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NEDD1 NEDD1 gamma-tubulin ring complex targeting factor [ Homo sapiens (human) ]

Gene ID: 121441, updated on 17-Jun-2019

Summary

Official Symbol
NEDD1provided by HGNC
Official Full Name
NEDD1 gamma-tubulin ring complex targeting factorprovided by HGNC
Primary source
HGNC:HGNC:7723
See related
Ensembl:ENSG00000139350 MIM:600372
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
Expression
Ubiquitous expression in testis (RPKM 11.1), lymph node (RPKM 7.2) and 25 other tissues See more
Orthologs

Genomic context

See NEDD1 in Genome Data Viewer
Location:
12q23.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (96907222..96953780)
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 Sharpr-MPRA regulatory region 2123 Neighboring gene cilia and flagella associated protein 54 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 33 Neighboring gene VISTA enhancer hs1341 Neighboring gene tRNA-Gln (anticodon TTG) 9-1

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?

Phenotypes

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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-plasma membrane docking TAS
Traceable Author Statement
more info
 
protein localization to centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
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
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
pericentriolar material IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spindle pole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protein NEDD1
Names
NEDD-1
neural precursor cell expressed developmentally down-regulated protein 1
neural precursor cell expressed, developmentally down-regulated 1
tubulin gamma complex associated protein 7

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.

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, ENST00000557644.5
    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_001135176.2NP_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, AC013417, AK290058, AK315821, AL832466
    Consensus CDS
    CCDS9063.1
    UniProtKB/Swiss-Prot
    Q8NHV4
    UniProtKB/TrEMBL
    A0A024RBE5, A8K1Z3
    Related
    ENSP00000404978.2, ENST00000429527.6
    Conserved Domains (2) summary
    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_001135177.2NP_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, AC013417, AK290058, AK303656, AL832466
    Consensus CDS
    CCDS44956.1
    UniProtKB/Swiss-Prot
    Q8NHV4
    UniProtKB/TrEMBL
    A8K1Z3
    Related
    ENSP00000411307.2, ENST00000411739.6
    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_152905.4NP_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, AC013417, AK290058, AK315821, AL832466
    Consensus CDS
    CCDS9063.1
    UniProtKB/Swiss-Prot
    Q8NHV4
    UniProtKB/TrEMBL
    A0A024RBE5, A8K1Z3
    Related
    ENSP00000266742.4, ENST00000266742.8
    Conserved Domains (2) summary
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    96907222..96953780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018801.2XP_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_017018802.2XP_016874291.1  protein NEDD1 isoform X4

    Conserved Domains (2) summary
    sd00039
    Location:5187
    7WD40; WD40 repeat [structural motif]
    cl25539
    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_011537905.3XP_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_011537906.3XP_011536208.1  protein NEDD1 isoform X4

    Conserved Domains (2) summary
    sd00039
    Location:5187
    7WD40; WD40 repeat [structural motif]
    cl25539
    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_011537903.3XP_011536205.1  protein NEDD1 isoform X2

    See identical proteins and their annotated locations for XP_011536205.1

    UniProtKB/Swiss-Prot
    Q8NHV4
    Related
    ENSP00000407964.2, ENST00000457368.2
    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_011537904.3XP_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_024448835.1XP_024304603.1  protein NEDD1 isoform X4

    Conserved Domains (2) summary
    sd00039
    Location:5187
    7WD40; WD40 repeat [structural motif]
    cl25539
    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 ...
  9. XM_006719237.4XP_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]
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