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    ZWILCH zwilch kinetochore protein [ Homo sapiens (human) ]

    Gene ID: 55055, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZWILCHprovided by HGNC
    Official Full Name
    zwilch kinetochore proteinprovided by HGNC
    Primary source
    HGNC:HGNC:25468
    See related
    Ensembl:ENSG00000174442 MIM:609984; AllianceGenome:HGNC:25468
    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
    Summary
    Involved in mitotic spindle assembly checkpoint signaling and protein localization to kinetochore. Located in kinetochore. Part of RZZ complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in testis (RPKM 32.5), lymph node (RPKM 6.0) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZWILCH in Genome Data Viewer
    Location:
    15q22.31
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (66505326..66550130)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (64326800..64371623)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (66797664..66842468)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:66795563-66796062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9616 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 Sharpr-MPRA regulatory region 674 Neighboring gene lactase like Neighboring gene long intergenic non-protein coding RNA 1169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66886299-66886800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66886801-66887300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66909444-66910022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66910023-66910601 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:66914309-66914837 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:66914838-66915365 Neighboring gene Sharpr-MPRA regulatory region 14643 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:66965231-66965789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:66965790-66966347 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:66969772-66970272 Neighboring gene Sharpr-MPRA regulatory region 4382 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:66992708-66993208 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:66993253-66993439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6568 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:66998965-66999484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:67004109-67004608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:67014656-67015156 Neighboring gene SMAD family member 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:67026431-67026931 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:67034899-67035399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67036859-67037484 Neighboring gene Sharpr-MPRA regulatory region 14210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:67050021-67050579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:67055291-67056020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67057907-67058476 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67058477-67059045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:67062107-67062668 Neighboring gene HNF4 motif-containing MPRA enhancer 143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9617

    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. Complex assembly, crystallization and preliminary X-ray crystallographic analysis of the human Rod-Zwilch-ZW10 (RZZ) complex. Altenfeld A, et al. Acta Crystallogr F Struct Biol Commun, 2015 Apr. PMID 25849506, Free PMC Article
    2. Structure of the RZZ complex and molecular basis of its interaction with Spindly. Mosalaganti S, et al. J Cell Biol, 2017 Apr 3. PMID 28320825, Free PMC Article
    3. Single nucleotide polymorphisms in chromosomal instability genes and risk and clinical outcome of breast cancer: a Swedish prospective case-control study. Brendle A, et al. Eur J Cancer, 2009 Feb. PMID 19008095
    4. Structural analysis of the RZZ complex reveals common ancestry with multisubunit vesicle tethering machinery. Civril F, et al. Structure, 2010 May 12. PMID 20462495
    5. Zwilch, a new component of the ZW10/ROD complex required for kinetochore functions. Williams BC, et al. Mol Biol Cell, 2003 Apr. PMID 12686595, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    2. Other name: HZwilch. Homologue of Drosophila Zwilch (CG18729). Localizes to the kinetochore during prometaphase and metaphase of HeLa cells. Complexed with human ROD and human ZW10, similar to situation in Drosophila.
      Title: Zwilch, a new component of the ZW10/ROD complex required for kinetochore functions.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    • FLJ10036, FLJ16343, MGC111034

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to kinetochore IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of attachment of spindle microtubules to kinetochore 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 cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in kinetochore microtubule NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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

    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.

    mRNA and Protein(s)

    1. NM_001287821.2 → NP_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/TrEMBL
      A8K4T3
      Related
      ENSP00000402217.2, ENST00000446801.6
      Conserved Domains (1) summary
      pfam09817
      Location:1 → 459
      DUF2352; Uncharacterized conserved protein (DUF2352)

    2. NM_001287822.2 → NP_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/TrEMBL
      A8K4T3
      Related
      ENSP00000477955.1, ENST00000613446.4
      Conserved Domains (1) summary
      pfam09817
      Location:1 → 459
      DUF2352; Uncharacterized conserved protein (DUF2352)

    3. NM_001287823.2 → NP_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/TrEMBL
      A8K4T3
      Related
      ENSP00000437749.2, ENST00000535141.6
      Conserved Domains (1) summary
      pfam09817
      Location:1 → 459
      DUF2352; Uncharacterized conserved protein (DUF2352)

    4. NM_017975.5 → NP_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
      B3KVB8, Q6N049, Q8N404, Q96SY7, Q9H900, Q9NWG7
      UniProtKB/TrEMBL
      A8K4T3
      Related
      ENSP00000311429.5, ENST00000307897.10
      Conserved Domains (1) summary
      pfam09817
      Location:31 → 584
      DUF2352; Uncharacterized conserved protein (DUF2352)

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      66505326..66550130
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001751344.3 RNA Sequence

    2. XR_007064470.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      64326800..64371623
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008488982.1 RNA Sequence

    2. XR_008488983.1 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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H900.2 GenPept UniProtKB/Swiss-Prot:Q9H900

    Gene LinkOut

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

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