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CNTLN centlein [ Homo sapiens (human) ]

Gene ID: 54875, updated on 3-Apr-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, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 1.5), testis (RPKM 1.4) and 24 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (17135040..17528634)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (17147678..17548946)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (17135038..17503921)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 720, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:17135319-17135882 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. 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
  3. 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
  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 (31) 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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20276, FLJ25636

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
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
  

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_2023_10

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

Gene LinkOut

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