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    CNTROB centrobin, centriole duplication and spindle assembly protein [ Homo sapiens (human) ]

    Gene ID: 116840, updated on 9-Dec-2024

    Summary

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    Official Symbol
    CNTROBprovided by HGNC
    Official Full Name
    centrobin, centriole duplication and spindle assembly proteinprovided by HGNC
    Primary source
    HGNC:HGNC:29616
    See related
    Ensembl:ENSG00000170037 MIM:611425; AllianceGenome:HGNC:29616
    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
    LIP8; PP1221
    Summary
    This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
    Expression
    Broad expression in testis (RPKM 22.1), endometrium (RPKM 9.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CNTROB in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7932081..7949920)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7837509..7855338)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7835399..7853238)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel subfamily A regulatory beta subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11657 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:7836395-7836572 Neighboring gene trafficking protein particle complex subunit 1 Neighboring gene MPRA-validated peak2715 silencer Neighboring gene guanylate cyclase 2D, retinal Neighboring gene ReSE screen-validated silencer GRCh37_chr17:7920053-7920233 Neighboring gene uncharacterized LOC124904131

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Centrobin regulates centrosome function in interphase cells by limiting pericentriolar matrix recruitment. Jeffery JM, et al. Cell Cycle, 2013 Mar 15. PMID 23442802, Free PMC Article
    2. Centrobin regulates the assembly of functional mitotic spindles. Jeffery JM, et al. Oncogene, 2010 May 6. PMID 20190801
    3. Centrobin plays a role in the cellular response to DNA damage. Ryu NM, et al. Cell Cycle, 2019 Oct. PMID 31416397, Free PMC Article
    4. Protein Phosphatase 4 Is Required for Centrobin Function in DNA Damage Repair. Réthi-Nagy Z, et al. Cells, 2023 Sep 6. PMID 37759442, Free PMC Article
    5. Centrobin-centrosomal protein 4.1-associated protein (CPAP) interaction promotes CPAP localization to the centrioles during centriole duplication. Gudi R, et al. J Biol Chem, 2014 May 30. PMID 24700465, Free PMC Article

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Protein Phosphatase 4 Is Required for Centrobin Function in DNA Damage Repair.
      Title: Protein Phosphatase 4 Is Required for Centrobin Function in DNA Damage Repair.
    2. Centrobin plays a role in the cellular response to DNA damage.
      Title: Centrobin plays a role in the cellular response to DNA damage.
    3. Suggest centrobin functions as a positive regulator of vertebrate ciliogenesis.
      Title: Centrobin controls primary ciliogenesis in vertebrates.
    4. cytoplasmic centrobin has roles in noncentrosomal microtubule formation in specific cell types and during the cell cycle
      Title: The microtubule nucleation activity of centrobin in both the centrosome and cytoplasm.
    5. Centrobin plays a role in the stability and centriole elongation function of CPAP and limits the centriole length.
      Title: Centrobin-mediated regulation of the centrosomal protein 4.1-associated protein (CPAP) level limits centriole length during elongation stage.
    6. Centrobin-CPAP interaction is critical for the recruitment of CPAP to procentrioles to promote the elongation of daughter centrioles and for the persistence of CPAP on preexisting mother centrioles.
      Title: Centrobin-centrosomal protein 4.1-associated protein (CPAP) interaction promotes CPAP localization to the centrioles during centriole duplication.
    7. it is proposed that Centrobin might regulate microtubule nucleation and organization by controlling the amount of pericentriolar matrix
      Title: Centrobin regulates centrosome function in interphase cells by limiting pericentriolar matrix recruitment.
    8. NEK2 phosphorylation antagonizes the microtubule stabilizing activity of centrobin.
      Title: NEK2 phosphorylation antagonizes the microtubule stabilizing activity of centrobin.
    9. Our results indicate that genetic polymorphisms of centrobin and Nek2 are related to breast cancer susceptibility in Chinese Han women.
      Title: Genetic polymorphisms in centrobin and Nek2 are associated with breast cancer susceptibility in a Chinese Han population.
    10. Centrobin facilitates the elongation and stability of centrioles via its interaction with tubulins.
      Title: Centrobin-tubulin interaction is required for centriole elongation and stability.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in centriole replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in centriole replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in centrosome separation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in centrosome separation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic cytokinetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic cytokinetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    centrobin
    Names
    LYST-interacting protein 8
    LYST-interacting protein LIP8
    centrobin, centrosomal BRCA2 interacting protein
    centrosomal BRCA2-interacting protein

    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.

