O75553A4FU90B3KTG3Q4LE59Q5T6M6Q5T6M9Q5T835Q5T836Q5T837Q6NWS9Q6NWT0Q6NWT1Q9NYA8DAB1_HUMANDisabled homolog 1DAB1Homo sapiensHumanEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomoCloning of human DAB1 and mapping to chromosome 1p31-p32.NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM DAB555)Aberrant disabled-1 expression in tumors.NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM DAB555)The DNA sequence and biological annotation of human chromosome 1.NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]ALTERNATIVE SPLICINGNUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]Complete sequencing and characterization of 21,243 full-length human cDNAs.NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM DAB555)The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS DAB469; DAB537 AND DAB553)Serine and threonine phosphorylation of the low density lipoprotein receptor-related protein by protein kinase Calpha regulates endocytosis and association with adaptor molecules.INTERACTION WITH LRP1A pentanucleotide ATTTC repeat insertion in the non-coding region of DAB1, mapping to SCA37, causes spinocerebellar ataxia.INVOLVEMENT IN SCA37TISSUE SPECIFICITYAdapter molecule functioning in neural development. May regulate SIAH1 activity.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).O75553O14503false3O75553Q6P1W5false3O75553Q8N365false3O75553Q15038false3O75553Q92567false3O75553A0A024R5S0false3O75553Q6NT76false3O75553Q8WVV9false3O75553O43820false3O75553Q3LI72false3O75553Q3SYF9false3O75553Q8IUC2false3O75553Q3B8N2false3O75553Q6DKI2false3O75553Q8TBB1false5O75553Q9Y5V3false3O75553Q86VM6false3O75553Q9NR56false4O75553Q9NUK0false3O75553Q96HR8false3O75553Q96HA8false3O75553Q13526false3O75553Q7Z3K3false3O75553Q13427false3O75553P86479false3O75553Q9BTL3false3O75553O43251false3O75553Q9BQY4false3O75553A1L4F5false3O75553O00241-2false3O75553Q8WU79false3O75553P14678-2false3O75553Q96SI9false3O75553Q15560false3O75553Q86VL0false3O75553Q8N8B7false3O75553Q6ZXV5false3O75553Q6FIE9false3O75553Q9H0E2false3O75553O95231false4O75553A0A0C4DGF1false3O75553Q96K80false3O75553Q8TBK6false3O75553Q96MN9false3O75553Q9H9I0false3O75553-4P05067false3O75553-5Q13526false3O75553-5P04271false3O75553-1DAB588O75553-2DAB213O75553-3DAB469O75553-4DAB537O75553-5DAB553O75553-6DAB555Mainly expressed in brain.The PID domain specifically binds to the Asn-Pro-Xaa-Tyr(P) motif found in many tyrosine-phosphorylated proteins.Phosphorylated on Tyr-198 and Tyr-220 upon reelin induction in embryonic neurons. Also phosphorylated on Ser-524 independently of reelin signaling.Spinocerebellar ataxia 37
SCA37
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA37 is an autosomal dominant form characterized by adult-onset of slowly progressive gait instability, frequent falls, and dysarthria associated with cerebellar atrophy on brain imaging.The disease is caused by variants affecting the gene represented in this entry.Alternative splicingDevelopmental proteinDifferentiationNeurodegenerationNeurogenesisPhosphoproteinReference proteomeSpinocerebellar ataxiaYIVFEAGHEPIRDPVISETSRGFRFKSDVIATKMFLPSFLSPQHGRMVADMSTETELQVAVKTSAKKDSRKKGQDRSEATLIKRFKGEGVRYKAKLIGIDEVSAARGDKLCQDSMMKLKGVVAGARSKGEHKQKIFLTISFGGIKIFDEKTGALQHHHAVHEISYIAKDITDHRAFGYVCGKEGNHRFVAIKTAQAAEPVILDLRDLFQLIYELKQREELEKKAQKDKQCEQAVYQTILEEDVEDPVYQYIVFEAGHEPIRDPETEENIYQVPTSQKKEGVYDVPKSQPVSNGYSFEDFEERFAAATPNRNLPTDFDEIFEATKAVTQLELFGDMSTPPDITSPPTPATPGDAFIPSSSQTLPASADVFSSVPFGTAAVPSGYVAMGAVLPSFWGQQPLVQQQMVMGAQPPVAQVMPGAQPIAWGQPGLFPATQQPWPTVAGQFPPAAFMPTQTVMPLPAAMFQGPLTPLATVPGTSDSTRSSPQTDKPRQKMGKETFKDFQMAQPPPVPSRKPDQPSLTCTSEAFSSYFNKVGVAQDTDDCDDFDISQLNLTPVTSTTPSTNSPPTPAPRQSSPSKSSASHASDPTTDDIFEEGFESPSKSEEQEAPDGSQASSNSDPFGEPSGEPSGDNISPQAGS
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