Format

Send to:

Choose Destination

GBX1 gastrulation brain homeobox 1 [ Homo sapiens (human) ]

Gene ID: 2636, updated on 13-Mar-2020

Summary

Official Symbol
GBX1provided by HGNC
Official Full Name
gastrulation brain homeobox 1provided by HGNC
Primary source
HGNC:HGNC:4185
See related
Ensembl:ENSG00000164900 MIM:603354
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
Huh-17
Expression
Restricted expression toward testis (RPKM 2.3) See more
Orthologs

Genomic context

See GBX1 in Genome Data Viewer
Location:
7q36.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (151148589..151167548, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150845676..150864867, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986862 Neighboring gene transmembrane and ubiquitin like domain containing 1 Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 Neighboring gene Sharpr-MPRA regulatory region 15220 Neighboring gene ankyrin repeat and SOCS box containing 10

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

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
adult walking behavior IEA
Inferred from Electronic Annotation
more info
 
cerebellum development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hindbrain development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron fate commitment IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
proprioception IEA
Inferred from Electronic Annotation
more info
 
regulation of nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sensory neuron axon guidance IEA
Inferred from Electronic Annotation
more info
 
spinal cord motor neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
homeobox protein GBX-1
Names
gastrulation and brain-specific homeobox protein 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_001098834.2NP_001092304.1  homeobox protein GBX-1

    See identical proteins and their annotated locations for NP_001092304.1

    Status: VALIDATED

    Source sequence(s)
    AC010973
    Consensus CDS
    CCDS43682.1
    UniProtKB/Swiss-Prot
    Q14549
    Related
    ENSP00000297537.4, ENST00000297537.4
    Conserved Domains (1) summary
    pfam00046
    Location:264317
    Homeobox; Homeobox domain

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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    151148589..151167548 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center