1. Gene
  2. GBX1 - gastrulation brain homeobox 1 Gene

GBX1 - gastrulation brain homeobox 1 Gene

Homo sapiens

Also known as Huh-17

Gene ID: 2636 | Gene type: protein coding

About GBX1

Cytogenetic location: 7q36.1 Genomic coordinates (GRCh38): 7:151,148,009-151,167,694 (from NCBI)

This gene has 2 transcripts (splice variants), 188 orthologues and 1 paralogue. Restricted expression toward testis (RPKM 2.3).

Summary

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of nervous system development and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within adult walking behavior; neuron differentiation; and proprioception. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

GBX1 Products(1)

mRNA Protein Name
NM_001098834.3 NP_001092304.1 homeobox protein GBX-1

GBX1 Protein Structure

Homeobox

Homeobox: Homeobox domain (262 - 318)

  • 0
  • 100
  • 200
  • 300
  • 363 a.a.
Protein Preferred Names Protein Names

homeobox protein GBX-1

gastrulation and brain-specific homeobox protein 1

Related Diseases

Diseases Alias
Currarino Syndrome

Currarino Triad

Partial Sacral Agenesis With Intact First Sacral Vertebra, Presacral Mass And Anorectal Malformation

CURRAS

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta GBX1 VGNC VGNC:108408
Bos taurus GBX1 VGNC VGNC:53645
Mus musculus GBX1 MGD MGI:95667
Felis catus GBX1 VGNC VGNC:62484
Rattus norvegicus GBX1 RGD RGD:621864