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    NEDD1 neural precursor cell expressed, developmentally down-regulated 1 [ Homo sapiens (human) ]

    Gene ID: 121441, updated on 4-Jun-2017
    Official Symbol
    NEDD1provided by HGNC
    Official Full Name
    neural precursor cell expressed, developmentally down-regulated 1provided by HGNC
    Primary source
    HGNC:HGNC:7723
    See related
    Ensembl:ENSG00000139350 MIM:600372; Vega:OTTHUMG00000170604
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GCP-WD; TUBGCP7
    Orthologs
    Location:
    12q23.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (96907222..96953691)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (97301001..97347474)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 54 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 33 Neighboring gene transfer RNA-Gln (TTG) 9-1 Neighboring gene uncharacterized LOC107984547

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Common genetic variants on 1p13.2 associate with risk of autism.
    NHGRI GWA Catalog
    Genetic variants associated with breast size also influence breast cancer risk.
    NHGRI GWA Catalog
    • AURKA Activation by TPX2, organism-specific biosystem (from REACTOME)
      AURKA Activation by TPX2, organism-specific biosystemTPX2 binds to aurora kinase A (AURKA) at centrosomes and promotes its activation by facilitating AURKA active conformation and autophosphorylation of the AURKA threonine residue T288 (Bayliss et al. ...
    • Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
      Anchoring of the basal body to the plasma membrane, organism-specific biosystemCilium biogenesis is initiated by the docking of basal bodies, a centriole-derived organelle, to the plasma membrane (reviewed in Reiter et al, 2012). The centriole consists of a multiprotein core su...
    • 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...
    • Centrosome maturation, organism-specific biosystem (from REACTOME)
      Centrosome maturation, organism-specific biosystemThe centrosome is the primary microtubule organizing center (MTOC) in vertebrate cells and plays an important role in orchestrating the formation of the mitotic spindle. Centrosome maturation is an ...
    • Cilium Assembly, organism-specific biosystem (from REACTOME)
      Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
    • G2/M Transition, organism-specific biosystem (from REACTOME)
      G2/M Transition, organism-specific biosystemCyclin A can also form complexes with Cdc2 (Cdk1). Together with three B-type cyclins, Cdc2 (Cdk1) regulates the transition from G2 into mitosis. These complexes are activated by dephosphorylation of...
    • Loss of Nlp from mitotic centrosomes, organism-specific biosystem (from REACTOME)
      Loss of Nlp from mitotic centrosomes, organism-specific biosystemDuring interphase, Nlp interacts with gamma-tubulin ring complexes (gamma-TuRC), and is thought to contribute to the organization of interphase microtubules (Casenghi et al.,2003). Plk1 is activated...
    • Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystem (from REACTOME)
      Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystemIn addition to recruiting proteins and complexes necessary for increased microtubule nucleation, centrosomal maturation involves the loss of proteins involved in interphase microtubule organization ...
    • Mitotic G2-G2/M phases, organism-specific biosystem (from REACTOME)
      Mitotic G2-G2/M phases, organism-specific biosystem
      Mitotic G2-G2/M phases
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
    • Recruitment of NuMA to mitotic centrosomes, organism-specific biosystem (from REACTOME)
      Recruitment of NuMA to mitotic centrosomes, organism-specific biosystemThe NuMA protein, which functions as a nuclear matrix protein in interphase (Merdes and Cleveland 1998), redistributes to the cytoplasm following nuclear envelope breakdown where it plays an essen...
    • Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystem (from REACTOME)
      Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystemThe mitotic spindle becomes established once centrosomes have migrated to opposite poles and the nuclear envelope has broken down. During this stage, interphase centrosomes mature into mitotic centro...
    • Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystem (from REACTOME)
      Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystemThe kinase activity of PLK1 is required for cell cycle progression as PLK1 phosphorylates and regulates a number of cellular proteins during mitosis. Centrosomic AURKA (Aurora A kinase), catalyticall...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ35902

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    G2/M transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    ciliary basal body docking TAS
    Traceable Author Statement
    more info
     
    protein localization to centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    pericentriolar material IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    spindle pole IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    protein NEDD1
    Names
    NEDD-1
    neural precursor cell expressed developmentally down-regulated protein 1

    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.

    mRNA and Protein(s)

    1. NM_001135175.1NP_001128647.1  protein NEDD1 isoform a

      See identical proteins and their annotated locations for NP_001128647.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AA236927, AC007564, AK290058, AL832466, BC027605
      Consensus CDS
      CCDS44955.1
      UniProtKB/Swiss-Prot
      Q8NHV4
      UniProtKB/TrEMBL
      A8K1Z3
      Related
      ENSP00000451211.1, OTTHUMP00000244133, ENST00000557644.5, OTTHUMT00000409803
      Conserved Domains (3) summary
      COG2319
      Location:10285
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:31306
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:88124
      7WD40; WD40 repeat [structural motif]
    2. NM_001135176.1NP_001128648.1  protein NEDD1 isoform b

