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CEP72 centrosomal protein 72 [ Homo sapiens (human) ]

Gene ID: 55722, updated on 7-Jul-2019

Summary

Official Symbol
CEP72provided by HGNC
Official Full Name
centrosomal protein 72provided by HGNC
Primary source
HGNC:HGNC:25547
See related
Ensembl:ENSG00000112877 MIM:616475
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
Summary
The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in lung (RPKM 2.7), thyroid (RPKM 2.2) and 25 other tissues See more
Orthologs

Genomic context

See CEP72 in Genome Data Viewer
Location:
5p15.33
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (612340..663500)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (612405..655807)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374607 Neighboring gene uncharacterized LOC105374608 Neighboring gene uncharacterized LOC100996325 Neighboring gene uncharacterized LOC101929895 Neighboring gene tubulin polymerization promoting protein Neighboring gene uncharacterized LOC101929898

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?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

  • AURKA Activation by TPX2, organism-specific biosystem (from REACTOME)
    AURKA Activation by TPX2, organism-specific biosystemTPX2 binds to aurora kinase A (AURKA) at centrosomes and promotes its activation by facilitating AURKA active conformation and autophosphorylation of the AURKA threonine residue T288 (Bayliss et al. ...
  • Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
    Anchoring of the basal body to the plasma membrane, organism-specific biosystemCilium biogenesis is initiated by the docking of basal bodies, a centriole-derived organelle, to the plasma membrane (reviewed in Reiter et al, 2012). The centriole consists of a multiprotein core su...
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Centrosome maturation, organism-specific biosystem (from REACTOME)
    Centrosome maturation, organism-specific biosystemThe centrosome is the primary microtubule organizing center (MTOC) in vertebrate cells and plays an important role in orchestrating the formation of the mitotic spindle. Centrosome maturation is an ...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • G2/M Transition, organism-specific biosystem (from REACTOME)
    G2/M Transition, organism-specific biosystemCyclin A can also form complexes with Cdc2 (Cdk1). Together with three B-type cyclins, Cdc2 (Cdk1) regulates the transition from G2 into mitosis. These complexes are activated by dephosphorylation of...
  • Loss of Nlp from mitotic centrosomes, organism-specific biosystem (from REACTOME)
    Loss of Nlp from mitotic centrosomes, organism-specific biosystemDuring interphase, Nlp interacts with gamma-tubulin ring complexes (gamma-TuRC), and is thought to contribute to the organization of interphase microtubules (Casenghi et al.,2003). Plk1 is activated...
  • Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystem (from REACTOME)
    Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystemIn addition to recruiting proteins and complexes necessary for increased microtubule nucleation, centrosomal maturation involves the loss of proteins involved in interphase microtubule organization ...
  • Mitotic G2-G2/M phases, organism-specific biosystem (from REACTOME)
    Mitotic G2-G2/M phases, organism-specific biosystem
    Mitotic G2-G2/M phases
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystem (from REACTOME)
    Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystemThe mitotic spindle becomes established once centrosomes have migrated to opposite poles and the nuclear envelope has broken down. During this stage, interphase centrosomes mature into mitotic centro...
  • Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystem (from REACTOME)
    Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystemThe kinase activity of PLK1 is required for cell cycle progression as PLK1 phosphorylates and regulates a number of cellular proteins during mitosis. Centrosomic AURKA (Aurora A kinase), catalyticall...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC5307, FLJ10565, KIAA1519

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
centriole replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
gamma-tubulin complex localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
regulation of protein localization to centrosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
spindle organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
centriolar satellite IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
centrosomal protein of 72 kDa
Names
centrosomal protein 72kDa

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_018140.4NP_060610.2  centrosomal protein of 72 kDa

    See identical proteins and their annotated locations for NP_060610.2

    Status: REVIEWED

    Source sequence(s)
    BC000132, BG718176
    Consensus CDS
    CCDS34126.1
    UniProtKB/Swiss-Prot
    Q9P209
    Related
    ENSP00000264935.5, ENST00000264935.6
    Conserved Domains (3) summary
    sd00031
    Location:5677
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:56153
    LRR_9; Leucine-rich repeat
    cl25732
    Location:444590
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    612340..663500
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514063.1XP_011512365.1  centrosomal protein of 72 kDa isoform X1

    See identical proteins and their annotated locations for XP_011512365.1

    UniProtKB/Swiss-Prot
    Q9P209
    Conserved Domains (3) summary
    sd00031
    Location:5677
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:56153
    LRR_9; Leucine-rich repeat
    cl25732
    Location:444590
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_017009626.1XP_016865115.1  centrosomal protein of 72 kDa isoform X3

    Conserved Domains (1) summary
    COG1196
    Location:255401
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  3. XM_005248322.3XP_005248379.1  centrosomal protein of 72 kDa isoform X2

    See identical proteins and their annotated locations for XP_005248379.1

    Conserved Domains (4) summary
    smart00446
    Location:6885
    LRRcap; occurring C-terminal to leucine-rich repeats
    sd00031
    Location:627
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:444
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:453
    LRR_8; Leucine rich repeat
  4. XM_017009627.1XP_016865116.1  centrosomal protein of 72 kDa isoform X3

    Conserved Domains (1) summary
    COG1196
    Location:255401
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  5. XM_011514064.2XP_011512366.1  centrosomal protein of 72 kDa isoform X2

    See identical proteins and their annotated locations for XP_011512366.1

    Conserved Domains (4) summary
    smart00446
    Location:6885
    LRRcap; occurring C-terminal to leucine-rich repeats
    sd00031
    Location:627
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:444
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:453
    LRR_8; Leucine rich repeat

RNA

  1. XR_925628.1 RNA Sequence

  2. XR_925630.2 RNA Sequence

  3. XR_925631.2 RNA Sequence

  4. XR_001742147.2 RNA Sequence

  5. XR_001742149.1 RNA Sequence

  6. XR_001742146.1 RNA Sequence

  7. XR_001742148.1 RNA Sequence

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187550.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    6636..14557 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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