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GSX1 GS homeobox 1 [ Homo sapiens (human) ]

Gene ID: 219409, updated on 11-Jun-2021

Summary

Official Symbol
GSX1provided by HGNC
Official Full Name
GS homeobox 1provided by HGNC
Primary source
HGNC:HGNC:20374
See related
Ensembl:ENSG00000169840 MIM:616542
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
GSH1; Gsh-1
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See GSX1 in Genome Data Viewer
Location:
13q12.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (27792483..27794768)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (28366620..28368905)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370129 Neighboring gene VISTA enhancer hs1568 Neighboring gene VISTA enhancer hs532 Neighboring gene RNA, U6 small nuclear 73, pseudogene Neighboring gene PDX1 associated lncRNA, upregulator of transcription

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

Phenotypes

Associated conditions

Description Tests
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
GeneReviews: Not available
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
GeneReviews: Not available
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in adenohypophysis development IEA
Inferred from Electronic Annotation
more info
 
involved_in central nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in hypothalamus development IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neuron fate commitment IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within 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
PubMed 
involved_in spinal cord association neuron differentiation IEA
Inferred from Electronic Annotation
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
PubMed 

General protein information

Preferred Names
GS homeobox 1
Names
GS homeo box protein 1
genomic screened homeo box 1
homeobox protein Gsh-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.

mRNA and Protein(s)

  1. NM_145657.3NP_663632.1  GS homeobox 1

    See identical proteins and their annotated locations for NP_663632.1

    Status: VALIDATED

    Source sequence(s)
    AB044157, AL390738
    Consensus CDS
    CCDS9326.1
    UniProtKB/Swiss-Prot
    Q9H4S2
    Related
    ENSP00000304331.2, ENST00000302945.3
    Conserved Domains (1) summary
    pfam00046
    Location:151204
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    27792483..27794768
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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