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

    Gene ID: 116840, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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.

    Genomic

    1. NG_029754.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001037144.7NP_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:257423
      Cep57_CLD; Centrosome localization domain of Cep57
    2. NM_001330124.3NP_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:454560
      Mitofilin; Mitochondrial inner membrane protein
      cl25732
      Location:198488
      SMC_N; RecF/RecN/SMC N terminal domain
    3. NM_001353202.2NP_001340131.1  centrobin isoform delta

      Status: REVIEWED

      Source sequence(s)
      AC104581
      UniProtKB/TrEMBL
      A8KAL1
      Conserved Domains (2) summary
      pfam09731
      Location:454560
      Mitofilin; Mitochondrial inner membrane protein
      cl25732
      Location:198488
      SMC_N; RecF/RecN/SMC N terminal domain
    4. NM_001353203.2NP_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:454560
      Mitofilin; Mitochondrial inner membrane protein
      cl25732
      Location:198488
      SMC_N; RecF/RecN/SMC N terminal domain
    5. NM_001353204.2NP_001340133.1  centrobin isoform zeta

      Status: REVIEWED

      Source sequence(s)
      AC104581
      Conserved Domains (1) summary
      cl25732
      Location:13302
      SMC_N; RecF/RecN/SMC N terminal domain
    6. NM_001353205.2NP_001340134.1  centrobin isoform epsilon

      Status: REVIEWED

      Source sequence(s)
      AC104581
      UniProtKB/TrEMBL
      A8KAL1
      Conserved Domains (2) summary
      pfam09731
      Location:365471
      Mitofilin; Mitochondrial inner membrane protein
      cl25732
      Location:109399
      SMC_N; RecF/RecN/SMC N terminal domain
    7. NM_001353206.2NP_001340135.1  centrobin isoform gamma

      Status: REVIEWED

      Source sequence(s)
      AC104581
      Consensus CDS
      CCDS82063.1
      UniProtKB/TrEMBL
      A8KAL1
      Conserved Domains (2) summary
      pfam09731
      Location:454560
      Mitofilin; Mitochondrial inner membrane protein
      cl25732
      Location:198488
      SMC_N; RecF/RecN/SMC N terminal domain
    8. NM_001353207.1NP_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:454560
      Mitofilin; Mitochondrial inner membrane protein
      cl25732
      Location:198488
      SMC_N; RecF/RecN/SMC N terminal domain
    9. NM_001353208.2NP_001340137.1  centrobin isoform gamma

      Status: REVIEWED

      Source sequence(s)
      AC104581
      Consensus CDS
      CCDS82063.1
      UniProtKB/TrEMBL
      A8KAL1
      Conserved Domains (2) summary
      pfam09731
      Location:454560
      Mitofilin; Mitochondrial inner membrane protein
      cl25732
      Location:198488
      SMC_N; RecF/RecN/SMC N terminal domain
    10. NM_001353209.1NP_001340138.1  centrobin isoform gamma

      Status: REVIEWED

      Source sequence(s)
      AC104581
      Consensus CDS
      CCDS82063.1
      UniProtKB/TrEMBL
      A8KAL1
      Conserved Domains (2) summary
      pfam09731
      Location:454560
      Mitofilin; Mitochondrial inner membrane protein
      cl25732
      Location:198488
      SMC_N; RecF/RecN/SMC N terminal domain
    11. NM_053051.5NP_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:454560
      Mitofilin; Mitochondrial inner membrane protein
      cl25732
      Location:198488
      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_017024129.2XP_016879618.1  centrobin isoform X1

      UniProtKB/TrEMBL
      A8KAL1
      Conserved Domains (1) summary
      pfam14073
      Location:257423
      Cep57_CLD; Centrosome localization domain of Cep57
    2. XM_047435304.1XP_047291260.1  centrobin isoform X4

    3. XM_017024135.2XP_016879624.1  centrobin isoform X6

      UniProtKB/TrEMBL
      A8KAL1
    4. XM_017024137.3XP_016879626.1  centrobin isoform X7

      UniProtKB/TrEMBL
      A8KAL1
    5. XM_017024134.3XP_016879623.1  centrobin isoform X2

      UniProtKB/TrEMBL
      A8KAL1
    6. XM_005256438.4XP_005256495.1  centrobin isoform X3

      UniProtKB/TrEMBL
      A8KAL1
      Conserved Domains (1) summary
      pfam14073
      Location:257423
      Cep57_CLD; Centrosome localization domain of Cep57
    7. XM_047435305.1XP_047291261.1  centrobin isoform X5

    8. XM_017024128.2XP_016879617.1  centrobin isoform X1

      UniProtKB/TrEMBL
      A8KAL1
      Conserved Domains (1) summary
      pfam14073
      Location:257423
      Cep57_CLD; Centrosome localization domain of Cep57
    9. XM_047435302.1XP_047291258.1  centrobin isoform X3

    10. XM_047435303.1XP_047291259.1  centrobin isoform X4

    11. XM_017024141.2XP_016879630.1  centrobin isoform X9

    12. XM_017024138.2XP_016879627.1  centrobin isoform X8

    13. XM_017024143.2XP_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_054314961.1XP_054170936.1  centrobin isoform X1

    2. XM_054314966.1XP_054170941.1  centrobin isoform X4

    3. XM_054314968.1XP_054170943.1  centrobin isoform X6

    4. XM_054314969.1XP_054170944.1  centrobin isoform X7

    5. XM_054314962.1XP_054170937.1  centrobin isoform X2

    6. XM_054314963.1XP_054170938.1  centrobin isoform X3

    7. XM_054314967.1XP_054170942.1  centrobin isoform X5

    8. XM_054314960.1XP_054170935.1  centrobin isoform X1

    9. XM_054314964.1XP_054170939.1  centrobin isoform X3

    10. XM_054314965.1XP_054170940.1  centrobin isoform X4

    11. XM_054314973.1XP_054170948.1  centrobin isoform X9

    12. XM_054314970.1XP_054170945.1  centrobin isoform X8

    13. XM_054314972.1XP_054170947.1  centrobin isoform X11

    14. XM_054314971.1XP_054170946.1  centrobin isoform X8

    15. XM_054314974.1XP_054170949.1  centrobin isoform X10