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

KLHL30 Gene

protein-coding   GIFtS: 39
GCID: GC02P239047

Kelch-Like Family Member 30

(Previous name: kelch-like 30 (Drosophila))
  Search for KLHL30
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Kelch-Like Family Member 301 2
Kelch-Like 30 (Drosophila)1
Kelch-Like 302
Kelch-Like Protein 302

External Ids:    HGNC: 247701   Entrez Gene: 3770072   Ensembl: ENSG000001684277   UniProtKB: Q0D2K23   

Export aliases for KLHL30 gene to outside databases

Previous GC identifers: GC02P238715 GC02P230839


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

GeneCards Summary for KLHL30 Gene: 
KLHL30 (kelch-like family member 30) is a protein-coding gene. An important paralog of this gene is KLHL21.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005120.16  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KLHL30 gene promoter:
         COUP-TF1   COUP   Lmo2   HNF-4alpha2   CUTL1   Arnt   HNF-4alpha1   PPAR-alpha   COUP-TF   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLHL30 promoter sequence
   Search SABiosciences Chromatin IP Primers for KLHL30

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL30


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

Entrez Gene cytogenetic band: 2q37.3   Ensembl cytogenetic band:  2q37.3   HGNC cytogenetic band: 2q37.3

KLHL30 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL30 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P239047:  view genomic region     (about GC identifiers)

Start:
239,047,363 bp from pter      End:
239,061,588 bp from pter
Size:
14,226 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KLH30_HUMAN, Q0D2K2 (See protein sequence)
Recommended Name: Kelch-like protein 30  
Size: 578 amino acids; 63976 Da
Sequence caution: Sequence=BAC86148.1; Type=Erroneous termination; Positions=317; Note=Translated as Trp;
Secondary accessions: Q6ZUS1

Explore the universe of human proteins at neXtProt for KLHL30: NX_Q0D2K2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q0D2K2

  • KLHL30 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins: NP_940984.3  
    ENSEMBL proteins: 
     ENSP00000386389   ENSP00000302386  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    BTBD: BTB/POZ domain containing
    KLHL: Kelch-like

    5/7 InterPro protein domains (see all 7):
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR017096 Kelch-like_gigaxonin
     IPR013069 BTB_POZ
     IPR011705 BACK

    Graphical View of Domain Structure for InterPro Entry Q0D2K2

    ProtoNet protein and cluster: Q0D2K2

    1 Blocks protein domain: IPB011705 BTB/Kelch-associated

    UniProtKB/Swiss-Prot: KLH30_HUMAN, Q0D2K2
    Similarity: Contains 1 BACK (BTB/Kelch associated) domain
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 6 Kelch repeats


    KLHL30 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    KLHL30 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KLHL30

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
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    Browse Tocris compounds for KLHL30 (KLH30)

    Search CenterWatch for drugs/clinical trials and news about KLHL30 / KLH30

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for KLHL30 gene: 
    NM_198582.3  

    Unigene Cluster for KLHL30:

    Kelch-like family member 30
    Hs.591595  [show with all ESTs]
    Unigene Representative Sequence: NM_198582
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409223 ENST00000305959(uc002vxr.2)
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK125364.1 BC103703.1 BC104749.1 BC105696.1 

    1 DOTS entry:

    DT.86852902 

    8 AceView cDNA sequences:

    BX280405 AW450961 NM_198582 AW291659 CO248895 F31784 F30828 AK125364 

    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™, 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

    KLHL30 expression in normal human tissues (normalized intensities)      KLHL30 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAACCATTT
    KLHL30 Expression
    About this image


    KLHL30 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Zeugopod Growth Plate
     
     Blood (Hematopoietic System)
             Natural Killer Cells Peripheral Blood
     
     Heart (Cardiovascular System)

    SOURCE GeneReport for Unigene cluster: Hs.591595
        SABiosciences Custom PCR Arrays for KLHL30
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL30

    (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 chordates.

