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CEP162 centrosomal protein 162 [ Homo sapiens (human) ]

Gene ID: 22832, updated on 2-Nov-2024

Summary

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Official Symbol
CEP162provided by HGNC
Official Full Name
centrosomal protein 162provided by HGNC
Primary source
HGNC:HGNC:21107
See related
Ensembl:ENSG00000135315 MIM:610201; AllianceGenome:HGNC:21107
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
QN1; C6orf84; KIAA1009
Summary
Involved in cilium assembly. Located in cytosol; microtubule cytoskeleton; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 6.2), thyroid (RPKM 2.2) and 24 other tissues See more
Orthologs
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Genomic context

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See CEP162 in Genome Data Viewer
Location:
6q14.2-q14.3
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (84124250..84227643, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (85347546..85450937, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (84833969..84937361, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RIPPLY2-CYB5R4 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17361 Neighboring gene Sharpr-MPRA regulatory region 3398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:84615227-84615728 Neighboring gene cytochrome b5 reductase 4 Neighboring gene CRISPRi-validated cis-regulatory element chr6.3721 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:84686166-84687365 Neighboring gene MPRA-validated peak5932 silencer Neighboring gene long intergenic non-protein coding RNA 2857 Neighboring gene VISTA enhancer hs2063 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:84782671-84783171 Neighboring gene melanocortin 2 receptor accessory protein 2 Neighboring gene MPRA-validated peak5934 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:84936774-84937274 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:84937275-84937775 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:84953422-84954416 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:84954417-84955409 Neighboring gene Sharpr-MPRA regulatory region 143 Neighboring gene uncharacterized LOC107986621 Neighboring gene uncharacterized LOC107986620 Neighboring gene uncharacterized LOC107986619

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 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. CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis. Nuzhat N, et al. J Clin Invest, 2023 Apr 17. PMID 36862503, Free PMC Article
  2. The association of five polymorphisms with diabetic retinopathy in a Chinese population. Li H, et al. Ophthalmic Genet, 2023 Aug. PMID 37066695
  3. QN1/KIAA1009: a new essential protein for chromosome segregation and mitotic spindle assembly. Leon A, et al. Oncogene, 2006 Mar 23. PMID 16302001
  4. A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA. Awata T, et al. PLoS One, 2014. PMID 25364816, Free PMC Article
  5. Expression, cellular distribution and protein binding of the glioma amplified sequence (GAS41), a highly conserved putative transcription factor. Munnia A, et al. Oncogene, 2001 Aug 9. PMID 11521196

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
    Title: CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
  2. The association of five polymorphisms with diabetic retinopathy in a Chinese population.
    Title: The association of five polymorphisms with diabetic retinopathy in a Chinese population.
  3. CEP162 is an axoneme-recognition protein pre-tethered at centriole distal ends before ciliogenesis to promote and restrict transition zone formation specifically at the cilia base.
    Title: CEP162 is an axoneme-recognition protein promoting ciliary transition zone assembly at the cilia base.
  4. QN1/KIAA1009 is a new microtubule-associated ATPase involved in cell division
    Title: QN1/KIAA1009: a new essential protein for chromosome segregation and mitotic spindle assembly.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA.
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)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ13551, KIAA1009

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in axonemal microtubule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in axonemal microtubule IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in centriolar satellite IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
  
is_active_in centriole IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centriole IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in spindle IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
centrosomal protein of 162 kDa
Names
centrosomal protein 162kDa
protein QN1 homolog

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_001286206.2 → NP_001273135.1  centrosomal protein of 162 kDa isoform b

    See identical proteins and their annotated locations for NP_001273135.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon but includes a different alternate exon in the 5' region, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AB023226, AL138742, AW069289, BC063632, CD684914
    Consensus CDS
    CCDS69149.1
    UniProtKB/Swiss-Prot
    Q5TB80
    Related
    ENSP00000257766.4, ENST00000257766.8
    Conserved Domains (1) summary
    TIGR02168
    Location:596 → 1309
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  2. NM_014895.4 → NP_055710.2  centrosomal protein of 162 kDa isoform a

    See identical proteins and their annotated locations for NP_055710.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AB023226, AK308190, AL138742, AW069289, BC063632, CD684914
    Consensus CDS
    CCDS34494.2
    UniProtKB/Swiss-Prot
    A6PVL7, A6PVL8, Q5TB80, Q6P475, Q9Y2L2
    Related
    ENSP00000385215.3, ENST00000403245.8
    Conserved Domains (1) summary
    TIGR02168
    Location:672 → 1385
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    84124250..84227643 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248674.5 → XP_005248731.1  centrosomal protein of 162 kDa isoform X1

    See identical proteins and their annotated locations for XP_005248731.1

    Conserved Domains (1) summary
    TIGR02168
    Location:634 → 1347
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  2. XM_017010483.3 → XP_016865972.1  centrosomal protein of 162 kDa isoform X1

    Conserved Domains (1) summary
    TIGR02168
    Location:634 → 1347
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  3. XM_047418386.1 → XP_047274342.1  centrosomal protein of 162 kDa isoform X2

  4. XM_047418387.1 → XP_047274343.1  centrosomal protein of 162 kDa isoform X2

  5. XM_011535592.4 → XP_011533894.1  centrosomal protein of 162 kDa isoform X3

    Related
    ENST00000461137.5
    Conserved Domains (1) summary
    TIGR02168
    Location:283 → 996
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  6. XM_047418388.1 → XP_047274344.1  centrosomal protein of 162 kDa isoform X4

  7. XM_047418389.1 → XP_047274345.1  centrosomal protein of 162 kDa isoform X5

  8. XM_047418390.1 → XP_047274346.1  centrosomal protein of 162 kDa isoform X7

    Related
    ENST00000497936.5

  9. XM_011535594.3 → XP_011533896.1  centrosomal protein of 162 kDa isoform X6

RNA

  1. XR_007059227.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    85347546..85450937 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354679.1 → XP_054210654.1  centrosomal protein of 162 kDa isoform X1

  2. XM_054354680.1 → XP_054210655.1  centrosomal protein of 162 kDa isoform X1

  3. XM_054354681.1 → XP_054210656.1  centrosomal protein of 162 kDa isoform X2

  4. XM_054354682.1 → XP_054210657.1  centrosomal protein of 162 kDa isoform X2

  5. XM_054354683.1 → XP_054210658.1  centrosomal protein of 162 kDa isoform X3

  6. XM_054354684.1 → XP_054210659.1  centrosomal protein of 162 kDa isoform X4

  7. XM_054354685.1 → XP_054210660.1  centrosomal protein of 162 kDa isoform X5

  8. XM_054354687.1 → XP_054210662.1  centrosomal protein of 162 kDa isoform X7

  9. XM_054354686.1 → XP_054210661.1  centrosomal protein of 162 kDa isoform X6

RNA

  1. XR_008487285.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5TB80.2 GenPept UniProtKB/Swiss-Prot:Q5TB80

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