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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
    mouse all
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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

    Gene LinkOut

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

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