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OTX1 orthodenticle homeobox 1 [ Homo sapiens (human) ]

Gene ID: 5013, updated on 10-Dec-2019

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
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

Genomic context

See OTX1 in Genome Data Viewer
Location:
2p15
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (63049735..63057831)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (63277192..63284966)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene EH domain binding protein 1 Neighboring gene VISTA enhancer hs690 Neighboring gene uncharacterized LOC100132215 Neighboring gene VISTA enhancer hs1066 Neighboring gene BAR/IMD domain containing adaptor protein 2 like 1 pseudogene Neighboring gene ribosomal protein L27 pseudogene 5

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38361, MGC15736

Gene Ontology Provided by GOA

Process Evidence Code Pubs
anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
diencephalon morphogenesis IEA
Inferred from Electronic Annotation
more info
 
inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
metencephalon development IEA
Inferred from Electronic Annotation
more info
 
midbrain development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 

General protein information

Preferred Names
homeobox protein OTX1
Names
orthodenticle homolog 1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001199770.2NP_001186699.1  homeobox protein OTX1

    See identical proteins and their annotated locations for NP_001186699.1

    Status: REVIEWED

    Source sequence(s)
    AC009501
    Consensus CDS
    CCDS1873.1
    UniProtKB/Swiss-Prot
    P32242
    Related
    ENSP00000355631.3, ENST00000366671.7
    Conserved Domains (2) summary
    pfam00046
    Location:4294
    Homeobox; Homeobox domain
    pfam03529
    Location:178274
    TF_Otx; Otx1 transcription factor
  2. NM_014562.4NP_055377.1  homeobox protein OTX1

    See identical proteins and their annotated locations for NP_055377.1

    Status: REVIEWED

    Source sequence(s)
    AK095680, BU689444
    Consensus CDS
    CCDS1873.1
    UniProtKB/Swiss-Prot
    P32242
    Related
    ENSP00000282549.2, ENST00000282549.7
    Conserved Domains (2) summary
    pfam00046
    Location:4294
    Homeobox; Homeobox domain
    pfam03529
    Location:178274
    TF_Otx; Otx1 transcription factor

RNA

  1. NR_130153.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK095680, AK297308, BP310240, BU689444

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    63049735..63057831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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