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CEP128 centrosomal protein 128 [ Homo sapiens (human) ]

Gene ID: 145508, updated on 3-Apr-2024

Summary

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Official Symbol
CEP128provided by HGNC
Official Full Name
centrosomal protein 128provided by HGNC
Primary source
HGNC:HGNC:20359
See related
Ensembl:ENSG00000100629 MIM:620667; AllianceGenome:HGNC:20359
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
C14orf61; LEDP/132; C14orf145
Summary
Involved in protein localization. Located in centriole and spindle pole. Part of centriolar subdistal appendage. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
14q31.1
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (80476969..80959502, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (74687220..75179292, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (80962822..81408082, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370593 Neighboring gene DIO2 antisense RNA 1 Neighboring gene iodothyronine deiodinase 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:80930624-80931315 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_37660 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_37671 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_37742 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:81439163-81439664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:81439665-81440164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5983 Neighboring gene GPRASP3 pseudogene 1 Neighboring gene thyroid stimulating hormone receptor Neighboring gene ribosomal protein L17 pseudogene 3

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. CEP128 is a crucial risk locus for autoimmune thyroid diseases. Wang B, et al. Mol Cell Endocrinol, 2019 Jan 15. PMID 30393005
  2. Cep128 associates with Odf2 to form the subdistal appendage of the centriole. Kashihara H, et al. Genes Cells, 2019 Mar. PMID 30623524
  3. Downregulation of Circ-CEP128 Enhances the Paclitaxel Sensitivity of Cervical Cancer Through Regulating miR-432-5p/MCL1. Zhao Y, et al. Biochem Genet, 2022 Dec. PMID 35391656
  4. Circular RNA CEP128 promotes bladder cancer progression by regulating Mir-145-5p/Myd88 via MAPK signaling pathway. Sun M, et al. Int J Cancer, 2019 Oct 15. PMID 30939216
  5. 3D-structured illumination microscopy provides novel insight into architecture of human centrosomes. Sonnen KF, et al. Biol Open, 2012 Oct 15. PMID 23213374, Free PMC Article

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Modulation Effects of the CEP128 Gene on Radiotherapy-Related Brain Injury: A Longitudinal Structural Study Using Multi-Parametric Brain MR Images.
    Title: Modulation Effects of the CEP128 Gene on Radiotherapy-Related Brain Injury: A Longitudinal Structural Study Using Multi-Parametric Brain MR Images.
  2. Downregulation of Circ-CEP128 Enhances the Paclitaxel Sensitivity of Cervical Cancer Through Regulating miR-432-5p/MCL1.
    Title: Downregulation of Circ-CEP128 Enhances the Paclitaxel Sensitivity of Cervical Cancer Through Regulating miR-432-5p/MCL1.
  3. Overexpression of circCEP128 promoted bladder cancer progression through modulating miR-145-5p and MYD88 via MAKP signaling pathway.
    Title: Circular RNA CEP128 promotes bladder cancer progression by regulating Mir-145-5p/Myd88 via MAPK signaling pathway.
  4. CEP128 loss affects TGF-beta1-induced phosphorylation of multiple proteins that regulate cilium-associated vesicle trafficking.
    Title: CEP128 Localizes to the Subdistal Appendages of the Mother Centriole and Regulates TGF-β/BMP Signaling at the Primary Cilium.
  5. This study highlight the crucial role of CEP128 in the pathogenesis of Grave's disease.
    Title: CEP128 is a crucial risk locus for autoimmune thyroid diseases.
  6. Cep128 deletion decreased the stability of centriolar microtubules. Cep128 associates with Odf2.
    Title: Cep128 associates with Odf2 to form the subdistal appendage of the centriole.
  7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
  8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

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
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in protein localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in sperm flagellum assembly IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
part_of centriolar subdistal appendage IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in centriole IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centriole IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
  
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
  
is_active_in spindle pole IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in spindle pole IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
centrosomal protein of 128 kDa
Names
centrosomal protein 128kDa
lens epithelium-derived protein

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_152446.5 → NP_689659.2  centrosomal protein of 128 kDa

    See identical proteins and their annotated locations for NP_689659.2

    Status: VALIDATED

    Source sequence(s)
    AC010072, AC018513, AC022404, KF455965
    Consensus CDS
    CCDS32130.1
    UniProtKB/Swiss-Prot
    B9EK52, Q6ZU80, Q86X97, Q96ML4
    UniProtKB/TrEMBL
    G9BAV9
    Related
    ENSP00000451162.1, ENST00000555265.6
    Conserved Domains (4) summary
    pfam01442
    Location:200 → 373
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam10212
    Location:290 → 530
    TTKRSYEDQ; Predicted coiled-coil domain-containing protein
    cl19219
    Location:676 → 776
    DUF342; Protein of unknown function (DUF342)
    cl19511
    Location:184 → 295
    DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)

RNA

  1. NR_157142.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC010072, AC018513, AC022404, KF455965

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    80476969..80959502 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431023.1 → XP_047286979.1  centrosomal protein of 128 kDa isoform X4

