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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 Family Member 14 3
  • Kelch-Like 14 (Drosophila) 2
  • 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 KLHL36.

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

Genomics for KLHL14 Gene

Regulatory Elements for KLHL14 Gene

Promoters for KLHL14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KLHL14 on UCSC Golden Path with GeneCards custom track

Genomic Location for KLHL14 Gene

Chromosome:
18
Start:
32,672,668 bp from pter
End:
32,773,062 bp from pter
Size:
100,395 bases
Orientation:
Minus strand

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

Proteomics data for KLHL14 Gene at MOPED

Post-translational modifications for KLHL14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLHL14 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for KLHL14 Gene

Domains & Families for KLHL14 Gene

Gene Families for KLHL14 Gene

Protein Domains for KLHL14 Gene

Suggested Antigen Peptide Sequences for KLHL14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P2G3

UniProtKB/Swiss-Prot:

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

Function for KLHL14 Gene

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

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for KLHL14 Gene COMPARTMENTS Subcellular localization image for KLHL14 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 4
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KLHL14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
GO:0043025 neuronal cell body IBA --
genes like me logo Genes that share ontologies with KLHL14: view

Pathways & Interactions 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 and SIGNOR curated interactions for KLHL14 Gene

Drugs & Compounds for KLHL14 Gene

No Compound Related Data Available

Transcripts 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 (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, MOPED, and MaxQB for KLHL14 Gene



SOURCE GeneReport for Unigene cluster for KLHL14 Gene Hs.446164

genes like me logo Genes that share expression patterns with KLHL14: view

Protein tissue co-expression partners for KLHL14 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia KLHL14 35
  • 93.82 (n)
  • 97.28 (a)
KLHL14 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL14 35
  • 95.91 (n)
  • 98.41 (a)
KLHL14 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl14 35
  • 91.93 (n)
  • 98.09 (a)
Klhl14 16
Klhl14 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KLHL14 35
  • 99.72 (n)
  • 99.66 (a)
KLHL14 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhl14 35
  • 92.36 (n)
  • 97.93 (a)
oppossum
(Monodelphis domestica)
Mammalia KLHL14 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL14 36
  • 98 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLHL14 35
  • 88.42 (n)
  • 96.75 (a)
KLHL14 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHL14 36
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl14 35
  • 81.42 (n)
  • 95.57 (a)
zebrafish
(Danio rerio)
Actinopterygii klhl14 35
  • 81.41 (n)
  • 91.58 (a)
klhl14 36
  • 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

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
rs330330 -- 32,678,222(+) GCTTC(A/G)TGCTC intron-variant
rs749676 -- 32,759,328(-) CACAA(C/T)GTGAG intron-variant
rs765378 -- 32,763,168(+) TTATT(A/T)AAAGT intron-variant
rs765379 -- 32,763,253(+) ATTCA(A/G)AACTA intron-variant
rs714776 -- 32,755,420(-) CCTAG(C/T)GCACT 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

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)

Relevant External Links for KLHL14 Gene

HapMap Linkage Disequilibrium report
KLHL14

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

Disorders for KLHL14 Gene

Relevant External Links for KLHL14

Genetic Association Database (GAD)
KLHL14
Human Genome Epidemiology (HuGE) Navigator
KLHL14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLHL14

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 L.M. … Chin L.S. (J. Biol. Chem. 2009) 2 3 4 67
  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
  3. The mutational pattern of primary lymphoma of the central nervous system determined by whole-exome sequencing. (PMID: 25189415) Vater I. … Siebert R. (Leukemia 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 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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