Aliases for KLHL31 Gene

Aliases for KLHL31 Gene

  • Kelch Like Family Member 31 2 3 5
  • BKLHD6 2 3 4
  • Kelch Repeat And BTB Domain-Containing Protein 1 3 4
  • Kelch Repeat And BTB (POZ) Domain Containing 1 2 3
  • BTB And Kelch Domain-Containing Protein 6 3 4
  • Kelch-Like Protein KLHL 3 4
  • Kelch-Like Protein 31 3 4
  • BA345L23.2 2 3
  • KBTBD1 3 4
  • KLHL 3 4
  • Kelch-Like 31 (Drosophila) 2
  • KLHL31 5

External Ids for KLHL31 Gene

Previous HGNC Symbols for KLHL31 Gene

  • KBTBD1

Previous GeneCards Identifiers for KLHL31 Gene

  • GC06M053513
  • GC06M053344

Summaries for KLHL31 Gene

GeneCards Summary for KLHL31 Gene

KLHL31 (Kelch Like Family Member 31) is a Protein Coding gene. Diseases associated with KLHL31 include Cold-Induced Sweating Syndrome. An important paralog of this gene is KLHL9.

UniProtKB/Swiss-Prot Summary for KLHL31 Gene

  • Transcriptional repressor in MAPK/JNK signaling pathway to regulate cellular functions. Overexpression inhibits the transcriptional activities of both the TPA-response element (TRE) and serum response element (SRE).

Additional gene information for KLHL31 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLHL31 Gene

Genomics for KLHL31 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KLHL31 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
GH06J053791 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 613.4 -129.0 -129014 5.8 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 SOX13 NFKBIZ RFX5 RCOR2 LRRC1 KLHL31 ENSG00000227885 MLIP-IT1 MLIP
GH06J053664 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 606.8 +2.1 2053 5.2 ZNF512 USF1 ZNF366 HLF TBP CTCF SP1 KLHL31 GCLC lnc-LRRC1-7
GH06J053718 Enhancer 0.9 Ensembl ENCODE 18.5 -53.3 -53296 1.3 CTCF NFKBIZ FOXA1 ZNF143 RAD21 TCF12 IRF2 TRIM22 PKNOX1 SCRT2 KLHL31 ENSG00000227885 lnc-KLHL31-5 LRRC1
GH06J053650 Promoter/Enhancer 1.5 ENCODE CraniofacialAtlas dbSUPER 6.1 +14.2 14203 2.2 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 TFE3 NFKBIZ ZNF692 RCOR2 GCLC KLHL31 GSTA4 lnc-LRRC1-7
GH06J053733 Enhancer 0.8 ENCODE 11 -69.0 -69008 3 CTCF ZNF629 PRDM1 SCRT2 SP1 ZNF639 JUND ZXDB RUNX3 ATF3 lnc-LRRC1-6 KLHL31 MLIP-IT1 LRRC1 HSALNG0050695 ENSG00000227885
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLHL31 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLHL31

Top Transcription factor binding sites by QIAGEN in the KLHL31 gene promoter:
  • aMEF-2
  • C/EBPalpha
  • CUTL1
  • HOXA5
  • MEF-2
  • MEF-2A
  • POU2F1
  • POU2F1a
  • Roaz
  • RORalpha1

Genomic Locations for KLHL31 Gene

Genomic Locations for KLHL31 Gene
chr6:53,647,916-53,665,854
(GRCh38/hg38)
Size:
17,939 bases
Orientation:
Minus strand
chr6:53,512,699-53,530,506
(GRCh37/hg19)
Size:
17,808 bases
Orientation:
Minus strand

Genomic View for KLHL31 Gene

Genes around KLHL31 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL31 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL31 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL31 Gene

Proteins for KLHL31 Gene

  • Protein details for KLHL31 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H511-KLH31_HUMAN
    Recommended name:
    Kelch-like protein 31
    Protein Accession:
    Q9H511
    Secondary Accessions:
    • A6N9J2
    • B2RP49

    Protein attributes for KLHL31 Gene

    Size:
    634 amino acids
    Molecular mass:
    70246 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KLHL31 Gene

Post-translational modifications for KLHL31 Gene

Other Protein References for KLHL31 Gene

No data available for DME Specific Peptides for KLHL31 Gene

Domains & Families for KLHL31 Gene

Gene Families for KLHL31 Gene

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

Protein Domains for KLHL31 Gene

InterPro:
Blocks:
  • Kelch
  • BTB/POZ domain
  • BTB/Kelch-associated
ProtoNet:

Suggested Antigen Peptide Sequences for KLHL31 Gene

GenScript: Design optimal peptide antigens:
  • Kelch-like protein KLHL (KLH31_HUMAN)
genes like me logo Genes that share domains with KLHL31: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KLHL31 Gene

Function for KLHL31 Gene

Molecular function for KLHL31 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor in MAPK/JNK signaling pathway to regulate cellular functions. Overexpression inhibits the transcriptional activities of both the TPA-response element (TRE) and serum response element (SRE).

