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CEP350 centrosomal protein 350 [ Homo sapiens (human) ]

Gene ID: 9857, updated on 5-Aug-2022

Summary

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
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Genomic context

See CEP350 in Genome Data Viewer
Location:
1q25.2
Exon count:
41
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (179954810..180114875)
110 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 RNA, 7SL, cytoplasmic 230, pseudogene Neighboring gene uncharacterized LOC101928933 Neighboring gene ribosomal protein SA pseudogene 16 Neighboring gene ribosomal protein S24 pseudogene 5 Neighboring gene uncharacterized LOC105371636 Neighboring gene quiescin sulfhydryl oxidase 1

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_014810.5NP_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
    Q5VT06, Q8WY20
    Related
    ENSP00000356579.3, ENST00000367607.8
    Conserved Domains (2) summary
    pfam01302
    Location:25002563
    CAP_GLY; CAP-Gly domain
    pfam02463
    Location:16842394
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047435442.1XP_047291398.1  centrosome-associated protein 350 isoform X22

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

    UniProtKB/Swiss-Prot
    Q8WY20
  18. XM_047435403.1XP_047291359.1  centrosome-associated protein 350 isoform X13

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

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

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

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

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

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

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

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

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