OTX1 - orthodenticle homeobox 1 Gene

Homo sapiens

Gene ID: 5013 | Gene type: protein coding

About OTX1

Cytogenetic location: 2p15 Genomic coordinates (GRCh38): 2:63,049,735-63,057,831 (from NCBI)

This gene has 6 transcripts (splice variants), 197 orthologues and 50 paralogues. Biased expression in skin (RPKM 2.2), prostate (RPKM 0.7) and 5 other tissues.

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]

OTX1 Products(2)

mRNA	Protein	Name
NM_001199770.2	NP_001186699.1	homeobox protein OTX1
NM_014562.4	NP_055377.1	homeobox protein OTX1

OTX1 Protein Structure

Homeobox

TF_Otx

0
100
200
300
354 a.a.

Protein Preferred Names

Protein Names

homeobox protein OTX1

orthodenticle homolog 1

Related Diseases

Diseases

Alias

Agnathia-Otocephaly Complex

Otocephaly	Holoprosencephaly-Agnathia
Dysgnathia Complex Agnathia-Holoprosencephaly	AGOTC
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Dysgnathia Complex
Agnathia-Holoprosencephaly	Cervical Auricle

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Dyslexia

Achromatopsia 7

ACHM7

Achromatopsia, Type 7

Medulloblastoma

MDB	Cpnet
Localized Primitive Neuroectodermal Tumor	Classic Medulloblastoma
Medulloblastoma Predisposition Syndrome	Medulloblastoma, Somatic
Brain Medulloblastoma	Cns Pnet
Infratentorial Primitive Neuroectodermal Tumor	Neuroectodermal Tumors, Primitive
Medulloblastomas	Desmoplastic Medulloblastoma
Medulloblastoma, With Extensive Nodularity	Medulloblastoma Of Unspecified Site
Medullomyoblastoma Of Unspecified Site

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09879	OTX1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	OTX1	VGNC	VGNC:44193
Rattus norvegicus	OTX1	RGD	RGD:3237
Mus musculus	OTX1	MGD	MGI:97450
Bos taurus	OTX1	VGNC	VGNC:32502
Macaca mulatta	OTX1	VGNC	VGNC:75726