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    CNTLN centlein [ Homo sapiens (human) ]

    Gene ID: 54875, updated on 26-Nov-2024

    Summary

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    Official Symbol
    CNTLNprovided by HGNC
    Official Full Name
    centleinprovided by HGNC
    Primary source
    HGNC:HGNC:23432
    See related
    Ensembl:ENSG00000044459 MIM:611870; AllianceGenome:HGNC:23432
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C9orf39; C9orf101; bA340N12.1
    Summary
    Enables protein domain specific binding activity; protein kinase binding activity; and protein-macromolecule adaptor activity. Involved in centriole-centriole cohesion and protein localization to organelle. Located in cytosol; microtubule organizing center; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 1.5), testis (RPKM 1.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CNTLN in Genome Data Viewer
    Location:
    9p22.2
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (17135040..17528634)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (17147678..17548946)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (17135038..17503921)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:17135319-17135882 Neighboring gene ribosomal protein S29 pseudogene 33 Neighboring gene ribosomal protein L31 pseudogene 42 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:17290716-17291321 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:17294738-17295260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:17295261-17295783 Neighboring gene VISTA enhancer hs529 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:17332022-17332668 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:17353653-17354168 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:17397207-17397728 Neighboring gene SAMM50 sorting and assembly machinery component pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:17539955-17540454 Neighboring gene uncharacterized LOC107987051 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:17577876-17578074 Neighboring gene poly(A) binding protein cytoplasmic 1 pseudogene 11 Neighboring gene SH3 domain containing GRB2 like 2, endophilin A1

    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. Variant on chromosome 9p is associated with left ventricular mass: results from two cohorts of essential hypertensive individuals. Menni C, et al. J Hypertens, 2012 Nov. PMID 22940680
    2. A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Song H, et al. Nat Genet, 2009 Sep. PMID 19648919, Free PMC Article
    3. Centlein, a novel microtubule-associated protein stabilizing microtubules and involved in neurite formation. Jing Z, et al. Biochem Biophys Res Commun, 2016 Apr 1. PMID 26915804
    4. Identification and characterization of the novel centrosomal protein centlein. Makino K, et al. Biochem Biophys Res Commun, 2008 Feb 22. PMID 18086554
    5. Centlein mediates an interaction between C-Nap1 and Cep68 to maintain centrosome cohesion. Fang G, et al. J Cell Sci, 2014 Apr 15. PMID 24554434

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Taken together, we propose that centlein is involved in MT stability and neuritogenesis in vivo.
      Title: Centlein, a novel microtubule-associated protein stabilizing microtubules and involved in neurite formation.
    2. Centlein complexes with C-Nap1 and Cep68 at the proximal ends of centrioles during interphase.
      Title: Centlein mediates an interaction between C-Nap1 and Cep68 to maintain centrosome cohesion.
    3. identified a SNP (rs894379) in the intronic region of the centlein, centrosomal protein (CNTLN) gene on chromosome 9p22, whose minor allele G is associated with an increased left ventricular mass
      Title: Variant on chromosome 9p is associated with left ventricular mass: results from two cohorts of essential hypertensive individuals.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.
    EBI GWAS Catalog
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    EBI GWAS Catalog
    Genome-wide association study of lung function decline in adults with and without asthma.
    EBI GWAS Catalog

    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 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in centriole-centriole cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in centriole-centriole cohesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to organelle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein-containing complex assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of protein localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in single fertilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis 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
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in sperm head-tail coupling apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    centlein
    Names
    centlein, centrosomal protein
    centrosomal 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.

    mRNA and Protein(s)

    1. NM_001114395.3 → NP_001107867.1  centlein isoform 2

      See identical proteins and their annotated locations for NP_001107867.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several exons in the central and 3' regions but includes an alternate 3' terminal exon, and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is significantly shorter than isoform 1.
      Source sequence(s)
      AK098502, AL354711, AW136479
      Consensus CDS
      CCDS47953.1
      UniProtKB/Swiss-Prot
      Q9NXG0
      Related
      ENSP00000370015.3, ENST00000380641.4
      Conserved Domains (1) summary
      pfam08537
      Location:155 → 249
      NBP1; Fungal Nap binding protein NBP1

    2. NM_001286984.2 → NP_001273913.1  centlein isoform 3

      See identical proteins and their annotated locations for NP_001273913.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks several exons in the central and 3' regions but includes an alternate 3' terminal exon, and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is significantly shorter than isoform 1.
      Source sequence(s)
      AL354711, DA482759, GD147113
      UniProtKB/TrEMBL
      B1AMC8
      Related
      ENST00000484374.1

    3. NM_001286985.2 → NP_001273914.1  centlein isoform 4

      See identical proteins and their annotated locations for NP_001273914.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, and lacks several exons in the central and 3' regions but includes an alternate 3' terminal exon, and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is significantly shorter than isoform 1.
      Source sequence(s)
      AL354711, BU663791, GD147113

