ZBTB10 zinc finger and BTB domain containing 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZBTB10provided by HGNC
Official Full Name: zinc finger and BTB domain containing 10provided by HGNC
Primary source: HGNC:HGNC:30953
See related: Ensembl:ENSG00000205189 MIM:618576; AllianceGenome:HGNC:30953
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: RINZF
Summary: Enables telomeric DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Located in chromosome, telomeric region and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in prostate (RPKM 6.2), placenta (RPKM 5.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q21.13

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (80485593..80526265)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (80917153..80957852)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (81397828..81438500)

Chromosome 8 - NC_000008.11 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 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?

Intermittent Hypoxia Promotes TAM-Induced Glycolysis in Laryngeal Cancer Cells via Regulation of HK1 Expression through Activation of ZBTB10.
Title: Intermittent Hypoxia Promotes TAM-Induced Glycolysis in Laryngeal Cancer Cells via Regulation of HK1 Expression through Activation of ZBTB10.
Structural insights into the recognition of telomeric variant repeat TTGGGG by broad-complex, tramtrack and bric-a-brac - zinc finger protein ZBTB10.
Title: Structural insights into the recognition of telomeric variant repeat TTGGGG by broad-complex, tramtrack and bric-à-brac - zinc finger protein ZBTB10.
MiR-361-5p promotes proliferation and inhibits apoptosis of fibroblast-like synoviocytes via targeting ZBTB10 in rheumatoid arthritis.
Title: MiR-361-5p promotes proliferation and inhibits apoptosis of fibroblast-like synoviocytes via targeting ZBTB10 in rheumatoid arthritis.
Pyruvate kinase L/R links metabolism dysfunction to neuroendocrine differentiation of prostate cancer by ZBTB10 deficiency.
Title: Pyruvate kinase L/R links metabolism dysfunction to neuroendocrine differentiation of prostate cancer by ZBTB10 deficiency.
ZBTB10 co-localizes with a subset of telomeres in ALT-positive U2OS cells and interacts with TRF2/RAP1 via the N-terminal region of TRF2. Our data establishes ZBTB10 as a novel variant repeat binding protein at ALT telomeres.
Title: ZBTB10 binds the telomeric variant repeat TTGGGG and interacts with TRF2.
Sp1, Sp3, and Sp4 and Sp-regulated genes were downregulated by curcuminoids in SW-480 and this was accompanied by suppression of microRNA-27a (miR-27a) and induction of ZBTB10, an mRNA target of miR-27a and a transcriptional repressor of Sp expression.
Title: The drug resistance suppression induced by curcuminoids in colon cancer SW-480 cells is mediated by reactive oxygen species-induced disruption of the microRNA-27a-ZBTB10-Sp axis.
Collectively, these results indicated that stimulation of ovarian cancer cell VEGF, Cox2 and survivin expression by FSH involves the microRNA27a: ZBTB10-specificity protein pathway.
Title: The microRNA-27a: ZBTB10-specificity protein pathway is involved in follicle stimulating hormone-induced VEGF, Cox2 and survivin expression in ovarian epithelial cancer cells.
Study show that miR-27a indirectly regulates E2-responsiveness in MCF-7 cells through suppression of ZBTB10, thereby enhancing expression of ERalpha.
Title: MicroRNA-27a Indirectly Regulates Estrogen Receptor {alpha} Expression and Hormone Responsiveness in MCF-7 Breast Cancer Cells.

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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

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel associations for hypothyroidism include known autoimmune risk loci. 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

RH102223 (e-PCR)
- UniSTS:96557

RH120455 (e-PCR)
- UniSTS:133450

RH11916 (e-PCR)
- UniSTS:5195

ZBTB10__4922 (e-PCR)
- UniSTS:462951

RH78774 (e-PCR)
- UniSTS:55232

RH68928 (e-PCR)
- UniSTS:71117

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity 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 telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: zinc finger and BTB domain-containing protein 10

Names: zinc finger protein RIN ZF; zinc finger protein RINZF

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_001105539.3 → NP_001099009.1 zinc finger and BTB domain-containing protein 10 isoform a

See identical proteins and their annotated locations for NP_001099009.1

Status: VALIDATED

Description

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

Source sequence(s)

AC009812, AI627858, BC050061, BC127098

Consensus CDS

CCDS47880.1

UniProtKB/Swiss-Prot

A4FVD0, Q86W96, Q8IXI9, Q96DT7, Q96MH9

UniProtKB/TrEMBL

A8E4L4

Related

ENSP00000412036.3, ENST00000455036.8

Conserved Domains (5) summary

smart00597
Location:249 → 316

ZnF_TTF; zinc finger in transposases and transcription factors

sd00017
Location:724 → 744

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18201
Location:343 → 464

BTB_POZ_ZBTB10; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 10 (ZBTB10)

pfam13465
Location:737 → 761

zf-H2C2_2; Zinc-finger double domain

pfam13909
Location:722 → 746

zf-H2C2_5; C2H2-type zinc-finger domain
NM_001277145.2 → NP_001264074.1 zinc finger and BTB domain-containing protein 10 isoform c

See identical proteins and their annotated locations for NP_001264074.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate exon in the 5' UTR and coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AC009812, AI627858, AK056913

Consensus CDS

CCDS64920.1

UniProtKB/Swiss-Prot

Q96DT7

Related

ENSP00000368384.4, ENST00000379091.8

Conserved Domains (4) summary

sd00017
Location:432 → 452

ZF_C2H2; C2H2 Zn finger [structural motif]

cl38908
Location:51 → 172

BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

pfam13465
Location:445 → 469

zf-H2C2_2; Zinc-finger double domain

pfam13909
Location:430 → 454

zf-H2C2_5; C2H2-type zinc-finger domain
NM_023929.5 → NP_076418.3 zinc finger and BTB domain-containing protein 10 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks a segment in an internal exon, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AC009812, AI627858, AK022814, BC127098

UniProtKB/Swiss-Prot

Q96DT7

UniProtKB/TrEMBL

Q9H9H3

Related

ENSP00000416134.2, ENST00000426744.5

Conserved Domains (6) summary

smart00225
Location:365 → 461

BTB; Broad-Complex, Tramtrack and Bric a brac

smart00597
Location:249 → 316

ZnF_TTF; zinc finger in transposases and transcription factors

sd00017
Location:700 → 720

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00651
Location:354 → 460

BTB; BTB/POZ domain

pfam13465
Location:713 → 737

zf-H2C2_2; Zinc-finger double domain

pfam13909
Location:698 → 720

zf-H2C2_5; C2H2-type zinc-finger domain