Phenotypes From GWAS Catalog for KLHL31 Gene

Gene Ontology (GO) - Molecular Function for KLHL31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with KLHL31: view
genes like me logo Genes that share phenotypes with KLHL31: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHL31

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL31 Gene

Localization for KLHL31 Gene

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 KLHL31 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KLHL31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 18719355
GO:0005737 cytoplasm IDA 18719355
genes like me logo Genes that share ontologies with KLHL31: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KLHL31 Gene

Pathways & Interactions for KLHL31 Gene

PathCards logo

SuperPathways for KLHL31 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KLHL31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation IMP 18719355
GO:0046329 negative regulation of JNK cascade IMP 18719355
genes like me logo Genes that share ontologies with KLHL31: view

No data available for Pathways by source and SIGNOR curated interactions for KLHL31 Gene

Drugs & Compounds for KLHL31 Gene

No Compound Related Data Available

Transcripts for KLHL31 Gene

mRNA/cDNA for KLHL31 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHL31

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL31 Gene

No ASD Table

Relevant External Links for KLHL31 Gene

GeneLoc Exon Structure for
KLHL31

Expression for KLHL31 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KLHL31 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLHL31 Gene

This gene is overexpressed in Heart - Left Ventricle (x23.1), Heart - Atrial Appendage (x13.2), and Muscle - Skeletal (x9.4).

Protein differential expression in normal tissues from HIPED for KLHL31 Gene

This gene is overexpressed in Heart (55.8) and Fetal heart (13.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KLHL31 Gene



Protein tissue co-expression partners for KLHL31 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KLHL31

SOURCE GeneReport for Unigene cluster for KLHL31 Gene:

Hs.131064

mRNA Expression by UniProt/SwissProt for KLHL31 Gene:

Q9H511-KLH31_HUMAN
Tissue specificity: Strongly expressed in skeletal muscle and weakly in heart. According to PubMed:15302408, not expressed in other tissues. According to PubMed:18719355, abundantly expressed in both embryonic skeletal and heart tissues.

Evidence on tissue expression from TISSUES for KLHL31 Gene

  • Heart(3.3)
  • Muscle(3.1)
genes like me logo Genes that share expression patterns with KLHL31: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL31 Gene

Orthologs for KLHL31 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL31 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KLHL31 30 31
  • 99.26 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KLHL31 31
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia KLHL31 30 31
  • 91.13 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KLHL31 31
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Klhl31 30
  • 87.34 (n)
Mouse
(Mus musculus)
Mammalia Klhl31 30 17 31
  • 87.13 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
-- 31
  • 86 (a)
OneToMany
Chicken
(Gallus gallus)
Aves KLHL31 30 31
  • 77.07 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KLHL31 31
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia klhl31 30
  • 73.93 (n)
Zebrafish
(Danio rerio)
Actinopterygii klhl31 30 31
  • 69.82 (n)
OneToOne
Species where no ortholog for KLHL31 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 KLHL31 Gene

ENSEMBL:
Gene Tree for KLHL31 (if available)
TreeFam:
Gene Tree for KLHL31 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KLHL31: view image

Paralogs for KLHL31 Gene

Variants for KLHL31 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLHL31 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs3799260 - p.Val156Ile
rs3799261 - p.Ala508Thr
rs6908377 - p.Asn11Ser

Additional dbSNP identifiers (rs#s) for KLHL31 Gene

Structural Variations from Database of Genomic Variants (DGV) for KLHL31 Gene

Variant ID Type Subtype PubMed ID
esv2732097 CNV deletion 23290073
nsv1034955 CNV gain 25217958
nsv519037 CNV loss 19592680

Variation tolerance for KLHL31 Gene

Residual Variation Intolerance Score: 72.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.16; 51.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLHL31 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL31

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL31 Gene

Disorders for KLHL31 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KLHL31 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cold-induced sweating syndrome
  • crisponi syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KLHL31

genes like me logo Genes that share disorders with KLHL31: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLHL31 Gene

Publications for KLHL31 Gene

  1. A novel zebrafish kelchlike gene klhl and its human ortholog KLHL display conserved expression patterns in skeletal and cardiac muscles. (PMID: 15302408) Wu YL … Gong Z (Gene 2004) 3 4 23
  2. A novel human BTB-kelch protein KLHL31, strongly expressed in muscle and heart, inhibits transcriptional activities of TRE and SRE. (PMID: 18719355) Yu W … Wu X (Molecules and cells 2008) 3 4
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
  4. Update on the Kelch-like (KLHL) gene family. (PMID: 23676014) Dhanoa BS … Friedman JS (Human genomics 2013) 3
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3

Products for KLHL31 Gene

Sources for KLHL31 Gene