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Aliases for KLB Gene

Aliases for KLB Gene

  • Klotho Beta 2 3
  • BKL 3 4 6
  • Klotho Beta-Like Protein 3 4
  • BetaKlotho 3 4
  • Klotho Beta Like 3
  • Beta-Klotho 3
  • EC 3.2.1 63

External Ids for KLB Gene

Summaries for KLB Gene

GeneCards Summary for KLB Gene

KLB (Klotho Beta) is a Protein Coding gene. Diseases associated with KLB include diarrhea. Among its related pathways are PI-3K cascade and PI-3K cascade. GO annotations related to this gene include fibroblast growth factor binding and hydrolase activity, hydrolyzing O-glycosyl compounds. An important paralog of this gene is GBA3.

UniProtKB/Swiss-Prot for KLB Gene

  • Contributes to the transcriptional repression of cholesterol 7-alpha-hydroxylase (CYP7A1), the rate-limiting enzyme in bile acid synthesis. Probably inactive as a glycosidase. Increases the ability of FGFR1 and FGFR4 to bind FGF21 (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLB Gene

Genomics for KLB Gene

Genomic Location for KLB Gene

Start:
39,406,853 bp from pter
End:
39,451,536 bp from pter
Size:
44,684 bases
Orientation:
Plus strand

Genomic View for KLB Gene

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

RefSeq DNA sequence for KLB Gene

Regulatory Elements for KLB Gene

Proteins for KLB Gene

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

    Protein Symbol:
    Q86Z14-KLOTB_HUMAN
    Recommended name:
    Beta-klotho
    Protein Accession:
    Q86Z14
    Secondary Accessions:
    • Q2M3K8

    Protein attributes for KLB Gene

    Size:
    1044 amino acids
    Molecular mass:
    119808 Da
    Quaternary structure:
    • Interacts with FGFR1 and FGFR4 (By similarity). Interacts with FGF19; this interaction is direct. Interacts (via C-terminus) with FGF21; this interaction is direct.

neXtProt entry for KLB Gene

Proteomics data for KLB Gene at MOPED

Selected DME Specific Peptides for KLB Gene

Post-translational modifications for KLB Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn71, Asn120, Asn125, Asn211, Asn308, Asn391, Asn554, Asn611, Asn702, Asn706, and Asn971

Other Protein References for KLB Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for KLB Gene

Protein Domains for KLB Gene

Suggested Antigen Peptide Sequences for KLB Gene

Graphical View of Domain Structure for InterPro Entry

Q86Z14

UniProtKB/Swiss-Prot:

KLOTB_HUMAN
Domain:
  • Contains 2 glycosyl hydrolase 1 regions. However, the first region lacks the essential Glu active site residue at position 241, and the second one lacks the essential Glu active site residue at position 889. These domains are therefore predicted to be inactive:
    • Q86Z14
Family:
  • Belongs to the glycosyl hydrolase 1 family. Klotho subfamily.:
    • Q86Z14
genes like me logo Genes that share domains with KLB: view

No data available for Gene Families for KLB Gene

Function for KLB Gene

Molecular function for KLB Gene

UniProtKB/Swiss-Prot Function: Contributes to the transcriptional repression of cholesterol 7-alpha-hydroxylase (CYP7A1), the rate-limiting enzyme in bile acid synthesis. Probably inactive as a glycosidase. Increases the ability of FGFR1 and FGFR4 to bind FGF21 (By similarity).

Enzyme Numbers (IUBMB) for KLB Gene

Gene Ontology (GO) - Molecular Function for KLB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0005104 fibroblast growth factor receptor binding IPI 17627937
GO:0005515 protein binding IPI 19059246
GO:0017134 fibroblast growth factor binding IPI 18829467
genes like me logo Genes that share ontologies with KLB: view
genes like me logo Genes that share phenotypes with KLB: view

Animal Models for KLB Gene

MGI Knock Outs for KLB:

miRNA for KLB Gene

miRTarBase miRNAs that target KLB

No data available for Transcription Factor Targeting and HOMER Transcription for KLB Gene

Localization for KLB Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLB Gene

Cell membrane; Single-pass type III membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KLB Gene COMPARTMENTS Subcellular localization image for KLB gene
Compartment Confidence
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KLB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KLB: view

