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ZWILCH zwilch kinetochore protein [ Homo sapiens (human) ]

Gene ID: 55055, updated on 17-Jun-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
109.20190607 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

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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