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Protein

Cip1-interacting zinc finger protein

Gene

CIZ1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May regulate the subcellular localization of CIP/WAF1.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri799 – 830Matrin-typePROSITE-ProRule annotationAdd BLAST32

GO - Molecular functioni

  • nucleic acid binding Source: InterPro
  • zinc ion binding Source: ProtInc
Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000148337-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Cip1-interacting zinc finger protein
Alternative name(s):
CDKN1A-interacting zinc finger protein 1
Nuclear protein NP94
Zinc finger protein 356
Gene namesi
Name:CIZ1
Synonyms:LSFR1, NP94, ZNF356
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:16744. CIZ1.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & 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, Dystonia

Organism-specific databases

DisGeNETi25792.
OpenTargetsiENSG00000148337.
PharmGKBiPA134883336.

Polymorphism and mutation databases

BioMutaiCIZ1.
DMDMi296434448.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000897761 – 898Cip1-interacting zinc finger proteinAdd BLAST898

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei209PhosphoserineCombined sources1
Modified residuei244PhosphothreonineCombined sources1
Modified residuei350PhosphoserineCombined sources1
Modified residuei547PhosphoserineCombined sources1
Modified residuei567PhosphothreonineCombined sources1
Cross-linki705Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei821PhosphoserineCombined sources1
Modified residuei838PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9ULV3.
PaxDbiQ9ULV3.
PeptideAtlasiQ9ULV3.
PRIDEiQ9ULV3.

PTM databases

iPTMnetiQ9ULV3.
PhosphoSitePlusiQ9ULV3.

Expressioni

Gene expression databases

BgeeiENSG00000148337.
CleanExiHS_CIZ1.
ExpressionAtlasiQ9ULV3. baseline and differential.
GenevisibleiQ9ULV3. HS.

Organism-specific databases

HPAiHPA020380.
HPA020384.
HPA020387.

Interactioni

Subunit structurei

Interacts with CIP/WAF1.

Binary interactionsi

WithEntry#Exp.IntActNotes
SH3BP4Q9P0V32EBI-2652948,EBI-1049513

Protein-protein interaction databases

BioGridi117325. 22 interactors.
IntActiQ9ULV3. 11 interactors.
STRINGi9606.ENSP00000362029.

Structurei

3D structure databases

ProteinModelPortaliQ9ULV3.
SMRiQ9ULV3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi4 – 44Gln-richAdd BLAST41
Compositional biasi276 – 470Gln-richAdd BLAST195
Compositional biasi741 – 761Glu-richAdd BLAST21

Sequence similaritiesi

Contains 1 matrin-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri799 – 830Matrin-typePROSITE-ProRule annotationAdd BLAST32

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiENOG410II97. Eukaryota.
ENOG4111HAM. LUCA.
GeneTreeiENSGT00440000039084.
HOVERGENiHBG002558.
InParanoidiQ9ULV3.
PhylomeDBiQ9ULV3.
TreeFamiTF332388.

Family and domain databases

InterProiIPR026811. CIZ1.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR022755. Znf_C2H2_jaz.
IPR000690. Znf_C2H2_matrin.
IPR003604. Znf_U1.
[Graphical view]
PANTHERiPTHR15491:SF9. PTHR15491:SF9. 2 hits.
PfamiPF12171. zf-C2H2_jaz. 1 hit.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 3 hits.
SM00451. ZnF_U1. 3 hits.
[Graphical view]
PROSITEiPS50171. ZF_MATRIN. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 2 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9ULV3-1) [UniParc]FASTAAdd to basket

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.

« Hide

        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
Length:898
Mass (Da):100,045
Last modified:May 18, 2010 - v2
Checksum:i5E14389E81A146F1
GO
Isoform 2 (identifier: Q9ULV3-2) [UniParc]FASTAAdd to basket
Also known as: NP94B

The sequence of this isoform differs from the canonical sequence as follows:
     97-120: Missing.
     197-201: Missing.

Show »
Length:869
Mass (Da):97,075
Checksum:iACCB3ABBE6A91F03
GO
Isoform 3 (identifier: Q9ULV3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     97-120: Missing.
     377-432: Missing.

Show »
Length:818
Mass (Da):91,153
Checksum:i28DBDF0FB222820E
GO
Isoform 4 (identifier: Q9ULV3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     377-432: Missing.

Show »
Length:842
Mass (Da):93,619
Checksum:iC799C715E082C006
GO
Isoform 5 (identifier: Q9ULV3-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-101: Missing.

