CIZ1 CDKN1A interacting zinc finger protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CIZ1provided by HGNC
Official Full Name: CDKN1A interacting zinc finger protein 1provided by HGNC
Primary source: HGNC:HGNC:16744
See related: Ensembl:ENSG00000148337 MIM:611420; AllianceGenome:HGNC:16744
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NP94; LSFR1; ZNF356
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 have been found for this gene. [provided by RefSeq, Apr 2012]
Expression: Ubiquitous expression in ovary (RPKM 30.0), testis (RPKM 29.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.11

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (128166065..128204222, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (140373145..140411302, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (130928344..130966501, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Upregulation of lncRNA DANCR functions as an oncogenic role in non-small lung cancer by regulating miR-214-5p/CIZ1 axis.
Title: Upregulation of lncRNA DANCR functions as an oncogenic role in non-small lung cancer by regulating miR-214-5p/CIZ1 axis.
High CIZ1 expression is associated with Hemangioma of the Tongue.
Title: CIZ1 Expression Is Upregulated in Hemangioma of the Tongue.
silencing of CIZ1 suppressed bladder cancer cell proliferation through inducing apoptosis and reducing cell cycle progression
Title: CIZ1 knockdown suppresses the proliferation of bladder cancer cells by inducing apoptosis.
data reveal that CIZ1 plays a major role in ensuring stable association of Xist RNA within the Xi territory.
Title: Repeat E anchors Xist RNA to the inactive X chromosomal compartment through CDKN1A-interacting protein (CIZ1).
our study demonstrated that CIZ1 is a positive regulator of YAP signaling, and CIZ1 might be a therapeutic target for hepatocellular carcinoma
Title: CIZ1 interacts with YAP and activates its transcriptional activity in hepatocellular carcinoma cells.
CIZ1 activates YAP/TAZ signaling in human hepatocellular carcinoma cells.
Title: CIZ1 is upregulated in hepatocellular carcinoma and promotes the growth and migration of the cancer cells.
CIZ1 is a kinase sensor that promotes initiation of DNA replication at low kinase levels, when in a hypophosphorylated state that is permissive for cyclin-A-CDK2 interaction and delivery to licensed origins.
Title: Cyclin-A-CDK2-mediated phosphorylation of CIZ1 blocks replisome formation and initiation of mammalian DNA replication.
The results of this study showed CIZ1 will play a less important role in dystonia patient diagnosis than previously thought because variants of unclear significance are observed in approximately 1% of adult-onset sporadic dystonia patients in Germany.
Title: Mutations in CIZ1 are not a major cause for dystonia in Germany.
Our study demonstrated that CIZ1 played an oncogenic role in the progression of GBC and CIZ1 might be a promising target for the treatment of GBC
Title: CIZ1 promoted the growth and migration of gallbladder cancer cells.
This study suggested that No mutations in CIZ1 in twelve adult-onset primary cervical dystonia families.
Title: No mutations in CIZ1 in twelve adult-onset primary cervical dystonia families.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G09849 (e-PCR)
- UniSTS:10276

SHGC-6051 (e-PCR)
- UniSTS:340

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cyclin binding	IEA Inferred from Electronic Annotation more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in maintenance of protein location in nucleus	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated DNA replication initiation	IEA Inferred from Electronic Annotation more info
involved_in random inactivation of X chromosome	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: cip1-interacting zinc finger protein

Names: nuclear protein NP94; zinc finger protein 356

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032983.1 RefSeqGene

Range

17812..43319

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001131015.2 → NP_001124487.1 cip1-interacting zinc finger protein isoform 2

See identical proteins and their annotated locations for NP_001124487.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate exon in place of the first exon, lacks an alternate in-frame exon, and lacks an alternate in-frame segment compared to variant 6. The resulting isoform (2) is shorter at the N-terminus and lacks two alternate internal segments compared to isoform 5.

Source sequence(s)

AK023978, BC004119, BC021163

Consensus CDS

CCDS48034.1

UniProtKB/TrEMBL

B4E0A3

Related

ENSP00000362039.3, ENST00000372948.7

Conserved Domains (4) summary

smart00451
Location:536 → 565

ZnF_U1; U1-like zinc finger

sd00020
Location:600 → 620

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam12171
Location:630 → 654

zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding

cl26464
Location:117 → 426

Atrophin-1; Atrophin-1 family
NM_001131016.2 → NP_001124488.1 cip1-interacting zinc finger protein isoform 1

See identical proteins and their annotated locations for NP_001124488.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) has an alternate exon in place of the first exon and lacks an alternate in-frame exon compared to variant 6. The resulting isoform (1) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform 5. Variants 1 and 5 encode the same isoform (1).