Pathways for KLB Gene

SuperPathways for KLB Gene

Superpath Contained pathways
1 PI-3K cascade
2 Signaling by FGFR
3 Insulin receptor signalling cascade
4 FGFR ligand binding and activation
5 Downstream Signaling Events Of B Cell Receptor (BCR)
genes like me logo Genes that share pathways with KLB: view

Pathways by source for KLB Gene

Gene Ontology (GO) - Biological Process for KLB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0008284 positive regulation of cell proliferation IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0008543 fibroblast growth factor receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with KLB: view

Transcripts for KLB Gene

mRNA/cDNA for KLB Gene

Unigene Clusters for KLB Gene

Klotho beta:
Representative Sequences:

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

No ASD Table

Relevant External Links for KLB Gene

GeneLoc Exon Structure for
KLB
ECgene alternative splicing isoforms for
KLB

Expression for KLB Gene

mRNA expression in normal human tissues for KLB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (17.2), Adipose - Subcutaneous (7.6), and Adipose - Visceral (Omentum) (7.4).

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

SOURCE GeneReport for Unigene cluster for KLB Gene Hs.90756

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

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

Orthologs for KLB Gene

This gene was present in the common ancestor of animals.

Orthologs for KLB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLB 35
  • 99.27 (n)
  • 99.23 (a)
KLB 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KLB 35
  • 87.72 (n)
  • 86.8 (a)
KLB 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLB 35
  • 88.69 (n)
  • 86.11 (a)
KLB 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klb 35
  • 81.16 (n)
  • 79.08 (a)
Klb 16
Klb 36
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLB 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLB 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klb 35
  • 83.24 (n)
  • 81.8 (a)
chicken
(Gallus gallus)
Aves KLB 35
  • 71.86 (n)
  • 71.9 (a)
KLB 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLB 36
  • 62 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13366 35
tropical clawed frog
(Silurana tropicalis)
Amphibia klb 35
  • 60.23 (n)
  • 55.95 (a)
zebrafish
(Danio rerio)
Actinopterygii KLB 36
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9701 36
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea klo-1 36
  • 31 (a)
ManyToMany
klo-2 36
  • 31 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToMany
Species with no ortholog for KLB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 KLB Gene

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

Paralogs for KLB Gene

Paralogs for KLB Gene

Selected SIMAP similar genes for KLB Gene using alignment to 3 proteins:

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

Variants for KLB Gene

Sequence variations from dbSNP and Humsavar for KLB Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs900563 -- 39,407,796(-) TATAA(G/T)AAGAA intron-variant
rs1542423 -- 39,430,512(+) CAGGC(C/T)CCTCT intron-variant
rs1973107 -- 39,424,777(+) GCATG(C/T)GCCAC intron-variant
rs1973108 -- 39,424,789(+) ACGCC(C/T)GGCTA intron-variant
rs1979283 -- 39,429,349(+) TAATC(C/T)CTTCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv878940 CNV Gain 21882294
nsv878941 CNV Gain 21882294
esv270754 CNV Insertion 20981092
esv274155 CNV Insertion 20981092
esv2665681 CNV Deletion 23128226
esv2673187 CNV Deletion 23128226
nsv878942 CNV Loss 21882294

Relevant External Links for KLB Gene

HapMap Linkage Disequilibrium report
KLB
Human Gene Mutation Database (HGMD)
KLB

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

Disorders for KLB Gene

(1) MalaCards Diseases for KLB Gene

Search for KLB Gene in MalaCards »

(1) University of Copenhagen DISEASES for KLB Gene

Relevant External Links for KLB

Genetic Association Database (GAD)
KLB
Human Genome Epidemiology (HuGE) Navigator
KLB
genes like me logo Genes that share disorders with KLB: view

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

Publications for KLB Gene

  1. 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
  2. C-terminal tail of FGF19 determines its specificity toward Klotho co- receptors. (PMID: 18829467) Wu X. … Li Y. (J. Biol. Chem. 2008) 3 4
  3. FGF21 signalling pathway and metabolic traits - genetic association analysis. (PMID: 20717167) Kaess B.M. … Tomaszewski M. (Eur. J. Hum. Genet. 2010) 3 48
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 48
  5. Different roles of N- and C- termini in the functional activity of FGF21. (PMID: 19117008) Micanovic R. … Kharitonenkov A. (J. Cell. Physiol. 2009) 3 4

Products for KLB Gene

Sources for KLB Gene

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