Cip1-interacting zinc finger protei... | CIZ1 | 168 | Annotation score: |
Sequence cautioni
The sequence AAF23231 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAF37882 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 9 | Missing in AAF23231 (PubMed:12824700).Curated | 1 | |
Sequence conflicti | 35 | L → S in AAF23231 (PubMed:12824700).Curated | 1 | |
Sequence conflicti | 101 | A → V in BAB14750 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 232 | P → L in BAA85783 (PubMed:10529385).Curated | 1 | |
Sequence conflicti | 500 | G → S in AAF37882 (PubMed:12824700).Curated | 1 | |
Sequence conflicti | 549 | K → E in BAG64643 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 555 | S → G in BAA85783 (PubMed:10529385).Curated | 1 | |
Sequence conflicti | 568 | P → L in AAF23231 (PubMed:12824700).Curated | 1 | |
Sequence conflicti | 634 | S → P in AAF23231 (PubMed:12824700).Curated | 1 | |
Sequence conflicti | 677 | K → R in AAF37882 (PubMed:12824700).Curated | 1 | |
Sequence conflicti | 678 | I → V in BAB14750 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 682 | S → P in BAB14750 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 698 | R → L in CAB44346 (PubMed:10369878).Curated | 1 | |
Sequence conflicti | 735 | D → G in AAF23231 (PubMed:12824700).Curated | 1 | |
Sequence conflicti | 757 | E → K in BAB14750 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 810 | S → N in AAF37882 (PubMed:12824700).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067971 | 47 | P → S Probable disease-associated variant found in patients with adult onset primary cervical dystonia. 1 Publication | 1 | |
Natural variantiVAR_067972 | 50 | P → L1 PublicationCorresponds to variant dbSNP:rs747696276Ensembl. | 1 | |
Natural variantiVAR_056820 | 219 | A → T1 PublicationCorresponds to variant dbSNP:rs45588035EnsemblClinVar. | 1 | |
Natural variantiVAR_067973 | 264 | S → G Probable disease-associated variant found in a family with adult onset primary cervical dystonia; exonic splicing enhancer mutation resulting in altered CIZ1 splicing pattern. 1 PublicationCorresponds to variant dbSNP:rs397514566EnsemblClinVar. | 1 | |
Natural variantiVAR_063105 | 370 | E → G1 PublicationCorresponds to variant dbSNP:rs45554035EnsemblClinVar. | 1 | |
Natural variantiVAR_067974 | 394 | Q → E1 PublicationCorresponds to variant dbSNP:rs200010931Ensembl. | 1 | |
Natural variantiVAR_067975 | 577 | S → F1 PublicationCorresponds to variant dbSNP:rs780188256EnsemblClinVar. | 1 | |
Natural variantiVAR_056821 | 578 | S → F1 PublicationCorresponds to variant dbSNP:rs12334EnsemblClinVar. | 1 | |
Natural variantiVAR_056822 | 638 | V → M2 PublicationsCorresponds to variant dbSNP:rs11549266Ensembl. | 1 | |
Natural variantiVAR_067976 | 672 | R → M Probable disease-associated variant found in patients with adult onset primary cervical dystonia. 1 Publication | 1 | |
Natural variantiVAR_063106 | 847 | R → Q1 PublicationCorresponds to variant dbSNP:rs11549260EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_044729 | 1 – 101 | Missing in isoform 5. 1 PublicationAdd BLAST | 101 | |
Alternative sequenceiVSP_004164 | 97 – 120 | Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST | 24 | |
Alternative sequenceiVSP_004165 | 197 – 201 | Missing in isoform 2. 1 Publication | 5 | |
