U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

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

    Gene ID: 121441, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:7723
    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
    Summary
    Predicted to enable gamma-tubulin binding activity. Predicted to be involved in microtubule nucleation and mitotic cell cycle. Located in centrosome; cytosol; and nuclear lumen. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 11.1), lymph node (RPKM 7.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NEDD1 in Genome Data Viewer
    Location:
    12q23.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (96907257..96953780)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (96881012..96927469)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (97301035..97347558)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2123 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:96894427-96895626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4746 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:96915910-96916410 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:96916411-96916911 Neighboring gene cilia and flagella associated protein 54 Neighboring gene MPRA-validated peak1903 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:97122708-97123302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6836 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 33 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4748 Neighboring gene uncharacterized LOC124902992 Neighboring gene uncharacterized LOC124902993 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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Common genetic variants on 1p13.2 associate with risk of autism.
    EBI GWAS Catalog
    Genetic variants associated with breast size also influence breast cancer risk.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ35902

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables gamma-tubulin 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 division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in microtubule nucleation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in pericentriolar material IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in spindle pole IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    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)

    NEW Try the new Transcript table

    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_001135175.2NP_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, AC013417, AK290058, AL832466, BC027605
      Consensus CDS
      CCDS44955.1
      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
      B0AZN0, B4E145, G3V3F1, Q8NA30, Q8NHV4
      UniProtKB/TrEMBL
      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/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
      B0AZN0, B4E145, G3V3F1, Q8NA30, Q8NHV4
      UniProtKB/TrEMBL
      A8K1Z3
      Related
      ENSP00000266742.5, ENST00000266742.9
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      96907257..96953780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268644.3XP_005268701.1  protein NEDD1 isoform X1

      See identical proteins and their annotated locations for XP_005268701.1

      UniProtKB/TrEMBL
      A8K1Z3
      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. XM_006719237.5XP_006719300.1  protein NEDD1 isoform X2

      See identical proteins and their annotated locations for XP_006719300.1

      UniProtKB/TrEMBL
      A8K1Z3
      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]
    3. XM_011537903.4XP_011536205.1  protein NEDD1 isoform X2

      See identical proteins and their annotated locations for XP_011536205.1

      UniProtKB/TrEMBL
      A8K1Z3
      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]
    4. XM_047428288.1XP_047284244.1  protein NEDD1 isoform X3

    5. XM_047428289.1XP_047284245.1  protein NEDD1 isoform X4

    6. XM_047428290.1XP_047284246.1  protein NEDD1 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      96881012..96927469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371081.1XP_054227056.1  protein NEDD1 isoform X1

      UniProtKB/TrEMBL
      A8K1Z3
    2. XM_054371082.1XP_054227057.1  protein NEDD1 isoform X2

      UniProtKB/TrEMBL
      A8K1Z3
    3. XM_054371083.1XP_054227058.1  protein NEDD1 isoform X2

      UniProtKB/TrEMBL
      A8K1Z3
    4. XM_054371084.1XP_054227059.1  protein NEDD1 isoform X3

    5. XM_054371085.1XP_054227060.1  protein NEDD1 isoform X4

    6. XM_054371086.1XP_054227061.1  protein NEDD1 isoform X5