DAB1
entrez
1600
canonical
uniprot
O75553
canonical
ensembl
ENSG00000173406
resolver
ensp
ENSP00000360280
resolver
ensp
ENSP00000524028
resolver
ensp
ENSP00000599534
resolver
ensp
ENSP00000599535
resolver
ensp
ENSP00000629387
resolver
ensp
ENSP00000786060
resolver
genesymbol
DAB1
resolver
hgnc
HGNC:2661
resolver
uniprot
A4FU90
resolver
uniprot
B3KTG3
resolver
uniprot
Q4LE59
resolver
uniprot
Q5T6M6
resolver
uniprot
Q5T6M9
resolver
uniprot
Q5T835
resolver
uniprot
Q5T836
resolver
uniprot
Q5T837
resolver
uniprot
Q6NWS9
resolver
uniprot
Q6NWT0
resolver
uniprot
Q6NWT1
resolver
uniprot
Q9NYA8
resolver
uniprot_entry
DAB1_HUMAN
resolver
uniprot_sec
A4FU90
resolver
uniprot_sec
B3KTG3
resolver
uniprot_sec
Q4LE59
resolver
uniprot_sec
Q5T6M6
resolver
uniprot_sec
Q5T6M9
resolver
uniprot_sec
Q5T835
resolver
uniprot_sec
Q5T836
resolver
uniprot_sec
Q5T837
resolver
uniprot_sec
Q6NWS9
resolver
uniprot_sec
Q6NWT0
resolver
uniprot_sec
Q6NWT1
resolver
uniprot_sec
Q9NYA8
resolver
amino_acid_sequence
MSTETELQVAVKTSAKKDSRKKGQDRSEATLIKRFKGEGVRYKAKLIGIDEVSAARGDKLCQDSMMKLKGVVAGARSKGEHKQKIFLTISFGGIKIFDEKTGALQHHHAVHEISYIAKDITDHRAFGYVCGKEGNHRFVAIKTAQAAEPVILDLRDLFQLIYELKQREELEKKAQKDKQCEQAVYQTILEEDVEDPVYQYIVFEAGHEPIRDPETEENIYQVPTSQKKEGVYDVPKSQPVSNGYSFEDFEERFAAATPNRNLPTDFDEIFEATKAVTQLELFGDMSTPPDITSPPTPATPGDAFIPSSSQTLPASADVFSSVPFGTAAVPSGYVAMGAVLPSFWGQQPLVQQQMVMGAQPPVAQVMPGAQPIAWGQPGLFPATQQPWPTVAGQFPPAAFMPTQTVMPLPAAMFQGPLTPLATVPGTSDSTRSSPQTDKPRQKMGKETFKDFQMAQPPPVPSRKPDQPSLTCTSEAFSSYFNKVGVAQDTDDCDDFDISQLNLTPVTSTTPSTNSPPTPAPRQSSPSKSSASHASDPTTDDIFEEGFESPSKSEEQEAPDGSQASSNSDPFGEPSGEPSGDNISPQAGS
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia 37 (SCA37) [MIM:615945]: 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. {ECO:0000269|PubMed:28686858}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Signaling adapter of the reelin-mediated signaling pathway, which regulates the migration and differentiation of postmitotic neurons during brain development. Mediates intracellular transduction of Reelin signaling following reelin (RELN)-binding to its receptor: acts by docking proteins through its phosphotyrosine residues and PID domain. {ECO:0000250|UniProtKB:P97318}.
uniprot
proteins
mass_dalton
63775
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by FYN on Tyr-198 and Tyr-220 upon reelin induction in embryonic neurons. Also phosphorylated on Ser-524 independently of reelin signaling. {ECO:0000250|UniProtKB:P97318}.; PTM: Ubiquitinated by various cullin-5-RING E3 ubiquitin-protein ligase complexes (ECS complexes) following ligand-binding and phosphorylation, leading to its degradation. Ubiquitinated by the ECS(SOCS7) complex in the cortical plate of the developing cerebral cortex following ligand-binding and phosphorylation by FYN, leading to its degradation by the proteasome. Recognized by ZSWIM8 through a disorder targets misorder mechanism that eliminates misfolded DAB1 via ubiquitination and proteasomal degradation (PubMed:35989311). {ECO:0000250|UniProtKB:P97318, ECO:0000269|PubMed:35989311}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15272003
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
28686858
uniprot
proteins
pubmed
35989311
uniprot
proteins
pubmed
9790777
uniprot
proteins
sequence_length
588
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P97318}.
uniprot
proteins