Human Gene CEP350 (ENST00000367607.8_7) from GENCODE V47lift37
  Description: centrosomal protein 350 (from RefSeq NM_014810.5)
Gencode Transcript: ENST00000367607.8_7
Gencode Gene: ENSG00000135837.18_15
Transcript (Including UTRs)
   Position: hg19 chr1:179,923,945-180,084,010 Size: 160,066 Total Exon Count: 38 Strand: +
Coding Region
   Position: hg19 chr1:179,955,317-180,080,296 Size: 124,980 Coding Exon Count: 37 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:179,923,945-180,084,010)mRNA (may differ from genome)Protein (3117 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CE350_HUMAN
DESCRIPTION: RecName: Full=Centrosome-associated protein 350; Short=Cep350; AltName: Full=Centrosome-associated protein of 350 kDa;
FUNCTION: Plays an essential role in centriole growth by stabilizing a procentriolar seed composed of at least, SASS6 and CENPJ. Required for anchoring microtubules to the centrosomes and for the integrity of the microtubule network. Recruits PPARA to discrete subcellular compartments and thereby modulates PPARA activity.
SUBUNIT: Part of a ternary complex composed of SASS6, CENPJ and CEP350. Part of a ternary complex that contains CEP350, FGFR1OP and MAPRE1. Interacts directly with FGFR1OP via its C-terminus. Interacts with NR1H3, PPARA, PPARD and PPARG. Interacts directly with microtubules. Interacts with the fusion protein FGFR1OP- FGFR1, and by doing so recruits and activates PI3K and PLC-gamma.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle. Nucleus. Note=Associated with mitotic spindles. Nuclear, in discrete foci. Associated with intermediate filaments. Also present in the pericentrosomal area.
TISSUE SPECIFICITY: Detected in heart, brain, skeletal muscle, testis, placenta, lung, liver, kidney and pancreas.
PTM: Phosphorylated during mitosis.
SIMILARITY: Contains 1 CAP-Gly domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.86 RPKM in Testis
Total median expression: 221.34 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -185.30346-0.536 Picture PostScript Text
3' UTR -934.103714-0.252 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000938 - CAP-Gly_domain

Pfam Domains:
PF01302 - CAP-Gly domain
PF14309 - Domain of unknown function (DUF4378)

SCOP Domains:
74924 - Cap-Gly domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2COZ - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q5VT06
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008017 microtubule binding

Biological Process:
GO:0034453 microtubule anchoring

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0005815 microtubule organizing center
GO:0005819 spindle
GO:0005856 cytoskeleton
GO:0016020 membrane
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AK095601 - Homo sapiens cDNA FLJ38282 fis, clone FCBBF3006288.
AF287356 - Homo sapiens centrosome-associated protein 350 mRNA, complete cds.
BC172424 - Synthetic construct Homo sapiens clone IMAGE:100069118, MGC:199129 CEP350 protein (CEP350) mRNA, encodes complete protein.
JD217649 - Sequence 198673 from Patent EP1572962.
JD211292 - Sequence 192316 from Patent EP1572962.
JD407418 - Sequence 388442 from Patent EP1572962.
JD196248 - Sequence 177272 from Patent EP1572962.
JD478895 - Sequence 459919 from Patent EP1572962.
AF387614 - Homo sapiens gm133 mRNA, partial cds.
AK000704 - Homo sapiens cDNA FLJ20697 fis, clone KAIA2443, highly similar to AB007949 Homo sapiens mRNA for KIAA0480 protein.
AK026986 - Homo sapiens cDNA: FLJ23333 fis, clone HEP12807.
BC048310 - Homo sapiens centrosomal protein 350kDa, mRNA (cDNA clone IMAGE:4419326).
BC033619 - Homo sapiens centrosomal protein 350kDa, mRNA (cDNA clone IMAGE:5108444), containing frame-shift errors.
BC017847 - Homo sapiens centrosomal protein 350kDa, mRNA (cDNA clone IMAGE:4288585), partial cds.
AB007949 - Homo sapiens mRNA for KIAA0480 protein, partial cds.
AK126046 - Homo sapiens cDNA FLJ44058 fis, clone TESTI4035063.
AK022813 - Homo sapiens cDNA FLJ12751 fis, clone NT2RP2001173, highly similar to Homo sapiens mRNA for KIAA0480 protein.
JD140752 - Sequence 121776 from Patent EP1572962.
JD090347 - Sequence 71371 from Patent EP1572962.
JD402102 - Sequence 383126 from Patent EP1572962.
JD254970 - Sequence 235994 from Patent EP1572962.
JD487462 - Sequence 468486 from Patent EP1572962.
JD557080 - Sequence 538104 from Patent EP1572962.
JD114284 - Sequence 95308 from Patent EP1572962.
JD483538 - Sequence 464562 from Patent EP1572962.
JD305329 - Sequence 286353 from Patent EP1572962.
JD339103 - Sequence 320127 from Patent EP1572962.
JD353827 - Sequence 334851 from Patent EP1572962.
JD295173 - Sequence 276197 from Patent EP1572962.
JD250460 - Sequence 231484 from Patent EP1572962.
JD530857 - Sequence 511881 from Patent EP1572962.
JD379044 - Sequence 360068 from Patent EP1572962.
JD429898 - Sequence 410922 from Patent EP1572962.
JD184304 - Sequence 165328 from Patent EP1572962.
JD561766 - Sequence 542790 from Patent EP1572962.
JD301390 - Sequence 282414 from Patent EP1572962.
JD064462 - Sequence 45486 from Patent EP1572962.
JD515636 - Sequence 496660 from Patent EP1572962.
JD429929 - Sequence 410953 from Patent EP1572962.
JD506968 - Sequence 487992 from Patent EP1572962.
JD156584 - Sequence 137608 from Patent EP1572962.
JD511014 - Sequence 492038 from Patent EP1572962.
JD047024 - Sequence 28048 from Patent EP1572962.
JD548527 - Sequence 529551 from Patent EP1572962.
JD528367 - Sequence 509391 from Patent EP1572962.
JD553394 - Sequence 534418 from Patent EP1572962.
JD563963 - Sequence 544987 from Patent EP1572962.
JD566036 - Sequence 547060 from Patent EP1572962.
JD298156 - Sequence 279180 from Patent EP1572962.
AY007149 - Homo sapiens clone CDABP0086 mRNA sequence.

-  Other Names for This Gene
  Alternate Gene Symbols: CAP350 , CE350_HUMAN, CEP350 , ENST00000367607.1, ENST00000367607.2, ENST00000367607.3, ENST00000367607.4, ENST00000367607.5, ENST00000367607.6, ENST00000367607.7, GM133 , KIAA0480, NM_014810, O75068, Q5VT06, Q8TDK3, Q8WY20, uc318gbi.1, uc318gbi.2
UCSC ID: ENST00000367607.8_7
RefSeq Accession: NM_014810.5
Protein: Q5VT06 (aka CE350_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.