OTX1 orthodenticle homeobox 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OTX1provided by HGNC
Official Full Name: orthodenticle homeobox 1provided by HGNC
Primary source: HGNC:HGNC:8521
See related: Ensembl:ENSG00000115507 MIM:600036; AllianceGenome:HGNC:8521
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
Summary: This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mouse is required for proper brain and sensory organ development and can cause epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Expression: Biased expression in skin (RPKM 2.2), prostate (RPKM 0.7) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p15

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (63049735..63057831)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (63056812..63064908)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (63276870..63284966)

Chromosome 2 - NC_000002.12 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 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?

OTX1 regulates tumorigenesis and metastasis in glioma.
Title: OTX1 regulates tumorigenesis and metastasis in glioma.
MiR-195-5p suppresses gastric adenocarcinoma cell progression via targeting OTX1.
Title: MiR-195-5p suppresses gastric adenocarcinoma cell progression via targeting OTX1.
OTX1 promotes tumorigenesis and progression of cervical cancer by regulating the Wnt signaling pathway.
Title: OTX1 promotes tumorigenesis and progression of cervical cancer by regulating the Wnt signaling pathway.
Knockdown of circMYOF inhibits cell growth, metastasis, and glycolysis through miR-145-5p/OTX1 regulatory axis in laryngeal squamous cell carcinoma.
Title: Knockdown of circMYOF inhibits cell growth, metastasis, and glycolysis through miR-145-5p/OTX1 regulatory axis in laryngeal squamous cell carcinoma.
Overexpression of OTX1 promotes tumorigenesis in patients with esophageal squamous cell carcinoma.
Title: Overexpression of OTX1 promotes tumorigenesis in patients with esophageal squamous cell carcinoma.
Orthodenticle homeobox OTX1 is a potential prognostic biomarker for bladder cancer.
Title: Orthodenticle homeobox OTX1 is a potential prognostic biomarker for bladder cancer.
MicroRNA-4516 suppresses pancreatic cancer development via negatively regulating orthodenticle homeobox 1.
Title: MicroRNA-4516 suppresses pancreatic cancer development via negatively regulating orthodenticle homeobox 1.
Long noncoding RNA MAFG-AS1 facilitates the progression of hepatocellular carcinoma via targeting miR-3196/OTX1 axis.
Title: Long noncoding RNA MAFG-AS1 facilitates the progression of hepatocellular carcinoma via targeting miR-3196/OTX1 axis.
OTX1 is a novel regulator of proliferation, migration, invasion and apoptosis in lung adenocarcinoma.
Title: OTX1 is a novel regulator of proliferation, migration, invasion and apoptosis in lung adenocarcinoma.
OTX1 exerts an oncogenic role and is negatively regulated by miR129-5p in laryngeal squamous cell carcinoma.
Title: OTX1 exerts an oncogenic role and is negatively regulated by miR129-5p in laryngeal squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (26)

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

Otx1 (e-PCR), detects polymorphism
- UniSTS:164914

Otx1 (e-PCR), detects polymorphism
- UniSTS:144102

Otx1 (e-PCR), detects polymorphism
- UniSTS:507882

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, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
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 anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
involved_in diencephalon morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in inner ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in metencephalon development	IEA Inferred from Electronic Annotation more info
involved_in midbrain development	IEA Inferred from Electronic Annotation more info
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 chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: homeobox protein OTX1

Names: orthodenticle homolog 1

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.