UniProtKB - O75553 (DAB1_HUMAN)
Disabled homolog 1
DAB1
Functioni
Adapter molecule functioning in neural development. May regulate SIAH1 activity.
By similarityGO - Biological processi
- adult walking behavior Source: Ensembl
- cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration Source: Ensembl
- cerebellum structural organization Source: Ensembl
- dendrite development Source: Ensembl
- Golgi localization Source: Ensembl
- hippocampus development Source: Ensembl
- lateral motor column neuron migration Source: GO_Central
- negative regulation of astrocyte differentiation Source: Ensembl
- negative regulation of axonogenesis Source: Ensembl
- negative regulation of cell adhesion Source: Ensembl
- negative regulation of receptor signaling pathway via JAK-STAT Source: Ensembl
- positive regulation of neuron differentiation Source: Ensembl
- positive regulation of protein kinase activity Source: Ensembl
- radial glia guided migration of Purkinje cell Source: Ensembl
- small GTPase mediated signal transduction Source: Ensembl
- ventral spinal cord development Source: GO_Central
Keywordsi
Molecular function | Developmental protein |
Biological process | Differentiation, Neurogenesis |
Enzyme and pathway databases
PathwayCommonsi | O75553 |
Reactomei | R-HSA-8866376, Reelin signalling pathway |
SignaLinki | O75553 |
SIGNORi | O75553 |
Names & Taxonomyi
Protein namesi | Recommended name: Disabled homolog 1 |
Gene namesi | Name:DAB1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2661, DAB1 |
MIMi | 603448, gene |
neXtProti | NX_O75553 |
VEuPathDBi | HostDB:ENSG00000173406 |
Subcellular locationi
Cytosol
- cytosol Source: Reactome
Other locations
- cytoplasm Source: GO_Central
- intracellular membrane-bounded organelle Source: HPA
- perinuclear region of cytoplasm Source: Ensembl
Pathology & Biotechi
Involvement in diseasei
Spinocerebellar ataxia 37 (SCA37)1 Publication
Keywords - Diseasei
Neurodegeneration, Spinocerebellar ataxiaOrganism-specific databases
DisGeNETi | 1600 |
GeneReviewsi | DAB1 |
MalaCardsi | DAB1 |
MIMi | 615945, phenotype |
OpenTargetsi | ENSG00000173406 |
Orphaneti | 363710, Spinocerebellar ataxia type 37 |
PharmGKBi | PA27131 |
Miscellaneous databases
Pharosi | O75553, Tbio |
Genetic variation databases
BioMutai | DAB1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000079767 | 1 – 588 | Disabled homolog 1Add BLAST | 588 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 198 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 220 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 232 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 524 | Phosphoserine; by CDK5By similarity | 1 |
Post-translational modificationi
Keywords - PTMi
PhosphoproteinProteomic databases
MassIVEi | O75553 |
PeptideAtlasi | O75553 |
PRIDEi | O75553 |
ProteomicsDBi | 50077 [O75553-1] 50078 [O75553-2] 50079 [O75553-3] 50080 [O75553-4] 50081 [O75553-5] 50082 [O75553-6] |
PTM databases
iPTMneti | O75553 |
PhosphoSitePlusi | O75553 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000173406, Expressed in cortical plate and 140 other tissues |
ExpressionAtlasi | O75553, baseline and differential |
Genevisiblei | O75553, HS |
Organism-specific databases
HPAi | ENSG00000173406, Tissue enhanced (brain, intestine, seminal vesicle) |
Interactioni
Subunit structurei
Associates with the SH2 domains of SRC, FYN and ABL (By similarity).
Interacts (phosphorylated on tyrosine residues) with CRK and CRKL (via respective SH2 domain) (By similarity).
Interacts with SIAH1, LRP8 and VLDLR (By similarity).
Interacts with LRP1 (PubMed:15272003).
Interacts with APLP1 (via NPXY motif) (By similarity).
Interacts with DAB2IP (By similarity).
