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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KLHL14 Gene

protein-coding   GIFtS: 48
GCID: GC18M030252

kelch-like family member 14

(Previous name: kelch-like 14 (Drosophila) )
  Search for KLHL14
in
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 Human Malady Compendium 
Biological research products
for KLHL14    

Aliases
for KLHL14 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Kelch-Like Family Member 141 2     Kelch-Like 142
KIAA13841 3     Kelch-Like Protein 142
Protein Interactor Of Torsin-1A2 3     Printor3
Protein Interactor Of TorsinA2 3     Printor3
Kelch-Like 14 (Drosophila)1     

External Ids:    HGNC: 292661   Entrez Gene: 575652   Ensembl: ENSG000001977057   OMIM: 6137725   UniProtKB: Q9P2G33   

Export aliases for KLHL14 gene to outside databases

Previous GC identifers: GC18M028505 GC18M028506 GC18M027110


Summaries
for KLHL14 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
  --

Genomic Views
for KLHL14 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_010966.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KLHL14 gene promoter:
         Sp1   p53   Evi-1   MEF-2A   Pax-3   PPAR-gamma1   POU2F1   POU2F1a   aMEF-2   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KLHL14 promoter sequence
   Search SABiosciences Chromatin IP Primers for KLHL14

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL14


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q12.1   Ensembl cytogenetic band:  18q12.1   HGNC cytogenetic band: 18q12.1

KLHL14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL14 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M030252:  view genomic region     (about GC identifiers)

Start:
 30,252,634 bp from pter      End:
 30,353,025 bp from pter
Size:
 100,392 bases      Orientation:
 minus strand

Proteins
for KLHL14 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: KLH14_HUMAN, Q9P2G3 (See protein sequence)
Recommended Name: Kelch-like protein 14  
Size: 628 amino acids; 70714 Da
Subunit: Interacts with TOR1A, preferentially with the ATP-free form
Subcellular location: Cytoplasm, cytosol. Endoplasmic reticulum membrane. Note=Colocalizes with TOR1A at the
endoplasmic reticulum level
Sequence caution: Sequence=BAA92622.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAG58061.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A6NNW1 B4DHA0 Q8WU41
Alternative splicing: 2 isoforms:  Q9P2G3-1   Q9P2G3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KLHL14: NX_Q9P2G3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9P2G3

    • KLHL14 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_065856.1  
    ENSEMBL proteins: 
     ENSP00000352314   ENSP00000350808   ENSP00000463803  

    Human Recombinant Protein Products: 
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    Uscn Proteins for KLHL14

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA19535332
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005829cytosol IEA--
    GO:0043005neuron projection IEA--
    GO:0043025neuronal cell body IEA--


    KLHL14 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for KLHL14

    Protein Domains /
    Families
    for KLHL14 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KLHL14 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR017096 Kelch-like_gigaxonin
     IPR000210 BTB/POZ-like
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR013069 BTB_POZ

    Graphical View of Domain Structure for InterPro Entry Q9P2G3

    ProtoNet protein and cluster: Q9P2G3

    2 Blocks protein families:
    IPB000210 BTB/POZ domain
    IPB011705 BTB/Kelch-associated


    UniProtKB/Swiss-Prot: KLH14_HUMAN, Q9P2G3
    Similarity: Contains 1 BACK (BTB/Kelch associated) domain
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 6 Kelch repeats


    Function
    for KLHL14 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
    Products:            		 OriGene 3'-UTR Clone: KLHL14
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KLHL14
    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate KLHL14 (see all 39):
    hsa-miR-142-5p hsa-miR-579 hsa-miR-3164 hsa-miR-562 hsa-miR-429 hsa-miR-330-5p hsa-miR-134 hsa-miR-25
    SwitchGear 3'UTR luciferase reporter plasmid: KLHL14 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: KLHL14
    OriGene siRNA: KLHL14
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for KLHL14

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----


    KLHL14 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for KLHL14:
     Increased HPV18 LCR reporter a 


    Pathways & Interactions
    for KLHL14 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KLHL14

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for KLHL14 (ENSP000003523144) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGFBR1ENSP000003641334STRING: ENSP00000364133
    About this table

    Drugs & Compounds
    for KLHL14 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KLHL14
    Search CenterWatch for drugs/clinical trials and news about KLHL14 / KLH14 

    Transcripts
    for KLHL14 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for KLHL14 gene: 
    NM_020805.1  

    Unigene Cluster for KLHL14:

    Kelch-like 14 (Drosophila)
    Hs.446164  [show with all ESTs]
    Unigene Representative Sequence: AB037805
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359358(uc002kxm.1) ENST00000358095 ENST00000583263

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KLHL14
    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate KLHL14 (see all 39):
    hsa-miR-142-5p hsa-miR-579 hsa-miR-3164 hsa-miR-562 hsa-miR-429 hsa-miR-330-5p hsa-miR-134 hsa-miR-25
    SwitchGear 3'UTR luciferase reporter plasmid: KLHL14 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KLHL14 (see all 7)
    OriGene shRNA RFP: KLHL14
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AB037805.1 AK294996.1 BC021267.2 

    3 DOTS entries:

    DT.455130  DT.97822013  DT.100688897 

    24/43 AceView cDNA sequences (see all 43):

    AW473777 AB037805 AA843853 BI915048 BX386279 AI741736 AI539017 BM473521 
    BC021267 AW572056 AI091311 AA262223 CR604173 BM683505 BI915130 BX348902 
    AA465329 AW504050 BX348901 AW402470 AA262224 AI051108 AW591052 AW419074 

    GeneLoc Exon Structure


    Expression
    for KLHL14 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KLHL14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATAGAATGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    KLHL14 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Spinal CordSpinal Dorsal ColumnsDorsal Spinal Cord Progenitor CellsSpinal Cord
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    TestisSeminiferous TubulesSertoli cellsTestis
    Spinal CordSpinal Dorsal ColumnsSpinal Cord
    Spinal CordSpinal Ventral ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Epiblast-like cells (Reconstitution of mo...)

