Details for: DAB1

Gene ID: 1600

Symbol: DAB1

Ensembl ID: ENSG00000173406

Description: DAB adaptor protein 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 231.1944
    Cell Significance Index: -95.2400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 17.0704
    Cell Significance Index: -37.3600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 14.8933
    Cell Significance Index: 326.1100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 7.3353
    Cell Significance Index: 493.2300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 7.2307
    Cell Significance Index: 2593.5100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 5.5970
    Cell Significance Index: 159.7200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 5.3359
    Cell Significance Index: 775.6400
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 4.0406
    Cell Significance Index: 52.4000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 3.9461
    Cell Significance Index: 7277.6000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 3.7231
    Cell Significance Index: 5731.6000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 3.0130
    Cell Significance Index: 2083.9100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.9542
    Cell Significance Index: 592.6000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 2.4041
    Cell Significance Index: 41.2000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.9678
    Cell Significance Index: 390.5200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.8976
    Cell Significance Index: 106.4900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.3444
    Cell Significance Index: 50.9100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.9261
    Cell Significance Index: 56.9200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.8519
    Cell Significance Index: 37.6800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.8457
    Cell Significance Index: 21.1400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.7490
    Cell Significance Index: 57.4800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.7434
    Cell Significance Index: 1399.7900
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.7107
    Cell Significance Index: 8.8200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5565
    Cell Significance Index: 502.5000
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.3885
    Cell Significance Index: 2.9800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3442
    Cell Significance Index: 65.5000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.3391
    Cell Significance Index: 461.1000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.2468
    Cell Significance Index: 5.9200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.2447
    Cell Significance Index: 155.3800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2161
    Cell Significance Index: 38.9500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1599
    Cell Significance Index: 72.5800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0929
    Cell Significance Index: 9.1900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0672
    Cell Significance Index: 10.9400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0010
    Cell Significance Index: 0.0500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0060
    Cell Significance Index: -0.2100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0860
    Cell Significance Index: -63.7300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0912
    Cell Significance Index: -9.9200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.1005
    Cell Significance Index: -73.6500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1299
    Cell Significance Index: -6.8200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1380
    Cell Significance Index: -77.8300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1486
    Cell Significance Index: -92.7800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.1493
    Cell Significance Index: -66.0200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.1602
    Cell Significance Index: -87.5000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1708
    Cell Significance Index: -3.7000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2014
    Cell Significance Index: -6.4500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2074
    Cell Significance Index: -2.9700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.2263
    Cell Significance Index: -27.8300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2435
    Cell Significance Index: -70.0700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.2593
    Cell Significance Index: -17.9300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.2825
    Cell Significance Index: -16.9600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.3256
    Cell Significance Index: -14.7600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.3853
    Cell Significance Index: -65.8000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.4202
    Cell Significance Index: -88.5000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.5228
    Cell Significance Index: -11.1000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.5321
    Cell Significance Index: -68.2100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.5588
    Cell Significance Index: -11.0500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.5712
    Cell Significance Index: -24.8400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.6261
    Cell Significance Index: -85.9900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.6268
    Cell Significance Index: -65.2700
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.6471
    Cell Significance Index: -7.0500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.6542
    Cell Significance Index: -84.5200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6604
    Cell Significance Index: -40.4900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.7102
    Cell Significance Index: -83.7600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.7320
    Cell Significance Index: -74.7800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.7320
    Cell Significance Index: -85.3100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.7372
    Cell Significance Index: -21.2400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.7712
    Cell Significance Index: -88.3500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.7833
    Cell Significance Index: -21.8900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.8114
    Cell Significance Index: -16.2900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.9324
    Cell Significance Index: -73.8500
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.9407
    Cell Significance Index: -8.9500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.9426
    Cell Significance Index: -30.8600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.9765
    Cell Significance Index: -69.0600
  • Cell Name: neural cell (CL0002319)
    Fold Change: -1.1160
    Cell Significance Index: -13.0200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -1.1377
    Cell Significance Index: -84.7900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.1671
    Cell Significance Index: -30.0000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -1.2233
    Cell Significance Index: -78.9200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -1.2800
    Cell Significance Index: -66.6800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.3052
    Cell Significance Index: -41.5700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -1.4807
    Cell Significance Index: -13.6400
  • Cell Name: neuron (CL0000540)
    Fold Change: -1.5476
    Cell Significance Index: -14.6700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -1.5509
    Cell Significance Index: -72.8900
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: -1.5661
    Cell Significance Index: -16.5800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -1.6051
    Cell Significance Index: -20.0200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -1.6075
    Cell Significance Index: -34.7300
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -1.7025
    Cell Significance Index: -20.3600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.7327
    Cell Significance Index: -60.7000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -1.7830
    Cell Significance Index: -44.4800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -1.8698
    Cell Significance Index: -87.1800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -1.8873
    Cell Significance Index: -27.8600
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -2.0039
    Cell Significance Index: -63.3800
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -2.0176
    Cell Significance Index: -25.4600
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -2.0640
    Cell Significance Index: -26.0500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -2.0731
    Cell Significance Index: -50.2200
  • Cell Name: intratelencephalic-projecting glutamatergic cortical neuron (CL4023008)
    Fold Change: -2.0912
    Cell Significance Index: -21.5000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -2.0964
    Cell Significance Index: -72.8500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -2.1935
    Cell Significance Index: -80.5200
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -2.2615
    Cell Significance Index: -13.4200
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -2.2922
    Cell Significance Index: -16.6700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -2.3077
    Cell Significance Index: -60.6800
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -2.3197
    Cell Significance Index: -56.6000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** DAB1 is a cytoplasmic adaptor protein that belongs to the Disabled family of proteins. It is characterized by its ability to interact with various signaling molecules, including Reelin, NMDA receptors, and Jak-STAT pathways. DAB1 is predominantly expressed in neurons, particularly in the cerebral cortex, hippocampus, and cerebellum, where it plays a critical role in neuronal development and function. **Pathways and Functions:** DAB1 is involved in several key signaling pathways, including: 1. **Reelin Signaling Pathway:** DAB1 interacts with Reelin, a key protein involved in neuronal migration and axon guidance. This interaction regulates the migration of Purkinje cells and radial glia-guided pyramidal neuron migration. 2. **NMDA Receptor Signaling Pathway:** DAB1 interacts with NMDA receptors, which are essential for synaptic plasticity and learning. This interaction regulates the regulation of NMDA receptor signaling via Jak-STAT pathways. 3. **Axon Guidance and Axonogenesis:** DAB1 is involved in axon guidance and axonogenesis, particularly in the development of the cerebellum and cerebral cortex. 4. **Cell-Cell Adhesion:** DAB1 regulates cell-cell adhesion, particularly in the context of neuronal-glial interactions involved in cerebral cortex radial glia-guided migration. **Clinical Significance:** DAB1 has been implicated in several neurological disorders, including: 1. **Neurodevelopmental Disorders:** Mutations in the DAB1 gene have been associated with neurodevelopmental disorders, such as autism spectrum disorder and schizophrenia. 2. **Stroke and Cerebral Ischemia:** DAB1 has been shown to play a critical role in the regulation of NMDA receptor signaling, which is essential for synaptic plasticity and learning. Dysregulation of DAB1 has been implicated in stroke and cerebral ischemia. 3. **Neurodegenerative Diseases:** DAB1 has been implicated in the pathogenesis of neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. In conclusion, DAB1 is a multifunctional adaptor protein that plays a critical role in various cellular processes, including neuronal development and function. Its dysregulation has been implicated in several neurological disorders, highlighting the importance of further research into the mechanisms underlying DAB1's functions and the potential therapeutic applications of targeting DAB1 in the treatment of neurological disorders. **References:** [Insert references to relevant studies and reviews]