By similarity1 PublicationBinary interactionsi
O75553
Isoform DAB537 [O75553-4]
With | #Exp. | IntAct |
---|---|---|
APP [P05067] | 3 | EBI-21246842,EBI-77613 |
Isoform DAB553 [O75553-5]
With | #Exp. | IntAct |
---|---|---|
PIN1 [Q13526] | 3 | EBI-12133006,EBI-714158 |
S100B [P04271] | 3 | EBI-12133006,EBI-458391 |
Protein-protein interaction databases
BioGRIDi | 107970, 79 interactors |
ELMi | O75553 |
IntActi | O75553, 58 interactors |
MINTi | O75553 |
STRINGi | 9606.ENSP00000360280 |
Miscellaneous databases
RNActi | O75553, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 36 – 189 | PIDPROSITE-ProRule annotationAdd BLAST | 154 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 26 | DisorderedSequence analysisAdd BLAST | 26 | |
Regioni | 417 – 443 | DisorderedSequence analysisAdd BLAST | 27 | |
Regioni | 451 – 470 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 502 – 588 | DisorderedSequence analysisAdd BLAST | 87 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 11 – 26 | Basic and acidic residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 420 – 437 | Polar residuesSequence analysisAdd BLAST | 18 | |
Compositional biasi | 555 – 588 | Polar residuesSequence analysisAdd BLAST | 34 |
Domaini
Phylogenomic databases
eggNOGi | KOG3535, Eukaryota |
GeneTreei | ENSGT00940000158038 |
HOGENOMi | CLU_020747_2_0_1 |
InParanoidi | O75553 |
OMAi | FDEKTGX |
OrthoDBi | 279276at2759 |
PhylomeDBi | O75553 |
TreeFami | TF316724 |
Family and domain databases
Gene3Di | 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR011993, PH-like_dom_sf IPR006020, PTB/PI_dom |
Pfami | View protein in Pfam PF00640, PID, 1 hit |
SMARTi | View protein in SMART SM00462, PTB, 1 hit |
PROSITEi | View protein in PROSITE PS01179, PID, 1 hit |
s (6+)i Sequence
Sequence statusi: Complete.
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 6 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSTETELQVA VKTSAKKDSR KKGQDRSEAT LIKRFKGEGV RYKAKLIGID
60 70 80 90 100
EVSAARGDKL CQDSMMKLKG VVAGARSKGE HKQKIFLTIS FGGIKIFDEK
110 120 130 140 150
TGALQHHHAV HEISYIAKDI TDHRAFGYVC GKEGNHRFVA IKTAQAAEPV
160 170 180 190 200
ILDLRDLFQL IYELKQREEL EKKAQKDKQC EQAVYQTILE EDVEDPVYQY
210 220 230 240 250
IVFEAGHEPI RDPETEENIY QVPTSQKKEG VYDVPKSQPV SNGYSFEDFE
260 270 280 290 300
ERFAAATPNR NLPTDFDEIF EATKAVTQLE LFGDMSTPPD ITSPPTPATP
310 320 330 340 350
GDAFIPSSSQ TLPASADVFS SVPFGTAAVP SGYVAMGAVL PSFWGQQPLV
360 370 380 390 400
QQQMVMGAQP PVAQVMPGAQ PIAWGQPGLF PATQQPWPTV AGQFPPAAFM
410 420 430 440 450
PTQTVMPLPA AMFQGPLTPL ATVPGTSDST RSSPQTDKPR QKMGKETFKD
460 470 480 490 500
FQMAQPPPVP SRKPDQPSLT CTSEAFSSYF NKVGVAQDTD DCDDFDISQL
510 520 530 540 550
NLTPVTSTTP STNSPPTPAP RQSSPSKSSA SHASDPTTDD IFEEGFESPS
560 570 580
KSEEQEAPDG SQASSNSDPF GEPSGEPSGD NISPQAGS
The sequence of this isoform differs from the canonical sequence as follows:
200-213: YIVFEAGHEPIRDP → VISETSRGFRFKSD
214-588: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
103-221: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
185-219: Missing.
259-274: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
185-219: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
242-274: Missing.
