ALX1
ALX homeobox protein 1
Also known as: ALX1_HUMAN, CART1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q15699
- Gene
- ALX1
- Ensembl
- ENSG00000180318
- Chromosome
- 12
- Canonical length
- 326 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nuclear bodies,Golgi apparatus
- Quaternary structure
- Homodimer
OverviewNCBI Gene
The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
326 residues, UniProt reviewed canonical sequence.
>Q15699|ALX1
1 MEFLSEKFAL KSPPSKNSDF YMGAGGPLEH VMETLDNESF YSKASAGKCV QAFGPLPRAE
61 HHVRLERTSP CQDSSVNYGI TKVEGQPLHT ELNRAMDNCN SLRMSPVKGM QEKGELDELG
121 DKCDSNVSSS KKRRHRTTFT SLQLEELEKV FQKTHYPDVY VREQLALRTE LTEARVQVWF
181 QNRRAKWRKR ERYGQIQQAK SHFAATYDIS VLPRTDSYPQ IQNNLWAGNA SGGSVVTSCM
241 LPRDTSSCMT PYSHSPRTDS SYTGFSNHQN QFSHVPLNNF FTDSLLTGAT NGHAFETKPE
301 FERRSSSIAV LRMKAKEHTA NISWAMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ALX1 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)
- 0.63
- Highest tissue expression
- 7.1 nTPM
Expression across tissuesHPA
Tissue
- kidney: 7.1 nTPM
- epididymis: 3.7 nTPM
- fallopian tube: 2.6 nTPM
- salivary gland: 1.9 nTPM
- skin: 1.5 nTPM
- cervix: 0.8 nTPM
Single-cell type
- melanocytes: 113 nCPM
- fibroblasts: 8.2 nCPM
- early spermatids: 6.4 nCPM
- late primary spermatocytes: 2.7 nCPM
- epicardial cells: 2.3 nCPM
- late spermatids: 2.3 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
- choroid plexus: 0.5 nTPM
- hypothalamus: 0.3 nTPM
- amygdala: 0.1 nTPM
- cerebral cortex: 0.1 nTPM
- hippocampal formation: 0.1 nTPM
- medulla oblongata: 0.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ALX1.
Disease | AllUniProt
Conditions ALX1 is implicated in, by any mechanism.
- Frontonasal dysplasia 3 (FND3) MIM:613456
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 68 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
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)
- 0.61
- gnomAD pLI
- 0.18
- gnomAD missense Z
- 0.1
- DepMap mean gene effect
- 0.05
- 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
- anterior/posterior pattern specification
- embryonic limb morphogenesis
- embryonic skeletal system morphogenesis
- mesenchymal cell development
- negative regulation of DNA-templated transcription
- negative regulation of transcription by RNA polymerase II
- neural tube closure
- neuron development
- positive regulation of DNA-templated transcription
- positive regulation of epithelial to mesenchymal transition
- positive regulation of transcription by RNA polymerase II
- roof of mouth development
- stem cell development
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- 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
InteractionsUniProt · HPA
Protein binding partners of ALX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ALX1 as an antibody target. Whether an autoantibody or antibody against ALX1 could matter depends on whether native ALX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ALX1 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 ALX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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