CIZ1 (CDKN1A interacting zinc finger protein 1)

Gene

• Entrez ID: 25792
• Gene name: CDKN1A interacting zinc finger protein 1
• Gene symbol: CIZ1
• Synonyms (NCBI Gene): LSFR1, NP94, ZNF356
• Chromosome: 9
• Chromosome location: 9q34.11
• Summary: 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 ha

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052245	hsa-let-7b-5p	CLASH	23622248
MIRT051724	hsa-let-7d-5p	CLASH	23622248
MIRT050670	hsa-miR-18a-5p	CLASH	23622248
MIRT043659	hsa-miR-326	CLASH	23622248
MIRT043659	hsa-miR-326	CLASH	23622248
MIRT042923	hsa-miR-324-3p	CLASH	23622248
MIRT040834	hsa-miR-18a-3p	CLASH	23622248
MIRT040834	hsa-miR-18a-3p	CLASH	23622248
MIRT040439	hsa-miR-615-3p	CLASH	23622248
MIRT1965049	hsa-miR-548ac	CLIP-seq
MIRT1965050	hsa-miR-548ae	CLIP-seq
MIRT1965051	hsa-miR-548aj	CLIP-seq
MIRT1965052	hsa-miR-548am	CLIP-seq
MIRT1965053	hsa-miR-548d-3p	CLIP-seq
MIRT1965054	hsa-miR-548x	CLIP-seq
MIRT1965055	hsa-miR-548z	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0005515	Function	Protein binding	IPI	18654987
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	23145069
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10529385
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	TAS	10529385
GO:0030332	Function	Cyclin binding	IEA
GO:0032298	Process	Positive regulation of DNA-templated DNA replication initiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051457	Process	Maintenance of protein location in nucleus	IEA
GO:0060816	Process	Random inactivation of X chromosome	IEA

Other IDs

• MIM: 611420
• HGNC: 16744
• e!Ensembl: ENSG00000148337

Protein

• UniProt ID: Q9ULV3
• Protein name: Cip1-interacting zinc finger protein (CDKN1A-interacting zinc finger protein 1) (Nuclear protein NP94) (Zinc finger protein 356)
• Protein function: May regulate the subcellular localization of CIP/WAF1.
• PDB: 7X39
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12171	zf-C2H2_jaz	684 → 710	Zinc-finger double-stranded RNA-binding	Family

• Sequence:

  MFSQQQQQQLQQQQQQLQQLQQQQLQQQQLQQQQLLQLQQLLQQSPPQAPLPMAVSRGLP
  PQQPQQPLLNLQGTNSASLLNGSMLQRALLLQQLQGLDQFAMPPATYDTAGLTMPTATLG
  NLRGYGMASPGLAAPSLTPPQLATPNLQQFFPQATRQSLLGPPPVGVPMNPSQFNLSGRN
  PQKQARTSSSTTPNRKDSSSQTMPVEDKSDPPEGSEEAAEPRMDTPEDQDLPPCPEDIAK
  EKRTPAPEPEPCEASELPAKRLRSSEEPTEKEPPGQLQVKAQPQARMTVPKQTQTPDLLP
  EALEAQVLPRFQPRVLQVQAQVQSQTQPRIPSTDTQVQPKLQKQAQTQTSPEHLVLQQKQ
  VQPQLQQEAEPQKQVQPQVQPQAHSQGPRQVQLQQEAEPLKQVQPQVQPQAHSQPPRQVQ
  LQLQKQVQTQTYPQVHTQAQPSVQPQEHPPAQVSVQPPEQTHEQPHTQPQVSLLAPEQTP
  VVVHVCGLEMPPDAVEAGGGMEKTLPEPVGTQVSMEEIQNESACGLDVGECENRAREMPG
  VWGAGGSLKVTILQSSDSRAFSTVPLTPVPRPSDSVSSTPAATSTPSKQALQFFCYICKA
  SCSSQQEFQDHMSEPQHQQRLGEIQHMSQACLLSLLPVPRDVLETEDEEPPPRRWCNTCQ
  LYYMGDLIQHRRTQDHKIAKQSLRPFCTVCNRYFKTPRKFVEHVKSQGHKDKAKELKSLE
  KEIAGQDEDHFITVDAVGCFEGDEEEEEDDEDEEEIEVEEELCKQVRSRDISREEWKGSE
  TYSPNTAYGVDFLVPVMGYICRICHKFYHSNSGAQLSHCKSLGHFENLQKYKAAKNPSPT
  TRPVSRRCAINARNALTALFTSSGRPPSQPNTQDKTPSKVTARPSQPPLPRRSTRLKT

• Sequence length: 898

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL DYSTONIA, PRIMARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIZ1-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia 23	Uncertain significance	ClinVar Disgenet, GenCC Disgenet, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DYSTONIA DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia, primary cervical	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonic disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOMA, EWING	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TORSION DYSTONIA 7	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Variant of unknown significance	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Medulloblastoma	Medulloblastoma	BEFREE	12824700		★☆☆☆☆ Found in Text Mining only
Adult-onset cervical dystonia, DYT23 type	Cervical Dystonia	Orphanet			★☆☆☆☆ Found in Text Mining only
Adult-Onset Dystonias	Dystonia	BEFREE	22989765		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31252164		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	40067149	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25427641	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	25553473		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26906552	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31252164		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23074256, 30107825		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
CERVICAL DYSTONIA, PRIMARY	Dystonia	BEFREE	22447717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL DYSTONIA, PRIMARY	Dystonia	CTD_human_DG	22447717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Medulloblastoma	Medulloblastoma	BEFREE	12824700		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24126760		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24126760		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10074457, 11553700, 11879655, 12509422, 14985377, 15509649, 15731758, 1674590, 17460227, 17463283, 18250322, 1828536, 1832879, 19502294, 19633650, 19665976, 20428113, 20700442, 21102612, 21441247, 21926968, 21927001, 22099461, 22233676, 23092955, 23781021, 25262651, 25533962, 26611353, 26648591, 28667181, 6304244, 7877693, 7877694, 7962076, 8290576, 8360266, 9294229		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	35041927	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 23	Dystonia	ORPHANET_DG	22447717		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DYSTONIA 23	Dystonia	GENOMICS_ENGLAND_DG	22447717		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DYSTONIA 7, TORSION (disorder)	Dystonia	CTD_human_DG	22447717		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	23449625, 23849371, 24262166, 29154038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia Musculorum Deformans	Dystonia	BEFREE	23222958		★☆☆☆☆ Found in Text Mining only
Dystonia musculorum deformans type 1	Dystonia musculorum deformans	Pubtator	23222958	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia, Primary	Dystonia	BEFREE	23775978		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	23449625	Associate	★☆☆☆☆ Found in Text Mining only
Early onset torsion dystonia	Dystonia	BEFREE	23222958		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31	Epileptic encephalopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	17508423		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	CTD_human_DG	17508423		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	25427641		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	25427641	Stimulate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangioma	Hemangioma	BEFREE	30456533		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26515335, 26906552		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20831784, 30107825	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	23074256		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	28546514		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	25427641		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23074256, 30107825		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	24763052		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31252164		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23074256, 26515335, 29285191, 30107825		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24126760		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17108141		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	12824700		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25553473, 29285191, 30280956		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29154038		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	23849371	Associate	★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25553473		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	24763052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	26861296		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	23074256		★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	29285191		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	30107825	Associate	★☆☆☆☆ Found in Text Mining only
Writer`s Cramp	Writer`s Cramp	HPO_DG			★☆☆☆☆ Found in Text Mining only