Source sequence(s)

AK292713, AK303636, BC021163

Consensus CDS

CCDS6894.1

UniProtKB/Swiss-Prot

A8K9J8, B4E131, B7ZAS8, Q5SYW3, Q5SYW5, Q8WU72, Q9H868, Q9NYM8, Q9UHK4, Q9ULV3, Q9Y3F9, Q9Y3G0

UniProtKB/TrEMBL

B7Z3U7

Related

ENSP00000362029.5, ENST00000372938.10

Conserved Domains (4) summary

smart00451
Location:592 → 621

ZnF_U1; U1-like zinc finger

sd00020
Location:656 → 676

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam12171
Location:686 → 710

zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding

cl26464
Location:129 → 482

Atrophin-1; Atrophin-1 family
NM_001131017.2 → NP_001124489.1 cip1-interacting zinc finger protein isoform 3

See identical proteins and their annotated locations for NP_001124489.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an alternate exon in place of the first exon, lacks an alternate in-frame exon, and lacks an alternate in-frame segment compared to variant 6. The resulting isoform (3) is shorter at the N-terminus and lacks two alternate internal segments compared to isoform 5.

Source sequence(s)

AK303288, BC021163

UniProtKB/TrEMBL

B4E0A3

Related

ENSP00000498625.1, ENST00000651955.1

Conserved Domains (4) summary

smart00451
Location:531 → 560

ZnF_U1; U1-like zinc finger

COG5112
Location:605 → 656

UFD2; U1-like Zn-finger-containing protein [General function prediction only]

sd00020
Location:595 → 615

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam12171
Location:625 → 649

zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
NM_001131018.2 → NP_001124490.1 cip1-interacting zinc finger protein isoform 4

See identical proteins and their annotated locations for NP_001124490.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) has an alternate exon in place of the first exon, lacks two alternate in-frame exons, and lacks an alternate in-frame segment compared to variant 6. The resulting isoform (4) is shorter at the N-terminus and lacks three alternate internal segments compared to isoform 5.

Source sequence(s)

BC021163, BM757318

Consensus CDS

CCDS48033.1

UniProtKB/TrEMBL

B4E0A3

Related

ENSP00000362045.1, ENST00000372954.5

Conserved Domains (4) summary

smart00451
Location:512 → 541

ZnF_U1; U1-like zinc finger

COG5112
Location:586 → 637

UFD2; U1-like Zn-finger-containing protein [General function prediction only]

sd00020
Location:576 → 596

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam12171
Location:606 → 630

zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
NM_001257975.2 → NP_001244904.1 cip1-interacting zinc finger protein isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (6) represents the longest transcript. The resulting isoform (5) may be the longest isoform; however, the N-terminus of this isoform is only predicted and not supported by experimental data.

Source sequence(s)

AK296363, AL590708, BC021163

Consensus CDS

CCDS75910.1

UniProtKB/TrEMBL

B7Z3U7, F5H2X7

Related

ENSP00000439244.2, ENST00000538431.5

Conserved Domains (2) summary

smart00451
Location:622 → 651

ZnF_U1; U1-like zinc finger

pfam12171
Location:742 → 766

zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
NM_001257976.2 → NP_001244905.1 cip1-interacting zinc finger protein isoform 6

See identical proteins and their annotated locations for NP_001244905.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) has an alternate exon in place of the first exon, lacks an alternate in-frame exon, and lacks another alternate exon compared to variant 6, that causes a frameshift. The resulting isoform (6) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform 5.

Source sequence(s)

AK303636, AL590708, BC021163

Consensus CDS

CCDS59147.1

UniProtKB/TrEMBL

H0Y5D5

Related

ENSP00000486816.1, ENST00000629610.2

Conserved Domains (4) summary

smart00451
Location:491 → 520

ZnF_U1; U1-like zinc finger

COG5112
Location:565 → 616

UFD2; U1-like Zn-finger-containing protein [General function prediction only]

sd00020
Location:555 → 575

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam12171
Location:585 → 609

zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
NM_012127.3 → NP_036259.2 cip1-interacting zinc finger protein isoform 1

See identical proteins and their annotated locations for NP_036259.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) has an alternate exon in place of the first exon and lacks an alternate in-frame exon compared to variant 6. The resulting isoform (1) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform 5. Variants 1 and 5 encode the same isoform (1).

Source sequence(s)

AF159025, AK023978, BC021163

Consensus CDS

CCDS6894.1

UniProtKB/Swiss-Prot

A8K9J8, B4E131, B7ZAS8, Q5SYW3, Q5SYW5, Q8WU72, Q9H868, Q9NYM8, Q9UHK4, Q9ULV3, Q9Y3F9, Q9Y3G0

UniProtKB/TrEMBL

B7Z3U7

Related

ENSP00000489425.1, ENST00000634901.1

Conserved Domains (4) summary

smart00451
Location:592 → 621

ZnF_U1; U1-like zinc finger

sd00020
Location:656 → 676

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam12171
Location:686 → 710

zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding

cl26464
Location:129 → 482

Atrophin-1; Atrophin-1 family