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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
    mouse all
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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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    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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    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

    Gene LinkOut

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