      See identical proteins and their annotated locations for NP_001128648.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses a downstream translation initiation codon, compared to variant 1, resulting in an isoform (b) that has a shorter N-terminus, compared to isoform a. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AA236927, AK290058, AK315821, AL832466, DB074571
      Consensus CDS
      CCDS9063.1
      UniProtKB/Swiss-Prot
      Q8NHV4
      UniProtKB/TrEMBL
      A0A024RBE5, A8K1Z3
      Related
      ENSP00000404978.2, OTTHUMP00000244126, ENST00000429527.6, OTTHUMT00000409793
      Conserved Domains (3) summary
      COG2319
      Location:3278
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:24299
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:81117
      7WD40; WD40 repeat [structural motif]
    3. NM_001135177.1NP_001128649.1  protein NEDD1 isoform c

      See identical proteins and their annotated locations for NP_001128649.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses a downstream translation initiation codon, compared to variant 1, resulting in an isoform (c) that has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AA236927, AK290058, AK303656, AL832466, DB074571
      Consensus CDS
      CCDS44956.1
      UniProtKB/Swiss-Prot
      Q8NHV4
      UniProtKB/TrEMBL
      A8K1Z3
      Related
      ENSP00000411307.2, OTTHUMP00000244131, ENST00000411739.6, OTTHUMT00000409799
      Conserved Domains (3) summary
      COG2319
      Location:2220
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:2210
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:3471
      7WD40; WD40 repeat [structural motif]
    4. NM_152905.3NP_690869.1  protein NEDD1 isoform b

      See identical proteins and their annotated locations for NP_690869.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses a downstream translation initiation codon, compared to variant 1, resulting in an isoform (b) that has a shorter N-terminus, compared to isoform a. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AA236927, AK290058, AK315821, AL832466, DB074571
      Consensus CDS
      CCDS9063.1
      UniProtKB/Swiss-Prot
      Q8NHV4
      UniProtKB/TrEMBL
      A0A024RBE5, A8K1Z3
      Related
      ENSP00000266742.4, OTTHUMP00000244125, ENST00000266742.8, OTTHUMT00000409792
      Conserved Domains (3) summary
      COG2319
      Location:3278
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:24299
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:81117
      7WD40; WD40 repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      96907222..96953691
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018801.1XP_016874290.1  protein NEDD1 isoform X3

      Conserved Domains (3) summary
      COG2319
      Location:3163
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:2666
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:25163
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    2. XM_017018802.1XP_016874291.1  protein NEDD1 isoform X4

      Conserved Domains (3) summary
      COG2319
      Location:5140
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:5187
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:5140
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    3. XM_011537905.2XP_011536207.1  protein NEDD1 isoform X3

      See identical proteins and their annotated locations for XP_011536207.1

      Conserved Domains (3) summary
      COG2319
      Location:3163
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:2666
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:25163
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    4. XM_011537906.2XP_011536208.1  protein NEDD1 isoform X4

      Conserved Domains (3) summary
      COG2319
      Location:5140
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:5187
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:5140
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    5. XM_011537903.2XP_011536205.1  protein NEDD1 isoform X2

      See identical proteins and their annotated locations for XP_011536205.1

      UniProtKB/Swiss-Prot
      Q8NHV4
      Related
      ENSP00000407964.2, OTTHUMP00000244134, ENST00000457368.2, OTTHUMT00000409804
      Conserved Domains (3) summary
      COG2319
      Location:2220
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:2210
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:3471
      7WD40; WD40 repeat [structural motif]
    6. XM_005268644.2XP_005268701.1  protein NEDD1 isoform X1

      See identical proteins and their annotated locations for XP_005268701.1

      UniProtKB/Swiss-Prot
      Q8NHV4
      Conserved Domains (3) summary
      COG2319
      Location:10285
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:31306
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:88124
      7WD40; WD40 repeat [structural motif]
    7. XM_011537904.2XP_011536206.1  protein NEDD1 isoform X3

      See identical proteins and their annotated locations for XP_011536206.1

      Conserved Domains (3) summary
      COG2319
      Location:3163
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:2666
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:25163
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    8. XM_006719237.3XP_006719300.1  protein NEDD1 isoform X2

      See identical proteins and their annotated locations for XP_006719300.1

      UniProtKB/Swiss-Prot
      Q8NHV4
      Conserved Domains (3) summary
      COG2319
      Location:2220
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:2210
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:3471
      7WD40; WD40 repeat [structural motif]

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      97265952..97312431
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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