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

Summary

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, Dec 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

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CDC123 promotes Hepatocellular Carcinoma malignant progression by regulating CDKAL1.
Title: CDC123 promotes Hepatocellular Carcinoma malignant progression by regulating CDKAL1.
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.
Binding of human Cdc123 to eIF2gamma.
Title: Binding of human Cdc123 to eIF2γ.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of new genetic risk variants for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D8S2279 (e-PCR)
- UniSTS:473907

WI-11468 (e-PCR)
- UniSTS:18246

D1S1423 (e-PCR)
- UniSTS:149619

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)

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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

12196188..12250589

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060934.1 Alternate T2T-CHM13v2.0

Range

12207199..12261555

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

X6RA30
XM_054367100.1 → XP_054223075.1 translation initiation factor eIF2 assembly protein isoform X1

UniProtKB/TrEMBL

X6RA30