NDE1 - nudE neurodevelopment protein 1 Gene

Also Known as NDE; LIS4; MHAC; NUDE; NUDE1; HOM-TES-87

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54820

About NDE1

Cytogenetic location: 16p13.11 Genomic coordinates (GRCh38): 16:15,643,382-15,726,353 (from NCBI)

This gene has 22 transcripts (splice variants), 1 gene allele, 272 orthologues, 1 paralogue and is associated with 6 phenotypes. Broad expression in esophagus (RPKM 68.2), prostate (RPKM 53.0) and 18 other tissues.

Summary

This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with Other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, Mitosis and neuronal migration. Mutations in this gene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

NDE1 Products (2)

mRNA	Protein	Name
NM_001143979.2	NP_001137451.1	nuclear distribution protein nudE homolog 1
NM_017668.3	NP_060138.1	nuclear distribution protein nudE homolog 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	22843697	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16682949	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cerebral cortex development	IMP IMP: Inferred from mutant phenotype	21529752	GOA
involved in establishment of chromosome localization	IMP IMP: Inferred from mutant phenotype	17600710	GOA
involved in establishment of mitotic spindle orientation	IMP IMP: Inferred from mutant phenotype	19468067	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centrosome	IDA IDA: Inferred from direct assay	21399614	GOA
located in kinetochore	IDA IDA: Inferred from direct assay	17600710	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

NDE1 Protein Structure

NUDE_C

0
100
200
300
335 a.a.

Protein Preferred Names	Protein Names
nuclear distribution protein nudE homolog 1	LIS1-interacting protein NUDE1, rat homolog

NDE1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NDE1	Q9NXR1	YWHAE	Homo sapiens	P62258	Pull Down	25332407
Intra	NDE1	Q9NXR1	NDEL1	Homo sapiens	Q9GZM8	Crosslink	22843697
Intra	NDE1	Q9NXR1	ZNF365	Homo sapiens	Q70YC5	Anti Tag CoIP	16682949
Intra	NDE1	Q9NXR1	NDE1	Homo sapiens	Q9NXR1	Crosslink	22843697
Intra	NDE1	Q9NXR1	NDE1	Homo sapiens	Q9NXR1	Comigration in SDS	22843697
Intra	NDE1	Q9NXR1	NDE1	Homo sapiens	Q9NXR1	GMS	22843697
Intra	NDE1	Q9NXR1	NDE1	Homo sapiens	Q9NXR1	Light Scattering	22843697

Cross: Cross-species interaction Intra: Intraspecies interaction

NDE1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89893	NUDE1 Antibody (YA9237)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