Alternative sequenceiVSP_039894 | 377 – 432 | Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST | 56 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000372938; ENSP00000362029; ENSG00000148337 [Q9ULV3-1] ENST00000372948; ENSP00000362039; ENSG00000148337 [Q9ULV3-4] ENST00000372954; ENSP00000362045; ENSG00000148337 [Q9ULV3-3] ENST00000629610; ENSP00000486816; ENSG00000148337 [Q9ULV3-5] ENST00000634901; ENSP00000489425; ENSG00000148337 [Q9ULV3-1] |
GeneIDi | 25792 |
KEGGi | hsa:25792 |
UCSCi | uc004btt.4, human [Q9ULV3-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
Sequence databases
3D structure databases
SMRi | Q9ULV3 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 117325, 32 interactors |
IntActi | Q9ULV3, 21 interactors |
STRINGi | 9606.ENSP00000439244 |
PTM databases
CarbonylDBi | Q9ULV3 |
iPTMneti | Q9ULV3 |
PhosphoSitePlusi | Q9ULV3 |
Polymorphism and mutation databases
BioMutai | CIZ1 |
DMDMi | 296434448 |
Proteomic databases
EPDi | Q9ULV3 |
jPOSTi | Q9ULV3 |
MassIVEi | Q9ULV3 |
PaxDbi | Q9ULV3 |
PeptideAtlasi | Q9ULV3 |
PRIDEi | Q9ULV3 |
ProteomicsDBi | 7084 85130 [Q9ULV3-1] 85131 [Q9ULV3-2] 85132 [Q9ULV3-3] 85133 [Q9ULV3-4] |
Protocols and materials databases
Antibodypediai | 17368, 97 antibodies |
Genome annotation databases
Ensembli | ENST00000372938; ENSP00000362029; ENSG00000148337 [Q9ULV3-1] ENST00000372948; ENSP00000362039; ENSG00000148337 [Q9ULV3-4] ENST00000372954; ENSP00000362045; ENSG00000148337 [Q9ULV3-3] ENST00000629610; ENSP00000486816; ENSG00000148337 [Q9ULV3-5] ENST00000634901; ENSP00000489425; ENSG00000148337 [Q9ULV3-1] |
GeneIDi | 25792 |
KEGGi | hsa:25792 |
UCSCi | uc004btt.4, human [Q9ULV3-1] |
Organism-specific databases
CTDi | 25792 |
DisGeNETi | 25792 |
EuPathDBi | HostDB:ENSG00000148337.20 |
GeneCardsi | CIZ1 |
HGNCi | HGNC:16744, CIZ1 |
HPAi | ENSG00000148337, Low tissue specificity |
MalaCardsi | CIZ1 |
MIMi | 611420, gene |
neXtProti | NX_Q9ULV3 |
OpenTargetsi | ENSG00000148337 |
Orphaneti | 420492, Adult-onset cervical dystonia, DYT23 type |
PharmGKBi | PA134883336 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502RYYN, Eukaryota |
GeneTreei | ENSGT00440000039084 |
HOGENOMi | CLU_018344_0_0_1 |
InParanoidi | Q9ULV3 |
OrthoDBi | 524482at2759 |
PhylomeDBi | Q9ULV3 |
TreeFami | TF332388 |
Enzyme and pathway databases
PathwayCommonsi | Q9ULV3 |
Miscellaneous databases
BioGRID-ORCSi | 25792, 12 hits in 847 CRISPR screens |
ChiTaRSi | CIZ1, human |
GeneWikii | CIZ1 |
GenomeRNAii | 25792 |
Pharosi | Q9ULV3, Tbio |
PROi | PR:Q9ULV3 |
RNActi | Q9ULV3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000148337, Expressed in testis and 240 other tissues |
ExpressionAtlasi | Q9ULV3, baseline and differential |
Genevisiblei | Q9ULV3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR026811, CIZ1 IPR000690, Matrin/U1-C_Znf_C2H2 IPR003604, Matrin/U1-like-C_Znf_C2H2 IPR022755, Znf_C2H2_jaz IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
PANTHERi | PTHR15491, PTHR15491, 2 hits |
Pfami | View protein in Pfam PF12171, zf-C2H2_jaz, 1 hit |
SMARTi | View protein in SMART SM00355, ZnF_C2H2, 3 hits SM00451, ZnF_U1, 3 hits |
SUPFAMi | SSF57667, SSF57667, 2 hits |
PROSITEi | View protein in PROSITE PS50171, ZF_MATRIN, 1 hit PS00028, ZINC_FINGER_C2H2_1, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CIZ1_HUMAN | |
Accessioni | Q9ULV3Primary (citable) accession number: Q9ULV3 Secondary accession number(s): A8K9J8 Q9Y3G0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 24, 2001 |
Last sequence update: | May 18, 2010 | |
Last modified: | December 2, 2020 | |
This is version 173 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - 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 - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations