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CEP72 centrosomal protein 72 [ Homo sapiens (human) ]

Gene ID: 55722, updated on 5-Sep-2021

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
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Genomic context

See CEP72 in Genome Data Viewer
Location:
5p15.33
Exon count:
20
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (612340..668744)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (612455..668859)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374607 Neighboring gene uncharacterized LOC105374608 Neighboring gene CEP72 divergent transcript Neighboring gene tubulin polymerization promoting protein Neighboring gene uncharacterized LOC101929898 Neighboring gene zinc finger DHHC-type containing 11B Neighboring gene bromodomain containing 9 pseudogene 2

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?

Phenotypes

Associated conditions

Description Tests
Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

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
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in centriole replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in gamma-tubulin complex localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of protein localization to centrosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in spindle organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

NEW Try the new Transcript table

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

RNA

  1. NR_164122.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC026740, AC106772

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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..668744
    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_001742149.1 RNA Sequence

  5. XR_001742146.1 RNA Sequence

  6. 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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