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KNTC1 kinetochore associated 1 [ Homo sapiens (human) ]

Gene ID: 9735, updated on 17-Jun-2019

Summary

Official Symbol
KNTC1provided by HGNC
Official Full Name
kinetochore associated 1provided by HGNC
Primary source
HGNC:HGNC:17255
See related
Ensembl:ENSG00000184445 MIM:607363
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

Genomic context

See KNTC1 in Genome Data Viewer
Location:
12q24.31
Exon count:
68
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (122527106..122626409)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123011796..123110947)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene zinc finger CCHC-type containing 8 Neighboring gene arginine and serine rich coiled-coil 2 Neighboring gene microRNA 9902-1 Neighboring gene hydroxycarboxylic acid receptor 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
    Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
  • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
    Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36151, KIAA0166

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell division IEA
Inferred from Electronic Annotation
more info
 
mitotic cell cycle checkpoint IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex assembly NAS
Non-traceable Author Statement
more info
PubMed 
regulation of exit from mitosis NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
RZZ complex IDA
Inferred from Direct Assay
more info
PubMed 
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
kinetochore microtubule IDA
Inferred from Direct Assay
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
spindle pole IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    4998..104151
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014708.6NP_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
    P50748
    Related
    ENSP00000328236.6, ENST00000333479.12
    Conserved Domains (1) summary
    pfam10493
    Location:15832127
    Rod_C; Rough deal protein C-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    122527106..122626409
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020255.2XP_016875744.1  kinetochore-associated protein 1 isoform X4

  2. XM_006719706.2XP_006719769.1  kinetochore-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006719769.1

    UniProtKB/Swiss-Prot
    P50748
    Conserved Domains (1) summary
    pfam10493
    Location:15832127
    Rod_C; Rough deal protein C-terminal region
  3. XM_011539027.3XP_011537329.1  kinetochore-associated protein 1 isoform X2

    Conserved Domains (1) summary
    pfam10493
    Location:15832101
    Rod_C; Rough deal protein C-terminal region
  4. XM_017020254.2XP_016875743.1  kinetochore-associated protein 1 isoform X3

  5. XM_024449285.1XP_024305053.1  kinetochore-associated protein 1 isoform X9

  6. XM_011539029.3XP_011537331.1  kinetochore-associated protein 1 isoform X5

  7. XM_011539030.1XP_011537332.1  kinetochore-associated protein 1 isoform X7

  8. XM_017020257.1XP_016875746.1  kinetochore-associated protein 1 isoform X8

  9. XM_017020256.2XP_016875745.1  kinetochore-associated protein 1 isoform X6

RNA

  1. XR_944844.3 RNA Sequence

  2. XR_944845.3 RNA Sequence

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