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ZWILCH zwilch kinetochore protein [ Homo sapiens (human) ]

Gene ID: 55055, updated on 1-Jun-2020

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
109.20200522 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 PubChem

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 Updated 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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