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    CEP350 centrosomal protein 350 [ Homo sapiens (human) ]

    Gene ID: 9857, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CEP350provided by HGNC
    Official Full Name
    centrosomal protein 350provided by HGNC
    Primary source
    HGNC:HGNC:24238
    See related
    Ensembl:ENSG00000135837 MIM:617870; AllianceGenome:HGNC:24238
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GM133; CAP350
    Summary
    The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 13.0), lymph node (RPKM 5.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CEP350 in Genome Data Viewer
    Location:
    1q25.2
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (179954810..180114875)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (179310482..179470599)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (179923945..180084010)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene torsin 1A interacting protein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:179877971-179878173 Neighboring gene RNA, 7SL, cytoplasmic 230, pseudogene Neighboring gene uncharacterized LOC101928933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2158 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:179923641-179924142 Neighboring gene ribosomal protein SA pseudogene 16 Neighboring gene ribosomal protein S24 pseudogene 5 Neighboring gene MPRA-validated peak480 silencer Neighboring gene uncharacterized LOC105371636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2159 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180134845-180135502 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180135503-180136160 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180136161-180136816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180136817-180137474 Neighboring gene quiescin sulfhydryl oxidase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:180162034-180162705 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1382 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1383

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels.
      Title: CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels.
    2. Results from a study on gene variability markers in early-stage human embryos shows that CEP350 is a putative variability marker for the 3-day, 8-cell embryo stage.
      Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
    3. Expression of cancer-specific glycan epitopes represents an excellent opportunity for diagnostics and potentially specific detection of tumors. Here, we report four proteins (LIFR, CE350, VP13A, HPT) found in sera from pancreatic cancer patients carrying aberrant glycan structures as compared to those of controls.
      Title: Glycosylation Changes in Serum Proteins Identify Patients with Pancreatic Cancer.
    4. CEP350 is a tumor-suppressor gene in human melanoma.
      Title: Transposon mutagenesis identifies genetic drivers of Braf(V600E) melanoma.
    5. 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.
    6. CAP350 specifically stabilises Golgi-associated microtubules and in this way participates in the maintenance of a continuous pericentrosomal Golgi ribbon.
      Title: Centrosomal CAP350 protein stabilises microtubules associated with the Golgi complex.
    7. CAP350 interacts directly with FOP (FGFR1 oncogene partner) to form a centrosomal complex required for microtubule anchoring.
      Title: A complex of two centrosomal proteins, CAP350 and FOP, cooperates with EB1 in microtubule anchoring.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38282, FLJ44058, KIAA0480

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in microtubule anchoring IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization to centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    centrosome-associated protein 350
    Names
    centrosomal protein 350kDa

    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_014810.5 → NP_055625.4  centrosome-associated protein 350

      See identical proteins and their annotated locations for NP_055625.4

      Status: REVIEWED

      Source sequence(s)
      AF287356, AK026986, AL390718, BC033619, BM675467, DA716735, DB072323
      Consensus CDS
      CCDS1336.1
      UniProtKB/Swiss-Prot
      O75068, Q5VT06, Q8TDK3, Q8WY20
      UniProtKB/TrEMBL
      A0AAQ5BGJ2
      Related
      ENSP00000356579.3, ENST00000367607.8
      Conserved Domains (2) summary
      pfam01302
      Location:2500 → 2563
      CAP_GLY; CAP-Gly domain
      pfam02463
      Location:1684 → 2394
      SMC_N; RecF/RecN/SMC N terminal domain

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      179954810..180114875
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435442.1 → XP_047291398.1  centrosome-associated protein 350 isoform X22