    Genomic

    1. NG_029754.2 RefSeqGene

      Range
      5127..22841
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001037144.7 → NP_001032221.1  centrobin isoform beta

      See identical proteins and their annotated locations for NP_001032221.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame donor splice site at an exon in the 3' coding region compared to variant 1. This results in a longer isoform (beta) containing a 22 aa protein segment missing in isoform alpha.
      Source sequence(s)
      AC104581
      Consensus CDS
      CCDS32557.1
      UniProtKB/TrEMBL
      A8KAL1
      Related
      ENSP00000369614.3, ENST00000380262.7
      Conserved Domains (1) summary
      pfam14073
      Location:257 → 423
      Cep57_CLD; Centrosome localization domain of Cep57

    2. NM_001330124.3 → NP_001317053.1  centrobin isoform gamma

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (gamma) is longer than isoform alpha.
      Source sequence(s)
      AC104581
      Consensus CDS
      CCDS82063.1
      UniProtKB/TrEMBL
      A8KAL1
      Related
      ENSP00000454840.1, ENST00000565740.5
      Conserved Domains (2) summary
      pfam09731
      Location:454 → 560
      Mitofilin; Mitochondrial inner membrane protein
      cl25732
      Location:198 → 488
      SMC_N; RecF/RecN/SMC N terminal domain

    3. NM_001353202.2 → NP_001340131.1  centrobin isoform delta

      Status: REVIEWED

      Source sequence(s)
      AC104581
      UniProtKB/TrEMBL
      A8KAL1
      Conserved Domains (2) summary
      pfam09731
      Location:454 → 560
      Mitofilin; Mitochondrial inner membrane protein
      cl25732
      Location:198 → 488
      SMC_N; RecF/RecN/SMC N terminal domain

    4. NM_001353203.2 → NP_001340132.1  centrobin isoform alpha

      Status: REVIEWED

      Source sequence(s)
      AC104581
      Consensus CDS
      CCDS11126.1
      UniProtKB/Swiss-Prot
      A6NHQ1, Q331K3, Q69YV7, Q8N137, Q8NCB8, Q8WXV3, Q96CQ7, Q9C060
      UniProtKB/TrEMBL
      A8KAL1
      Conserved Domains (2) summary
      pfam09731
      Location:454 → 560
      Mitofilin; Mitochondrial inner membrane protein
      cl25732
      Location:198 → 488
      SMC_N; RecF/RecN/SMC N terminal domain

    5. NM_001353204.2 → NP_001340133.1  centrobin isoform zeta

      Status: REVIEWED

      Source sequence(s)
      AC104581
      Conserved Domains (1) summary
      cl25732
      Location:13 → 302
      SMC_N; RecF/RecN/SMC N terminal domain

    6. NM_001353205.2 → NP_001340134.1  centrobin isoform epsilon

      Status: REVIEWED

      Source sequence(s)
      AC104581
      UniProtKB/TrEMBL
      A8KAL1
      Conserved Domains (2) summary
      pfam09731
      Location:365 → 471
      Mitofilin; Mitochondrial inner membrane protein
      cl25732
      Location:109 → 399
      SMC_N; RecF/RecN/SMC N terminal domain

    7. NM_001353206.2 → NP_001340135.1  centrobin isoform gamma

      Status: REVIEWED

      Source sequence(s)
      AC104581
      Consensus CDS
      CCDS82063.1
      UniProtKB/TrEMBL
      A8KAL1
      Conserved Domains (2) summary
      pfam09731
      Location:454 → 560
      Mitofilin; Mitochondrial inner membrane protein
      cl25732
      Location:198 → 488
      SMC_N; RecF/RecN/SMC N terminal domain

    8. NM_001353207.1 → NP_001340136.1  centrobin isoform alpha

      Status: REVIEWED

      Source sequence(s)
      AC104581
      Consensus CDS
      CCDS11126.1
      UniProtKB/Swiss-Prot
      A6NHQ1, Q331K3, Q69YV7, Q8N137, Q8NCB8, Q8WXV3, Q96CQ7, Q9C060
      UniProtKB/TrEMBL
      A8KAL1
      Conserved Domains (2) summary
      pfam09731
      Location:454 → 560
      Mitofilin; Mitochondrial inner membrane protein
      cl25732
      Location:198 → 488
      SMC_N; RecF/RecN/SMC N terminal domain

    9. NM_001353208.2 → NP_001340137.1  centrobin isoform gamma

      Status: REVIEWED

      Source sequence(s)
      AC104581
      Consensus CDS
      CCDS82063.1
      UniProtKB/TrEMBL
      A8KAL1
      Conserved Domains (2) summary
      pfam09731
      Location:454 → 560
      Mitofilin; Mitochondrial inner membrane protein
      cl25732
      Location:198 → 488
      SMC_N; RecF/RecN/SMC N terminal domain

    10. NM_001353209.1 → NP_001340138.1  centrobin isoform gamma

      Status: REVIEWED

      Source sequence(s)
      AC104581
      Consensus CDS
      CCDS82063.1
      UniProtKB/TrEMBL
      A8KAL1
      Conserved Domains (2) summary
      pfam09731
      Location:454 → 560
      Mitofilin; Mitochondrial inner membrane protein
      cl25732
      Location:198 → 488
      SMC_N; RecF/RecN/SMC N terminal domain

