ZSCAN4 zinc finger and SCAN domain containing 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZSCAN4provided by HGNC
Official Full Name: zinc finger and SCAN domain containing 4provided by HGNC
Primary source: HGNC:HGNC:23709
See related: Ensembl:ENSG00000180532 MIM:613419; AllianceGenome:HGNC:23709
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ZNF494
Summary: The ZSCAN4 gene encodes a protein involved in telomere maintenance and with a key role in the critical feature of mouse embryonic stem (ES) cells, namely, defying cellular senescence and maintaining normal karyotype for many cell divisions in culture (Zalzman et al., 2010 [PubMed 20336070]).[supplied by OMIM, May 2010]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 19q13.43

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (57651476..57679152)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (60748405..60776081)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (58162844..58190520)

Chromosome 19 - NC_000019.10 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?

ZSCAN4-binding motif-TGCACAC is conserved and enriched in CA/TG microsatellites in both mouse and human genomes.
Title: ZSCAN4-binding motif-TGCACAC is conserved and enriched in CA/TG microsatellites in both mouse and human genomes.
Low expression of ZSCAN4 predicts unfavorable outcome in urothelial carcinoma of upper urinary tract and urinary bladder.
Title: Low expression of ZSCAN4 predicts unfavorable outcome in urothelial carcinoma of upper urinary tract and urinary bladder.
The Zscan4-Tet2 Transcription Nexus Regulates Metabolic Rewiring and Enhances Proteostasis to Promote Reprogramming.
Title: The Zscan4-Tet2 Transcription Nexus Regulates Metabolic Rewiring and Enhances Proteostasis to Promote Reprogramming.
ZSCAN4 facilitates chromatin remodeling and promotes the cancer stem cell phenotype.
Title: ZSCAN4 facilitates chromatin remodeling and promotes the cancer stem cell phenotype.
The senescence-associated secretory phenotype is potentiated by feedforward regulatory mechanisms involving Zscan4 and TAK1.
Title: The senescence-associated secretory phenotype is potentiated by feedforward regulatory mechanisms involving Zscan4 and TAK1.
RNF20 depletion stabilizes the ZSCAN4 protein half-life, suggesting that RNF20 negatively regulates ZSCAN4 stability.
Title: ZSCAN4 is negatively regulated by the ubiquitin-proteasome system and the E3 ubiquitin ligase RNF20.
Zscan4 may play critical roles during late meiotic prophase in both males and females.
Title: Zscan4 is expressed specifically during late meiotic prophase in both spermatogenesis and oogenesis.
the expression and function of each gene copy of Zscan4 locus in a physiological context, is reported.
Title: Expression analysis of the endogenous Zscan4 locus and its coding proteins in mouse ES cells and preimplantation embryos.
ZSCAN4 indirectly interacts with TRF1 in cancer cells. We show that ZSCAN4 plays an important role independent of telomere maintenance pathways (telomerase positive and alternative pathway) or cell lineage.
Title: ZSCAN4 and TRF1: A functionally indirect interaction in cancer cells independent of telomerase activity.
The direct interaction between Zscan4 and Rap1 may explain how Zscan4 rapidly increases telomere length, yielding important information about the role of these proteins in telomere biology.
Title: Zscan4 interacts directly with human Rap1 in cancer cells regardless of telomerase status.

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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:495136

ZNF494__4858 (e-PCR)
- UniSTS:471801

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in negative regulation of mitotic recombination	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere maintenance via telomere lengthening	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: zinc finger and SCAN domain-containing protein 4

Names: zinc finger protein 494

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_001384833.1 → NP_001371762.1 zinc finger and SCAN domain-containing protein 4

Status: VALIDATED

Source sequence(s)

AC003682, AC004017

Consensus CDS

CCDS12958.1

UniProtKB/Swiss-Prot

Q3MIQ2, Q8NAM6

Conserved Domains (4) summary

cd07936
Location:40 → 124

SCAN; SCAN oligomerization domain

sd00017
Location:342 → 362

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:368 → 390

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:382 → 407

zf-H2C2_2; Zinc-finger double domain
NM_152677.4 → NP_689890.1 zinc finger and SCAN domain-containing protein 4

See identical proteins and their annotated locations for NP_689890.1

Status: VALIDATED

Source sequence(s)

AC004017

Consensus CDS

CCDS12958.1

UniProtKB/Swiss-Prot

Q3MIQ2, Q8NAM6

Related

ENSP00000321963.4, ENST00000318203.9

Conserved Domains (4) summary

cd07936
Location:40 → 124

SCAN; SCAN oligomerization domain

sd00017
Location:342 → 362

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:368 → 390

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:382 → 407

zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

57651476..57679152

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017026458.1 → XP_016881947.1 zinc finger and SCAN domain-containing protein 4 isoform X1

UniProtKB/Swiss-Prot

Q3MIQ2, Q8NAM6

Conserved Domains (4) summary

cd07936
Location:40 → 124

SCAN; SCAN oligomerization domain

sd00017
Location:342 → 362

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:368 → 390

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:382 → 407

zf-H2C2_2; Zinc-finger double domain