    2. XM_047435459.1 → XP_047291415.1  centrosome-associated protein 350 isoform X25

    3. XM_047435400.1 → XP_047291356.1  centrosome-associated protein 350 isoform X10

    4. XM_047435392.1 → XP_047291348.1  centrosome-associated protein 350 isoform X7

    5. XM_047435433.1 → XP_047291389.1  centrosome-associated protein 350 isoform X20

    6. XM_047435445.1 → XP_047291401.1  centrosome-associated protein 350 isoform X23

    7. XM_047435436.1 → XP_047291392.1  centrosome-associated protein 350 isoform X21

    8. XM_047435455.1 → XP_047291411.1  centrosome-associated protein 350 isoform X24

    9. XM_047435399.1 → XP_047291355.1  centrosome-associated protein 350 isoform X9

    10. XM_047435466.1 → XP_047291422.1  centrosome-associated protein 350 isoform X26

    11. XM_047435376.1 → XP_047291332.1  centrosome-associated protein 350 isoform X1

    12. XM_047435378.1 → XP_047291334.1  centrosome-associated protein 350 isoform X3

    13. XM_047435382.1 → XP_047291338.1  centrosome-associated protein 350 isoform X4

    14. XM_047435384.1 → XP_047291340.1  centrosome-associated protein 350 isoform X5

    15. XM_047435387.1 → XP_047291343.1  centrosome-associated protein 350 isoform X6

    16. XM_047435401.1 → XP_047291357.1  centrosome-associated protein 350 isoform X11

    17. XM_047435406.1 → XP_047291362.1  centrosome-associated protein 350 isoform X15

      UniProtKB/Swiss-Prot
      O75068, Q5VT06, Q8TDK3, Q8WY20

    18. XM_047435403.1 → XP_047291359.1  centrosome-associated protein 350 isoform X13

    19. XM_047435423.1 → XP_047291379.1  centrosome-associated protein 350 isoform X17

    20. XM_047435394.1 → XP_047291350.1  centrosome-associated protein 350 isoform X8

    21. XM_047435404.1 → XP_047291360.1  centrosome-associated protein 350 isoform X14

    22. XM_047435429.1 → XP_047291385.1  centrosome-associated protein 350 isoform X18

    23. XM_047435377.1 → XP_047291333.1  centrosome-associated protein 350 isoform X2

    24. XM_047435402.1 → XP_047291358.1  centrosome-associated protein 350 isoform X12

    25. XM_047435430.1 → XP_047291386.1  centrosome-associated protein 350 isoform X19

    26. XM_047435414.1 → XP_047291370.1  centrosome-associated protein 350 isoform X16

      UniProtKB/TrEMBL
      Q5T2X4
      Related
      ENSP00000401608.2, ENST00000417046.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      179310482..179470599
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339844.1 → XP_054195819.1  centrosome-associated protein 350 isoform X22

    2. XM_054339847.1 → XP_054195822.1  centrosome-associated protein 350 isoform X25

    3. XM_054339832.1 → XP_054195807.1  centrosome-associated protein 350 isoform X10

    4. XM_054339829.1 → XP_054195804.1  centrosome-associated protein 350 isoform X7

    5. XM_054339842.1 → XP_054195817.1  centrosome-associated protein 350 isoform X20

    6. XM_054339845.1 → XP_054195820.1  centrosome-associated protein 350 isoform X23

    7. XM_054339843.1 → XP_054195818.1  centrosome-associated protein 350 isoform X21

    8. XM_054339846.1 → XP_054195821.1  centrosome-associated protein 350 isoform X24

    9. XM_054339831.1 → XP_054195806.1  centrosome-associated protein 350 isoform X9

    10. XM_054339848.1 → XP_054195823.1  centrosome-associated protein 350 isoform X26

    11. XM_054339823.1 → XP_054195798.1  centrosome-associated protein 350 isoform X1

    12. XM_054339825.1 → XP_054195800.1  centrosome-associated protein 350 isoform X3

    13. XM_054339826.1 → XP_054195801.1  centrosome-associated protein 350 isoform X4

    14. XM_054339827.1 → XP_054195802.1  centrosome-associated protein 350 isoform X5

    15. XM_054339828.1 → XP_054195803.1  centrosome-associated protein 350 isoform X6

    16. XM_054339833.1 → XP_054195808.1  centrosome-associated protein 350 isoform X11

    17. XM_054339837.1 → XP_054195812.1  centrosome-associated protein 350 isoform X15

    18. XM_054339835.1 → XP_054195810.1  centrosome-associated protein 350 isoform X13

    19. XM_054339839.1 → XP_054195814.1  centrosome-associated protein 350 isoform X17

    20. XM_054339830.1 → XP_054195805.1  centrosome-associated protein 350 isoform X8

    21. XM_054339836.1 → XP_054195811.1  centrosome-associated protein 350 isoform X14

    22. XM_054339840.1 → XP_054195815.1  centrosome-associated protein 350 isoform X18

    23. XM_054339824.1 → XP_054195799.1  centrosome-associated protein 350 isoform X2

    24. XM_054339834.1 → XP_054195809.1  centrosome-associated protein 350 isoform X12

    25. XM_054339841.1 → XP_054195816.1  centrosome-associated protein 350 isoform X19

    26. XM_054339838.1 → XP_054195813.1  centrosome-associated protein 350 isoform X16

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VT06.1 GenPept UniProtKB/Swiss-Prot:Q5VT06

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