NDEL1 nudE neurodevelopment protein 1 like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NDEL1provided by HGNC
Official Full Name: nudE neurodevelopment protein 1 like 1provided by HGNC
Primary source: HGNC:HGNC:17620
See related: Ensembl:ENSG00000166579 MIM:607538; AllianceGenome:HGNC:17620
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EOPA; NDE2; NUDEL; MITAP1; NDE1L1
Summary: Enables identical protein binding activity. Involved in chromosome segregation; positive regulation of GTPase activity; and regulation of intracellular protein transport. Located in kinetochore. Biomarker of schizophrenia. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in bone marrow (RPKM 18.6), adrenal (RPKM 13.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (8413131..8474328)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (8319371..8379912)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (8339202..8371481)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations.
Title: Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations.
Effects of representative point mutations on dynamic behavior of the DISC1-Ndel1 complex: a molecular dynamics study.
Title: Effects of representative point mutations on dynamic behavior of the DISC1-Ndel1 complex: a molecular dynamics study.
Ndel1 disfavors dynein-dynactin-adaptor complex formation in two distinct ways.
Title: Ndel1 disfavors dynein-dynactin-adaptor complex formation in two distinct ways.
DYRK2 phosphorylates NDEL1 S336 to prime the phosphorylation of NDEL1 S332 by GSK3beta. The data suggest the NDEL1 phosphorylation at S336/S332 by the TARA-DYRK2-GSK3beta complex as a novel regulatory mechanism underlying neuronal morphogenesis.
Title: Sequential phosphorylation of NDEL1 by the DYRK2-GSK3β complex is critical for neuronal morphogenesis.
observed a positive correlation between Ndel1 activity and the total YMRS score in BD group (p = 0.030) and a positive correlation between ACE activity and Ham-D score
Title: Oligopeptidases activity in bipolar disorder: Ndel1 and angiotensin I converting enzyme.
Results demonstrate that Ndel1 interacts with Tara to regulate cell movement revealing a novel role of the Ndel1-Tara complex in actin reorganization during cell movement.
Title: Regulation of the actin cytoskeleton by the Ndel1-Tara complex is critical for cell migration.
results highlight S-Nitrosylation as a key activity-dependent mechanism underlying neonatal brain maturation and suggest that reduction of S-Nitrosylation of NDEL1 acts as a pathological factor mediating neurodevelopmental abnormalities caused by maternal alcohol exposure
Title: Developmental Alcohol Exposure Impairs Activity-Dependent S-Nitrosylation of NDEL1 for Neuronal Maturation.
disrupting DISC1/Ndel1 complex formation prolongs mitotic length and interferes with cell-cycle progression in human cells, and it causes cell-cycle deficits of radial glial cells in the embryonic mouse cortex and human forebrain organoids
Title: DISC1 Regulates Neurogenesis via Modulating Kinetochore Attachment of Ndel1/Nde1 during Mitosis.
Study showed that Ndel1 enzyme activity is a complex trait influenced by many different genetic variants that may contribute to schizophrenia physiopathology
Title: Genome-wide investigation of schizophrenia associated plasma Ndel1 enzyme activity.
This study observed a significantly increased myelin basic protein (MBP) and nuclear distribution protein nudE-like 1 (NDEL1) mRNA levels in FEP patients compared with controls.
Title: Increased expression of NDEL1 and MBP genes in the peripheral blood of antipsychotic-naïve patients with first-episode psychosis.

Submit: New GeneRIF Correction See all GeneRIFs (46)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-N53016 (e-PCR)
- UniSTS:25762

D17S1452E (e-PCR)
- UniSTS:150492

RH45856 (e-PCR)
- UniSTS:58334

SHGC-53475 (e-PCR)
- UniSTS:74471

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-tubulin binding	IEA Inferred from Electronic Annotation more info
enables beta-tubulin binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in central nervous system neuron axonogenesis	IEA Inferred from Electronic Annotation more info
involved_in centrosome localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cerebral cortex radially oriented cell migration	IEA Inferred from Electronic Annotation more info
involved_in chromosome segregation	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of chromosome localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of mitotic spindle orientation	IBA Inferred from Biological aspect of Ancestor more info
involved_in inner cell mass cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in insulin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in lysosome localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in microtubule nucleation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic centrosome separation	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurofilament cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in neuron projection extension	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ruffle assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in radial glia-guided pyramidal neuron migration	IEA Inferred from Electronic Annotation more info
involved_in regulation of intracellular protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of neuron projection development	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde axonal transport	IEA Inferred from Electronic Annotation more info
involved_in vesicle transport along microtubule	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in axon hillock	IEA Inferred from Electronic Annotation more info
located_in cell leading edge	IEA Inferred from Electronic Annotation more info
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
part_of kinesin complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in kinetochore	IBA Inferred from Biological aspect of Ancestor more info
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in neurofilament cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in spindle	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: nuclear distribution protein nudE-like 1

