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CNTLN centlein [ Homo sapiens (human) ]

Gene ID: 54875, updated on 21-Dec-2019

Summary

Official Symbol
CNTLNprovided by HGNC
Official Full Name
centleinprovided by HGNC
Primary source
HGNC:HGNC:23432
See related
Ensembl:ENSG00000044459 MIM:611870
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
Expression
Ubiquitous expression in ovary (RPKM 1.5), testis (RPKM 1.4) and 24 other tissues See more
Orthologs

Genomic context

See CNTLN in Genome Data Viewer
Location:
9p22.2
Exon count:
37
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (17134991..17510020)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (17134989..17503921)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 720, pseudogene Neighboring gene ribosomal protein L31 pseudogene 42 Neighboring gene VISTA enhancer hs529 Neighboring gene SAMM50 sorting and assembly machinery component pseudogene 1 Neighboring gene uncharacterized LOC107987051 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

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?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20276, FLJ25636

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding, bridging IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
centriole-centriole cohesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centriole-centriole cohesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to organelle IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
centlein
Names
centlein, centrosomal protein
centrosomal 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.

mRNA and Protein(s)

  1. NM_001114395.3NP_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:155249
    NBP1; Fungal Nap binding protein NBP1
  2. NM_001286984.2NP_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
  3. NM_001286985.2NP_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_001365029.1NP_001351958.1  centlein isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL133214, AL162725, AL354711, AL354738, AL590377
    Conserved Domains (1) summary
    cl25732
    Location:148792
    SMC_N; RecF/RecN/SMC N terminal domain
  5. NM_017738.4NP_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
    Q9NXG0
    Related
    ENSP00000370021.3, ENST00000380647.8
    Conserved Domains (1) summary
    COG1196
    Location:148792
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    17134991..17510020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014840.2XP_016870329.1  centlein isoform X3

  2. XM_017014839.1XP_016870328.1  centlein isoform X2

    Conserved Domains (1) summary
    COG1196
    Location:148792
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  3. XM_017014841.1XP_016870330.1  centlein isoform X5

  4. XM_024447583.1XP_024303351.1  centlein isoform X6

    Conserved Domains (1) summary
    cl25732
    Location:148792
    SMC_N; RecF/RecN/SMC N terminal domain
  5. XM_011517941.2XP_011516243.1  centlein isoform X7

    Conserved Domains (1) summary
    COG1196
    Location:148792
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  6. XM_017014843.1XP_016870332.1  centlein isoform X9

  7. XM_017014842.1XP_016870331.1  centlein isoform X8

  8. XM_006716793.4XP_006716856.1  centlein isoform X4

    Conserved Domains (1) summary
    COG1196
    Location:85729
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  9. XM_017014844.1XP_016870333.1  centlein isoform X10

  10. XM_017014845.2XP_016870334.1  centlein isoform X11

  11. XM_017014846.1XP_016870335.1  centlein isoform X12

  12. XM_017014847.2XP_016870336.1  centlein isoform X12

RNA

  1. XR_929282.2 RNA Sequence

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