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

Gene ID: 116840, updated on 11-Sep-2019

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
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

Genomic context

See CNTROB in Genome Data Viewer
Location:
17p13.1
Exon count:
22
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (7932054..7949920)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7835442..7853237)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ring finger protein 227 Neighboring gene potassium voltage-gated channel subfamily A regulatory beta subunit 3 Neighboring gene trafficking protein particle complex 1 Neighboring gene uncharacterized LOC105371517 Neighboring gene guanylate cyclase 2D, retinal

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

Homology

Gene Ontology Provided by GOA

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

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_029754.1 RefSeqGene

    Range
    4958..22790
    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/Swiss-Prot
    Q8N137
    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/Swiss-Prot
    Q8N137
    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
    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
    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
    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
    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
    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
    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
    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
    Q8N137
    Related
    ENSP00000456335.1, ENST00000563694.5
    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: 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_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    7932054..7949920
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024129.1XP_016879618.1  centrobin isoform X1

    UniProtKB/Swiss-Prot
    Q8N137
    Conserved Domains (1) summary
    pfam14073
    Location:257423
    Cep57_CLD; Centrosome localization domain of Cep57
  2. XM_017024142.1XP_016879631.1  centrobin isoform X9

  3. XM_017024128.1XP_016879617.1  centrobin isoform X1

    UniProtKB/Swiss-Prot
    Q8N137
    Conserved Domains (1) summary
    pfam14073
    Location:257423
    Cep57_CLD; Centrosome localization domain of Cep57
  4. XM_017024141.1XP_016879630.1  centrobin isoform X8

  5. XM_017024144.2XP_016879633.1  centrobin isoform X11

  6. XM_017024135.1XP_016879624.1  centrobin isoform X4

  7. XM_017024137.2XP_016879626.1  centrobin isoform X5

  8. XM_017024134.2XP_016879623.1  centrobin isoform X2

  9. XM_005256438.3XP_005256495.1  centrobin isoform X3

    Conserved Domains (1) summary
    pfam14073
    Location:257423
    Cep57_CLD; Centrosome localization domain of Cep57
  10. XM_017024139.1XP_016879628.1  centrobin isoform X7

  11. XM_017024143.1XP_016879632.1  centrobin isoform X10

  12. XM_017024138.1XP_016879627.1  centrobin isoform X6

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