Note: No experimental confirmation available.
Show »
Length:797
Mass (Da):88,520
Checksum:i1C3805A4CFAC8864
GO

Sequence cautioni

The sequence AAF23231 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAF37882 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti9Missing in AAF23231 (PubMed:12824700).Curated1
Sequence conflicti35L → S in AAF23231 (PubMed:12824700).Curated1
Sequence conflicti101A → V in BAB14750 (PubMed:14702039).Curated1
Sequence conflicti232P → L in BAA85783 (PubMed:10529385).Curated1
Sequence conflicti500G → S in AAF37882 (PubMed:12824700).Curated1
Sequence conflicti549K → E in BAG64643 (PubMed:14702039).Curated1
Sequence conflicti555S → G in BAA85783 (PubMed:10529385).Curated1
Sequence conflicti568P → L in AAF23231 (PubMed:12824700).Curated1
Sequence conflicti634S → P in AAF23231 (PubMed:12824700).Curated1
Sequence conflicti677K → R in AAF37882 (PubMed:12824700).Curated1
Sequence conflicti678I → V in BAB14750 (PubMed:14702039).Curated1
Sequence conflicti682S → P in BAB14750 (PubMed:14702039).Curated1
Sequence conflicti698R → L in CAB44346 (PubMed:10369878).Curated1
Sequence conflicti735D → G in AAF23231 (PubMed:12824700).Curated1
Sequence conflicti757E → K in BAB14750 (PubMed:14702039).Curated1
Sequence conflicti810S → N in AAF37882 (PubMed:12824700).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06797147P → S Probable disease-associated mutation found in patients with adult onset primary cervical dystonia. 1 Publication1
Natural variantiVAR_06797250P → L.1 PublicationCorresponds to variant rs747696276dbSNPEnsembl.1
Natural variantiVAR_056820219A → T.1 PublicationCorresponds to variant rs45588035dbSNPEnsembl.1
Natural variantiVAR_067973264S → 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. 1 PublicationCorresponds to variant rs397514566dbSNPEnsembl.1
Natural variantiVAR_063105370E → G.1 PublicationCorresponds to variant rs45554035dbSNPEnsembl.1
Natural variantiVAR_067974394Q → E.1 PublicationCorresponds to variant rs200010931dbSNPEnsembl.1
Natural variantiVAR_067975577S → F.1 PublicationCorresponds to variant rs780188256dbSNPEnsembl.1
Natural variantiVAR_056821578S → F.1 PublicationCorresponds to variant rs12334dbSNPEnsembl.1
Natural variantiVAR_056822638V → M.2 PublicationsCorresponds to variant rs11549266dbSNPEnsembl.1
Natural variantiVAR_067976672R → M Probable disease-associated mutation found in patients with adult onset primary cervical dystonia. 1 Publication1
Natural variantiVAR_063106847R → Q.1 PublicationCorresponds to variant rs11549260dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0447291 – 101Missing in isoform 5. 1 PublicationAdd BLAST101
Alternative sequenceiVSP_00416497 – 120Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST24
Alternative sequenceiVSP_004165197 – 201Missing in isoform 2. 1 Publication5
Alternative sequenceiVSP_039894377 – 432Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST56

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS48033.1. [Q9ULV3-3]
CCDS48034.1. [Q9ULV3-4]
CCDS59147.1. [Q9ULV3-5]
CCDS6894.1. [Q9ULV3-1]
RefSeqiNP_001124487.1. NM_001131015.1. [Q9ULV3-4]
NP_001124488.1. NM_001131016.1. [Q9ULV3-1]
NP_001124489.1. NM_001131017.1.
NP_001124490.1. NM_001131018.1. [Q9ULV3-3]
NP_001244904.1. NM_001257975.1.
NP_001244905.1. NM_001257976.1. [Q9ULV3-5]
NP_036259.2. NM_012127.2. [Q9ULV3-1]
XP_005251945.2. XM_005251888.3. [Q9ULV3-1]
XP_005251948.2. XM_005251891.3. [Q9ULV3-4]
XP_005251950.4. XM_005251893.4. [Q9ULV3-3]
XP_006717102.2. XM_006717039.3. [Q9ULV3-2]
XP_016870085.1. XM_017014596.1. [Q9ULV3-4]
UniGeneiHs.212395.

