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

KLHL28 Gene

protein-coding   GIFtS: 43
GCID: GC14M045393

kelch-like family member 28

(Previous names: BTB (POZ) domain containing 5, kelch-like 28 (Drosophila)...)
(Previous symbol: BTBD5)
  Search for KLHL28
in our new
 Human Malady Compendium 
Biological research products
for KLHL28
    

(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 281 2     FLJ200811
BTBD51 2 3     Kelch-Like 28 (Drosophila)1
BTB (POZ) Domain Containing 51 2     Kelch-Like 282
BTB/POZ Domain-Containing Protein 52 3     Kelch-Like Protein 282

External Ids:    HGNC: 197411   Entrez Gene: 548132   Ensembl: ENSG000001794547   UniProtKB: Q9NXS33   

Export aliases for KLHL28 gene to outside databases

Previous GC identifers: GC14M044468 GC14M025504


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

  --

(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_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KLHL28 gene promoter:
         Nkx3-1   E2F-3a   E2F-4   E2F-5   Nkx3-1 v4   Nkx3-1 v1   E2F-2   Nkx3-1 v2   E2F-1   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLHL28 promoter sequence
   Search SABiosciences Chromatin IP Primers for KLHL28

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL28


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

Entrez Gene cytogenetic band: 14q21.2   Ensembl cytogenetic band:  14q21.2   HGNC cytogenetic band: 14q21.1

KLHL28 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL28 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M045393:  view genomic region     (about GC identifiers)

Start:
45,393,527 bp from pter      End:
45,511,525 bp from pter
Size:
117,999 bases      Orientation:
minus strand

(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: KLH28_HUMAN, Q9NXS3 (See protein sequence)
Recommended Name: Kelch-like protein 28  
Size: 571 amino acids; 64192 Da
Secondary accessions: Q0VAL5
Alternative splicing: 2 isoforms:  Q9NXS3-1   Q9NXS3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KLHL28: NX_Q9NXS3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NXS3

  • KLHL28 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060128.2  
    ENSEMBL proteins: 
     ENSP00000379434   ENSP00000347193   ENSP00000462025   ENSP00000452061   ENSP00000452591  
     ENSP00000450788  

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

    KLHL28 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
     IPR015916 Gal_Oxidase_b-propeller

    Graphical View of Domain Structure for InterPro Entry Q9NXS3

    ProtoNet protein and cluster: Q9NXS3

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


    UniProtKB/Swiss-Prot: KLH28_HUMAN, Q9NXS3
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 6 Kelch repeats


    (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
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    hsa-miR-3678-3p hsa-miR-520e hsa-miR-607 hsa-miR-106a hsa-miR-3653 hsa-miR-30d hsa-miR-519a hsa-miR-890
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    2 GenomeRNAi human phenotypes for KLHL28:
     Decreased cell number  Increased cell number in G1, a 


    (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 KLHL28

    2 Interacting proteins for KLHL28 (Q9NXS33) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AXIN1O151693I2D: score=1 
    AXIN2Q9Y2T13I2D: score=1 
    About this table

    (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 KLHL28
    Search CenterWatch for drugs/clinical trials and news about KLHL28 / KLH28 

    (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 KLHL28 gene: 
    NM_017658.3  

    Unigene Cluster for KLHL28:

    Kelch-like 28 (Drosophila)
    Hs.550906  [show with all ESTs]
    Unigene Representative Sequence: NM_017658
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396128(uc001wvq.3 uc001wvr.3) ENST00000355081 ENST00000579157
    ENST00000556500 ENST00000556239 ENST00000557468 ENST00000553817

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    8/108 QIAGEN miScript miRNA Assays for microRNAs that regulate KLHL28 (see all 108):
    hsa-miR-3678-3p hsa-miR-520e hsa-miR-607 hsa-miR-106a hsa-miR-3653 hsa-miR-30d hsa-miR-519a hsa-miR-890
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KLHL28 (see all 7)
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    OriGene siRNA: KLHL28
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KLHL28
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    Additional cDNA sequence: 

    AK090972.1 AK289855.1 BC012473.2 BC057794.1 BC121009.1 BC121010.1 

    7 DOTS entries:

    DT.408682  DT.92418158  DT.97794569  DT.40131028  DT.40310257  DT.100690232  DT.40119719 

    24/41 AceView cDNA sequences (see all 41):

