ZAR1 zygote arrest 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZAR1provided by HGNC
Official Full Name: zygote arrest 1provided by HGNC
Primary source: HGNC:HGNC:20436
See related: Ensembl:ENSG00000182223 MIM:607520; AllianceGenome:HGNC:20436
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: Z3CXXC6
Summary: This maternal effect gene is oocyte-specific and encodes a protein that is thought to function in the initiation of embryogenesis. A similar protein in mouse is required for female fertility. [provided by RefSeq, Jul 2013]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 4p11

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (48490252..48497635)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (48457286..48465127)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (48492269..48496406)

Chromosome 4 - NC_000004.12 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?

The ZAR1 protein in cancer; from epigenetic silencing to functional characterisation and epigenetic therapy of tumour suppressors.
Title: The ZAR1 protein in cancer; from epigenetic silencing to functional characterisation and epigenetic therapy of tumour suppressors.
Variation Screening of Zygote Arrest 1(ZAR1) in Women with Recurrent Zygote Arrest During IVF/ICSI Programs.
Title: Variation Screening of Zygote Arrest 1(ZAR1) in Women with Recurrent Zygote Arrest During IVF/ICSI Programs.
Study presents evidence that ZAR1, which harbors tumor suppressive properties, is a prognostic and diagnostic cancer biomarker for lung and kidney. ZAR1 suppresses tumor cell line growth in part through p53 and strongly depending on its functional zinc-finger.
Title: Epigenetic therapy of novel tumour suppressor ZAR1 and its cancer biomarker function.
ZAR1 has oncogenic effects in neuroblastoma by suppressing cell differentiation via regulation of MYCN expression.Elevated ZAR1 expression level is closely related to poor prognosis of patients with neuroblastoma.
Title: ZAR1 knockdown promotes the differentiation of human neuroblastoma cells by suppression of MYCN expression.
Study shows for the first time the lung tumor-specific epigenetic inactivation of ZAR1 due to DNA methylation of its CpG island promoter. Furthermore, ZAR1 was characterized by the ability to block tumor growth through the inhibition of cell cycle progression in cancer cell lines.
Title: ZAR1 is a novel epigenetically inactivated tumour suppressor in lung cancer.
A decreased methylation level at CpG sites of ZAR1 exon 1/intron 1. CpGi could serve as a biomarker for invasive bladder cancer.
Title: Identification of frequent differentially methylated region in sporadic bladder cancers.
ZAR1 and SFRP4 qMSP could be used as potential biomarker for CC diagnosis
Title: Evaluation of ZAR1 and SFRP4 methylation status as potentials biomarkers for diagnosis in cervical cancer: exploratory study phase I.
Hypermethylation of ZAR1 regions is extremely frequent in neuroblastomas and correlates with established markers of progressive disease and outcome.
Title: Non-promoter DNA hypermethylation of Zygote Arrest 1 (ZAR1) in neuroblastomas.
Findings indicate that non-promoter hypermethylation of ZAR1 is extremely frequent in diffuse gliomas and pituitary adenomas, but methylation-related aberrant ZAR1 expression is far less likely to be related to glioma tumorigenesis.
Title: Aberrant hypermethylation of non-promoter zygote arrest 1 (ZAR1) in human brain tumors.
we identified a frequently aberrant methylated region within the Zygote arrest 1 (ZAR1) gene in melanoma and demonstrated a distinct methylation pattern between melanoma and nevus.The involvement of ZAR1 in the carcinogenesis of melanoma remains unclear.
Title: Identification and analysis of an early diagnostic marker for malignant melanoma: ZAR1 intra-genic differential methylation.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

NoName (e-PCR)
- UniSTS:481604

NoName (e-PCR)
- UniSTS:483223

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA sequestering activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables mRNA 3'-UTR binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molecular condensate scaffold activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mRNA stabilization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in membraneless organelle assembly	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of translation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in oocyte maturation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in translation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cytoplasmic ribonucleoprotein granule	IEA Inferred from Electronic Annotation more info
is_active_in intracellular membraneless organelle	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: zygote arrest protein 1

Names: oocyte-specific maternal effect factor; zinc finger, 3CxxC-type 6

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_175619.3 → NP_783318.1 zygote arrest protein 1

See identical proteins and their annotated locations for NP_783318.1

Status: REVIEWED

Source sequence(s)

AC096952, AI217763, AY191416, BC136265

Consensus CDS

CCDS3483.1

UniProtKB/Swiss-Prot

Q86SH2

UniProtKB/TrEMBL

B9EG67

Related

ENSP00000329803.4, ENST00000327939.4

Conserved Domains (1) summary

pfam13695
Location:325 → 410

zf-3CxxC; Zinc-binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

48490252..48497635

Download

GenBank, FASTA, Sequence Viewer (Graphics)

RNA

XR_925129.4 RNA Sequence
XR_007096396.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

48457286..48465127

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054349911.1 → XP_054205886.1 zygote arrest protein 1 isoform X1

UniProtKB/TrEMBL

B9EG67
XM_054349912.1 → XP_054205887.1 zygote arrest protein 1 isoform X1

UniProtKB/TrEMBL

B9EG67