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Aliases for KLHL5 Gene

Aliases for KLHL5 Gene

  • Kelch Like Family Member 5 2 3 5
  • Lymphocyte Activation-Associated Protein 3
  • Kelch (Drosophila)-Like 5 2
  • Kelch-Like 5 (Drosophila) 2
  • Kelch-Like Protein 5 3

External Ids for KLHL5 Gene

Previous GeneCards Identifiers for KLHL5 Gene

  • GC04M038768
  • GC04M039139
  • GC04P038898
  • GC04P038886
  • GC04P038723
  • GC04P038371

Summaries for KLHL5 Gene

GeneCards Summary for KLHL5 Gene

KLHL5 (Kelch Like Family Member 5) is a Protein Coding gene. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is KLHL1.

Additional gene information for KLHL5 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL5 Gene

Genomics for KLHL5 Gene

GeneHancer (GH) Regulatory Elements for KLHL5 Gene

Promoters and enhancers for KLHL5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J039040 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 661.3 -0.2 -231 8.1 HDGF PKNOX1 FOXA2 SMAD1 ARID4B YY1 ZNF766 ZNF143 FOS SP3 KLHL5 ENSG00000249685 PDS5A ZBTB12BP ENSG00000250568 TMEM156 TLR1 TLR6 KLF3 GC04P038912
GH04J039062 Promoter/Enhancer 1 EPDnew Ensembl 660.4 +17.9 17938 0.5 MXI1 RFX1 RCOR1 CHD2 KLHL5 ENSG00000249207 ENSG00000249685 MIR574 FAM114A1 TLR6 TLR1 LOC105374418 GC04P038912
GH04J039063 Promoter 0.7 EPDnew 650.4 +17.5 17531 0.1 SP1 MXI1 RUNX3 KLHL5 ENSG00000249207 ENSG00000249685 FAM114A1 MIR574 TLR6 TLR1 LOC105374418 GC04P038912
GH04J038983 Enhancer 1.2 Ensembl ENCODE dbSUPER 16.9 -59.5 -59481 2.8 ELF3 SOX13 MXI1 FOXA2 ZSCAN4 ZNF384 ZNF644 THRB ZNF48 ZNF7 KLHL5 TMEM156 ENSG00000249685 ENSG00000249207 FAM114A1 MIR574 RNU6-32P RFC1 RPL9 GC04P038912
GH04J038661 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.1 -375.9 -375944 14.9 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 MEF2D KLF3 KLF3-AS1 HNRNPRP3 ENSG00000271958 RFC1 PGM2 KLHL5 TLR6 TLR1 LOC105374413
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLHL5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLHL5 gene promoter:
  • AREB6
  • POU2F1a
  • POU2F1
  • IRF-1
  • HNF-3beta
  • POU2F1b
  • POU2F1c
  • HEN1

Genomic Locations for KLHL5 Gene

Genomic Locations for KLHL5 Gene
chr4:39,044,801-39,142,823
(GRCh38/hg38)
Size:
98,023 bases
Orientation:
Plus strand
chr4:39,046,451-39,128,477
(GRCh37/hg19)
Size:
82,027 bases
Orientation:
Plus strand

Genomic View for KLHL5 Gene

Genes around KLHL5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL5 Gene

Proteins for KLHL5 Gene

  • Protein details for KLHL5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PQ7-KLHL5_HUMAN
    Recommended name:
    Kelch-like protein 5
    Protein Accession:
    Q96PQ7
    Secondary Accessions:
    • A8K170
    • B7WP68
    • E9PCF4
    • F8WAE7
    • G3XA92
    • Q6Y881
    • Q86XW0
    • Q9NUK3
    • Q9NV27
    • Q9NVA9
    • Q9Y2X2

    Protein attributes for KLHL5 Gene

    Size:
    755 amino acids
    Molecular mass:
    84457 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD32565.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAL08584.1; Type=Erroneous termination; Positions=735; Note=Translated as Trp.; Evidence={ECO:0000305}; Sequence=BAA91845.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91933.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA92121.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for KLHL5 Gene

neXtProt entry for KLHL5 Gene

Post-translational modifications for KLHL5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Boster Bio Antibodies for KLHL5
  • Santa Cruz Biotechnology (SCBT) Antibodies for KLHL5

No data available for DME Specific Peptides for KLHL5 Gene

Domains & Families for KLHL5 Gene

Gene Families for KLHL5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KLHL5 Gene

Suggested Antigen Peptide Sequences for KLHL5 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLHL5: view

No data available for UniProtKB/Swiss-Prot for KLHL5 Gene

Function for KLHL5 Gene

Phenotypes From GWAS Catalog for KLHL5 Gene

Gene Ontology (GO) - Molecular Function for KLHL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003779 actin binding IEA --
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with KLHL5: view

Phenotypes for KLHL5 Gene

genes like me logo Genes that share phenotypes with KLHL5: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL5 Gene

Localization for KLHL5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL5 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLHL5 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
endoplasmic reticulum 3
extracellular 2
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KLHL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm NAS 14672410
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with KLHL5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KLHL5 Gene

