CNTLN centlein [Homo sapiens (human)] - Gene

Summary

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, Dec 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

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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 EBI GWAS CatalogPubMed
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of lung function decline in adults with and without asthma. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D9S1218 (e-PCR)
- UniSTS:153111

D9S1709 (e-PCR)
- UniSTS:50482

SHGC-144253 (e-PCR)
- UniSTS:174202

AGAT142 (e-PCR)
- UniSTS:498598

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 more info	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)

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
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
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
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
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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

17135040..17528634

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
XM_017014841.2 → XP_016870330.1 centlein isoform X4

UniProtKB/Swiss-Prot

A5Z2X6, Q5VYJ0, Q8N1G9, Q9HAJ5, Q9NXG0
XM_047423520.1 → XP_047279476.1 centlein isoform X5

UniProtKB/Swiss-Prot

A5Z2X6, Q5VYJ0, Q8N1G9, Q9HAJ5, Q9NXG0
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]
XM_047423519.1 → XP_047279475.1 centlein isoform X3

UniProtKB/Swiss-Prot

A5Z2X6, Q5VYJ0, Q8N1G9, Q9HAJ5, Q9NXG0
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
XM_047423521.1 → XP_047279477.1 centlein isoform X7

UniProtKB/Swiss-Prot

A5Z2X6, Q5VYJ0, Q8N1G9, Q9HAJ5, Q9NXG0
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]
XM_017014843.2 → XP_016870332.1 centlein isoform X10
XM_017014842.2 → XP_016870331.1 centlein isoform X9
XM_017014844.1 → XP_016870333.1 centlein isoform X11
XM_017014845.3 → XP_016870334.1 centlein isoform X13
XM_017014846.2 → XP_016870335.1 centlein isoform X14
XM_047423522.1 → XP_047279478.1 centlein isoform X12
XM_017014847.3 → XP_016870336.1 centlein isoform X14