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CEP350 centrosomal protein 350 [ Homo sapiens (human) ]

Gene ID: 9857, updated on 9-Dec-2018

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
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

Genomic context

See CEP350 in Genome Data Viewer
Location:
1q25.2
Exon count:
40
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (179954773..180114880)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (179923908..180084015)

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 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 FunctionsWhat's a GeneRIF?

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
microtubule binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
microtubule anchoring IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell projection IEA
Inferred from Electronic Annotation
more info
 
centriole IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
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)

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
    Related
    ENSP00000356579.3, ENST00000367607.7
    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 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    179954773..180114880
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002930.1XP_016858419.1  centrosome-associated protein 350 isoform X3

  2. XM_011510191.2XP_011508493.1  centrosome-associated protein 350 isoform X1

    See identical proteins and their annotated locations for XP_011508493.1

    Conserved Domains (1) summary
    pfam01302
    Location:25722635
    CAP_GLY; CAP-Gly domain
  3. XM_017002931.1XP_016858420.1  centrosome-associated protein 350 isoform X4

  4. XM_011510198.2XP_011508500.1  centrosome-associated protein 350 isoform X5

    Conserved Domains (2) summary
    pfam01302
    Location:25312594
    CAP_GLY; CAP-Gly domain
    pfam02463
    Location:17152425
    SMC_N; RecF/RecN/SMC N terminal domain
  5. XM_017002929.1XP_016858418.1  centrosome-associated protein 350 isoform X2

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