Related Diseases

Diseases	Alias
Microhydranencephaly	MHAC Nde1-Related Microhydranencephaly Hydranencephaly And Microcephaly
Lissencephaly 4	LIS4 Lissencephaly 4 With Microcephaly Microlissencephaly Lissencephaly, Type 4
Hydranencephaly	Hydroanencephaly
Visceral Myopathy 2	VSCM2
Lissencephaly 2	Norman-Roberts Syndrome Lissencephaly Syndrome, Norman-Roberts Type LIS2 Lissencephaly With Cerebellar Hypoplasia Lch Lissencephaly Syndrome Norman-Roberts Type Norman Roberts Lissencephaly Syndrome Lissencephaly 3 Lis3 Microlissencephaly Type A Norman-Roberts Lissencephaly Syndrome Lissencephaly, Type 2 Cobblestone Lissencephaly
Aortic Aneurysm, Familial Thoracic 4	AAT4 Faa4 Aortic Aneurysm/Aortic Dissection And Patent Ductus Arteriosus Familial Aortic Aneurysm 4 Non-Syndromic Thoracic Aortic Aneurysms And Dissection Taad Thoracic Aortic Aneurysms And Dissection Thoracic Aortic Aneurysms And Dissections Aneurysm, Aortic, Thoracic, Familial, Type 4
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Familial Thoracic Aortic Aneurysm Congenital Aneurysm Of Ascending Aorta Familial Aortic Aneurysm Familial Thoracic Aortic Aneurysm And Dissection Aortic Aneurysm, Thoracic AAT1 Faa1 Aortic Dissection, Familial Aortic Aneurysm, Familial Thoracic Aneurysm, Thoracic Aortic Faa Ftaad Taa Taad Cystic Medial Necrosis Of Aorta Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection Aortic Aneurysm Thoracic Familial Aortic Aneurysms Aneurysm, Aortic, Thoracic, Familial, Type 1 Aneurysm Of Thoracic Aorta Intrathoracic Aneurysm Thoracic Aorta Aneurysm Thoracic Aortic Aneurysm Without Rupture Thoracic Aneurysm Thorax Arterial Aneurysm Thoracic Artery Aneurysm Thoracic Arterial Aneurysm Thorax Aneurysm Thorax Aortic Aneurysm Dissection Of Thoracic Aorta
Tricuspid Valve Insufficiency	Tricuspid Regurgitation Tricuspid Valve Regurgitation Tricuspid Incompetence Tr - [Tricuspid Regurgitation] Tricuspid Valve Incompetency Tricuspid Valve Annular Incompetency
Mitral Valve Insufficiency	Mitral Regurgitation Congenital Insufficiency Of Mitral Valve Congenital Mitral Insufficiency Congenital Mitral Regurgitation Mitral Valve Incompetence Mitral Valve Regurgitation Mr - [Mitral Regurgitation] Mi - [Mitral Incompetence] Mitral Valve Annular Incompetency Congenital Mitral Valve Incompetence Congenital Mitral Valve Insufficiency Congenital Mitral Valve Regurgitation Congenital Mitral Incompetence
Intestinal Pseudo-Obstruction	Chronic Intestinal Pseudoobstruction Chronic Intestinal Pseudo-Obstruction Cipo Neuronal Intestinal Dysplasia Hollow Visceral Myopathy Familial Visceral Neuropathy Paralytic Ileus Intestinal Pseudoobstruction Chronic Idiopathic Intestinal Pseudo-Obstruction Ciip Congenital Short Bowel Syndrome Enteric Neuropathy Familial Visceral Myopathy Ipo Pseudo-Obstruction Of Intestine Pseudointestinal Obstruction Syndrome Pseudoobstructive Syndrome Congenital Idiopathic Intestinal Pseudoobstruction Visceral Myopathy, Familial
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Microlissencephaly
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Miller-Dieker Lissencephaly Syndrome	Miller-Dieker Syndrome Mds MDLS Miller Dieker Syndrome Classical Lissencephaly Syndrome Lissencephaly Due To 17p13.3 Deletion Monosomy 17p13.3 Telomeric Deletion 17p Classical Lissencephaly
Short-Rib Thoracic Dysplasia 14 With Polydactyly	SRTD14
Mosaic Variegated Aneuploidy Syndrome 2	MVA2 Mosaic Variegated Aneuploidy Syndrome, Type 2
Lissencephaly 1	LIS1 Classic Lissencephaly Ils Subcortical Laminar Heterotopia Lissencephaly Due To Lis1 Mutation Lissencephaly Sequence, Isolated Lissencephaly, Classic Pafah1b1-Related Lissencephaly Classical Lissencephaly Lissencephaly Type 1 Lissencephaly-1 Subcortical Band Heterotopia Double Cortex Lissencephaly Classic Lissencephaly Sequence Isolated Isolated Lissencephaly Sequence Type 1 Lissencephaly Lissencephaly Syndrome Type 1 SBH Sclh Lissencephaly, Type 1 Type I Lissencephaly
Mosaic Variegated Aneuploidy Syndrome 1	Mva Syndrome MVA1 Mosaic Variegated Aneuploidy Syndrome, Type 1 Mosaic Variegated Aneuploidy Syndrome Congenital Chromosomal Disease
Band Heterotopia	Subcortical Band Heterotopia Double Cortex Syndrome Subcortical Laminar Heterotopia Double Cortex Band Heterotopia Of Brain BH Heco Heterotopic Cortex Familial Band Heterotopia Dc Dc Syndrome Heterotopia, Subcortical Band Sbh Sclh Bhy
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Mosaic Variegated Aneuploidy Syndrome	Warburton-Anyane-Yeboa Syndrome Mva Syndrome Mosaic Variegated Aneuplody Microcephaly Syndrome Warburton Anyane Yeboa Syndrome
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral Perisylvian Polymicrogyria Polymicrogyria, Bilateral Perisylvian Pmgx Perisylvian Syndrome, Congenital Bilateral Cbps Congenital Bilateral Perisylvian Syndrome Perisylvian Syndrome BPPX Bpp
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Physical Disorder	Physical Illness
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-175496	Acid Ceramidase-IN-3	Inhibitor	/	Unkown
HY-RS09106	NDE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NDE1	MGD	MGI:1914453
Macaca mulatta	NDE1	VGNC	VGNC:74981
Canis familiaris	NDE1	VGNC	VGNC:43671
Bos taurus	NDE1	VGNC	VGNC:31932
Felis catus	NDE1	VGNC	VGNC:63748
Rattus norvegicus	NDE1	RGD	RGD:620038
Others	NDE1	NCBI