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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
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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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