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    CDC123 cell division cycle 123 [ Homo sapiens (human) ]

    Gene ID: 8872, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CDC123provided by HGNC
    Official Full Name
    cell division cycle 123provided by HGNC
    Primary source
    HGNC:HGNC:16827
    See related
    Ensembl:ENSG00000151465 MIM:617708; AllianceGenome:HGNC:16827
    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
    D123; C10orf7
    Summary
    Enables ATP binding activity and magnesium ion binding activity. Involved in eukaryotic translation initiation factor 2 complex assembly. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 28.2), appendix (RPKM 26.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CDC123 in Genome Data Viewer
    Location:
    10p14-p13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (12196188..12250589)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (12207199..12261555)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (12238187..12292588)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene SEC61 translocon subunit alpha 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:12232077-12232927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3037 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:12267705-12268640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:12268641-12269574 Neighboring gene nudix hydrolase 5 Neighboring gene FOXA motif-containing MPRA enhancer 241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2139 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:12306176-12306714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12365022-12365522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12365523-12366023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3039 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2143 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:12391861-12392360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2144 Neighboring gene RNA, 7SL, cytoplasmic 198, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12430241-12430740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:12430790-12431290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3041 Neighboring gene calcium/calmodulin dependent protein kinase ID Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3042 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:12490405-12491604 Neighboring gene RNA, U6atac small nuclear 39, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. CDC123 promotes Hepatocellular Carcinoma malignant progression by regulating CDKAL1. Wang Y, et al. Pathol Res Pract, 2024 Feb. PMID 38237400
    2. Expression study on D123 gene product: evidence for high positivity in testis. Onisto M, et al. Exp Cell Res, 1998 Aug 1. PMID 9683532
    3. An amino acid change in novel protein D123 is responsible for temperature-sensitive G1-phase arrest in a mutant of rat fibroblast line 3Y1. Okuda A, et al. Exp Cell Res, 1996 Mar 15. PMID 8601400
    4. Genetic variants at CDC123/CAMK1D and SPRY2 are associated with susceptibility to type 2 diabetes in the Japanese population. Imamura M, et al. Diabetologia, 2011 Dec. PMID 21909839
    5. CDC123/CAMK1D gene rs12779790 polymorphism and rs10811661 polymorphism upstream of the CDKN2A/2B gene in women with gestational diabetes. Tarnowski M, et al. J Perinatol, 2017 Apr. PMID 28079868

    See all (84) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CDC123 promotes Hepatocellular Carcinoma malignant progression by regulating CDKAL1.
      Title: CDC123 promotes Hepatocellular Carcinoma malignant progression by regulating CDKAL1.
    2. USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle.
      Title: USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle.
    3. Binding of human Cdc123 to eIF2gamma.
      Title: Binding of human Cdc123 to eIF2γ.
    4. There were no statistically significant differences in the distribution of CDC123/CAMK1D rs12779790 genotypes and alleles between women with gestational diabetes mellitus and healthy pregnant women.
      Title: CDC123/CAMK1D gene rs12779790 polymorphism and rs10811661 polymorphism upstream of the CDKN2A/2B gene in women with gestational diabetes.
    5. CDC123 may have a role in novel protein modifications
      Title: The eukaryotic translation initiation regulator CDC123 defines a divergent clade of ATP-grasp enzymes with a predicted role in novel protein modifications.
    6. Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HHEX), rs10811661 (CDKN2A/2B), rs4402960 (IGF2BP2), rs12779790 (CDC123/CAMK1D), and rs2237892 (KCNQ1).
      Title: Contribution of common genetic variation to the risk of type 2 diabetes in the Mexican Mestizo population.
    7. A significant association of rs10906115 in CDC123/CAMK1D and rs1359790 near SPRY2 was identified with type 2 diabetes in a Japanese population.
      Title: Genetic variants at CDC123/CAMK1D and SPRY2 are associated with susceptibility to type 2 diabetes in the Japanese population.
    8. Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Impact of single nucleotide polymorphisms and of clinical risk factors on new‐onset diabetes mellitus in HIV‐infected individuals.
    9. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
    10. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Variations in/nearby genes coding for JAZF1, TSPAN8/LGR5 and HHEX-IDE and risk of type 2 diabetes in Han Chinese.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.
    EBI GWAS Catalog
    Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
    EBI GWAS Catalog
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog
    Identification of new genetic risk variants for type 2 diabetes.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13863

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein folding chaperone ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in eukaryotic translation initiation factor 2 complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in eukaryotic translation initiation factor 2 complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein folding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    translation initiation factor eIF2 assembly protein
    Names
    HT-1080
    PZ32
    cell division cycle 123 homolog
    cell division cycle protein 123 homolog

    NCBI Reference Sequences (RefSeq)

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    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_006023.3 → NP_006014.2  translation initiation factor eIF2 assembly protein

      See identical proteins and their annotated locations for NP_006014.2

      Status: VALIDATED

      Source sequence(s)
      AW006077, BC009598, BP367374
      Consensus CDS
      CCDS7090.1
      UniProtKB/Swiss-Prot
      A8JZZ7, O75794, Q14107, Q5T0L4, Q5T0L5, Q5T0L7, Q5T0L8, Q5T0L9
      UniProtKB/TrEMBL
      X6RA30
      Related
      ENSP00000281141.4, ENST00000281141.9
      Conserved Domains (1) summary
      pfam07065
      Location:14 → 314
      D123; D123

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      12196188..12250589
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005252638.5 → XP_005252695.1  translation initiation factor eIF2 assembly protein isoform X1

      UniProtKB/TrEMBL
      X6RA30
      Conserved Domains (1) summary
      pfam07065
      Location:14 → 282
      D123; D123

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      12207199..12261555
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367099.1 → XP_054223074.1  translation initiation factor eIF2 assembly protein isoform X2

      UniProtKB/Swiss-Prot
      A8JZZ7, O75794, Q14107, Q5T0L4, Q5T0L5, Q5T0L7, Q5T0L8, Q5T0L9

    2. XM_054367100.1 → XP_054223075.1  translation initiation factor eIF2 assembly protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75794.1 GenPept UniProtKB/Swiss-Prot:O75794

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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