DAB1
Disabled homolog 1
Also known as: DAB1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75553
- Gene
- DAB1
- Ensembl
- ENSG00000173406
- Chromosome
- 1
- Canonical length
- 588 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Vesicles
OverviewNCBI Gene
The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain. [provided by RefSeq, Jan 2017]
Canonical amino-acid sequenceUniProt
588 residues, UniProt reviewed canonical sequence.
>O75553|DAB1
1 MSTETELQVA VKTSAKKDSR KKGQDRSEAT LIKRFKGEGV RYKAKLIGID EVSAARGDKL
61 CQDSMMKLKG VVAGARSKGE HKQKIFLTIS FGGIKIFDEK TGALQHHHAV HEISYIAKDI
121 TDHRAFGYVC GKEGNHRFVA IKTAQAAEPV ILDLRDLFQL IYELKQREEL EKKAQKDKQC
181 EQAVYQTILE EDVEDPVYQY IVFEAGHEPI RDPETEENIY QVPTSQKKEG VYDVPKSQPV
241 SNGYSFEDFE ERFAAATPNR NLPTDFDEIF EATKAVTQLE LFGDMSTPPD ITSPPTPATP
301 GDAFIPSSSQ TLPASADVFS SVPFGTAAVP SGYVAMGAVL PSFWGQQPLV QQQMVMGAQP
361 PVAQVMPGAQ PIAWGQPGLF PATQQPWPTV AGQFPPAAFM PTQTVMPLPA AMFQGPLTPL
421 ATVPGTSDST RSSPQTDKPR QKMGKETFKD FQMAQPPPVP SRKPDQPSLT CTSEAFSSYF
481 NKVGVAQDTD DCDDFDISQL NLTPVTSTTP STNSPPTPAP RQSSPSKSSA SHASDPTTDD
541 IFEEGFESPS KSEEQEAPDG SQASSNSDPF GEPSGEPSGD NISPQAGSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DAB1 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)
- 0.61
- Highest tissue expression
- 21 nTPM
Expression across tissuesHPA
Tissue
- small intestine: 21 nTPM
- cerebellum: 15 nTPM
- duodenum: 15 nTPM
- seminal vesicle: 9.4 nTPM
- liver: 7.2 nTPM
- hippocampal formation: 6.8 nTPM
Single-cell type
- brain excitatory neurons: 1,265 nCPM
- retinal horizontal cells: 1,240 nCPM
- oligodendrocyte progenitor cells: 1,218 nCPM
- retinal bipolar cells: 968 nCPM
- brain inhibitory neurons: 682 nCPM
- other brain neurons: 668 nCPM
Immune cell
- MAIT T-cell: 2.1 nTPM
- memory CD4 T-cell: 0.7 nTPM
- eosinophil: 0.6 nTPM
- T-reg: 0.3 nTPM
- gdT-cell: 0.1 nTPM
- memory CD8 T-cell: 0.1 nTPM
Brain region
- cerebellum: 37 nTPM
- hippocampal formation: 25 nTPM
- cerebral cortex: 20 nTPM
- hypothalamus: 14 nTPM
- basal ganglia: 13 nTPM
- amygdala: 11 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DAB1.
Disease | AllUniProt
Conditions DAB1 is implicated in, by any mechanism.
- Spinocerebellar ataxia 37 (SCA37) MIM:615945
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 156 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
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)
- 0.22
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.52
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adult walking behavior
- astrocyte differentiation
- axonogenesis
- cell surface receptor signaling pathway via JAK-STAT
- central nervous system neuron differentiation
- cerebellum structural organization
- dendrite development
- Golgi localization
- hippocampus development
- lateral motor column neuron migration
- layer formation in cerebral cortex
- negative regulation of astrocyte differentiation
- negative regulation of axonogenesis
- negative regulation of cell adhesion
- negative regulation of receptor signaling pathway via JAK-STAT
- neuron migration
- positive regulation of neuron differentiation
- radial glia guided migration of Purkinje cell
- radial glia-guided pyramidal neuron migration
- reelin-mediated signaling pathway
- regulation of synapse maturation
- small GTPase-mediated signal transduction
- ventral spinal cord development
- cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DAB1 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 DAB1 as an antibody target. Whether an autoantibody or antibody against DAB1 could matter depends on whether native DAB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DAB1 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 DAB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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