CASZ1 castor zinc finger 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CASZ1provided by HGNC
Official Full Name: castor zinc finger 1provided by HGNC
Primary source: HGNC:HGNC:26002
See related: Ensembl:ENSG00000130940 MIM:609895; AllianceGenome:HGNC:26002
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: CST; SRG; CAS11; ZNF693; dJ734G22.1
Summary: The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
Expression: Broad expression in skin (RPKM 7.7), prostate (RPKM 5.8) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.22

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (10636604..10796646, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (10180201..10340363, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (10696661..10856703, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Loss of CASZ1 tumor suppressor linked to oncogenic subversion of neuroblastoma core regulatory circuitry.
Title: Loss of CASZ1 tumor suppressor linked to oncogenic subversion of neuroblastoma core regulatory circuitry.
Circular RNA circANKRD36 regulates Casz1 by targeting miR-599 to prevent osteoarthritis chondrocyte apoptosis and inflammation.
Title: Circular RNA circANKRD36 regulates Casz1 by targeting miR-599 to prevent osteoarthritis chondrocyte apoptosis and inflammation.
Epigenome-Wide Association Study for All-Cause Mortality in a Cardiovascular Cohort Identifies Differential Methylation in Castor Zinc Finger 1 (CASZ1).
Title: Epigenome-Wide Association Study for All-Cause Mortality in a Cardiovascular Cohort Identifies Differential Methylation in Castor Zinc Finger 1 (CASZ1).
A variant of the castor zinc finger 1 (CASZ1) gene is differentially associated with the clinical classification of chronic venous disease.
Title: A variant of the castor zinc finger 1 (CASZ1) gene is differentially associated with the clinical classification of chronic venous disease.
CASZ1 up-regulates MYOD signature genes and induces skeletal muscle differentiation in normal myoblasts and Embryonal rhabdomyosarcoma.
Title: CASZ1 induces skeletal muscle and rhabdomyosarcoma differentiation through a feed-forward loop with MYOD and MYOG.
only rs11121615 (CASZ1)reached a nominal significance level of P < .05. Results of original GWAS and replication studies were combined by a meta-analysis, and polymorphisms listed above as well as rs111434909 (ANGPT1) and rs4463578 passed a genome-wide significant threshold.
Title: Polymorphisms of genes involved in inflammation and blood vessel development influence the risk of varicose veins.
these data identify Casz1 as a new Th plasticity regulator having important clinical implications for autoimmune inflammation and mucosal immunity.
Title: Identification of Casz1 as a Regulatory Protein Controlling T Helper Cell Differentiation, Inflammation, and Immunity.
Collectively, our proteomic, biochemical, genetic, and structural studies suggest that the physical interaction between TBX20 and CASZ1 is required for cardiac homeostasis, and further, that reduction or loss of this critical interaction leads to dilated cardiomyopathy (DCM)
Title: Formation of a TBX20-CASZ1 protein complex is protective against dilated cardiomyopathy and critical for cardiac homeostasis.
These findings provide insight into mechanisms by which CASZ1 regulates transcription, and suggests that regulation of CASZ1 subcellular localization may impact its function in normal development and pathologic conditions such as NB tumorigenesis.
Title: Identification of CASZ1 NES reveals potential mechanisms for loss of CASZ1 tumor suppressor activity in neuroblastoma.
The current study reveals CASZ1 as a new gene responsible for human dilated cardiomyopathy (DCM), which provides novel mechanistic insight and potential therapeutic target for CASZ1-associated DCM, implying potential implications in improved prophylactic and therapeutic strategies for DCM, the most common type of primary myocardial disease.
Title: CASZ1 loss-of-function mutation contributes to familial dilated cardiomyopathy.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2019-04-25) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2019-04-25) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of blood pressure and hypertension. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies new susceptibility loci for migraine. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-58917 (e-PCR)
- UniSTS:94474

D1S1327 (e-PCR)
- UniSTS:149524

SHGC-148892 (e-PCR)
- UniSTS:176669

D1S1401 (e-PCR)
- UniSTS:149597

AL009635 (e-PCR)
- UniSTS:80271

D1S2213 (e-PCR)
- UniSTS:149157

SHGC-148685 (e-PCR)
- UniSTS:176550

SHGC-31243 (e-PCR)
- UniSTS:17344

D1S3153 (e-PCR)
- UniSTS:60867

D4Ertd432e (e-PCR), detects polymorphism
- UniSTS:167395

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: zinc finger protein castor homolog 1

Names: castor homolog 1, zinc finger; castor-related protein; survival-related; zinc finger protein 693

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.

mRNA and Protein(s)

NM_001079843.3 → NP_001073312.1 zinc finger protein castor homolog 1 isoform a

See identical proteins and their annotated locations for NP_001073312.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AA449398, AK092289, AL139423, BC004410, BC051883, DQ217660

Consensus CDS

CCDS41246.1

UniProtKB/Swiss-Prot

Q86V15, Q9NXC6

UniProtKB/TrEMBL

B3KRV8

Related

ENSP00000366221.3, ENST00000377022.8
NM_017766.5 → NP_060236.3 zinc finger protein castor homolog 1 isoform b

See identical proteins and their annotated locations for NP_060236.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks several exons and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. It encodes isoform b which is shorter and has a distinct C-terminus, compared to isoform a.

Source sequence(s)

AK000328, AK092289, AL139423, BC004410, BC051883

Consensus CDS

CCDS120.2

UniProtKB/Swiss-Prot

Q86V15

UniProtKB/TrEMBL

B3KRV8

Related

ENSP00000339445.5, ENST00000344008.5