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketX6R4J9 | X6R4J9_HUMAN | Disabled homolog 1 | DAB1 | 204 | Annotation score: | ||
A0A075B6G7 | A0A075B6G7_HUMAN | Disabled homolog 1 | DAB1 | 239 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 15 | A → T in AAI12939 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 59 | K → M in AAH67447 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 86 | F → L in AAF73058 (Ref. 2) Curated | 1 | |
Sequence conflicti | 295 | P → S in AAH67447 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 324 | F → L in AAC70068 (PubMed:9790777).Curated | 1 | |
Sequence conflicti | 331 | S → P in AAC70068 (PubMed:9790777).Curated | 1 | |
Sequence conflicti | 359 | Q → H in AAC70068 (PubMed:9790777).Curated | 1 | |
Sequence conflicti | 368 | G → R in AAF73058 (Ref. 2) Curated | 1 | |
Sequence conflicti | 412 | M → V in AAF73058 (Ref. 2) Curated | 1 | |
Sequence conflicti | 586 | A → D in AAC70068 (PubMed:9790777).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_056857 | 71 | V → I. Corresponds to variant dbSNP:rs1855377EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_026166 | 103 – 221 | Missing in isoform DAB469. 1 PublicationAdd BLAST | 119 | |
Alternative sequenceiVSP_026167 | 185 – 219 | Missing in isoform DAB553 and isoform DAB537. 1 PublicationAdd BLAST | 35 | |
Alternative sequenceiVSP_026168 | 200 – 213 | YIVFE…PIRDP → VISETSRGFRFKSD in isoform DAB213. CuratedAdd BLAST | 14 | |
Alternative sequenceiVSP_026169 | 214 – 588 | Missing in isoform DAB213. CuratedAdd BLAST | 375 | |
Alternative sequenceiVSP_026170 | 242 – 274 | Missing in isoform DAB555. 3 PublicationsAdd BLAST | 33 | |
Alternative sequenceiVSP_026171 | 259 – 274 | Missing in isoform DAB537. 1 PublicationAdd BLAST | 16 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF071062 mRNA Translation: AAC70068.1 AF263547 mRNA Translation: AAF73058.1 AL139219 Genomic DNA No translation available. AL161740 Genomic DNA No translation available. AL354883 Genomic DNA No translation available. AK095513 mRNA Translation: BAG53075.1 AB210012 mRNA Translation: BAE06094.1 Different initiation. CH471059 Genomic DNA Translation: EAX06637.1 BC067445 mRNA Translation: AAH67445.1 BC067446 mRNA Translation: AAH67446.1 BC067447 mRNA Translation: AAH67447.1 BC112938 mRNA Translation: AAI12939.1 |
CCDSi | CCDS607.1 [O75553-6] |
RefSeqi | NP_066566.3, NM_021080.3 [O75553-6] |
Genome annotation databases
Ensembli | ENST00000371230; ENSP00000360274; ENSG00000173406 [O75553-2] ENST00000371231; ENSP00000360275; ENSG00000173406 ENST00000371236; ENSP00000360280; ENSG00000173406 [O75553-6] ENST00000414851; ENSP00000387581; ENSG00000173406 [O75553-6] ENST00000420954; ENSP00000395296; ENSG00000173406 [O75553-5] |
GeneIDi | 1600 |
KEGGi | hsa:1600 |
MANE-Selecti | ENST00000371236.7; ENSP00000360280.1; NM_001365792.1; NP_001352721.1 [O75553-6] |
UCSCi | uc001cyq.2, human [O75553-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF071062 mRNA Translation: AAC70068.1 AF263547 mRNA Translation: AAF73058.1 AL139219 Genomic DNA No translation available. AL161740 Genomic DNA No translation available. AL354883 Genomic DNA No translation available. AK095513 mRNA Translation: BAG53075.1 AB210012 mRNA Translation: BAE06094.1 Different initiation. CH471059 Genomic DNA Translation: EAX06637.1 BC067445 mRNA Translation: AAH67445.1 BC067446 mRNA Translation: AAH67446.1 BC067447 mRNA Translation: AAH67447.1 BC112938 mRNA Translation: AAI12939.1 |