Pathways & Interactions for KLHL5 Gene

genes like me logo Genes that share pathways with KLHL5: view

Interacting Proteins for KLHL5 Gene

Gene Ontology (GO) - Biological Process for KLHL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0016567 protein ubiquitination IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with KLHL5: view

No data available for SIGNOR curated interactions for KLHL5 Gene

Drugs & Compounds for KLHL5 Gene

No Compound Related Data Available

Transcripts for KLHL5 Gene

Unigene Clusters for KLHL5 Gene

Kelch-like family member 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL5 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
SP1: -
SP2: - - - - -
SP3:
SP4:
SP5: - - -
SP6: - -
SP7: -
SP8:

Relevant External Links for KLHL5 Gene

GeneLoc Exon Structure for
KLHL5
ECgene alternative splicing isoforms for
KLHL5

Expression for KLHL5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLHL5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KLHL5 Gene

This gene is overexpressed in Heart (51.6) and Prostate (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KLHL5 Gene



Protein tissue co-expression partners for KLHL5 Gene

NURSA nuclear receptor signaling pathways regulating expression of KLHL5 Gene:

KLHL5

SOURCE GeneReport for Unigene cluster for KLHL5 Gene:

Hs.272251

mRNA Expression by UniProt/SwissProt for KLHL5 Gene:

Q96PQ7-KLHL5_HUMAN
Tissue specificity: Expressed in adrenal gland, ovary and thyroid gland and less abundantly in lymph node, prostate, spinal chord, testis and trachea.

Evidence on tissue expression from TISSUES for KLHL5 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with KLHL5: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL5 Gene

Orthologs for KLHL5 Gene

This gene was present in the common ancestor of animals.

Orthologs for KLHL5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL5 34 33
  • 99.51 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLHL5 34
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL5 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL5 34 33
  • 95.31 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KLHL5 34 33
  • 94.31 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhl5 33
  • 89.22 (n)
mouse
(Mus musculus)
Mammalia Klhl5 16 34 33
  • 87.57 (n)
chicken
(Gallus gallus)
Aves KLHL5 34 33
  • 82.69 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLHL5 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl5 33
  • 77.98 (n)
zebrafish
(Danio rerio)
Actinopterygii klhl5 34 33
  • 69.55 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001513 33
  • 57.4 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17754 34 35 33
  • 54.82 (n)
OneToMany
CG15097 35
  • 41 (a)
CG3571 35
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea T27E9.4b 35
  • 33 (a)
T27E9.4a 35
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 66 (a)
OneToMany
Cin.6119 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6119 33
Species where no ortholog for KLHL5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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)

Evolution for KLHL5 Gene

ENSEMBL:
Gene Tree for KLHL5 (if available)
TreeFam:
Gene Tree for KLHL5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KLHL5: view image

Paralogs for KLHL5 Gene

(33) SIMAP similar genes for KLHL5 Gene using alignment to 7 proteins:

  • KLHL5_HUMAN
  • H0Y9Y5_HUMAN
  • H0YAF6_HUMAN
  • L8E8A1_HUMAN
  • Q642I3_HUMAN
  • Q6PD75_HUMAN
  • Q7Z6D5_HUMAN

Pseudogenes.org Pseudogenes for KLHL5 Gene

genes like me logo Genes that share paralogs with KLHL5: view

Variants for KLHL5 Gene

Sequence variations from dbSNP and Humsavar for KLHL5 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000033272 -- 39,127,487(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000048856 -- 39,052,640(+) C/G genic_upstream_transcript_variant, intron_variant
rs1000066156 -- 39,130,532(+) T/G genic_downstream_transcript_variant, intron_variant
rs1000112032 -- 39,079,851(+) G/C intron_variant
rs1000124415 -- 39,072,991(+) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KLHL5 Gene

Variant ID Type Subtype PubMed ID
esv2727455 CNV deletion 23290073
esv28236 CNV gain 19812545
esv28537 CNV loss 19812545
esv3310335 CNV mobile element insertion 20981092
esv3338664 CNV insertion 20981092
nsv1073752 CNV deletion 25765185
nsv476983 CNV novel sequence insertion 20440878
nsv594013 CNV gain+loss 21841781
nsv822540 CNV gain 20364138

Variation tolerance for KLHL5 Gene

Residual Variation Intolerance Score: 37.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.05; 37.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLHL5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL5 Gene

Disorders for KLHL5 Gene

Additional Disease Information for KLHL5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for KLHL5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLHL5 Gene

Publications for KLHL5 Gene

  1. Characterization of a novel splicing variant of KLHL5, a member of the kelch protein family. (PMID: 14672410) Xu J … Mao Y (Molecular biology reports 2003) 2 3 4 22 58
  2. Cloning and characterization of KLHL5, a novel human gene encoding a kelch-related protein with a BTB domain. (PMID: 11590829) Wang S … Mao Y (Biochemical genetics 2001) 2 3 4 58
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for KLHL5 Gene

Sources for KLHL5 Gene

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