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    CEP128 centrosomal protein 128 [ Homo sapiens (human) ]

    Gene ID: 145508, updated on 9-Dec-2024

    Summary

    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 Golgi apparatus; microtubule cytoskeleton; and nuclear membrane. Part of centriolar subdistal appendage. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CEP128 in Genome Data Viewer
    Location:
    14q31.1
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (80476969..80959502, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (74687220..75179292, complement)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_152446.5NP_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:200373
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam10212
      Location:290530
      TTKRSYEDQ; Predicted coiled-coil domain-containing protein
      cl19219
      Location:676776
      DUF342; Protein of unknown function (DUF342)
      cl19511
      Location:184295
      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_2024_08

    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_047431023.1XP_047286979.1  centrosomal protein of 128 kDa isoform X4

      UniProtKB/TrEMBL
      G9BAV9
    2. XM_011536493.3XP_011534795.1  centrosomal protein of 128 kDa isoform X3

      UniProtKB/TrEMBL
      G9BAV9
      Conserved Domains (3) summary
      pfam05483
      Location:192828
      SCP-1; Synaptonemal complex protein 1 (SCP-1)
      pfam10212
      Location:290530
      TTKRSYEDQ; Predicted coiled-coil domain-containing protein
      cl19219
      Location:676776
      DUF342; Protein of unknown function (DUF342)
    3. XM_011536491.3XP_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:192828
      SCP-1; Synaptonemal complex protein 1 (SCP-1)
      pfam10212
      Location:290530
      TTKRSYEDQ; Predicted coiled-coil domain-containing protein
      cl19219
      Location:676776
      DUF342; Protein of unknown function (DUF342)
    4. XM_047431021.1XP_047286977.1  centrosomal protein of 128 kDa isoform X2

      UniProtKB/Swiss-Prot
      B9EK52, Q6ZU80, Q86X97, Q96ML4
      UniProtKB/TrEMBL
      G9BAV9
    5. XM_047431022.1XP_047286978.1  centrosomal protein of 128 kDa isoform X2

      UniProtKB/Swiss-Prot
      B9EK52, Q6ZU80, Q86X97, Q96ML4
      UniProtKB/TrEMBL
      G9BAV9
    6. XM_011536492.3XP_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:192828
      SCP-1; Synaptonemal complex protein 1 (SCP-1)
      pfam10212
      Location:290530
      TTKRSYEDQ; Predicted coiled-coil domain-containing protein
      cl19219
      Location:676776
      DUF342; Protein of unknown function (DUF342)
    7. XM_047431019.1XP_047286975.1  centrosomal protein of 128 kDa isoform X2

      UniProtKB/Swiss-Prot
      B9EK52, Q6ZU80, Q86X97, Q96ML4
      UniProtKB/TrEMBL
      G9BAV9
    8. XM_047431018.1XP_047286974.1  centrosomal protein of 128 kDa isoform X2

      UniProtKB/Swiss-Prot
      B9EK52, Q6ZU80, Q86X97, Q96ML4
      UniProtKB/TrEMBL
      G9BAV9
    9. XM_047431020.1XP_047286976.1  centrosomal protein of 128 kDa isoform X2

      UniProtKB/Swiss-Prot
      B9EK52, Q6ZU80, Q86X97, Q96ML4
      UniProtKB/TrEMBL
      G9BAV9
      Related
      ENSP00000281129.3, ENST00000281129.7
    10. XM_047431027.1XP_047286983.1  centrosomal protein of 128 kDa isoform X7

      UniProtKB/TrEMBL
      G9BAV9
    11. XM_017021043.2XP_016876532.1  centrosomal protein of 128 kDa isoform X9

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

      UniProtKB/TrEMBL
      G9BAV9
    13. XM_047431025.1XP_047286981.1  centrosomal protein of 128 kDa isoform X5

      UniProtKB/TrEMBL
      G9BAV9
    14. XM_011536495.3XP_011534797.1  centrosomal protein of 128 kDa isoform X8

      UniProtKB/TrEMBL
      G9BAV9
      Conserved Domains (3) summary
      pfam01442
      Location:200373
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam10212
      Location:290530
      TTKRSYEDQ; Predicted coiled-coil domain-containing protein
      cl19219
      Location:676776
      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_054375481.1XP_054231456.1  centrosomal protein of 128 kDa isoform X4

      UniProtKB/TrEMBL
      G9BAV9
    2. XM_054375480.1XP_054231455.1  centrosomal protein of 128 kDa isoform X3

      UniProtKB/TrEMBL
      G9BAV9
    3. XM_054375478.1XP_054231453.1  centrosomal protein of 128 kDa isoform X2

      UniProtKB/TrEMBL
      G9BAV9
    4. XM_054375479.1XP_054231454.1  centrosomal protein of 128 kDa isoform X2

      UniProtKB/TrEMBL
      G9BAV9
    5. XM_054375474.1XP_054231449.1  centrosomal protein of 128 kDa isoform X1

      UniProtKB/TrEMBL
      G9BAV9
    6. XM_054375476.1XP_054231451.1  centrosomal protein of 128 kDa isoform X2

      UniProtKB/TrEMBL
      G9BAV9
    7. XM_054375475.1XP_054231450.1  centrosomal protein of 128 kDa isoform X2

      UniProtKB/TrEMBL
      G9BAV9
    8. XM_054375477.1XP_054231452.1  centrosomal protein of 128 kDa isoform X2

      UniProtKB/TrEMBL
      G9BAV9
    9. XM_054375473.1XP_054231448.1  centrosomal protein of 128 kDa isoform X1

      UniProtKB/TrEMBL
      G9BAV9
    10. XM_054375484.1XP_054231459.1  centrosomal protein of 128 kDa isoform X7

      UniProtKB/TrEMBL
      G9BAV9
    11. XM_054375486.1XP_054231461.1  centrosomal protein of 128 kDa isoform X9

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

      UniProtKB/TrEMBL
      G9BAV9
    13. XM_054375482.1XP_054231457.1  centrosomal protein of 128 kDa isoform X5

      UniProtKB/TrEMBL
      G9BAV9
    14. XM_054375485.1XP_054231460.1  centrosomal protein of 128 kDa isoform X8

      UniProtKB/TrEMBL
      G9BAV9