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KLHL30 Gene

protein-coding   GIFtS: 38
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   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 Chromatin IP Primers for KLHL30

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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

Explore proteomics data for KLHL30 at MOPED


See KLHL30 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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)
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HGNC Gene Families:
BTBD: BTB/POZ domain containing
KLHL: Kelch-like

Selected InterPro protein domains (see all 7):
 IPR006652 Kelch_1
 IPR011333 BTB/POZ_fold
 IPR017096 Kelch-like_gigaxonin-typ
 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,
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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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
KLHL30 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
mitochondrion2
cytosol1
extracellular1
nucleus1
peroxisome1

(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 KLHL30
Interactions:

    Search GeneGlobe Interaction Network for KLHL30

(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 Tocris compounds for 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,
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 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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Additional mRNA sequence: 

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

1 DOTS entry:

DT.86852902 

8 AceView cDNA sequences:

BX280405 CO248895 AW291659 F31784 AW450961 F30828 AK125364 NM_198582 

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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KLHL30 expression in normal human tissues (normalized intensities)
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
 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)
KLHL30 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KLHL30 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.591595
    Custom PCR Arrays for KLHL30
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In Situ
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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 chordates.

Orthologs for KLHL30 gene from Selected 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)5
kelch-like 301
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) 74.68(n)
66.84(a)
  424851  XM_422662.4  XP_422662.4 
lizard
(Anolis carolinensis)
Reptilia KLHL306
kelch-like family member 30
66(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) 58.27(n)
56.34(a)
  559694  XM_683058.5  XP_688150.4 


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)
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Paralogs for KLHL30 gene
KLHL212  KLHL62  KBTBD82  KLHL412  KBTBD122  KBTBD22  KLHL242  ENC12  
KLHL382  KLHL292  KBTBD32  KLHL232  KLHL402  KBTBD72  KBTBD62  KLHL252  
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), 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 KLHL30 (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) Selected 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

Site Specific Mutation Identification with PCR Assays
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DNA2.0 Custom Variant and Variant Library Synthesis for KLHL30

(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 KLHL30 gene integrated from 10 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. (Genome Res. 2004)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  3. Update on the Kelch-like (KLHL) gene family. (PubMed id 23676014)1 Dhanoa B.S....Friedman J.S. (Hum. Genomics 2013)
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
  5. 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: 377007 HGNC: 24770 AceView: FLJ43374 Ensembl:ENSG00000168427 euGenes: HUgn377007
ECgene: KLHL30 H-InvDB: KLHL30

(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 KLHL30 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 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, 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 ProSpec Recombinant Proteins
 Proteins for KLHL30
 Antibodies for KLHL30
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 Browse ESI BIO Cell Lines and PureStem Progenitors for KLHL30
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL30
 SwitchGear 3'UTR luciferase reporter plasmids for KLHL30
 SwitchGear Promoter luciferase reporter plasmids for KLHL30
 Search ThermoFisher Antibodies for KLHL30
 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat KLHL30
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KLHL30
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KLHL30
 LSBio Antibodies in human, mouse, rat for KLHL30
Customized transgenic rodents for:
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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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