Genome annotation databases

EnsembliENST00000372938; ENSP00000362029; ENSG00000148337. [Q9ULV3-1]
ENST00000372948; ENSP00000362039; ENSG00000148337. [Q9ULV3-4]
ENST00000372954; ENSP00000362045; ENSG00000148337. [Q9ULV3-3]
ENST00000629610; ENSP00000486816; ENSG00000148337. [Q9ULV3-5]
ENST00000634901; ENSP00000489425; ENSG00000148337. [Q9ULV3-1]
GeneIDi25792.
KEGGihsa:25792.
UCSCiuc004btt.4. human. [Q9ULV3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS48033.1. [Q9ULV3-3]
CCDS48034.1. [Q9ULV3-4]
CCDS59147.1. [Q9ULV3-5]
CCDS6894.1. [Q9ULV3-1]
RefSeqiNP_001124487.1. NM_001131015.1. [Q9ULV3-4]
NP_001124488.1. NM_001131016.1. [Q9ULV3-1]
NP_001124489.1. NM_001131017.1.
NP_001124490.1. NM_001131018.1. [Q9ULV3-3]
NP_001244904.1. NM_001257975.1.
NP_001244905.1. NM_001257976.1. [Q9ULV3-5]
NP_036259.2. NM_012127.2. [Q9ULV3-1]
XP_005251945.2. XM_005251888.3. [Q9ULV3-1]
XP_005251948.2. XM_005251891.3. [Q9ULV3-4]
XP_005251950.4. XM_005251893.4. [Q9ULV3-3]
XP_006717102.2. XM_006717039.3. [Q9ULV3-2]
XP_016870085.1. XM_017014596.1. [Q9ULV3-4]
UniGeneiHs.212395.

3D structure databases

ProteinModelPortaliQ9ULV3.
SMRiQ9ULV3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117325. 22 interactors.
IntActiQ9ULV3. 11 interactors.
STRINGi9606.ENSP00000362029.

PTM databases

iPTMnetiQ9ULV3.
PhosphoSitePlusiQ9ULV3.

Polymorphism and mutation databases

BioMutaiCIZ1.
DMDMi296434448.

Proteomic databases

EPDiQ9ULV3.
PaxDbiQ9ULV3.
PeptideAtlasiQ9ULV3.
PRIDEiQ9ULV3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372938; ENSP00000362029; ENSG00000148337. [Q9ULV3-1]
ENST00000372948; ENSP00000362039; ENSG00000148337. [Q9ULV3-4]
ENST00000372954; ENSP00000362045; ENSG00000148337. [Q9ULV3-3]
ENST00000629610; ENSP00000486816; ENSG00000148337. [Q9ULV3-5]
ENST00000634901; ENSP00000489425; ENSG00000148337. [Q9ULV3-1]
GeneIDi25792.
KEGGihsa:25792.
UCSCiuc004btt.4. human. [Q9ULV3-1]

Organism-specific databases

CTDi25792.
DisGeNETi25792.
GeneCardsiCIZ1.
HGNCiHGNC:16744. CIZ1.
HPAiHPA020380.
HPA020384.
HPA020387.
MIMi611420. gene.
neXtProtiNX_Q9ULV3.
OpenTargetsiENSG00000148337.
PharmGKBiPA134883336.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410II97. Eukaryota.
ENOG4111HAM. LUCA.
GeneTreeiENSGT00440000039084.
HOVERGENiHBG002558.
InParanoidiQ9ULV3.
PhylomeDBiQ9ULV3.
TreeFamiTF332388.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000148337-MONOMER.

Miscellaneous databases

ChiTaRSiCIZ1. human.
GeneWikiiCIZ1.
GenomeRNAii25792.
PROiQ9ULV3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148337.
CleanExiHS_CIZ1.
ExpressionAtlasiQ9ULV3. baseline and differential.
GenevisibleiQ9ULV3. HS.

Family and domain databases

InterProiIPR026811. CIZ1.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR022755. Znf_C2H2_jaz.
IPR000690. Znf_C2H2_matrin.
IPR003604. Znf_U1.
[Graphical view]
PANTHERiPTHR15491:SF9. PTHR15491:SF9. 2 hits.
PfamiPF12171. zf-C2H2_jaz. 1 hit.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 3 hits.
SM00451. ZnF_U1. 3 hits.
[Graphical view]
PROSITEiPS50171. ZF_MATRIN. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCIZ1_HUMAN
AccessioniPrimary (citable) accession number: Q9ULV3
Secondary accession number(s): A8K9J8
, B4E131, B7ZAS8, Q5SYW3, Q5SYW5, Q8WU72, Q9H868, Q9NYM8, Q9UHK4, Q9Y3F9, Q9Y3G0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 142 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.