ALX3
Homeobox protein aristaless-like 3
Also known as: ALX3_HUMAN, FND
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O95076
- Gene
- ALX3
- Ensembl
- ENSG00000156150
- Chromosome
- 1
- Canonical length
- 343 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoli fibrillar center
OverviewNCBI Gene
This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
343 residues, UniProt reviewed canonical sequence.
>O95076|ALX3
1 MDPEHCAPFR VGPAPGPYVA SGDEPPGPQG TPAAAPHLHP APPRGPRLTR FPACGPLEPY
61 LPEPAKPPAK YLQDLGPGPA LNGGHFYEGP AEAEEKTSKA ASFPQLPLDC RGGPRDGPSN
121 LQGSPGPCLA SLHLPLSPGL PDSMELAKNK SKKRRNRTTF STFQLEELEK VFQKTHYPDV
181 YAREQLALRT DLTEARVQVW FQNRRAKWRK RERYGKIQEG RNPFTAAYDI SVLPRTDSHP
241 QLQNSLWASP GSGSPGGPCL VSPEGIPSPC MSPYSHPHGS VAGFMGVPAP SAAHPGIYSI
301 HGFPPTLGGH SFEPSSDGDY KSPSLVSLRV KPKEPPGLLN WTTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ALX3 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)
- 0.67
- Highest tissue expression
- 6.8 nTPM
Expression across tissuesHPA
Tissue
- skin: 6.8 nTPM
- retina: 5.1 nTPM
- skeletal muscle: 2.9 nTPM
- choroid plexus: 2.7 nTPM
- lymph node: 2.7 nTPM
- small intestine: 2.7 nTPM
Single-cell type
- oocytes: 14 nCPM
- epicardial cells: 14 nCPM
- cardiomyocytes: 10 nCPM
- pericytes: 3.3 nCPM
- fibroblasts: 2.5 nCPM
- rod photoreceptor cells: 2.5 nCPM
Immune cell
- naive CD8 T-cell: 0.4 nTPM
- basophil: 0.2 nTPM
- eosinophil: 0.2 nTPM
- memory CD4 T-cell: 0.2 nTPM
- MAIT T-cell: 0.1 nTPM
- memory CD8 T-cell: 0.1 nTPM
Brain region
- medulla oblongata: 8.6 nTPM
- pons: 8.3 nTPM
- choroid plexus: 7.5 nTPM
- thalamus: 7.3 nTPM
- cerebral cortex: 6.8 nTPM
- basal ganglia: 6.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ALX3.
Disease | AllUniProt
Conditions ALX3 is implicated in, by any mechanism.
- Frontonasal dysplasia 1 (FND1) MIM:136760
Disease | GeneticClinVar
10 pathogenic / likely-pathogenic of 99 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Frontorhiny
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)
- 1.03
- gnomAD pLI
- 0.02
- gnomAD missense Z
- 0.45
- DepMap mean gene effect
- -0.21
- DepMap dependency class
- selective
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
- embryonic forelimb morphogenesis
- embryonic hindlimb morphogenesis
- embryonic skeletal system morphogenesis
- neuron development
- pattern specification process
- regulation of apoptotic process
- regulation of transcription by RNA polymerase II
Molecular functions
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ALX3 as an antibody target. Whether an autoantibody or antibody against ALX3 could matter depends on whether native ALX3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ALX3 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 ALX3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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