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] See more...

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
  • Kelch-Like Protein 14 3 4
  • Protein Interactor Of TorsinA 4
  • 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. Diseases associated with KLHL14 include Dystonia. An important paralog of this gene is KLHL9.

Additional gene information for KLHL14 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
GH18J032768 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 506.7 +3.0 3004 6.4 POLR2G ZBTB26 SAP30 ATF2 ZNF341 SIN3A PCBP1 KLF9 SRSF1 FOXA2 KLHL14 ENSG00000228835 LOC105372055
GH18J032774 Enhancer 0.6 UCNEbase 500.7 -0.4 -355 0.3 ZNF341 RBM22 PRPF4 ZNF596 EZH2 LOC105372055 KLHL14 ENSG00000228835 lnc-MEP1B-6 RPS27P28
GH18J032775 Enhancer 0.4 Ensembl 505.8 -1.1 -1078 0.6 POLR2G ZNF341 AGO2 ZNF384 EZH2 KLHL14 LOC105372055 ENSG00000228835 RPS27P28 lnc-MEP1B-6
GH18J032801 Enhancer 1.3 Ensembl ENCODE dbSUPER 17.4 -30.3 -30278 3.8 EP300 FOXK2 POLR2G NCOR1 KDM6A TCF7 FOXA1 ZBTB25 TGIF2 ZBTB7A KLHL14 piR-57460-307 FJ601684-203
GH18J032742 Enhancer 0.8 UCNEbase Ensembl 17 +30.2 30222 2 ZIC2 CTCF GLIS1 ZNF398 RAD21 KLHL14 piR-51137-052 ENSG00000228835 ENSG00000285095
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLHL14 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLHL14

Top Transcription factor binding sites by QIAGEN in the KLHL14 gene promoter:
  • aMEF-2
  • Evi-1
  • MEF-2A
  • p53
  • Pax-3
  • POU2F1
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2
  • Sp1

Genomic Locations for KLHL14 Gene

Genomic Locations for KLHL14 Gene
chr18:32,672,668-32,773,023
(GRCh38/hg38)
Size:
100,356 bases
Orientation:
Minus strand
chr18:30,252,634-30,353,025
(GRCh37/hg19)
Size:
100,392 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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAG58061.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for KLHL14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLHL14 Gene

Post-translational modifications for KLHL14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

Protein Domains for KLHL14 Gene

Blocks:
  • BTB/POZ domain
  • BTB/Kelch-associated
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KLHL14 Gene

GenScript: Design optimal peptide antigens:
  • Protein interactor of Torsin-1A (KLH14_HUMAN)
genes like me logo Genes that share domains with KLHL14: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KLHL14 Gene

Function for KLHL14 Gene

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

Animal Models for KLHL14 Gene

MGI Knock Outs for KLHL14:

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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
cytoskeleton 4
cytosol 4
nucleus 2
plasma membrane 1
peroxisome 1
mitochondrion 0

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 IEA,IDA --
GO:0015629 actin cytoskeleton IDA --
genes like me logo Genes that share ontologies with KLHL14: view

Pathways & Interactions for KLHL14 Gene

PathCards logo

SuperPathways for KLHL14 Gene

No Data Available

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

mRNA/cDNA for KLHL14 Gene

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

CRISPR Products

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

Expression for KLHL14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for KLHL14 Gene



Protein tissue co-expression partners for KLHL14 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.72 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL14 31
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLHL14 31
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL14 31 30
  • 95.91 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KLHL14 31 30
  • 93.82 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhl14 30
  • 92.36 (n)
mouse
(Mus musculus)
Mammalia Klhl14 17 31 30
  • 91.93 (n)
chicken
(Gallus gallus)
Aves KLHL14 31 30
  • 88.42 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHL14 31
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl14 30
  • 81.42 (n)
zebrafish
(Danio rerio)
Actinopterygii klhl14 31 30
  • 81.41 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for KLHL14: view image

Paralogs for KLHL14 Gene

Variants for KLHL14 Gene

Additional dbSNP identifiers (rs#s) for KLHL14 Gene

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 and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLHL14 Gene

Disorders for KLHL14 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KLHL14 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dystonia
  • dystonic disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KLHL14

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KLHL14: view

No data available for 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 54
  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 54
  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 41 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54

Products for KLHL14 Gene

Sources for KLHL14 Gene