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    KNTC1 kinetochore associated 1 [ Homo sapiens (human) ]

    Gene ID: 9735, updated on 3-Nov-2024

    Summary

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    Official Symbol
    KNTC1provided by HGNC
    Official Full Name
    kinetochore associated 1provided by HGNC
    Primary source
    HGNC:HGNC:17255
    See related
    Ensembl:ENSG00000184445 MIM:607363; AllianceGenome:HGNC:17255
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ROD
    Summary
    This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. Experimental evidence indicated that the encoded protein functioned in a similar manner to that of the Drosophila rough deal protein. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 11.5), bone marrow (RPKM 8.4) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KNTC1 in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    67
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (122527249..122626396)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (122522498..122621883)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123011796..123110943)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7226 Neighboring gene zinc finger CCHC-type containing 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:122984447-122985138 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:122985139-122985832 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:122985833-122986524 Neighboring gene MPRA-validated peak2019 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5017 Neighboring gene arginine and serine rich coiled-coil 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7232 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123122624-123123524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7233 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7235 Neighboring gene uncharacterized LOC124903124 Neighboring gene microRNA 9902-1

    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. KNTC1 knockdown inhibits the proliferation and migration of osteosarcoma cells by MCM2.
      Title: KNTC1 knockdown inhibits the proliferation and migration of osteosarcoma cells by MCM2.
    2. The role of KNTC1 in the regulation of proliferation, migration and tumorigenesis in colorectal cancer.
      Title: The role of KNTC1 in the regulation of proliferation, migration and tumorigenesis in colorectal cancer.
    3. The infertile individual analysis based on whole-exome sequencing in chinese multi-ethnic groups.
      Title: The infertile individual analysis based on whole-exome sequencing in chinese multi-ethnic groups.
    4. Silencing of KNTC1 inhibits hepatocellular carcinoma cells progression via suppressing PI3K/Akt pathway.
      Title: Silencing of KNTC1 inhibits hepatocellular carcinoma cells progression via suppressing PI3K/Akt pathway.
    5. shRNAmediated knockdown of KNTC1 inhibits non-small-cell lung cancer through regulating PSMB8.
      Title: shRNA‑mediated knockdown of KNTC1 inhibits non-small-cell lung cancer through regulating PSMB8.
    6. Kinetochore-associated protein 1 promotes the invasion and tumorigenicity of cervical cancer cells via matrix metalloproteinase-2 and matrix metalloproteinase-9.
      Title: Kinetochore-associated protein 1 promotes the invasion and tumorigenicity of cervical cancer cells via matrix metalloproteinase-2 and matrix metalloproteinase-9.
    7. Knockdown of KNTC1 Inhibits the Proliferation, Migration and Tumorigenesis of Human Bladder Cancer Cells and Induces Apoptosis.
      Title: Knockdown of KNTC1 Inhibits the Proliferation, Migration and Tumorigenesis of Human Bladder Cancer Cells and Induces Apoptosis.
    8. Kinetochoreassociated protein 1 (KNTC1) is highly expressed in esophageal squamous cell carcinoma (ESCC) cell lines. Knockdown of KNTC1 effectively inhibits cell viability and increases apoptosis.
      Title: shRNA‑mediated knockdown of KNTC1 suppresses cell viability and induces apoptosis in esophageal squamous cell carcinoma.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    10. 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 See all GeneRIFs (11)

    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)

    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

    • FLJ36151, KIAA0166

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic sister chromatid segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic spindle assembly checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic spindle assembly checkpoint signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to kinetochore involved in kinetochore assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein-containing complex assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of attachment of spindle microtubules to kinetochore NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of exit from mitosis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of RZZ complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of RZZ complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of RZZ complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in kinetochore microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in kinetochore microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in kinetochore microtubule NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    kinetochore-associated protein 1
    Names
    Rough Deal homolog, centromere/kinetochore protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_046952.1 RefSeqGene

      Range
      5001..104148
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014708.6 → NP_055523.1  kinetochore-associated protein 1

      See identical proteins and their annotated locations for NP_055523.1

      Status: REVIEWED

      Source sequence(s)
      AC026333, AC127002
      Consensus CDS
      CCDS45002.1
      UniProtKB/Swiss-Prot
      A7E2C4, B3KSG2, P50748
      Related
      ENSP00000328236.6, ENST00000333479.12
      Conserved Domains (1) summary
      pfam10493
      Location:1583 → 2127
      Rod_C; Rough deal protein C-terminal region

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      122527249..122626396
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006719706.3 → XP_006719769.1  kinetochore-associated protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006719769.1

      UniProtKB/Swiss-Prot
      A7E2C4, B3KSG2, P50748
      Conserved Domains (1) summary
      pfam10493
      Location:1583 → 2127
      Rod_C; Rough deal protein C-terminal region

    2. XM_011539027.4 → XP_011537329.1  kinetochore-associated protein 1 isoform X2

      Conserved Domains (1) summary
      pfam10493
      Location:1583 → 2101
      Rod_C; Rough deal protein C-terminal region

    3. XM_017020254.3 → XP_016875743.1  kinetochore-associated protein 1 isoform X3

    4. XM_047429917.1 → XP_047285873.1  kinetochore-associated protein 1 isoform X4

    5. XM_017020255.3 → XP_016875744.1  kinetochore-associated protein 1 isoform X5

    6. XM_024449285.2 → XP_024305053.1  kinetochore-associated protein 1 isoform X10

    7. XM_011539029.4 → XP_011537331.1  kinetochore-associated protein 1 isoform X6

    8. XM_047429918.1 → XP_047285874.1  kinetochore-associated protein 1 isoform X9

    9. XM_011539030.1 → XP_011537332.1  kinetochore-associated protein 1 isoform X7

    10. XM_017020257.2 → XP_016875746.1  kinetochore-associated protein 1 isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      122522498..122621883
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373895.1 → XP_054229870.1  kinetochore-associated protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A7E2C4, B3KSG2, P50748

    2. XM_054373896.1 → XP_054229871.1  kinetochore-associated protein 1 isoform X2

    3. XM_054373897.1 → XP_054229872.1  kinetochore-associated protein 1 isoform X3

    4. XM_054373898.1 → XP_054229873.1  kinetochore-associated protein 1 isoform X4

    5. XM_054373899.1 → XP_054229874.1  kinetochore-associated protein 1 isoform X5

    6. XM_054373904.1 → XP_054229879.1  kinetochore-associated protein 1 isoform X10

    7. XM_054373900.1 → XP_054229875.1  kinetochore-associated protein 1 isoform X6

    8. XM_054373903.1 → XP_054229878.1  kinetochore-associated protein 1 isoform X9

    9. XM_054373901.1 → XP_054229876.1  kinetochore-associated protein 1 isoform X7

    10. XM_054373902.1 → XP_054229877.1  kinetochore-associated protein 1 isoform X8

    RNA

    1. XR_008488713.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P50748.1 GenPept UniProtKB/Swiss-Prot:P50748

    Gene LinkOut

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

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