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    ZWILCH zwilch kinetochore protein [ Homo sapiens (human) ]

    Gene ID: 55055, updated on 12-Oct-2019

    Summary

    Official Symbol
    ZWILCHprovided by HGNC
    Official Full Name
    zwilch kinetochore proteinprovided by HGNC
    Primary source
    HGNC:HGNC:25468
    See related
    Ensembl:ENSG00000174442 MIM:609984
    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
    KNTC1AP; hZwilch
    Expression
    Broad expression in testis (RPKM 32.5), lymph node (RPKM 6.0) and 19 other tissues See more
    Orthologs

    Genomic context

    See ZWILCH in Genome Data Viewer
    Location:
    15q22.31
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20190905 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (66505083..66550130)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (66797431..66841823)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 18A Neighboring gene small nucleolar RNA, C/D box 16 Neighboring gene ribosomal protein L4 Neighboring gene lactase like Neighboring gene long intergenic non-protein coding RNA 1169 Neighboring gene SMAD family member 6 Neighboring gene HNF4 motif-containing MPRA enhancer 143

    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

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2019-04-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated (2019-04-24)

    ClinGen Genome Curation PagePubMed

    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

    • FLJ10036, FLJ16343, MGC111034

    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    RZZ complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    condensed chromosome kinetochore IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein zwilch homolog
    Names
    Zwilch, kinetochore associated, homolog
    homolog of Drosophila Zwilch

    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.

    mRNA and Protein(s)

    1. NM_001287821.2NP_001274750.1  protein zwilch homolog isoform 2

      See identical proteins and their annotated locations for NP_001274750.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site at an internal exon, compared to variant 1. This difference results in predicted translation initiation at a downstream in-frame start site through ribosomal re-initiation or leaky scanning. The encoded isoform (2) is shorter than isoform 1. Variants 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AC116913, BQ775697, BX640701
      Consensus CDS
      CCDS73746.1
      UniProtKB/Swiss-Prot
      Q9H900
      Related
      ENSP00000402217.2, ENST00000446801.6
      Conserved Domains (1) summary
      pfam09817
      Location:1459
      DUF2352; Uncharacterized conserved protein (DUF2352)
    2. NM_001287822.1NP_001274751.1  protein zwilch homolog isoform 2

      See identical proteins and their annotated locations for NP_001274751.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site at an internal exon and lacks an exon, compared to variant 1. These differences result in predicted translation initiation at a downstream in-frame start site through ribosomal re-initiation or leaky scanning. The encoded isoform (2) is shorter than isoform 1. Variants 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AC116913, AK122787, BC036900, BQ775697
      Consensus CDS
      CCDS73746.1
      UniProtKB/Swiss-Prot
      Q9H900
      Related
      ENSP00000477955.1, ENST00000613446.4
      Conserved Domains (1) summary
      pfam09817
      Location:1459
      DUF2352; Uncharacterized conserved protein (DUF2352)
    3. NM_001287823.2NP_001274752.1  protein zwilch homolog isoform 2

      See identical proteins and their annotated locations for NP_001274752.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an internal exon, compared to variant 1. This difference results in predicted translation initiation at a downstream in-frame start site through ribosomal re-initiation or leaky scanning. The encoded isoform (2) is shorter than isoform 1. Variants 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AC116913, AK291048, BC036900, BQ775697
      Consensus CDS
      CCDS73746.1
      UniProtKB/Swiss-Prot
      Q9H900
      UniProtKB/TrEMBL
      A8K4T3
      Related
      ENSP00000437749.2, ENST00000535141.6
      Conserved Domains (1) summary
      pfam09817
      Location:1459
      DUF2352; Uncharacterized conserved protein (DUF2352)
    4. NM_017975.5NP_060445.3  protein zwilch homolog isoform 1

      See identical proteins and their annotated locations for NP_060445.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC116913, BC036900, BQ775697
      Consensus CDS
      CCDS10219.1
      UniProtKB/Swiss-Prot
      Q9H900
      Related
      ENSP00000311429.5, ENST00000307897.10
      Conserved Domains (1) summary
      pfam09817
      Location:31584
      DUF2352; Uncharacterized conserved protein (DUF2352)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      66505083..66550130
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001751345.2 RNA Sequence

    2. XR_001751344.2 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_003105.1: Suppressed sequence

      Description
      NR_003105.1: This RefSeq was permanently suppressed because it is now thought that this transcript does encode a protein.
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