    4. NM_001365029.1 → NP_001351958.1  centlein isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL133214, AL162725, AL354711, AL354738, AL590377
      UniProtKB/Swiss-Prot
      A5Z2X6, Q5VYJ0, Q8N1G9, Q9HAJ5, Q9NXG0
      Conserved Domains (1) summary
      cl25732
      Location:148 → 792
      SMC_N; RecF/RecN/SMC N terminal domain

    5. NM_017738.4 → NP_060208.2  centlein isoform 1

      See identical proteins and their annotated locations for NP_060208.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK000283, AK021596, AK308837, AL133214, AL354738, AL590377, BX647069, CA428767, CX786573
      Consensus CDS
      CCDS43789.1
      UniProtKB/Swiss-Prot
      A5Z2X6, Q5VYJ0, Q8N1G9, Q9HAJ5, Q9NXG0
      Related
      ENSP00000370021.3, ENST00000380647.8
      Conserved Domains (1) summary
      COG1196
      Location:148 → 792
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      17135040..17528634
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014839.2 → XP_016870328.1  centlein isoform X1

      UniProtKB/Swiss-Prot
      A5Z2X6, Q5VYJ0, Q8N1G9, Q9HAJ5, Q9NXG0
      Conserved Domains (1) summary
      COG1196
      Location:148 → 792
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    2. XM_017014841.2 → XP_016870330.1  centlein isoform X4

      UniProtKB/Swiss-Prot
      A5Z2X6, Q5VYJ0, Q8N1G9, Q9HAJ5, Q9NXG0

    3. XM_047423520.1 → XP_047279476.1  centlein isoform X5

    4. XM_006716793.5 → XP_006716856.1  centlein isoform X2

      UniProtKB/Swiss-Prot
      A5Z2X6, Q5VYJ0, Q8N1G9, Q9HAJ5, Q9NXG0
      Conserved Domains (1) summary
      COG1196
      Location:85 → 729
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    5. XM_047423519.1 → XP_047279475.1  centlein isoform X3

    6. XM_024447583.2 → XP_024303351.1  centlein isoform X6

      UniProtKB/Swiss-Prot
      A5Z2X6, Q5VYJ0, Q8N1G9, Q9HAJ5, Q9NXG0
      Conserved Domains (1) summary
      cl25732
      Location:148 → 792
      SMC_N; RecF/RecN/SMC N terminal domain

    7. XM_047423521.1 → XP_047279477.1  centlein isoform X7

    8. XM_011517941.3 → XP_011516243.1  centlein isoform X8

      Conserved Domains (1) summary
      COG1196
      Location:148 → 792
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    9. XM_017014843.2 → XP_016870332.1  centlein isoform X10

    10. XM_017014842.2 → XP_016870331.1  centlein isoform X9

    11. XM_017014844.1 → XP_016870333.1  centlein isoform X11

    12. XM_017014845.3 → XP_016870334.1  centlein isoform X13

    13. XM_017014846.2 → XP_016870335.1  centlein isoform X14

    14. XM_047423522.1 → XP_047279478.1  centlein isoform X12

    15. XM_017014847.3 → XP_016870336.1  centlein isoform X14

    RNA

    1. XR_007061321.1 RNA Sequence

    2. XR_007061322.1 RNA Sequence

    3. XR_929282.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      17147678..17548946
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363135.1 → XP_054219110.1  centlein isoform X15

    2. XM_054363134.1 → XP_054219109.1  centlein isoform X1

    3. XM_054363138.1 → XP_054219113.1  centlein isoform X4

    4. XM_054363139.1 → XP_054219114.1  centlein isoform X5

    5. XM_054363136.1 → XP_054219111.1  centlein isoform X2

    6. XM_054363137.1 → XP_054219112.1  centlein isoform X3

    7. XM_054363140.1 → XP_054219115.1  centlein isoform X6

    8. XM_054363141.1 → XP_054219116.1  centlein isoform X7

    9. XM_054363142.1 → XP_054219117.1  centlein isoform X8

    10. XM_054363144.1 → XP_054219119.1  centlein isoform X16

    11. XM_054363145.1 → XP_054219120.1  centlein isoform X10

    12. XM_054363143.1 → XP_054219118.1  centlein isoform X9

    13. XM_054363148.1 → XP_054219123.1  centlein isoform X17

    14. XM_054363146.1 → XP_054219121.1  centlein isoform X11

    15. XM_054363147.1 → XP_054219122.1  centlein isoform X12

    RNA

    1. XR_008488033.1 RNA Sequence

    2. XR_008488034.1 RNA Sequence

    3. XR_008488035.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NXG0.6 GenPept UniProtKB/Swiss-Prot:Q9NXG0

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