    AA459463 BP350853 AI247249 NM_017658 AA705318 AW294280 AI277394 BX118266 
    BC012473 CA433205 AW270960 AI349316 AA459242 BU543670 BC057794 BP351027 
    BQ710953 AL713035 BP359589 AW118922 BX461237 AA455180 BI222474 AK000088 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for KLHL28 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8
    SP1:                    -                                                                           
    SP2:                                                                                                
    SP3:                                      -     -                                                   
    SP4:                                                                                                
    SP5:                    -     -                                                                     


    ECgene alternative splicing isoforms for KLHL28

    (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

    KLHL28 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACCTTTTTA

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

    About this image
    See KLHL28 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLHL28

    SOURCE GeneReport for Unigene cluster: Hs.550906
        SABiosciences Custom PCR Arrays for KLHL28
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL28

    (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 KLHL28 gene from 4/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves KLHL281 kelch-like 28 (Drosophila) 80.27(n)
    92.64(a)
      423596  XM_421484.2  XP_421484.1 
    lizard
    (Anolis carolinensis)
    Reptilia KLHL286
    --
    86(a)
    1 ↔ 1
    GL343274.1(197129-201921)
    zebrafish
    (Danio rerio)
    Actinopterygii klhl281 kelch-like 28 (Drosophila) 68.88(n)
    83.4(a)
      100333404  XM_002667673.2  XP_002667719.2 
    worm
    (Caenorhabditis elegans)
    Secernentea C53A5.116
    C53A5.96
    (see all 7)
    Protein C53A5.9
    (see all 7)
    17(a)
    17(a)
    (see all 7)
    possible ortholog
    possible ortholog
    (see all 7)
    V(14562550-14564624)
    V(14557023-14558903)


    ENSEMBL Gene Tree for KLHL28 (if available)
    TreeFam Gene Tree for KLHL28 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KLHL28 gene
    KLHL172  KLHL182  KLHL202  KLHL52  KLHL122  KEAP12  KLHL42  IPP2  
    KLHL32  KLHL82  KLHL102  KLHL12  KLHL22  
    18/51 SIMAP similar genes for KLHL28 using alignment to 6 protein entries:     KLH28_HUMAN (see all proteins) (see all similar genes):
    KLHL14    ZBTB44    KBTBD8    ZBTB21    ZNF295    KLHL20
    KLHL17    KBTBD3    KLHL3    KLHL4    KLHL1    KLHL5
    KLHL12    HIC1    KLHL2    KLHL32    ZBTB3    ZBTB14

    KLHL28 for paralogs           About GeneDecksing



    (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

    10/493 NCBI SNPs in KLHL28 are shown (see all 493    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1916089621,2
    --45393037(+) TAGTAA/CACGTC 1 -- int10--------
    rs1133022421,2
    C--45393080(+) TTTTC-/TTTTTT 1 -- int11Minor allele frequency- T:0.00CSA 2
    rs788995011,2
    --45393122(+) GGCTGG/TAATGC 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs574899651,2
    C,--45393343(+) GCTGGT/GGTTAC 1 -- int11Minor allele frequency- G:0.00WA 2
    rs589208611,2
    C,F,--45393372(+) CAGGCC/TGGGCC 1 -- int16Minor allele frequency- T:0.11WA CSA NA EA 363
    rs1178748121,2
    F,--45393443(+) TACTAC/GCTATC 1 -- int11Minor allele frequency- G:0.03EA 120
    rs1837460171,2
    --45393469(+) AAGAGC/GTGAGC 1 -- int10--------
    rs171156901,2
    C,F,H,--45393495(+) TGGTTC/TAGTTC 1 -- int119Minor allele frequency- T:0.12NA NS EA WA 1888
    rs1484072951,2
    --45393712(+) AAGGTA/GCATGT 1 -- ut310--------
    rs1894988541,2
    --45393715(+) GTACAC/TGTTCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for KLHL28 (45393527 - 45511525 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for KLHL28
         1 Indel: 58675

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    (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
      --

    (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 KLHL28 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KLHL28)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    4. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    6. 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)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54813 HGNC: 19741 AceView: BTBD5 Ensembl:ENSG00000179454 euGenes: HUgn54813
    ECgene: KLHL28 H-InvDB: KLHL28

    (According to HUGE)
    About This Section
      --

    (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 KLHL28 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KLHL28 gene:
    Search GeneIP for patents involving KLHL28

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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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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    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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