    See KLHL14 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLHL14

    SOURCE GeneReport for Unigene cluster: Hs.446164
        SABiosciences Custom PCR Arrays for KLHL14
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    In Situ
    Assay Products:     
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    Orthologs
    for KLHL14 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for KLHL14 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves KLHL141 kelch-like 14 (Drosophila) 89(n)
    97.41(a)    		   421100  NM_001012866.1  NP_001012884.1 
    lizard
    (Anolis carolinensis)    		 Reptilia KLHL146
    		 --
    		 98(a)
    		 1 ↔ 1
    		 GL343207.1(3145989-3189174)
    zebrafish
    (Danio rerio)    		 Actinopterygii klhl141 kelch-like 14 (Drosophila) 81.68(n)
    91.91(a)    		   794722  XM_001334693.3  XP_001334729.3 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG18126
    		 --
    		 23(a)
    		 1 → many
    		 X(20382574-20386859)


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

    Paralogs
    for KLHL14 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KLHL14 gene
    KLHL422  KLHL132  KLHL222  KLHL262  KLHL342  KBTBD132  KBTBD112  KLHL312  
    KLHL92  KLHL322  KLHDC7B2  KLHL152  KLHL362  KLHL332  KLHDC7A2  
    18/19 SIMAP similar genes for KLHL14 using alignment to 2 protein entries:     KLH14_HUMAN (see all proteins) (see all similar genes):
    KLHL24    ZBTB7C    BACH2    KLHL28    ZNF131    DKFZp686L0695
    HIC1    ZBTB4    KLHL36    FLJ00127    KLHL32    BCL6B
    KLHL13    ZBTB38    KLHL9    KLHL31    KLHL5    DKFZp761P1717

    KLHL14 for paralogs           About GeneDecksing



    Genomic Variants
    for KLHL14 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1653 NCBI SNPs in KLHL14 are shown (see all 1653)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 18 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs758678761,2
    		F,--30252158(+) CAAGCC/TTTAGT 1 -- ds50012Minor allele frequency- T:0.01WA NA 238
    rs1491888031,2
    		--30252279(+) TGTGTA/GACTCA 1 -- ds50010--------
    rs1857072361,2
    		--30252295(+) TCTTTA/GAAAAG 1 -- ds50010--------
    rs1434174391,2
    		--30252334(+) CTTCTA/TATAAT 1 -- ds50010--------
    rs1483709811,2
    		--30252370(+) CTCAGA/GTAAGT 1 -- ds50010--------
    rs18460131,2
    		C,F,A,H,--30252515(+) GCCAAA/GTAACA 1 -- ds500118Minor allele frequency- G:0.19NS EA NA WA 2336
    rs1415671161,2
    		--30252987(+) ACTTTC/TCTTTC 1 -- ut310--------
    rs113695551,2
    		C,--30253010(+) GTTTTC/-AAGGA 1 -- ut31 trp32Minor allele frequency- -:0.25NA CSA 4
    rs1999736391,2
    		C--30253010(+) TGTTTC/TAAGGA 1 -- ut310--------
    rs2000722751,2
    		C--30253011(+) GTTTTA/CAGGAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for KLHL14 (30252634 - 30353025 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for KLHL14
         5 Indels: 77842 88780 88778 77843 88779

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    Disorders / Diseases
    for KLHL14 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    KLHL14 for disorders           About MalaCards

    KLHL14 for disorders           About GeneDecksing

    OMIM gene information: 613772    OMIM disorders: --

    Human Genome Epidemiology (HuGE) Navigator: KLHL14 (1 document)

    Export disorders for KLHL14 gene to outside databases

    Publications
    for KLHL14 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KLHL14 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KLHL14)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Printor, a novel torsinA-interacting protein implicat ed in dystonia pathogenesis. (PubMed id 19535332)1, 2, 3 Giles L.M....Chin L.S. (2009)
    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. (PubMed id 10718198)1, 2, 3 Nagase T.... Ohara O. (2000)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    4. DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)2 Nusbaum C.... Lander E.S. (2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    External Searches for KLHL14 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing KLHL14 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57565 HGNC: 29266 AceView: KLHL14 Ensembl:ENSG00000197705 euGenes: HUgn57565
    ECgene: KLHL14 H-InvDB: KLHL14

    Other Databases showing KLHL14 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1384

    Specialized Databases showing KLHL14 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KLHL14 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for KLHL14 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for KLHL14 gene:
    Search GeneIP for patents involving KLHL14

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
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    In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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