Names: endooligopeptidase A; mitosin-associated protein 1; mitosin-associated protein MITAP1; nudE nuclear distribution E homolog-like 1; nudE nuclear distribution gene E homolog-like 1; protein Nudel

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029963.3 RefSeqGene

Range

27755..60034

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001025579.3 → NP_001020750.1 nuclear distribution protein nudE-like 1 isoform A

See identical proteins and their annotated locations for NP_001020750.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes isoform A.

Source sequence(s)

AC026130

Consensus CDS

CCDS32564.1

UniProtKB/Swiss-Prot

Q9GZM8

Related

ENSP00000384963.3, ENST00000402554.7

Conserved Domains (2) summary

TIGR02168
Location:24 → 195

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam04880
Location:135 → 309

NUDE_C; NUDE protein, C-terminal conserved region
NM_001330129.2 → NP_001317058.1 nuclear distribution protein nudE-like 1 isoform C

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate exons in the 3' coding region, resulting in a frameshift compared to variant 1. The encoded isoform (C) is shorter than isoform A.

Source sequence(s)

AC026130

Consensus CDS

CCDS82070.1

UniProtKB/TrEMBL

A6NIZ0

Related

ENSP00000369364.4, ENST00000380025.8

Conserved Domains (2) summary

pfam04880
Location:135 → 264

NUDE_C; NUDE protein, C-terminal conserved region

cl25732
Location:24 → 195

SMC_N; RecF/RecN/SMC N terminal domain
NM_030808.5 → NP_110435.1 nuclear distribution protein nudE-like 1 isoform B

See identical proteins and their annotated locations for NP_110435.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 3' coding region, compared to variant 1. The encoded isoform (B) is longer and has a distinct C-terminus, compared to isoform A.

Source sequence(s)

AC026130

Consensus CDS

CCDS11143.1

UniProtKB/Swiss-Prot

B3KP93, D3DTS0, J3QT32, Q86T80, Q8TAR7, Q9GZM8, Q9UH50

UniProtKB/TrEMBL

B4DS41

Related

ENSP00000333982.7, ENST00000334527.12

Conserved Domains (2) summary

TIGR02168
Location:24 → 195

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam04880
Location:135 → 309

NUDE_C; NUDE protein, C-terminal conserved region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

8413131..8474328

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047436861.1 → XP_047292817.1 nuclear distribution protein nudE-like 1 isoform X3

UniProtKB/Swiss-Prot

B3KP93, D3DTS0, J3QT32, Q86T80, Q8TAR7, Q9GZM8, Q9UH50
XM_017025183.2 → XP_016880672.1 nuclear distribution protein nudE-like 1 isoform X1

UniProtKB/TrEMBL

B4DS41
XM_017025186.2 → XP_016880675.1 nuclear distribution protein nudE-like 1 isoform X4

Conserved Domains (2) summary

pfam04880
Location:148 → 322

NUDE_C; NUDE protein, C-terminal conserved region

cl03075
Location:77 → 163

GrpE; nucleotide exchange factor GrpE
XM_017025184.2 → XP_016880673.1 nuclear distribution protein nudE-like 1 isoform X2

UniProtKB/TrEMBL

B4DS41
XM_017025188.2 → XP_016880677.1 nuclear distribution protein nudE-like 1 isoform X5
XM_047436860.1 → XP_047292816.1 nuclear distribution protein nudE-like 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

8319371..8379912

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054317448.1 → XP_054173423.1 nuclear distribution protein nudE-like 1 isoform X3

UniProtKB/Swiss-Prot

B3KP93, D3DTS0, J3QT32, Q86T80, Q8TAR7, Q9GZM8, Q9UH50
XM_054317445.1 → XP_054173420.1 nuclear distribution protein nudE-like 1 isoform X1
XM_054317449.1 → XP_054173424.1 nuclear distribution protein nudE-like 1 isoform X4
XM_054317446.1 → XP_054173421.1 nuclear distribution protein nudE-like 1 isoform X2
XM_054317450.1 → XP_054173425.1 nuclear distribution protein nudE-like 1 isoform X5
XM_054317447.1 → XP_054173422.1 nuclear distribution protein nudE-like 1 isoform X2