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KLHL33 Gene

protein-coding   GIFtS: 35
GCID: GC14M020896

Kelch-Like Family Member 33

(Previous name: kelch-like 33 (Drosophila))
  Search for KLHL33
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Kelch-Like Family Member 331 2
Kelch-Like 33 (Drosophila)1
Kelch-Like 332
Kelch-Like Protein 332
EC 2.3.1.488
EC 2.7.1.118

External Ids:    HGNC: 319521   Entrez Gene: 1231032   Ensembl: ENSG000001852717   UniProtKB: A6NCF53   

Export aliases for KLHL33 gene to outside databases

Previous GC identifers: GC14M019969 GC14M001018


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KLHL33 Gene:
KLHL33 (kelch-like family member 33) is a protein-coding gene. An important paralog of this gene is KLHL42.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KLHL33 gene promoter:
         CREB   ATF-2   deltaCREB   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KLHL33

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KLHL33


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

Entrez Gene cytogenetic band: 14q11.2   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2

KLHL33 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL33 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M020896:  view genomic region     (about GC identifiers)

Start:
20,896,970 bp from pter      End:
20,903,801 bp from pter
Size:
6,832 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KLH33_HUMAN, A6NCF5 (See protein sequence)
Recommended Name: Kelch-like protein 33  
Size: 533 amino acids; 57810 Da

Explore the universe of human proteins at neXtProt for KLHL33: NX_A6NCF5

Explore proteomics data for KLHL33 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for KLHL33 (A6NCF5)
     ACILTLP  LVVIGGDG 


    See KLHL33 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001103467.2  
    ENSEMBL proteins: 
     ENSP00000341549  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KLHL: Kelch-like

    4 InterPro protein domains:
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR011705 BACK
     IPR015915 Kelch-typ_b-propeller

    Graphical View of Domain Structure for InterPro Entry A6NCF5

    ProtoNet protein and cluster: A6NCF5

    UniProtKB/Swiss-Prot: KLH33_HUMAN, A6NCF5
    Similarity: Contains 6 Kelch repeats


    KLHL33 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Enzyme Numbers (IUBMB): EC 2.3.1.482 EC 2.7.1.112

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    KLHL33 for ontologies           About GeneDecksing


    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    mitochondrion1
    peroxisome1
    plasma membrane1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KLHL33
    Interactions:

        Search GeneGlobe Interaction Network for KLHL33

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KLHL33 (KLH33)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KLHL33 gene: 
    NM_001109997.2  

    Unigene Cluster for KLHL33:

    Kelch-like family member 33
    Hs.556014  [show with all ESTs]
    Unigene Representative Sequence: NM_001109997
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000344581(uc010tli.2)
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    Additional mRNA sequence: 

    BC146951.1 BC146954.1 BC151130.1 

    1 DOTS entry:

    DT.120748843 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KLHL33 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTACTGTCC
    KLHL33 Expression
    About this image

    KLHL33 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KLHL33 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.556014
        Custom PCR Arrays for KLHL33
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    Assay Products:
     

     
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for KLHL33 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klhl331 , 5 kelch-like 33 (Drosophila)5
    kelch-like 331
    84.12(n)1
    84.8(a)1
      14 (26.29 cM)5
    5466111  NM_001166651.11  NP_001160123.11 
     508913895 
    chicken
    (Gallus gallus)
    Aves LOC1017509921 kelch-like protein 33-like 53.75(n)
    45.64(a)
      101750992  XM_004948667.1  XP_004948724.1 
    lizard
    (Anolis carolinensis)
    Reptilia KLHL336
    kelch-like family member 33
    38(a)
    1 ↔ 1
    GL343220.1(1128556-1134471)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1018846351 kelch-like protein 33-like 46.11(n)
    37.74(a)
      101884635  XM_005167143.1  XP_005167200.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG18126
    --
    19(a)
    1 → many
    X(20382574-20386859)


    ENSEMBL Gene Tree for KLHL33 (if available)
    TreeFam Gene Tree for KLHL33 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KLHL33 gene
    KLHL422  KLHL132  KLHL222  KLHL262  KLHL342  KLHL312  KBTBD132  KBTBD112  
    KLHL322  KLHL92  KLHL142  KLHL152  KLHDC7B2  KLHL362  KLHDC7A2  
    2 SIMAP similar genes for KLHL33 using alignment to 3 protein entries:     KLH33_HUMAN (see all proteins):
    KLHL8    KLHDC8A

    KLHL33 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KLHL33 (see all 266)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1446493691,2
    --20896484(+) TTACCA/CGGGAG 1 -- ds50010--------
    rs8825941,2
    C,F,A--20896524(-) TCCCAT/CCCCTG 1 -- ds500112Minor allele frequency- C:0.40NA WA CSA EA 553
    rs735870401,2
    C,F--20896543(+) AGGAGC/AAAGTT 1 -- ds50012Minor allele frequency- A:0.25WA 120
    rs1112447131,2
    F--20896610(+) TTTCAG/TGGATG 1 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs748816821,2
    C--20896630(+) CATTTT/GTCCCA 1 -- ds50014Minor allele frequency- G:0.08CSA WA NA EA 360
    rs1410390571,2
    --20896777(+) GTCTCC/TTTTCC 1 -- ds50010--------
    rs735870411,2
    C,F--20896809(+) TCCCCT/CTTCCC 1 -- ds50012Minor allele frequency- C:0.25WA 120
    rs71546621,2
    C,F,A,H--20896828(+) TTCCCC/TAGGAG 1 -- ds500118Minor allele frequency- T:0.35NA NS EA WA CSA 935
    rs71407681,2
    C,F,A,H--20896857(+) CTCAAT/CGGAGA 1 -- ds500131Minor allele frequency- C:0.42NS NA EA WA CSA 2597
    rs1502572271,2
    --20897023(+) GGTTTG/TGTTTG 2 T syn10--------

    HapMap Linkage Disequilibrium report for KLHL33 (20896970 - 20903801 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for KLHL33:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv23438CNV Gain+Loss19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KLHL33
    DNA2.0 Custom Variant and Variant Library Synthesis for KLHL33

    (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.)
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      --

    (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)
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    PubMed articles for KLHL33 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with KLHL33)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Update on the Kelch-like (KLHL) gene family. (PubMed id 23676014)1 Dhanoa B.S....Friedman J.S. (Hum. Genomics 2013)
    2. Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes. (PubMed id 16368877)1 Choy K.W....Pang C.P. (Physiol. Genomics 2006)
    3. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (Nature 2003)
    4. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 123103 HGNC: 31952 Ensembl:ENSG00000185271 euGenes: HUgn123103 ECgene: KLHL33
    H-InvDB: KLHL33

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KLHL33 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KLHL33 gene:
    Search GeneIP for patents involving KLHL33

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Browse ESI BIO Cell Lines and PureStem Progenitors for KLHL33
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL33
     Browse SwitchGear 3'UTR luciferase reporter plasmids for KLHL33
     Browse SwitchGear Promoter luciferase reporter plasmids for KLHL33
     Search ThermoFisher Antibodies for KLHL33
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHL33
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KLHL33
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KLHL33
     LSBio Antibodies in human, mouse, rat for KLHL33
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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