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Aliases for KLHL30 Gene

Aliases for KLHL30 Gene

  • Kelch-Like Family Member 30 2 3
  • Kelch-Like 30 (Drosophila) 2

External Ids for KLHL30 Gene

Previous GeneCards Identifiers for KLHL30 Gene

  • GC02P238715
  • GC02P239047
  • GC02P230839

Summaries for KLHL30 Gene

GeneCards Summary for KLHL30 Gene

KLHL30 (Kelch-Like Family Member 30) is a Protein Coding gene. An important paralog of this gene is KBTBD6.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL30 Gene

Genomics for KLHL30 Gene

Regulatory Elements for KLHL30 Gene

Genomic Location for KLHL30 Gene

Start:
238,138,722 bp from pter
End:
238,152,947 bp from pter
Size:
14,226 bases
Orientation:
Plus strand

Genomic View for KLHL30 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KLHL30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL30 Gene

Proteins for KLHL30 Gene

  • Protein details for KLHL30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0D2K2-KLH30_HUMAN
    Recommended name:
    Kelch-like protein 30
    Protein Accession:
    Q0D2K2
    Secondary Accessions:
    • Q6ZUS1

    Protein attributes for KLHL30 Gene

    Size:
    578 amino acids
    Molecular mass:
    63976 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC86148.1; Type=Erroneous termination; Positions=317; Note=Translated as Trp.; Evidence={ECO:0000305};

neXtProt entry for KLHL30 Gene

Proteomics data for KLHL30 Gene at MOPED

Post-translational modifications for KLHL30 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLHL30 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLHL30 Gene

Domains for KLHL30 Gene

Gene Families for KLHL30 Gene

HGNC:
  • BTBD :BTB/POZ domain containing
  • KLHL :Kelch-like

Suggested Antigen Peptide Sequences for KLHL30 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q0D2K2

UniProtKB/Swiss-Prot:

KLH30_HUMAN :
  • Q0D2K2
Domain:
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 6 Kelch repeats.
genes like me logo Genes that share domains with KLHL30: view

Function for KLHL30 Gene

Gene Ontology (GO) - Molecular Function for KLHL30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with KLHL30: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KLHL30 Gene

Localization for KLHL30 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KLHL30 Gene COMPARTMENTS Subcellular localization image for KLHL30 gene
Compartment Confidence
mitochondrion 2
cytosol 1
extracellular 1
nucleus 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KLHL30 Gene

Pathways for KLHL30 Gene

SuperPathways for KLHL30 Gene

No Data Available

Interacting Proteins for KLHL30 Gene

Gene Ontology (GO) - Biological Process for KLHL30 Gene

None

No data available for Pathways by source for KLHL30 Gene

Transcripts for KLHL30 Gene

mRNA/cDNA for KLHL30 Gene

(8) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KLHL30 Gene

Kelch-like family member 30:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL30 Gene

No ASD Table

Relevant External Links for KLHL30 Gene

GeneLoc Exon Structure for
KLHL30
ECgene alternative splicing isoforms for
KLHL30

Expression for KLHL30 Gene

mRNA expression in normal human tissues for KLHL30 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLHL30 Gene

This gene is overexpressed in Muscle - Skeletal (33.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KLHL30 Gene

SOURCE GeneReport for Unigene cluster for KLHL30 Gene Hs.591595

genes like me logo Genes that share expressions with KLHL30: view

No data available for mRNA Expression by UniProt/SwissProt for KLHL30 Gene

Orthologs for KLHL30 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL30 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL30 36
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOC789335 35
  • 87.63 (n)
  • 87.1 (a)
dog
(Canis familiaris)
Mammalia KLHL30 35
  • 89.16 (n)
  • 90.48 (a)
KLHL30 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl30 35
  • 83.68 (n)
  • 87.72 (a)
Klhl30 16
Klhl30 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLHL30 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL30 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhl30 35
  • 83.56 (n)
  • 87.72 (a)
chicken
(Gallus gallus)
Aves KLHL30 35
  • 74.68 (n)
  • 66.84 (a)
KLHL30 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHL30 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl30 35
  • 62.92 (n)
  • 59.82 (a)
Str.9893 35
zebrafish
(Danio rerio)
Actinopterygii klhl30 35
  • 58.27 (n)
  • 56.34 (a)
klhl30 36
  • 53 (a)
OneToOne
Species with no ortholog for KLHL30:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KLHL30 Gene

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

Paralogs for KLHL30 Gene

Selected SIMAP similar genes for KLHL30 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KLHL30: view

Variants for KLHL30 Gene

Sequence variations from dbSNP and Humsavar for KLHL30 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs748218 -- 238,142,998(-) CAAGG(A/T)GGACA intron-variant
rs753862 -- 238,142,168(+) TGCTT(C/T)GGGGC intron-variant
rs935410 -- 238,143,214(-) GGCCG(A/T)GGAGG intron-variant
rs935411 -- 238,142,909(-) AAGGC(A/G)AAGTT synonymous-codon, reference
rs2241985 -- 238,140,899(+) ACCGC(A/G)GCCTC missense, reference

Structural Variations from Database of Genomic Variants (DGV) for KLHL30 Gene

Variant ID Type Subtype PubMed ID
nsv876062 CNV Loss 21882294
nsv508894 CNV Insertion 20534489
dgv4460n71 CNV Loss 21882294
nsv470525 CNV Loss 18288195
dgv4461n71 CNV Loss 21882294
nsv517412 CNV Loss 19592680
nsv433212 CNV Loss 18776910
nsv460147 CNV Loss 19166990
nsv3231 CNV Insertion 18451855
esv2721753 CNV Deletion 23290073
esv2721754 CNV Deletion 23290073
esv2721755 CNV Deletion 23290073
nsv819507 CNV Gain 19587683

Relevant External Links for KLHL30 Gene

HapMap Linkage Disequilibrium report
KLHL30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL30 Gene

Disorders for KLHL30 Gene

No disorders were found for KLHL30 Gene.

No data available for UniProtKB/Swiss-Prot for KLHL30 Gene

Publications for KLHL30 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Update on the Kelch-like (KLHL) gene family. (PMID: 23676014) Dhanoa B.S. … Friedman J.S. (Hum. Genomics 2013) 3
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for KLHL30 Gene

Sources for KLHL30 Gene

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