Seroatlas · Human Serome Atlas

GBX1

Homeobox protein GBX-1

Also known as: GBX1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q14549
Gene: GBX1
Ensembl: ENSG00000164900
Chromosome: 7
Canonical length: 363 aa
Protein class: Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

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 located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

363 residues, UniProt reviewed canonical sequence.

>Q14549|GBX1
     1  MQRAGGGSAP GGNGGGGGGG PGTAFSIDSL IGPPPPRSGH LLYTGYPMFM PYRPLVLPQA
    61  LAPAPLPAGL PPLAPLASFA GRLTNTFCAG LGQAVPSMVA LTTALPSFAE PPDAFYGPQE
   121  LAAAAAAAAA TAARNNPEPG GRRPEGGLEA DELLPAREKV AEPPPPPPPH FSETFPSLPA
   181  EGKVYSSDEE KLEASAGDPA GSEQEEEGSG GDSEDDGFLD SSAGGPGALL GPKPKLKGSL
   241  GTGAEEGAPV TAGVTAPGGK SRRRRTAFTS EQLLELEKEF HCKKYLSLTE RSQIAHALKL
   301  SEVQVKIWFQ NRRAKWKRIK AGNVSSRSGE PVRNPKIVVP IPVHVNRFAV RSQHQQMEQG
   361  ARP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GBX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.68
Highest tissue expression: 11 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 11 nTPM
testis: 7.6 nTPM
tongue: 1 nTPM
heart muscle: 0.8 nTPM
basal ganglia: 0.1 nTPM
hypothalamus: 0.1 nTPM

Single-cell type

myonuclei: 290 nCPM
early primary spermatocytes: 135 nCPM
differentiating spermatogonia: 27 nCPM
cardiomyocytes: 22 nCPM
late primary spermatocytes: 21 nCPM
epicardial cells: 9.1 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

spinal cord: 2.4 nTPM
medulla oblongata: 2 nTPM
cerebral cortex: 1.9 nTPM
hypothalamus: 1.7 nTPM
hippocampal formation: 0.8 nTPM
basal ganglia: 0.7 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.67
gnomAD pLI: 0.41
gnomAD missense Z: 0.82
DepMap mean gene effect: 0.04
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GBX1 as an antibody target. Whether an autoantibody or antibody against GBX1 could matter depends on whether native GBX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GBX1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GBX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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