DAB1 - DAB adaptor protein 1 Gene

Homo sapiens

Also known as SCA37

Gene ID: 1600 | Gene type: protein coding

About DAB1

Cytogenetic location: 1p32.2-p32.1 Genomic coordinates (GRCh38): 1:56,994,778-58,546,726 (from NCBI)

This gene has 11 transcripts (splice variants), 294 orthologues, 11 paralogues and is associated with 2 phenotypes. Biased expression in small intestine (RPKM 6.3), duodenum (RPKM 4.1) and 7 other tissues.

Summary

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]

DAB1 Products(11)

mRNA	Protein	Name
NM_001353980.2	NP_001340909.1	disabled homolog 1 isoform 2
NM_001353983.2	NP_001340912.1	disabled homolog 1 isoform 1
NM_001353985.2	NP_001340914.1	disabled homolog 1 isoform 1
NM_001353986.2	NP_001340915.1	disabled homolog 1 isoform 3
NM_001365792.1	NP_001352721.1	disabled homolog 1 isoform 1
NM_001365793.1	NP_001352722.1	disabled homolog 1 isoform 1
NM_001365794.2	NP_001352723.1	disabled homolog 1 isoform 2
NM_001365795.2	NP_001352724.1	disabled homolog 1 isoform 2
NM_001379461.1	NP_001366390.1	disabled homolog 1 isoform 3
NM_001379462.1	NP_001366391.1	disabled homolog 1 isoform 1
NM_021080.5	NP_066566.3	disabled homolog 1 isoform 1

DAB1 Protein Structure

PID

0
100
200
300
400
500
588 a.a.

Protein Preferred Names

Protein Names

disabled homolog 1

DAB1, reelin adaptor protein

Related Diseases

Diseases

Alias

Spinocerebellar Ataxia 37

Spinocerebellar Ataxia Type 37	SCA37
Spinocerebellar Ataxia With Altered Vertical Eye Movements

Spastic Ataxia

Spax	Ataxia, Spastic

Epilepsy, Familial Adult Myoclonic, 6

FAME6	Benign Adult Familial Myoclonic Epilepsy 6
Bafme6	Fcmte6
Cortical Myoclonic Tremor With Epilepsy, Familial, 6	Familial Adult Myoclonic Epilepsy 6
Familial Cortical Myoclonic Tremor And Epilepsy 6	Epilepsy, Myoclonic, Familial Adult, Type 6

Cerebellar Ataxia Type 43

Sca43

Spinocerebellar Ataxia, X-Linked 1

X-Linked Progressive Cerebellar Ataxia	SCAX1
Opcax	X-Linked Spinocerebellar Ataxia 1
Olivopontocerebellar Atrophy, X-Linked	Opca, X-Linked
Olivopontocerebellar Atrophy X-Linked	Opca X-Linked
Ataxia, Spinocerebellar, X-Linked Type 1

Spinocerebellar Ataxia 35

Spinocerebellar Ataxia Type 35	SCA35
Ataxia, Spinocerebellar, Type 35

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Cerebellar Ataxia Type 47

Sca47

Epilepsy, Familial Adult Myoclonic, 7

FAME7	Bafme7
Fcmte7	Benign Adult Familial Myoclonic Epilepsy 7
Cortical Myoclonic Tremor With Epilepsy, Familial, 7	Familial Adult Myoclonic Epilepsy 7
Familial Cortical Myoclonic Tremor And Epilepsy 7	Benign Adult Familial Myoclonic Epilepsy 27
Epilepsy, Myoclonic, Familial Adult, Type 7

Epilepsy, Familial Adult Myoclonic, 1

FAME1	Benign Adult Familial Myoclonic Epilepsy 1
Bafme1	Fcmte1
Cortical Myoclonic Tremor With Epilepsy, Familial, 1	Familial Adult Myoclonic Epilepsy 1
Familial Cortical Myoclonic Tremor And Epilepsy 1	Epilepsy, Myoclonic, Familial Adult, Type 1

Spinocerebellar Ataxia, Autosomal Recessive 4

SCAR4	Scasi
Spinocerebellar Ataxia With Saccadic Intrusions	Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome
Spinocerebellar Ataxia 24	Autosomal Recessive Spinocerebellar Ataxia 4
Sca24	Spinocerebellar Ataxia 24, Formerly
Sca24, Formerly	Spinocerebellar Ataxia Autosomal Recessive 4
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome

X-Linked Cerebellar Ataxia

Boucher-Neuhauser Syndrome

Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome	BNHS
Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, And Chorioretinal Dystrophy	Boucher-Neuhäuser Syndrome
Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism	Ataxia - Hypogonadism - Choroidal Dystrophy
Chorioretinal Dystrophy, Spinocerebellar Ataxia And Hypogonadotropic Hypogonadism	Bns
Cerebellar Ataxia With Hypogonadism And Choroidal Dystrophy Syndrome	Boucher Neuhauser Syndrome