CCDSi | CCDS607.1 [O75553-6] |
RefSeqi | NP_066566.3, NM_021080.3 [O75553-6] |
3D structure databases
SMRi | O75553 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107970, 79 interactors |
ELMi | O75553 |
IntActi | O75553, 58 interactors |
MINTi | O75553 |
STRINGi | 9606.ENSP00000360280 |
PTM databases
iPTMneti | O75553 |
PhosphoSitePlusi | O75553 |
Genetic variation databases
BioMutai | DAB1 |
Proteomic databases
MassIVEi | O75553 |
PeptideAtlasi | O75553 |
PRIDEi | O75553 |
ProteomicsDBi | 50077 [O75553-1] 50078 [O75553-2] 50079 [O75553-3] 50080 [O75553-4] 50081 [O75553-5] 50082 [O75553-6] |
Protocols and materials databases
Antibodypediai | 19377, 520 antibodies from 35 providers |
DNASUi | 1600 |
Genome annotation databases
Ensembli | ENST00000371230; ENSP00000360274; ENSG00000173406 [O75553-2] ENST00000371231; ENSP00000360275; ENSG00000173406 ENST00000371236; ENSP00000360280; ENSG00000173406 [O75553-6] ENST00000414851; ENSP00000387581; ENSG00000173406 [O75553-6] ENST00000420954; ENSP00000395296; ENSG00000173406 [O75553-5] |
GeneIDi | 1600 |
KEGGi | hsa:1600 |
MANE-Selecti | ENST00000371236.7; ENSP00000360280.1; NM_001365792.1; NP_001352721.1 [O75553-6] |
UCSCi | uc001cyq.2, human [O75553-1] |
Organism-specific databases
CTDi | 1600 |
DisGeNETi | 1600 |
GeneCardsi | DAB1 |
GeneReviewsi | DAB1 |
HGNCi | HGNC:2661, DAB1 |
HPAi | ENSG00000173406, Tissue enhanced (brain, intestine, seminal vesicle) |
MalaCardsi | DAB1 |
MIMi | 603448, gene 615945, phenotype |
neXtProti | NX_O75553 |
OpenTargetsi | ENSG00000173406 |
Orphaneti | 363710, Spinocerebellar ataxia type 37 |
PharmGKBi | PA27131 |
VEuPathDBi | HostDB:ENSG00000173406 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3535, Eukaryota |
GeneTreei | ENSGT00940000158038 |
HOGENOMi | CLU_020747_2_0_1 |
InParanoidi | O75553 |
OMAi | FDEKTGX |
OrthoDBi | 279276at2759 |
PhylomeDBi | O75553 |
TreeFami | TF316724 |
Enzyme and pathway databases
PathwayCommonsi | O75553 |
Reactomei | R-HSA-8866376, Reelin signalling pathway |
SignaLinki | O75553 |
SIGNORi | O75553 |
Miscellaneous databases
BioGRID-ORCSi | 1600, 4 hits in 1031 CRISPR screens |
ChiTaRSi | DAB1, human |
GeneWikii | DAB1 |
GenomeRNAii | 1600 |
Pharosi | O75553, Tbio |
PROi | PR:O75553 |
RNActi | O75553, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000173406, Expressed in cortical plate and 140 other tissues |
ExpressionAtlasi | O75553, baseline and differential |
Genevisiblei | O75553, HS |
Family and domain databases
Gene3Di | 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR011993, PH-like_dom_sf IPR006020, PTB/PI_dom |
Pfami | View protein in Pfam PF00640, PID, 1 hit |
SMARTi | View protein in SMART SM00462, PTB, 1 hit |
PROSITEi | View protein in PROSITE PS01179, PID, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | DAB1_HUMAN | |
Accessioni | O75553Primary (citable) accession number: O75553 Secondary accession number(s): A4FU90 Q9NYA8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 11, 2002 |
Last sequence update: | June 26, 2007 | |
Last modified: | February 23, 2022 | |
This is version 174 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot