DAB1 - DAB adaptor protein 1 Gene

Also Known as SCA37

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 1600

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
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DAB1 Protein Structure

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (42 - 168)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 588 a.a.
Protein Preferred Names Protein Names

disabled homolog 1

  • DAB1, reelin adaptor protein

DAB1 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
DAB1 O75553 ROR2 Homo sapiens A1L4F5 25416956
Intra
DAB1 O75553 SIRPB1 Homo sapiens O00241-2 25416956
Intra
DAB1 O75553 SIRPB1 Homo sapiens O00241-2 25416956
Intra
DAB1 O75553 TMTC3 Homo sapiens Q6ZXV5 25416956
Intra
DAB1 O75553 TMTC3 Homo sapiens Q6ZXV5 25416956
Intra
DAB1 O75553 ZBTB32 Homo sapiens A0A0C4DGF1 25416956
Intra
DAB1 O75553 ZBTB32 Homo sapiens A0A0C4DGF1 25416956
Intra
DAB1 O75553 ZBTB32 Homo sapiens A0A0C4DGF1 25416956
Intra
DAB1 O75553 VENTX Homo sapiens O95231 31515488
Intra
DAB1 O75553 MBNL1 Homo sapiens Q86VM6 25416956
Intra
DAB1 O75553 MBNL1 Homo sapiens Q86VM6 25416956
Intra
DAB1 O75553 LGALS9B Homo sapiens Q3B8N2 25416956
Intra
DAB1 O75553 KRTAP19-7 Homo sapiens Q3SYF9 25416956
Intra
DAB1 O75553 KRTAP19-7 Homo sapiens Q3SYF9 25416956
Intra
DAB1 O75553 TOLLIP Homo sapiens Q6FIE9 25416956
Intra
DAB1 O75553 TCEA2 Homo sapiens Q86VL0 25416956
Intra
DAB1 O75553 KRTAP8-1 Homo sapiens Q8IUC2 25416956
Intra
DAB1 O75553 CIART Homo sapiens Q8N365 25416956
Intra
DAB1 O75553 CIART Homo sapiens Q8N365 25416956
Intra
DAB1 O75553 q9h9i0_human Homo sapiens Q9H9I0 25416956
Intra
DAB1 O75553 q9h9i0_human Homo sapiens Q9H9I0 25416956
Intra
DAB1 O75553 KRTAP19-5 Homo sapiens Q3LI72 25416956
Intra
DAB1 O75553 POGZ Homo sapiens Q7Z3K3 25416956
Intra
DAB1 O75553 NAF1 Homo sapiens Q96HR8 25416956
Intra
DAB1 O75553 NAF1 Homo sapiens Q96HR8 25416956
Intra
DAB1 O75553 MBNL1 Homo sapiens Q9NR56 25416956
Intra
DAB1 O75553 MBNL1 Homo sapiens Q9NR56 29892012
Intra
DAB1 O75553 MBNL1 Homo sapiens Q9NR56 25416956
Intra
DAB1 O75553 SMAP2 Homo sapiens Q8WU79 25416956
Intra
DAB1 O75553 RHOXF2 Homo sapiens Q9BQY4 25416956
Intra
DAB1 O75553 RHOXF2 Homo sapiens Q9BQY4 25416956
Intra
DAB1 O75553 SNRPB Homo sapiens P14678-2 25416956
Intra
DAB1 O75553 SNRPB Homo sapiens P14678-2 25416956
Intra
DAB1 O75553 HYAL3 Homo sapiens O43820 25416956
Intra
DAB1 O75553 PPIG Homo sapiens Q13427 25416956
Intra
DAB1 O75553 PPIG Homo sapiens Q13427 25416956
Intra
DAB1 O75553 PPIG Homo sapiens Q13427 25416956
Intra
DAB1 O75553 HNRNPLL Homo sapiens Q8WVV9 25416956
Intra
DAB1 O75553 MBNL3 Homo sapiens Q9NUK0 25416956
Intra
DAB1 O75553 MBNL3 Homo sapiens Q9NUK0 25416956
Intra
DAB1 O75553 TCEA2 Homo sapiens Q15560 25416956
Intra
DAB1 O75553 TCEA2 Homo sapiens Q15560 25416956
Intra
DAB1 O75553 BHLHE40 Homo sapiens O14503 25416956
Intra
DAB1 O75553 PIN1 Homo sapiens Q13526 25416956
Intra
DAB1 O75553 PIN1 Homo sapiens Q13526 25416956
Intra
DAB1 O75553 MAGED1 Homo sapiens Q9Y5V3 25416956
Intra
DAB1 O75553 MAGED1 Homo sapiens Q9Y5V3 25416956
Intra
DAB1 O75553 DAZAP2 Homo sapiens Q15038 25416956
Intra
DAB1 O75553 LNX1 Homo sapiens Q8TBB1 25416956
Intra
DAB1 O75553 LNX1 Homo sapiens Q8TBB1 29892012
Intra
DAB1 O75553 LNX1 Homo sapiens Q8TBB1 31515488
Intra
DAB1 O75553 LNX1 Homo sapiens Q8TBB1 25416956
Intra
DAB1 O75553 STRBP Homo sapiens Q96SI9 25416956
Intra
DAB1 O75553 STRBP Homo sapiens Q96SI9 25416956
Intra
DAB1 O75553 NTAQ1 Homo sapiens Q96HA8 25416956
Intra
DAB1 O75553 ZC3H10 Homo sapiens Q96K80 25416956
Intra
DAB1 O75553 RAMAC Homo sapiens Q9BTL3 25416956
Intra
DAB1 O75553 RBFOX2 Homo sapiens O43251 25416956
Intra
DAB1 O75553 TOLLIP Homo sapiens Q9H0E2 25416956
Intra
DAB1 O75553 C1orf94 Homo sapiens Q6P1W5 25416956
Intra
DAB1 O75553 C1orf94 Homo sapiens Q6P1W5 25416956
Intra
DAB1 O75553 C1orf94 Homo sapiens Q6P1W5 25416956
Intra
DAB1 O75553 ZNF488 Homo sapiens Q96MN9 25416956
Intra
DAB1 O75553 ZNF488 Homo sapiens Q96MN9 25416956
Intra
DAB1 O75553 ZNF488 Homo sapiens Q96MN9 25416956
Intra
DAB1 O75553 TCEANC Homo sapiens Q8N8B7 25416956
Intra
DAB1 O75553 TCEANC Homo sapiens Q8N8B7 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

DAB1 抗体

製品番号 製品名 アプリケーション 反応性
HY-P810865 DAB1 Antibody WB, IHC-P, ICC/IF Human, Mouse, Rat
HY-P811180 DAB1/ Disabled homolog 1 Antibody WB, ICC/IF Human, Mouse, Rat

関連疾患

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

Orthologs Information

生物種 Symbol 由来 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