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ZWILCH zwilch kinetochore protein [ Homo sapiens (human) ]

Gene ID: 55055, updated on 3-Nov-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, Nov 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 (26) 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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