  2. XM_011536493.3 → XP_011534795.1  centrosomal protein of 128 kDa isoform X3

    UniProtKB/TrEMBL
    G9BAV9
    Conserved Domains (3) summary
    pfam05483
    Location:192 → 828
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    pfam10212
    Location:290 → 530
    TTKRSYEDQ; Predicted coiled-coil domain-containing protein
    cl19219
    Location:676 → 776
    DUF342; Protein of unknown function (DUF342)

  3. XM_011536491.3 → XP_011534793.1  centrosomal protein of 128 kDa isoform X1

    See identical proteins and their annotated locations for XP_011534793.1

    UniProtKB/TrEMBL
    G9BAV9
    Conserved Domains (3) summary
    pfam05483
    Location:192 → 828
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    pfam10212
    Location:290 → 530
    TTKRSYEDQ; Predicted coiled-coil domain-containing protein
    cl19219
    Location:676 → 776
    DUF342; Protein of unknown function (DUF342)

  4. XM_047431021.1 → XP_047286977.1  centrosomal protein of 128 kDa isoform X2

    UniProtKB/Swiss-Prot
    B9EK52, Q6ZU80, Q86X97, Q96ML4

  5. XM_047431022.1 → XP_047286978.1  centrosomal protein of 128 kDa isoform X2

    UniProtKB/Swiss-Prot
    B9EK52, Q6ZU80, Q86X97, Q96ML4

  6. XM_011536492.3 → XP_011534794.1  centrosomal protein of 128 kDa isoform X1

    See identical proteins and their annotated locations for XP_011534794.1

    UniProtKB/TrEMBL
    G9BAV9
    Conserved Domains (3) summary
    pfam05483
    Location:192 → 828
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    pfam10212
    Location:290 → 530
    TTKRSYEDQ; Predicted coiled-coil domain-containing protein
    cl19219
    Location:676 → 776
    DUF342; Protein of unknown function (DUF342)

  7. XM_047431019.1 → XP_047286975.1  centrosomal protein of 128 kDa isoform X2

    UniProtKB/Swiss-Prot
    B9EK52, Q6ZU80, Q86X97, Q96ML4

  8. XM_047431018.1 → XP_047286974.1  centrosomal protein of 128 kDa isoform X2

    UniProtKB/Swiss-Prot
    B9EK52, Q6ZU80, Q86X97, Q96ML4

  9. XM_047431020.1 → XP_047286976.1  centrosomal protein of 128 kDa isoform X2

    UniProtKB/Swiss-Prot
    B9EK52, Q6ZU80, Q86X97, Q96ML4
    Related
    ENSP00000281129.3, ENST00000281129.7

  10. XM_047431027.1 → XP_047286983.1  centrosomal protein of 128 kDa isoform X7

  11. XM_017021043.2 → XP_016876532.1  centrosomal protein of 128 kDa isoform X9

  12. XM_047431026.1 → XP_047286982.1  centrosomal protein of 128 kDa isoform X6

  13. XM_047431025.1 → XP_047286981.1  centrosomal protein of 128 kDa isoform X5

  14. XM_011536495.3 → XP_011534797.1  centrosomal protein of 128 kDa isoform X8

    UniProtKB/TrEMBL
    G9BAV9
    Conserved Domains (3) summary
    pfam01442
    Location:200 → 373
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam10212
    Location:290 → 530
    TTKRSYEDQ; Predicted coiled-coil domain-containing protein
    cl19219
    Location:676 → 776
    DUF342; Protein of unknown function (DUF342)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    74687220..75179292 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375481.1 → XP_054231456.1  centrosomal protein of 128 kDa isoform X4

  2. XM_054375480.1 → XP_054231455.1  centrosomal protein of 128 kDa isoform X3

  3. XM_054375478.1 → XP_054231453.1  centrosomal protein of 128 kDa isoform X2

  4. XM_054375479.1 → XP_054231454.1  centrosomal protein of 128 kDa isoform X2

  5. XM_054375474.1 → XP_054231449.1  centrosomal protein of 128 kDa isoform X1

  6. XM_054375476.1 → XP_054231451.1  centrosomal protein of 128 kDa isoform X2

  7. XM_054375475.1 → XP_054231450.1  centrosomal protein of 128 kDa isoform X2

  8. XM_054375477.1 → XP_054231452.1  centrosomal protein of 128 kDa isoform X2

  9. XM_054375473.1 → XP_054231448.1  centrosomal protein of 128 kDa isoform X1

  10. XM_054375484.1 → XP_054231459.1  centrosomal protein of 128 kDa isoform X7

  11. XM_054375486.1 → XP_054231461.1  centrosomal protein of 128 kDa isoform X9

  12. XM_054375483.1 → XP_054231458.1  centrosomal protein of 128 kDa isoform X6

  13. XM_054375482.1 → XP_054231457.1  centrosomal protein of 128 kDa isoform X5

  14. XM_054375485.1 → XP_054231460.1  centrosomal protein of 128 kDa isoform X8

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZU80.2 GenPept UniProtKB/Swiss-Prot:Q6ZU80

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