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Aliases for KLHL14 Gene

Aliases for KLHL14 Gene

  • Kelch Like Family Member 14 2 3 5
  • Printor 2 3 4
  • Protein Interactor Of Torsin-1A 3 4
  • Protein Interactor Of TorsinA 4
  • Kelch-Like 14 (Drosophila) 2
  • Kelch-Like Protein 14 3
  • Kelch-Like 14 3
  • KIAA1384 4

External Ids for KLHL14 Gene

Previous GeneCards Identifiers for KLHL14 Gene

  • GC18M028505
  • GC18M028506
  • GC18M030252
  • GC18M027110

Summaries for KLHL14 Gene

Entrez Gene Summary for KLHL14 Gene

  • The protein encoded by this gene is a member of the Kelch-like gene family, whose members contain a BTB/POZ domain, a BACK domain, and several Kelch domains. The encoded protein possesses six Kelch domains and localizes to the endoplasmic reticulum, where it interacts with torsin-1A. [provided by RefSeq, Sep 2015]

GeneCards Summary for KLHL14 Gene

KLHL14 (Kelch Like Family Member 14) is a Protein Coding gene. An important paralog of this gene is KLHL13.

Additional gene information for KLHL14 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL14 Gene

Genomics for KLHL14 Gene

GeneHancer (GH) Regulatory Elements for KLHL14 Gene

Promoters and enhancers for KLHL14 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
GH18I032768 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 556 +2.5 2532 4.8 ELF3 FOXA2 ZFP64 ZSCAN4 ARID4B ZNF48 RARA ZNF335 GLIS2 ZNF366 KLHL14 LOC105372055
GH18I032773 Promoter 0.7 EPDnew 550.8 -0.1 -117 0.1 PRDM4 EZH2 KLHL14 LOC105372055 RPS27P28
GH18I032774 Enhancer 0.6 UCNEbase 550.8 -0.3 -316 0.3 ZNF341 EZH2 KLHL14 LOC105372055 RPS27P28
GH18I032801 Enhancer 1.1 ENCODE dbSUPER 16.8 -30.5 -30461 3.3 FOXA2 MLX ARID4B ZNF48 ETS1 SLC30A9 ATF7 SP5 ZHX2 MIER2 GC18M032787 KLHL14 LOC105372058
GH18I032742 Enhancer 0.5 UCNEbase 17 +30.7 30681 0.3 ZNF398 GC18M032739 KLHL14 ENSG00000263688
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KLHL14 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLHL14 gene promoter:

Genomic Locations for KLHL14 Gene

Genomic Locations for KLHL14 Gene
chr18:32,672,668-32,773,062
(GRCh38/hg38)
Size:
100,395 bases
Orientation:
Minus strand
chr18:30,252,634-30,353,025
(GRCh37/hg19)

Genomic View for KLHL14 Gene

Genes around KLHL14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL14 Gene

Proteins for KLHL14 Gene

  • Protein details for KLHL14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2G3-KLH14_HUMAN
    Recommended name:
    Kelch-like protein 14
    Protein Accession:
    Q9P2G3
    Secondary Accessions:
    • A6NNW1
    • B4DHA0
    • Q8WU41

    Protein attributes for KLHL14 Gene

    Size:
    628 amino acids
    Molecular mass:
    70714 Da
    Quaternary structure:
    • Interacts with TOR1A, preferentially with the ATP-free form.
    SequenceCaution:
    • Sequence=BAA92622.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAG58061.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for KLHL14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLHL14 Gene

Post-translational modifications for KLHL14 Gene

No Post-translational modifications

Other Protein References for KLHL14 Gene

No data available for DME Specific Peptides for KLHL14 Gene

Domains & Families for KLHL14 Gene

Gene Families for KLHL14 Gene

Suggested Antigen Peptide Sequences for KLHL14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLHL14: view

No data available for UniProtKB/Swiss-Prot for KLHL14 Gene

Function for KLHL14 Gene

Phenotypes From GWAS Catalog for KLHL14 Gene

Gene Ontology (GO) - Molecular Function for KLHL14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
genes like me logo Genes that share ontologies with KLHL14: view
genes like me logo Genes that share phenotypes with KLHL14: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL14 Gene

Localization for KLHL14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL14 Gene

Cytoplasm, cytosol. Endoplasmic reticulum membrane. Note=Colocalizes with TOR1A at the endoplasmic reticulum level.

