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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
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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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Related articles in PubMed

  1. Knockdown of KNTC1 Inhibits the Proliferation, Migration and Tumorigenesis of Human Bladder Cancer Cells and Induces Apoptosis. Huang H, et al. Crit Rev Eukaryot Gene Expr, 2021. PMID 33639055
  2. shRNA‑mediated knockdown of KNTC1 suppresses cell viability and induces apoptosis in esophageal squamous cell carcinoma. Liu CT, et al. Int J Oncol, 2019 Mar. PMID 30628654
  3. The role of KNTC1 in the regulation of proliferation, migration and tumorigenesis in colorectal cancer. Wang J, et al. Cell Signal, 2023 Aug. PMID 37230198
  4. The infertile individual analysis based on whole-exome sequencing in chinese multi-ethnic groups. Zhao Q, et al. Genes Genomics, 2023 Apr. PMID 36115009
  5. Silencing of KNTC1 inhibits hepatocellular carcinoma cells progression via suppressing PI3K/Akt pathway. Tong H, et al. Cell Signal, 2023 Jan. PMID 36273753

See all (61) citations in PubMed

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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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

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