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    KNCN kinocilin [ Homo sapiens (human) ]

    Gene ID: 148930, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KNCNprovided by HGNC
    Official Full Name
    kinocilinprovided by HGNC
    Primary source
    HGNC:HGNC:26488
    See related
    Ensembl:ENSG00000162456 MIM:611455; AllianceGenome:HGNC:26488
    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
    L5; Kino
    Summary
    Predicted to be located in several cellular components, including apical part of cell; cytoplasm; and microtubule cytoskeleton. Predicted to be active in several cellular components, including apical plasma membrane; cytoskeleton; and kinocilium. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See KNCN in Genome Data Viewer
    Location:
    1p33
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (46545641..46551647, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (46422873..46428884, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47011313..47017319, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46955716-46956520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46957329-46957982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46957983-46958634 Neighboring gene diencephalon/mesencephalon homeobox 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46977425-46978070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46982609-46983460 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr1:46987892-46988843 and GRCh37_chr1:46988844-46989794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46989795-46990745 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:46990746-46991695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 846 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 847 Neighboring gene CRISPRi-validated cis-regulatory element chr1.5857 Neighboring gene transmembrane protein 275 Neighboring gene MKNK1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47013004-47013504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47013505-47014005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47015442-47016081 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47021539-47022040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47022041-47022540 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:47024335-47024504 Neighboring gene MAPK interacting serine/threonine kinase 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:47069254-47069754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 848 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47078933-47079556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1005 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 849 Neighboring gene MOB kinase activator 3C

    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. Initial characterization of kinocilin, a protein of the hair cell kinocilium. Leibovici M, et al. Hear Res, 2005 May. PMID 15855039
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32011, MGC120370, MGC120371, MGC120372

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cuticular plate IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in kinocilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    kinocilin

    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_001097611.1 → NP_001091080.1  kinocilin isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL136373, DA208279, DB324949
      Consensus CDS
      CCDS44133.1
      UniProtKB/Swiss-Prot
      A6PVL3
      Related
      ENSP00000379607.3, ENST00000396314.3
      Conserved Domains (1) summary
      pfam15033
      Location:1 → 93
      Kinocilin; Kinocilin protein

    2. NM_001322255.2 → NP_001309184.1  kinocilin isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL136373
      Consensus CDS
      CCDS81316.1
      UniProtKB/Swiss-Prot
      A6PVL3, A8MXE3
      Related
      ENSP00000419705.3, ENST00000481882.7
      Conserved Domains (1) summary
      pfam15033
      Location:1 → 116
      Kinocilin; Kinocilin protein

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      46545641..46551647 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      46422873..46428884 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_182516.1: Suppressed sequence

      Description
      NM_182516.1: This RefSeq was permanently suppressed because it contains the wrong CDS.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6PVL3.1 GenPept UniProtKB/Swiss-Prot:A6PVL3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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