Aliases for KASH5 Gene

Aliases for KASH5 Gene

  • KASH Domain Containing 5 2 3
  • Coiled-Coil Domain Containing 155 2 3 5
  • CCDC155 3 4 5
  • KASH Domain-Containing Protein 5 3 4
  • Protein KASH5 3 4
  • Coiled-Coil Domain-Containing Protein 155 4
  • FLJ32658 2

External Ids for KASH5 Gene

Previous HGNC Symbols for KASH5 Gene

  • CCDC155

Summaries for KASH5 Gene

GeneCards Summary for KASH5 Gene

KASH5 (KASH Domain Containing 5) is a Protein Coding gene. Diseases associated with KASH5 include Spermatogenic Failure 16 and Muscular Dystrophy, Congenital, Lmna-Related. An important paralog of this gene is SSH2.

UniProtKB/Swiss-Prot Summary for KASH5 Gene

  • As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Required for telomere attachment to nuclear envelope in the prophase of meiosis and for rapid telomere prophase movements implicating a SUN1/2:KASH5 LINC complex in which SUN1 and SUN2 seem to act at least partial redundantly. Required for homolog pairing during meiotic prophase in spermatocytes and probably oocytes. Essential for male and female gametogenesis. Recruits cytoplasmic dynein to telomere attachment sites at the nuclear envelope in spermatocytes. In oocytes is involved in meiotic resumption and spindle formation.

Additional gene information for KASH5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KASH5 Gene

Genomics for KASH5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KASH5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J049387 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 635.7 -0.1 -117 1 POLR2A NRF1 MGA EGR1 ZBTB2 NFRKB YY1 EP400 TRIM24 BCOR KASH5 ENSG00000268686 LOC101928295 HSALNG0126987 DKKL1 TEAD2
GH19J049359 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 32.6 -25.9 -25887 4.8 SP1 CREB1 CTCF PRDM10 ZNF629 REST TFE3 ZNF512 LEF1 IKZF1 DKKL1 TEAD2 KASH5 ENSG00000204666
GH19J049332 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 29.9 -52.7 -52691 5.4 SP1 IKZF1 POLR2A BACH1 ZNF143 RELA MTA1 REST SMAD5 NR2C1 CD37 NONHSAG026231.2 SLC6A16 DKKL1 KASH5 ALDH16A1 BCL2L12 FLT3LG IRF3 SNRNP70
GH19J049324 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 31.2 -60.7 -60705 9.4 SP1 GATAD2A CTCF PRDM10 SIX5 JUND PRDM1 ZNF143 REST IRF2 SLC6A16 piR-31199-164 KASH5 DKKL1 PTH2 PTOV1-AS2 CYTH2 PRR12 SNRNP70 ALDH16A1
GH19J049403 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 41.2 +15.6 15583 2 ZNF629 ZNF692 ZIC2 PATZ1 ZNF501 POLR2A ZNF600 ZNF341 ZNF561 ZBTB44 piR-45035-106 KASH5 DKKL1 piR-31243 PTH2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KASH5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KASH5

Genomic Locations for KASH5 Gene

Genomic Locations for KASH5 Gene
chr19:49,388,218-49,418,002
(GRCh38/hg38)
Size:
29,785 bases
Orientation:
Plus strand
chr19:49,891,475-49,921,256
(GRCh37/hg19)
Size:
29,782 bases
Orientation:
Plus strand

Genomic View for KASH5 Gene

Genes around KASH5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KASH5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KASH5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KASH5 Gene

Proteins for KASH5 Gene

  • Protein details for KASH5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N6L0-KASH5_HUMAN
    Recommended name:
    Protein KASH5
    Protein Accession:
    Q8N6L0
    Secondary Accessions:
    • Q96MC3

    Protein attributes for KASH5 Gene

    Size:
    562 amino acids
    Molecular mass:
    62783 Da
    Quaternary structure:
    • Core component the LINC complex which is composed of inner nuclear membrane SUN domain-containing proteins coupled to outer nuclear membrane KASH domain-containing nesprins. SUN and KASH domain-containing proteins seem to bind each other promiscuously; however, differentially expression of LINC complex constituents is giving rise to specific assemblies. At least SUN1/2-containing core LINC complexes are proposed to be hexameric composed of three protomers of each KASH and SUN domain-containing protein. Interacts (via the last 22 AA) with SUN1; this interaction mediates its telomere localization by forming a SUN1:KASH5 LINC complex. Component of a probable SUN2:KASH5 LINC complex. Self-associates. Interacts with DYNC1H1, DCTN1, DYNC1I1/2 and PAFAH1B1; suggesting the association with the dynein-dynactin motor complex.

neXtProt entry for KASH5 Gene

Post-translational modifications for KASH5 Gene

No Post-translational modifications

No data available for DME Specific Peptides for KASH5 Gene

Domains & Families for KASH5 Gene

Gene Families for KASH5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KASH5 Gene

Suggested Antigen Peptide Sequences for KASH5 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 155 (CC155_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N6L0

UniProtKB/Swiss-Prot:

KASH5_HUMAN :
  • The C-terminal 22 AA is required and sufficient for localization to telomeres at the nuclear envelope.
Domain:
  • The C-terminal 22 AA is required and sufficient for localization to telomeres at the nuclear envelope.
genes like me logo Genes that share domains with KASH5: view

Function for KASH5 Gene

Molecular function for KASH5 Gene

UniProtKB/Swiss-Prot Function:
As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Required for telomere attachment to nuclear envelope in the prophase of meiosis and for rapid telomere prophase movements implicating a SUN1/2:KASH5 LINC complex in which SUN1 and SUN2 seem to act at least partial redundantly. Required for homolog pairing during meiotic prophase in spermatocytes and probably oocytes. Essential for male and female gametogenesis. Recruits cytoplasmic dynein to telomere attachment sites at the nuclear envelope in spermatocytes. In oocytes is involved in meiotic resumption and spindle formation.

Phenotypes From GWAS Catalog for KASH5 Gene

Gene Ontology (GO) - Molecular Function for KASH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042802 identical protein binding IEA --
GO:0070840 dynein complex binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with KASH5: view
genes like me logo Genes that share phenotypes with KASH5: view

Animal Models for KASH5 Gene

MGI Knock Outs for KASH5:
  • Kash5 Kash5<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KASH5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for KASH5 Gene

Localization for KASH5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KASH5 Gene

Nucleus outer membrane. Single-pass type IV membrane protein. Cytoplasmic side. Nucleus. Chromosome, telomere. Note=Localized exclusively at telomeres from the leptotene to diplotene stages. Colocalizes with SUN2 at sites of telomere attachment in meiocytes. At oocyte MI stage localized around the spindle, at MII stage localized to the spindle poles. {ECO:0000250 UniProtKB:Q80VJ8}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KASH5 gene
Compartment Confidence
nucleus 4
cytoskeleton 3
golgi apparatus 2
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for KASH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region ISS --
GO:0000800 lateral element IEA,IBA 21873635
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
GO:0005640 nuclear outer membrane IEA,IBA 21873635
genes like me logo Genes that share ontologies with KASH5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KASH5 Gene

Pathways & Interactions for KASH5 Gene

PathCards logo

SuperPathways for KASH5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KASH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IEA --
GO:0007015 actin filament organization IEA,IBA 21873635
GO:0007129 synapsis IEA,IBA 21873635
GO:0007283 spermatogenesis IEA --
GO:0034397 telomere localization IEA,IBA 21873635
genes like me logo Genes that share ontologies with KASH5: view

No data available for Pathways by source and SIGNOR curated interactions for KASH5 Gene

Drugs & Compounds for KASH5 Gene

No Compound Related Data Available

Transcripts for KASH5 Gene

mRNA/cDNA for KASH5 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KASH5

Alternative Splicing Database (ASD) splice patterns (SP) for KASH5 Gene

No ASD Table

Relevant External Links for KASH5 Gene

GeneLoc Exon Structure for
KASH5

Expression for KASH5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KASH5

SOURCE GeneReport for Unigene cluster for KASH5 Gene:

Hs.662085

Evidence on tissue expression from TISSUES for KASH5 Gene

  • Nervous system(4.5)
  • Gall bladder(2.2)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KASH5 Gene

Orthologs for KASH5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KASH5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCDC155 30 31
  • 97.03 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC155 30 31
  • 85.16 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC155 30 31
  • 84.7 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc155 30
  • 77.88 (n)
Mouse
(Mus musculus)
Mammalia Ccdc155 30 31
  • 77.72 (n)
OneToOne
Kash5 17
Platypus
(Ornithorhynchus anatinus)
Mammalia CCDC155 31
  • 47 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCDC155 31
  • 42 (a)
OneToOne
Species where no ortholog for KASH5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for KASH5 Gene

ENSEMBL:
Gene Tree for KASH5 (if available)
TreeFam:
Gene Tree for KASH5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KASH5: view image

Paralogs for KASH5 Gene

Variants for KASH5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KASH5 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs10405154 - p.Arg129Gln
rs8102582 - p.Leu116Pro

Additional dbSNP identifiers (rs#s) for KASH5 Gene

Structural Variations from Database of Genomic Variants (DGV) for KASH5 Gene

Variant ID Type Subtype PubMed ID
dgv52n68 CNV loss 17160897
esv2718713 CNV deletion 23290073
esv2718714 CNV deletion 23290073
esv3644623 CNV loss 21293372
nsv138000 CNV insertion 16902084
nsv953599 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for KASH5 Gene

Residual Variation Intolerance Score: 73.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.21; 39.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KASH5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KASH5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KASH5 Gene

Disorders for KASH5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KASH5 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search KASH5 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with KASH5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KASH5 Gene

Publications for KASH5 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3
  4. An inter-species protein-protein interaction network across vast evolutionary distance. (PMID: 27107014) Zhong Q … Vidal M (Molecular systems biology 2016) 3
  5. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. (PMID: 27107012) Yachie N … Roth FP (Molecular systems biology 2016) 3

Products for KASH5 Gene

Sources for KASH5 Gene