    11. NM_053051.5 → NP_444279.2  centrobin isoform alpha

      See identical proteins and their annotated locations for NP_444279.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform alpha.
      Source sequence(s)
      AC104581
      Consensus CDS
      CCDS11126.1
      UniProtKB/Swiss-Prot
      A6NHQ1, Q331K3, Q69YV7, Q8N137, Q8NCB8, Q8WXV3, Q96CQ7, Q9C060
      UniProtKB/TrEMBL
      A8KAL1
      Related
      ENSP00000456335.1, ENST00000563694.6
      Conserved Domains (2) summary
      pfam09731
      Location:454 → 560
      Mitofilin; Mitochondrial inner membrane protein
      cl25732
      Location:198 → 488
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7932081..7949920
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024129.2 → XP_016879618.1  centrobin isoform X1

      UniProtKB/TrEMBL
      A8KAL1
      Conserved Domains (1) summary
      pfam14073
      Location:257 → 423
      Cep57_CLD; Centrosome localization domain of Cep57

    2. XM_047435304.1 → XP_047291260.1  centrobin isoform X4

      UniProtKB/TrEMBL
      A8KAL1

    3. XM_017024135.2 → XP_016879624.1  centrobin isoform X6

      UniProtKB/TrEMBL
      A8KAL1

    4. XM_017024137.3 → XP_016879626.1  centrobin isoform X7

      UniProtKB/TrEMBL
      A8KAL1

    5. XM_017024134.3 → XP_016879623.1  centrobin isoform X2

      UniProtKB/TrEMBL
      A8KAL1

    6. XM_005256438.4 → XP_005256495.1  centrobin isoform X3

      UniProtKB/TrEMBL
      A8KAL1
      Conserved Domains (1) summary
      pfam14073
      Location:257 → 423
      Cep57_CLD; Centrosome localization domain of Cep57

    7. XM_047435305.1 → XP_047291261.1  centrobin isoform X5

      UniProtKB/TrEMBL
      A8KAL1

    8. XM_017024128.2 → XP_016879617.1  centrobin isoform X1

      UniProtKB/TrEMBL
      A8KAL1
      Conserved Domains (1) summary
      pfam14073
      Location:257 → 423
      Cep57_CLD; Centrosome localization domain of Cep57

    9. XM_047435302.1 → XP_047291258.1  centrobin isoform X3

      UniProtKB/TrEMBL
      A8KAL1

    10. XM_047435303.1 → XP_047291259.1  centrobin isoform X4

      UniProtKB/TrEMBL
      A8KAL1

    11. XM_017024141.2 → XP_016879630.1  centrobin isoform X9

    12. XM_017024138.2 → XP_016879627.1  centrobin isoform X8

    13. XM_017024143.2 → XP_016879632.1  centrobin isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7837509..7855338
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314961.1 → XP_054170936.1  centrobin isoform X1

      UniProtKB/TrEMBL
      A8KAL1

    2. XM_054314966.1 → XP_054170941.1  centrobin isoform X4

      UniProtKB/TrEMBL
      A8KAL1

    3. XM_054314968.1 → XP_054170943.1  centrobin isoform X6

      UniProtKB/TrEMBL
      A8KAL1

    4. XM_054314969.1 → XP_054170944.1  centrobin isoform X7

      UniProtKB/TrEMBL
      A8KAL1

    5. XM_054314962.1 → XP_054170937.1  centrobin isoform X2

      UniProtKB/TrEMBL
      A8KAL1

    6. XM_054314963.1 → XP_054170938.1  centrobin isoform X3

      UniProtKB/TrEMBL
      A8KAL1

    7. XM_054314967.1 → XP_054170942.1  centrobin isoform X5

      UniProtKB/TrEMBL
      A8KAL1

    8. XM_054314960.1 → XP_054170935.1  centrobin isoform X1

      UniProtKB/TrEMBL
      A8KAL1

    9. XM_054314964.1 → XP_054170939.1  centrobin isoform X3

      UniProtKB/TrEMBL
      A8KAL1

    10. XM_054314965.1 → XP_054170940.1  centrobin isoform X4

      UniProtKB/TrEMBL
      A8KAL1

    11. XM_054314973.1 → XP_054170948.1  centrobin isoform X9

    12. XM_054314970.1 → XP_054170945.1  centrobin isoform X8

    13. XM_054314972.1 → XP_054170947.1  centrobin isoform X11

    14. XM_054314971.1 → XP_054170946.1  centrobin isoform X8

    15. XM_054314974.1 → XP_054170949.1  centrobin isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N137.1 GenPept UniProtKB/Swiss-Prot:Q8N137

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