ZC3H7B zinc finger CCCH-type containing 7B [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZC3H7Bprovided by HGNC
Official Full Name: zinc finger CCCH-type containing 7Bprovided by HGNC
Primary source: HGNC:HGNC:30869
See related: Ensembl:ENSG00000100403 MIM:618206; AllianceGenome:HGNC:30869
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: RoXaN; ROXAN1
Summary: This gene encodes a protein that contains a tetratricopeptide repeat domain. The encoded protein also interacts with the rotavirus non-structural protein NSP3. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in kidney (RPKM 25.2), ovary (RPKM 25.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.2

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (41301525..41360147)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (41780357..41838975)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (41697529..41756151)

Chromosome 22 - NC_000022.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

we find that ESS with ZC3H7B-BCOR fusion constitutes a novel type of high-grade endometrial stromal sarcoma and shares significant morphologic overlap with myxoid leiomyosarcoma.
Title: Novel High-grade Endometrial Stromal Sarcoma: A Morphologic Mimicker of Myxoid Leiomyosarcoma.
ZC3H7B-BCOR and MEAF6-PHF1 fusions occurred predominantly in S100 protein-negative and malignant ossifying fibromyxoid tumors.
Title: Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors--molecular characterization shows genetic overlap with endometrial stromal sarcoma.
The present study further expands the genetic spectrum of small blue round cell tumors, with 2 novel fusions, BCOR-MAML3 and ZC3H7B-BCOR, identified
Title: Novel BCOR-MAML3 and ZC3H7B-BCOR Gene Fusions in Undifferentiated Small Blue Round Cell Sarcomas.
Reverse transciptase-PCR with the ZC3H7B forward and BCOR reverse primer combinations confirmed the presence of a ZC3H7-BCOR chimeric transcript in both ESS carrying a der(22)t(X;22) but not in a control ESS with t(1;6) and the MEAF6-PHF1 fusion.
Title: Fusion of the ZC3H7B and BCOR genes in endometrial stromal sarcomas carrying an X;22-translocation.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
nuclear localization of PABP-C1 not only is dependent on the capacity of rotavirus NSP3 to interact with eIF4G but also requires the interaction of NSP3 with a specific region in RoXaN
Title: Nuclear localization of cytoplasmic poly(A)-binding protein upon rotavirus infection involves the interaction of NSP3 with eIF4G and RoXaN.
RoXaN is capable of interacting with NSP3 and eIF4G I in vivo and during rotavirus infection. Domains of interaction were mapped.
Title: RoXaN, a novel cellular protein containing TPR, LD, and zinc finger motifs, forms a ternary complex with eukaryotic initiation factor 4G and rotavirus NSP3.

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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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of zinc finger CCCH-type containing 7B (ZC3H7B) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

D22S1546 (e-PCR)
- UniSTS:42154

L18441 (e-PCR)
- UniSTS:71348

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables miRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables miRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in miRNA processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in miRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_positive_effect post-transcriptional regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: zinc finger CCCH domain-containing protein 7B

Names: Rotavirus 'X' associated non-structural protein; rotavirus 'X'-associated non-structural protein; rotavirus X protein associated with NSP3; ubiquitous tetratricopeptide containing protein RoXaN

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_017590.6 → NP_060060.3 zinc finger CCCH domain-containing protein 7B

See identical proteins and their annotated locations for NP_060060.3

Status: REVIEWED

Source sequence(s)

AL035659

Consensus CDS

CCDS14013.1

UniProtKB/Swiss-Prot

A7YY88, B2RCA4, Q5TFX9, Q8TBT9, Q9H8B6, Q9UGQ9, Q9UGR0, Q9UGR1, Q9UGR2, Q9UK03, Q9UPW9

Related

ENSP00000345793.4, ENST00000352645.5

Conserved Domains (6) summary

sd00020
Location:844 → 866

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00006
Location:39 → 64

TPR; TPR repeat [structural motif]

pfam00515
Location:83 → 112

TPR_1; Tetratricopeptide repeat

pfam00642
Location:890 → 913

zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)

pfam12171
Location:844 → 867

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

pfam13414
Location:37 → 112

TPR_11; TPR repeat