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    KNL1 kinetochore scaffold 1 [ Homo sapiens (human) ]

    Gene ID: 57082, updated on 22-May-2018
    Official Symbol
    KNL1provided by HGNC
    Official Full Name
    kinetochore scaffold 1provided by HGNC
    Primary source
    HGNC:HGNC:24054
    See related
    Ensembl:ENSG00000137812 MIM:609173; Vega:OTTHUMG00000166532
    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
    D40; CT29; Spc7; CASC5; MCPH4; hKNL-1; AF15Q14; PPP1R55; hSpc105
    Summary
    The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013]
    Expression
    Biased expression in testis (RPKM 14.1), bone marrow (RPKM 2.9) and 6 other tissues See more
    Orthologs
    See KNL1 in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (40594012..40664342)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40886447..40954881)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene RNA pseudouridylate synthase domain containing 2 Neighboring gene transfer RNA-Ser (GCT) 4-2 Neighboring gene RNA, 7SL, cytoplasmic 376, pseudogene Neighboring gene RAD51 antisense RNA 1 (head to head) Neighboring gene RAD51 recombinase Neighboring gene regulator of microtubule dynamics 3

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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...
    • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
      Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
    • Deposition of new CENPA-containing nucleosomes at the centromere, organism-specific biosystem (from REACTOME)
      Deposition of new CENPA-containing nucleosomes at the centromere, organism-specific biosystemEukaryotic centromeres are marked by a unique form of histone H3, designated CENPA in humans. In human cells newly synthesized CENPA is deposited in nucleosomes at the centromere during late telophas...
    • 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...
    • Nucleosome assembly, organism-specific biosystem (from REACTOME)
      Nucleosome assembly, organism-specific biosystemThe formation of centromeric chromatin assembly outside the context of DNA replication involves the assembly of nucleosomes containing the histone H3 variant CenH3 (also called CENP-A).
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA1570

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    CENP-A containing nucleosome assembly TAS
    Traceable Author Statement
    more info
     
    acrosome assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    attachment of spindle microtubules to kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein localization to kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    acrosomal vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    condensed chromosome kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    nuclear body IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    kinetochore scaffold 1
    Names
    ALL1-fused gene from chromosome 15q14 protein
    blinkin, bub-linking kinetochore protein
    cancer susceptibility candidate 5
    cancer susceptibility candidate gene 5 protein
    cancer/testis antigen 29
    kinetochore null 1 homolog
    kinetochore-null protein 1
    microcephaly, primary autosomal recessive 4
    protein phosphatase 1, regulatory subunit 55

    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_033114.1 RefSeqGene

      Range
      5001..73435
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_144508.4NP_653091.3  kinetochore scaffold 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AB046790, AC022405, AF461041, BC014306
      Consensus CDS
      CCDS42024.1
      UniProtKB/Swiss-Prot
      Q8NG31
      Related
      ENSP00000382576.2, OTTHUMP00000233262, ENST00000399668.6, OTTHUMT00000390226
      Conserved Domains (1) summary
      cl12013
      Location:19812105
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    2. NM_170589.4NP_733468.3  kinetochore scaffold 1 isoform 1

      See identical proteins and their annotated locations for NP_733468.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB046790, AC022405, AF173994, AF461041, BC014306
      Consensus CDS
      CCDS42023.1
      UniProtKB/Swiss-Prot
      Q8NG31
      Related
      ENSP00000335463.6, OTTHUMP00000233260, ENST00000346991.9, OTTHUMT00000390224
      Conserved Domains (2) summary
      pfam13900
      Location:91109
      GVQW; Putative domain of unknown function
      cl12013
      Location:20072131
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

      Range
      40594012..40664342
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022432.1XP_016877921.1  kinetochore scaffold 1 isoform X1

      Conserved Domains (1) summary
      pfam13863
      Location:19101997
      DUF4200; Domain of unknown function (DUF4200)
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