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

Gene ID: 116840, updated on 2-Nov-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
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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 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)

Genotypes

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

  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

  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

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

  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

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

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

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

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

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

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

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

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

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

  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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