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CEP350 centrosomal protein 350 [ Homo sapiens (human) ]

Gene ID: 9857, updated on 3-Apr-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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Location:
1q25.2
Exon count:
41
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (179954810..180114875)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (179310482..179470599)
105.20220307 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
  • 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. Centrosomal CAP350 protein stabilises microtubules associated with the Golgi complex. Hoppeler-Lebel A, et al. J Cell Sci, 2007 Sep 15. PMID 17878239
  2. Transposon mutagenesis identifies genetic drivers of Braf(V600E) melanoma. Mann MB, et al. Nat Genet, 2015 May. PMID 25848750, Free PMC Article
  3. A complex of two centrosomal proteins, CAP350 and FOP, cooperates with EB1 in microtubule anchoring. Yan X, et al. Mol Biol Cell, 2006 Feb. PMID 16314388, Free PMC Article
  4. CEP19 cooperates with FOP and CEP350 to drive early steps in the ciliogenesis programme. Mojarad BA, et al. Open Biol, 2017 Jun. PMID 28659385, Free PMC Article
  5. Glycosylation Changes in Serum Proteins Identify Patients with Pancreatic Cancer. Drabik A, et al. J Proteome Res, 2017 Apr 7. PMID 28244758

See all (79) citations in PubMed

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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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
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)

Genotypes

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 IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in centriole 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
    A0A994J5T9
    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_2023_10

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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