Epilepsy, Familial Adult Myoclonic, 3

FAME3	Fcmte3
Cortical Myoclonic Tremor With Epilepsy, Familial, 3	Familial Adult Myoclonic Epilepsy 3
Familial Cortical Myoclonic Tremor And Epilepsy 3	Epilepsy, Myoclonic, Familial Adult, Type 3

Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy	Bafme
Benign Adult Familial Myoclonic Epilepsy	Fame
Familial Cortical Myoclonic Tremor And Epilepsy	Fcmte
Adcme	Autosomal Dominant Cortical Myoclonus And Epilepsy
Fam	Epilepsy, Myoclonic, Familial Adult
Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Spinocerebellar Ataxia 31

Spinocerebellar Ataxia Type 31	SCA31
Spinocerebellar Ataxia 16q22-Linked	Spinocerebellar Ataxia, 16q22-Linked
Pure Spinocerebellar Ataxia Japanese Type	Sca4 Pure Japanese Type
Ataxia, Spinocerebellar, Type 31

Spinocerebellar Ataxia 10

Spinocerebellar Ataxia Type 10	SCA10
Spinocerebellar Ataxia-10	Ataxia, Spinocerebellar, Type 10

Epilepsy, Familial Adult Myoclonic, 2

FAME2	Benign Adult Familial Myoclonic Epilepsy 2
Bafme2	Fcmte2
Adcme	Cortical Myoclonic Tremor With Epilepsy, Familial, 2
Cortical Myoclonus And Epilepsy, Autosomal Dominant	Familial Adult Myoclonic Epilepsy 2
Epilepsy, Myoclonic, Benign Adult Familial, Type 2	Autosomal Dominant Cortical Myoclonus And Epilepsy
Familial Cortical Myoclonic Tremor And Epilepsy 2	Epilepsy, Myoclonic, Familial Adult, Type 2

Spinocerebellar Ataxia 36

Spinocerebellar Ataxia Type 36	SCA36
Asidan Ataxia	Costa De Morte Ataxia
Asidan	Ataxia, Spinocerebellar, Type 36

Adolescence-Adult Electroclinical Syndrome

Epilepsy, Familial Temporal Lobe, 7

Familial Temporal Lobe Epilepsy 7	ETL7
Epilepsy, Temporal Lobe, Familial, Type 7

Cerebellar Ataxia Type 48

Sca48

Spinocerebellar Ataxia 14

Spinocerebellar Ataxia Type 14	SCA14
Ataxia, Spinocerebellar, Type 14

Lissencephaly 3

LIS3	Lissencephaly Due To Tuba1a Mutation
Lissencephaly Type 3	Lissencephaly, Type 3

Myotonic Dystrophy 2

Myotonic Dystrophy Type 2	Proximal Myotonic Myopathy
Promm	Ricker Syndrome
DM2	Dystrophia Myotonica 2
Myotonic Myopathy, Proximal	Myotonic Disorders
Dystrophia Myotonica Type 2	Proximal Myotonic Dystrophy
Ricker Disease	Myotonic Dystrophy, Type 2
Dystrophy, Myotonic, Type 2

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy	Fuchs Endothelial Dystrophy
Fuchs Dystrophy	Fced
Fuchs' Corneal Dystrophy	Fuchs' Endothelial Corneal Dystrophy
Fuchs Atrophy	Fuchs Corneal Dystrophy
Endoepithelial Corneal Dystrophy	Fecd
Late Hereditary Endothelial Dystrophy	Corneal Dystrophy, Fuchs Endothelial
Dystrophy, Corneal, Fuchs Endothelial	Corneal Dystrophy, Fuchs' Endothelial, 1

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia	Adca
Pierre Marie Cerebellar Ataxia	Ataxia, Spinocerebellar
Sca	Autosomal Dominant Spinocerebellar Ataxia
Spinocerebellar Ataxias

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Episodic Ataxia

Isaacs Syndrome	Neuromyotonia
Isaacs' Syndrome	Acquired Neuromyotonia
Continuous Muscle Fiber Activity Syndrome	Quantal Squander Syndrome
Isaacs-Mertens Syndrome	Ea Syndrome
Episodic Ataxia Syndrome	Isaac Syndrome
Isaac'S-Merten'S Syndrome	Isaac-Mertens Syndrome
Peripheral Nerve Hyperexcitability	Ea
Peripheral Nerve Hyperexcitability Syndrome	Ataxia, Episodic
Isaacs Neuromyotonia	Continuous Muscle Fibre Activity

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03510	DAB1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DAB1	RGD	RGD:628770
Mus musculus	DAB1	MGD	MGI:108554
Macaca mulatta	DAB1	VGNC	VGNC:71723
Bos taurus	DAB1	VGNC	VGNC:27864
Felis catus	DAB1	VGNC	VGNC:61328
Canis familiaris	DAB1	VGNC	VGNC:39758
Others	DAB1	NCBI