ZNF175 zinc finger protein 175 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNF175provided by HGNC
Official Full Name: zinc finger protein 175provided by HGNC
Primary source: HGNC:HGNC:12964
See related: Ensembl:ENSG00000105497 MIM:601139; AllianceGenome:HGNC:12964
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: OTK18
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription repressor activity, RNA polymerase II-specific; and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Located in cytosol and nucleolus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 3.4), ovary (RPKM 3.2) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 19q13.41

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (51571283..51592510)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (54659955..54681159)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (52074536..52095763)

Chromosome 19 - NC_000019.10 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: 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?

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.
OTK18 may play a role in neurotrophin production and consequently support neuronal survival.
Title: The effect of OTK18 upregulation in U937 cells on neuronal survival.
HIV-1 induces OTK18 expression through a YIN-YANG-1 mediated manner in human macrophages
Title: YY1 and FoxD3 regulate antiretroviral zinc finger protein OTK18 promoter activation induced by HIV-1 infection.
These data suggest that calpain and proteasome are involved in OTK18 endoproteolysis and degradation
Title: Calpain and proteasomal regulation of antiretroviral zinc finger protein OTK18 in human macrophages: visualization in live cells by intramolecular FRET.
Plasma OTK18 levels are positively correlated to CD8 T-cell counts, independent of HIV-1 status.
Title: OTK18 levels in plasma and cerebrospinal fluid correlate with viral load and CD8 T-cells in normal and AIDS patients.
These results suggest a role for OTK18 in innate immunity.
Title: Characterization of gene expression regulated by human OTK18 using Drosophila melanogaster as a model system for innate immunity.
OTK18/zinc finger protein 175 expression in brain mononuclear phagocytes is a signature for advanced HIV-1 encephalitis.
Title: OTK18 expression in brain mononuclear phagocytes parallels the severity of HIV-1 encephalitis.
Transcriptional suppressor OTK18 plays a role in macrophage control of viral replication during advanced HIV-1 infection.
Title: Molecular characterization of a putative antiretroviral transcriptional factor, OTK18.

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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
Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	OTK18 suppresses HIV-1 Tat-induced LTR promoter activity. The Kruppel-associated box (amino acids 1-115) and zinc finger regions (amino acids 300-711) of OTK18 are responsible for the transcriptional suppressive activities	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

SHGC-110678 (e-PCR)
- UniSTS:167982

G31547 (e-PCR)
- UniSTS:1449

RH12308 (e-PCR)
- UniSTS:58545

SHGC-32377 (e-PCR)
- UniSTS:69084

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	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-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	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay 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 transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleolus	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 protein 175

Names: zinc finger protein OTK18

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_007147.4 → NP_009078.1 zinc finger protein 175

See identical proteins and their annotated locations for NP_009078.1

Status: VALIDATED

Source sequence(s)

AC018755, AW500087, BC052997, BX474148, DB528741

Consensus CDS

CCDS12837.1

UniProtKB/Swiss-Prot

A8K9H2, Q9Y473

Related

ENSP00000262259.2, ENST00000262259.7

Conserved Domains (3) summary

smart00349
Location:27 → 85

KRAB; krueppel associated box

COG5048
Location:275 → 689

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:505 → 525

ZF_C2H2; C2H2 Zn finger [structural motif]