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

Gene ID: 121441, updated on 3-Apr-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 be involved in protein localization to centrosome. Located in centrosome; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 11.1), lymph node (RPKM 7.2) and 25 other tissues See more
Orthologs
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Genomic context

Location:
12q23.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (96907257..96953780)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (96881012..96927469)
105.20220307 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
 
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
 
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
 
is_active_in pericentriolar material IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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

  2. XM_054371082.1XP_054227057.1  protein NEDD1 isoform X2

  3. XM_054371083.1XP_054227058.1  protein NEDD1 isoform X2

  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