    Orthologs for KLHL30 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klhl301 , 5 kelch-like 30 (Drosophila)1, 5 83.68(n)1
    87.72(a)1
      1 (46.09 cM)5
    707881  NM_027551.21  NP_081827.11 
     913510165 
    chicken
    (Gallus gallus)
    Aves KLHL301 kelch-like 30 (Drosophila) 75.06(n)
    66.73(a)
      424851  XM_422662.3  XP_422662.3 
    lizard
    (Anolis carolinensis)
    Reptilia KLHL306
    Uncharacterized protein
    65(a)
    1 ↔ 1
    3(35378345-35397959)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.98932 Transcribed sequence with weak similarity to protein more 72.68(n)    BX700845.1 
    zebrafish
    (Danio rerio)
    Actinopterygii klhl301 kelch-like 30 (Drosophila) 58.64(n)
    56.89(a)
      559694  XM_683058.4  XP_688150.3 


    ENSEMBL Gene Tree for KLHL30 (if available)
    TreeFam Gene Tree for KLHL30 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KLHL30 gene
    KLHL212  KLHL62  KBTBD82  KLHL412  KBTBD122  KLHL242  KBTBD22  ENC12  
    KLHL382  KLHL292  KBTBD32  KLHL232  KLHL402  KLHL72  KBTBD72  KLHL252  
    KBTBD62  KLHL352  
    12 SIMAP similar genes for KLHL30 using alignment to 2 protein entries:     KLH30_HUMAN (see all proteins):
    KLHL20    KLHL32    KLHL12    IVNS1ABP    KBTBD3    BTBD3
    KLHL21    KLHL3    KLHL25    KLHL2    ENC1    FLJ00029

    KLHL30 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) 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

    10/453 SNPs in KLHL30 are shown (see all 453)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1849765001,2
    --239045378(+) TTATTC/TTTCTG 1 -- us2k10--------
    rs776758271,2
    C,F--239045451(+) AAAACT/CGCGCC 1 -- us2k11Minor allele frequency- C:0.06WA 118
    rs731023231,2
    C,F--239045468(+) TAGCAG/ATCTCT 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1146043461,2
    C,F--239045694(+) AGGGGG/AACAGT 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs1815343841,2
    --239045788(+) CAACAA/TGAGGC 1 -- us2k10--------
    rs1862355421,2
    C--239045789(+) AACATA/GAGGCT 1 -- us2k10--------
    rs285639081,2
    C,F--239045808(+) AGGCTG/AGGGAA 1 -- us2k1 tfbs36Minor allele frequency- A:0.14NA WA EA 366
    rs284186131,2
    C,F--239045817(+) AAAAAC/TCCTGG 1 -- us2k1 tfbs37Minor allele frequency- T:0.14NA WA CSA EA 367
    rs1491870151,2
    C--239045837(+) GACAC-/GAGCAGGG
    GAAAGAGCAG
    GAGCA
    1 -- cds10--------
    rs772943951,2
    F--239045876(+) TGGGCT/CGGGCT 1 -- us2k11Minor allele frequency- C:0.03NA 120

    HapMap Linkage Disequilibrium report for KLHL30 (239047363 - 239061588 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for KLHL30 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2721754CNV Deletion23290073
    esv2721755CNV Deletion23290073
    esv2721753CNV Deletion23290073
    nsv508894CNV Insertion20534489
    nsv3231CNV Insertion18451855
    nsv460147CNV Loss19166990
    dgv4461n71CNV Loss21882294
    nsv876062CNV Loss21882294
    nsv517412CNV Loss19592680
    nsv433212CNV Loss18776910

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, 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 KLHL30 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KLHL30)
        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. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    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. (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: 377007 HGNC: 24770 AceView: FLJ43374 Ensembl:ENSG00000168427 euGenes: HUgn377007
    ECgene: KLHL30 H-InvDB: KLHL30

    (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 KLHL30 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 KLHL30 gene:
    Search GeneIP for patents involving KLHL30

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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     Proteins for KLHL30
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    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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