Genular Protein ID: 1425326140

Symbol: DAB1_HUMAN

Name: Disabled homolog 1

UniProtKB Accession Codes:

O75553 A4FU90 B3KTG3 Q4LE59 Q5T6M6 Q5T6M9 Q5T835 Q5T836 Q5T837 Q6NWS9 Q6NWT0 Q6NWT1 Q9NYA8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 12 Ensembl 5 ExpressionAtlas 1 GO 27 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 6 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9790777

Title: Cloning of human DAB1 and mapping to chromosome 1p31-p32.

PubMed ID: 9790777

DOI: 10.1006/geno.1998.5523

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15272003

Title: Serine and threonine phosphorylation of the low density lipoprotein receptor-related protein by protein kinase Calpha regulates endocytosis and association with adaptor molecules.

PubMed ID: 15272003

DOI: 10.1074/jbc.m407592200

PubMed ID: 28686858

Title: A pentanucleotide ATTTC repeat insertion in the non-coding region of DAB1, mapping to SCA37, causes spinocerebellar ataxia.

PubMed ID: 28686858

DOI: 10.1016/j.ajhg.2017.06.007

Sequence Information:

  • Length: 588
  • Mass: 63775
  • Checksum: DAD4024364113AC5
  • Sequence:
    • MSTETELQVA VKTSAKKDSR KKGQDRSEAT LIKRFKGEGV RYKAKLIGID EVSAARGDKL 
CQDSMMKLKG VVAGARSKGE HKQKIFLTIS FGGIKIFDEK TGALQHHHAV HEISYIAKDI 
TDHRAFGYVC GKEGNHRFVA IKTAQAAEPV ILDLRDLFQL IYELKQREEL EKKAQKDKQC 
EQAVYQTILE EDVEDPVYQY IVFEAGHEPI RDPETEENIY QVPTSQKKEG VYDVPKSQPV 
SNGYSFEDFE ERFAAATPNR NLPTDFDEIF EATKAVTQLE LFGDMSTPPD ITSPPTPATP 
GDAFIPSSSQ TLPASADVFS SVPFGTAAVP SGYVAMGAVL PSFWGQQPLV QQQMVMGAQP 
PVAQVMPGAQ PIAWGQPGLF PATQQPWPTV AGQFPPAAFM PTQTVMPLPA AMFQGPLTPL 
ATVPGTSDST RSSPQTDKPR QKMGKETFKD FQMAQPPPVP SRKPDQPSLT CTSEAFSSYF 
NKVGVAQDTD DCDDFDISQL NLTPVTSTTP STNSPPTPAP RQSSPSKSSA SHASDPTTDD 
IFEEGFESPS KSEEQEAPDG SQASSNSDPF GEPSGEPSGD NISPQAGS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.