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

Gene ID: 81565, updated on 17-Jun-2019

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
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
This gene encodes a coiled-coil protein that plays a role in multiple processes including cytoskeletal organization, cell signaling and neuron migration, outgrowth and maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Mar 2012]
Expression
Ubiquitous expression in bone marrow (RPKM 18.6), adrenal (RPKM 13.4) and 25 other tissues See more
Orthologs

Genomic context

See NDEL1 in Genome Data Viewer
Location:
17p13.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (8435884..8472744)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8316447..8371495)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12124 Neighboring gene Sharpr-MPRA regulatory regions 4336 and 10869 Neighboring gene uncharacterized LOC107987245 Neighboring gene uncharacterized LOC112268195 Neighboring gene myosin heavy chain 10

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Aurora A signaling, organism-specific biosystem (from Pathway Interaction Database)
    Aurora A signaling, organism-specific biosystem
    Aurora A signaling
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Lissencephaly gene (LIS1) in neuronal migration and development, organism-specific biosystem (from Pathway Interaction Database)
    Lissencephaly gene (LIS1) in neuronal migration and development, organism-specific biosystem
    Lissencephaly gene (LIS1) in neuronal migration and development
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
    Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
  • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
    Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp451M0318

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-tubulin binding IEA
Inferred from Electronic Annotation
more info
 
beta-tubulin binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oligopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
activation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
central nervous system neuron axonogenesis IEA
Inferred from Electronic Annotation
more info
 
centrosome localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cerebral cortex radially oriented cell migration IEA
Inferred from Electronic Annotation
more info
 
chromosome segregation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of chromosome localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment of mitotic spindle orientation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inner cell mass cell proliferation IEA
Inferred from Electronic Annotation
more info
 
insulin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
lysosome localization ISS
Inferred from Sequence or Structural Similarity
more info
 
microtubule nucleation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic centrosome separation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neurofilament cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
neuron migration IEA
Inferred from Electronic Annotation
more info
 
neuron projection extension IEA
Inferred from Electronic Annotation
more info
 
nuclear envelope disassembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of axon extension IEA
Inferred from Electronic Annotation
more info
 
positive regulation of axon regeneration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ruffle assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of intracellular protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of microtubule motor activity IEA
Inferred from Electronic Annotation
more info
 
regulation of neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retrograde axonal transport IEA
Inferred from Electronic Annotation
more info
 
vesicle transport along microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
axon hillock IEA
Inferred from Electronic Annotation
more info
 
cell leading edge IEA
Inferred from Electronic Annotation
more info
 
central region of growth cone IEA
Inferred from Electronic Annotation
more info
 
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
kinesin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
neurofilament cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
nuclear envelope IEA
Inferred from Electronic Annotation
more info
 
spindle IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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

  1. NG_029963.2 RefSeqGene

    Range
    4992..37317
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001025579.3NP_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
    pfam04880
    Location:135309
    NUDE_C; NUDE protein, C-terminal conserved region
    cl25732
    Location:24195
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_001330129.2NP_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:135264
    NUDE_C; NUDE protein, C-terminal conserved region
    cl25732
    Location:24195
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_030808.5NP_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
    Q9GZM8
    Related
    ENSP00000333982.7, ENST00000334527.11
    Conserved Domains (2) summary
    pfam04880
    Location:135309
    NUDE_C; NUDE protein, C-terminal conserved region
    cl25732
    Location:24195
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    8435884..8472744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025183.1XP_016880672.1  nuclear distribution protein nudE-like 1 isoform X1

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

    Conserved Domains (2) summary
    pfam04880
    Location:148322
    NUDE_C; NUDE protein, C-terminal conserved region
    cl03075
    Location:77163
    GrpE; nucleotide exchange factor GrpE
  3. XM_017025184.1XP_016880673.1  nuclear distribution protein nudE-like 1 isoform X2

  4. XM_017025188.1XP_016880677.1  nuclear distribution protein nudE-like 1 isoform X6

  5. XM_017025187.1XP_016880676.1  nuclear distribution protein nudE-like 1 isoform X5

    UniProtKB/Swiss-Prot
    Q9GZM8
    Conserved Domains (2) summary
    pfam04880
    Location:135309
    NUDE_C; NUDE protein, C-terminal conserved region
    cl25732
    Location:24195
    SMC_N; RecF/RecN/SMC N terminal domain
  6. XM_017025185.1XP_016880674.1  nuclear distribution protein nudE-like 1 isoform X3

    UniProtKB/Swiss-Prot
    Q9GZM8
    Conserved Domains (2) summary
    pfam04880
    Location:135309
    NUDE_C; NUDE protein, C-terminal conserved region
    cl25732
    Location:24195
    SMC_N; RecF/RecN/SMC N terminal domain
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