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 KLHL14 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 5
cytoskeleton 4
nucleus 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Actin filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KLHL14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IDA 19535332
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005829 cytosol IDA,IEA --
GO:0015629 actin cytoskeleton IDA --
genes like me logo Genes that share ontologies with KLHL14: view

Pathways & Interactions for KLHL14 Gene

SuperPathways for KLHL14 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KLHL14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with KLHL14: view

No data available for Pathways by source and SIGNOR curated interactions for KLHL14 Gene

Drugs & Compounds for KLHL14 Gene

No Compound Related Data Available

Transcripts for KLHL14 Gene

mRNA/cDNA for KLHL14 Gene

Unigene Clusters for KLHL14 Gene

Kelch-like family member 14:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL14 Gene

No ASD Table

Relevant External Links for KLHL14 Gene

GeneLoc Exon Structure for
KLHL14
ECgene alternative splicing isoforms for
KLHL14

Expression for KLHL14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLHL14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLHL14 Gene

This gene is overexpressed in Thyroid (x11.5) and Spleen (x9.3).

Protein differential expression in normal tissues from HIPED for KLHL14 Gene

This gene is overexpressed in Blymphocyte (47.0) and Retina (22.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KLHL14 Gene



Protein tissue co-expression partners for KLHL14 Gene

NURSA nuclear receptor signaling pathways regulating expression of KLHL14 Gene:

KLHL14

SOURCE GeneReport for Unigene cluster for KLHL14 Gene:

Hs.446164

Evidence on tissue expression from TISSUES for KLHL14 Gene

  • Nervous system(4.3)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with KLHL14: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL14 Gene

Orthologs for KLHL14 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL14 33 34
  • 99.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL14 34
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLHL14 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL14 33 34
  • 95.91 (n)
cow
(Bos Taurus)
Mammalia KLHL14 33 34
  • 93.82 (n)
rat
(Rattus norvegicus)
Mammalia Klhl14 33
  • 92.36 (n)
mouse
(Mus musculus)
Mammalia Klhl14 33 16 34
  • 91.93 (n)
chicken
(Gallus gallus)
Aves KLHL14 33 34
  • 88.42 (n)
lizard
(Anolis carolinensis)
Reptilia KLHL14 34
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl14 33
  • 81.42 (n)
zebrafish
(Danio rerio)
Actinopterygii klhl14 33 34
  • 81.41 (n)
Species where no ortholog for KLHL14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • 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 squirt (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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KLHL14 Gene

ENSEMBL:
Gene Tree for KLHL14 (if available)
TreeFam:
Gene Tree for KLHL14 (if available)

Paralogs for KLHL14 Gene

genes like me logo Genes that share paralogs with KLHL14: view

Variants for KLHL14 Gene

Sequence variations from dbSNP and Humsavar for KLHL14 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000001090 -- 32,749,273(-) C/T intron_variant
rs1000001745 -- 32,736,055(-) T/C 3_prime_UTR_variant, intron_variant
rs1000020346 -- 32,691,569(-) C/G/T genic_downstream_transcript_variant, intron_variant
rs1000032593 -- 32,766,225(-) T/C intron_variant
rs1000056573 -- 32,749,815(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KLHL14 Gene

Variant ID Type Subtype PubMed ID
dgv3330n100 CNV gain 25217958
dgv3331n100 CNV gain 25217958
dgv3332n100 CNV gain 25217958
esv998622 CNV deletion 20482838
nsv1071449 CNV deletion 25765185
nsv1138618 CNV deletion 24896259
nsv953529 CNV deletion 24416366

Variation tolerance for KLHL14 Gene

Residual Variation Intolerance Score: 5.08% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.37; 27.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLHL14 Gene

Human Gene Mutation Database (HGMD)
KLHL14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL14 Gene

Disorders for KLHL14 Gene

Additional Disease Information for KLHL14

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for KLHL14 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLHL14 Gene

Publications for KLHL14 Gene

  1. Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis. (PMID: 19535332) Giles LM … Chin LS (The Journal of biological chemistry 2009) 2 3 4 58
  2. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for KLHL14 Gene

Sources for KLHL14 Gene

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