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Aliases for KLHL14 Gene

Aliases for KLHL14 Gene

  • Kelch-Like Family Member 14 2 3
  • Printor 2 3 4 6
  • Protein Interactor Of Torsin-1A 3 4
  • Protein Interactor Of TorsinA 3 4
  • KIAA1384 4 6
  • Kelch-Like 14 (Drosophila) 2
  • Kelch-Like Protein 14 3
  • Kelch-Like 14 3

External Ids for KLHL14 Gene

Summaries for KLHL14 Gene

GeneCards Summary for KLHL14 Gene

KLHL14 (Kelch-Like Family Member 14) is a Protein Coding gene. An important paralog of this gene is KLHL36.

No data available for Entrez Gene 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

Genomic Location for KLHL14 Gene

Start:
32,672,671 bp from pter
End:
32,773,062 bp from pter
Size:
100,392 bases
Orientation:
Minus strand

Genomic View for KLHL14 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KLHL14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL14 Gene

Regulatory Elements 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

Proteomics data for KLHL14 Gene at MOPED

Post-translational modifications for KLHL14 Gene

No Post-translational modifications

Other Protein References for KLHL14 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLHL14 Gene

Domains for KLHL14 Gene

Gene Families for KLHL14 Gene

HGNC:
  • BTBD :BTB/POZ domain containing
  • KLHL :Kelch-like

UniProtKB/Swiss-Prot:

KLH14_HUMAN
Domain:
  • Contains 1 BACK (BTB/Kelch associated) domain.:
    • Q9P2G3
  • Contains 1 BTB (POZ) domain.:
    • Q9P2G3
Similarity:
  • Contains 6 Kelch repeats.:
    • Q9P2G3
genes like me logo Genes that share domains with KLHL14: view

Function for KLHL14 Gene

Gene Ontology (GO) - Molecular Function for KLHL14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with KLHL14: view

Phenotypes for KLHL14 Gene

GenomeRNAi human phenotypes for KLHL14:
genes like me logo Genes that share phenotypes with KLHL14: view

miRNA for KLHL14 Gene

miRTarBase miRNAs that target KLHL14

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for KLHL14 Gene COMPARTMENTS Subcellular localization image for KLHL14 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KLHL14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 19535332
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005829 cytosol IEA --
GO:0016020 membrane --
GO:0043005 neuron projection IEA --
genes like me logo Genes that share ontologies with KLHL14: view

Pathways for KLHL14 Gene

SuperPathways for KLHL14 Gene

No Data Available

Interacting Proteins for KLHL14 Gene

Gene Ontology (GO) - Biological Process for KLHL14 Gene

None

No data available for Pathways by source for KLHL14 Gene

Transcripts for KLHL14 Gene

mRNA/cDNA for KLHL14 Gene

Unigene Clusters for KLHL14 Gene

Kelch-like family member 14:
Representative Sequences:

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 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 (11.5) and Spleen (9.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KLHL14 Gene

SOURCE GeneReport for Unigene cluster for KLHL14 Gene Hs.446164

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

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 36
  • 99.72 (n)
  • 99.66 (a)
KLHL14 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KLHL14 36
  • 93.82 (n)
  • 97.28 (a)
KLHL14 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL14 36
  • 95.91 (n)
  • 98.41 (a)
KLHL14 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl14 36
  • 91.93 (n)
  • 98.09 (a)
Klhl14 16
Klhl14 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLHL14 37
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL14 37
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhl14 36
  • 92.36 (n)
  • 97.93 (a)
chicken
(Gallus gallus)
Aves KLHL14 36
  • 88.42 (n)
  • 96.75 (a)
KLHL14 37
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHL14 37
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl14 36
  • 81.42 (n)
  • 95.57 (a)
zebrafish
(Danio rerio)
Actinopterygii klhl14 36
  • 81.41 (n)
  • 91.58 (a)
klhl14 37
  • 90 (a)
OneToOne
Species with no ortholog for KLHL14:
  • 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

Selected SIMAP similar genes for KLHL14 Gene using alignment to 2 proteins:

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 Sequence Context AA Info Type MAF
rs330330 -- 32,678,222(+) GCTTC(A/G)TGCTC intron-variant
rs689520 -- 32,711,322(+) TAGGC(-/AAG)AACAT intron-variant
rs689521 -- 32,711,383(+) AAACT(A/G)GATWT intron-variant
rs689522 -- 32,711,387(+) TAGAT(A/T)TTATT intron-variant
rs689523 -- 32,711,485(+) CTTCT(C/T)AATAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv909526 CNV Gain 21882294
esv998622 CNV Deletion 20482838

Relevant External Links for KLHL14 Gene

HapMap Linkage Disequilibrium report
KLHL14

Disorders for KLHL14 Gene

Relevant External Links for KLHL14

Genetic Association Database (GAD)
KLHL14
Human Genome Epidemiology (HuGE) Navigator
KLHL14
genes like me logo Genes that share disorders with KLHL14: view

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

Publications for KLHL14 Gene

  1. Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis. (PMID: 19535332) Giles L.M. … Chin L.S. (J. Biol. Chem. 2009) 2 3 4
  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 Res. 2000) 2 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  4. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PMID: 22939624) Taipale M. … Lindquist S. (Cell 2012) 3
  5. Regulation of Torsin ATPases by LAP1 and LULL1. (PMID: 23569223) Zhao C. … Schlieker C. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3

Products for KLHL14 Gene

Sources for KLHL14 Gene

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