KLB Gene
protein-coding GIFtS: 52
GCID: GC04P039408
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|
klotho beta
| |
Aliases
for KLB gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Klotho Beta1 2 | | BetaKlotho3 | | BKL2 3 5 | | Klotho Beta Like2 | | Klotho Beta-Like Protein2 3 | | BetaKlotho3 | | Beta-Klotho1 | | EC 3.2.18 |
Export aliases for KLB gene to outside databasesPrevious GC identifers: GC04P039232 GC04P039084 GC04P038733 |
Summaries
for KLB gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: KLOTB_HUMAN, Q86Z14Function: Contributes to the transcriptional repression of cholesterol 7-alpha-hydroxylase (CYP7A1), the rate-limitingenzyme in bile acid synthesis. Probably inactive as a glycosidase. Increases the ability of FGFR1 and FGFR4 to bindFGF21 (By similarity)
|
Genomic Views
for KLB gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000004.11 NC_018915.1 NT_016297.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the KLB gene promoter:
HOXA9B HOXA9 CUTL1 Meis-1b Pax-3 ARP-1 Sox9 TGIF Meis-1 RSRFC4
Other transcription factors
Search SABiosciences Chromatin IP Primers for KLB
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLB |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 4p14 Ensembl cytogenetic band: 4p14 HGNC cytogenetic band: 4p14KLB Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P039408: view genomic region
(about GC identifiers)
Start:
|
39,408,473 bp from pter |
End:
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39,453,156 bp from pter |
Size:
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44,684 bases |
Orientation:
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plus strand |
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Proteins
for KLB gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: KLOTB_HUMAN, Q86Z14 (See
protein sequence)Recommended Name: Beta-klotho Size: 1044 amino acids; 119808 Da
Subunit: Interacts with FGFR1 and FGFR4 (By similarity). Interacts with FGF19; this interaction is direct. Interacts(via C-terminus) with FGF21; this interaction is direct
Subcellular location: Cell membrane; Single-pass type III membrane protein (Potential)
Secondary accessions: Q2M3K8Explore the universe of human proteins at neXtProt for KLB: NX_Q86Z14
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q86Z14
2 DME Specific Peptides for KLB (Q86Z14)
KLB Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_783864.1
ENSEMBL proteins: ENSP00000257408 Reactome Protein details: Q86Z14
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005886 | plasma membrane |
TAS | -- | | GO:0016021 | integral to membrane |
IEA | -- |
KLB for ontologies About GeneDecksing
KLB Antibody Products:
Assay Products for KLB: |
Protein
Domains /
Families
for KLB gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KLB for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q86Z14ProtoNet protein and cluster: Q86Z14 UniProtKB/Swiss-Prot: KLOTB_HUMAN, Q86Z14Domain: Contains 2 glycosyl hydrolase 1 regions. However, the first region lacks the essential Glu active site residueat position 241, and the second one lacks the essential Glu active site residue at position 889. These domains aretherefore predicted to be inactiveSimilarity: Belongs to the glycosyl hydrolase 1 family. Klotho subfamily |
Function
for KLB gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: KLOTB_HUMAN, Q86Z14Function: Contributes to the transcriptional repression of cholesterol 7-alpha-hydroxylase (CYP7A1), the rate-limitingenzyme in bile acid synthesis. Probably inactive as a glycosidase. Increases the ability of FGFR1 and FGFR4 to bindFGF21 (By similarity)Enzyme Number (IUBMB): EC 3.2.12
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KLB (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KLB
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for KLB | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLB |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLB |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004553 | hydrolase activity, hydrolyzing O-glycosyl compounds |
IEA | -- | | GO:0017134 | fibroblast growth factor binding |
IPI | 19117008 | | GO:0043169 | cation binding |
IEA | -- |
KLB for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for KLB:
Animal Models:
Mouse knock-outs for KLB: Klbtm1Yin Klbtm1.2Sakl
9 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Klb):
KLB for phenotypes About GeneDecksing
|
Pathways & Interactions
for KLB gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Signaling by FGFR | | | 2 | PIP3 activates AKT signaling | | | 3 | IRS-related events | | | 4 | FGFR2c binds to FGF | | | 5 | Immune System | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  BioSystems Pathway for KLB
5/44 
Reactome Pathways for KLB (see all 44)
KLB for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KLB
STRING Interaction
Network Preview (showing 5 interactants - click image to see more details)
5 Interacting proteins for KLB (Q86Z142, 3 ENSP000002574084) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005975 | carbohydrate metabolic process |
IEA | -- | | GO:0008284 | positive regulation of cell proliferation |
IEA | -- | | GO:0008286 | insulin receptor signaling pathway |
TAS | -- | | GO:0008543 | fibroblast growth factor receptor signaling pathway |
TAS | -- | | GO:0090080 | positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway |
IEA | -- |
KLB for ontologies About GeneDecksing
|
Drugs & Compounds
for KLB gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for KLB
Search CenterWatch for drugs/clinical trials and news about KLB / KLOTB
|
Transcripts
for KLB gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for KLB gene: NM_175737.3 Unigene Cluster for KLB: Klotho beta Hs.90756 [show with all ESTs]Unigene Representative Sequence: NM_1757371 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000257408(uc003gua.3 uc011byj.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KLB (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KLB
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for KLB | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KLB | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLB |
Additional cDNA sequence: AB079373.1 AK302436.1 BC033021.1 BC104871.1 BC113653.1 BC143575.1 1 DOTS entry: DT.40114247 24/31 AceView cDNA sequences (see all 31): AI733540 NM_175737 BX097669 AI150491 AI668605 AB079373 CD251904 AI867702 BC033021 CD246050 BG720169 AA342834 AW965017 H28364 CB269613 AA918170 AI820779 CB161552 CD300039 AI677905 T69664 AA868484 AI968315 BX089923
GeneLoc Exon Structure
|
Expression
for KLB gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| KLB expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See KLB Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KLB
SOURCE GeneReport for Unigene cluster: Hs.90756
SABiosciences Custom PCR Arrays for KLB
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KLB
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KLB | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KLB | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KLB | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLB |
Orthologs
for KLB gene
(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)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for KLB gene from 8/19 species (see all 19) About this table
ENSEMBL Gene Tree for KLB (if available)
TreeFam Gene Tree for KLB (if available) |
Paralogs
for KLB gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for KLB gene
- KL2 LCTL2 LCT2
4 SIMAP similar genes for KLB using alignment to 3 protein entries: KLOTB_HUMAN (see all proteins):KL GBA3 LCT LCTL
KLB for paralogs About GeneDecksing
|
Genomic Variants
for KLB gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
Human Gene Mutation Database (HGMD): KLB
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KLB |
|
Disorders
/ Diseases
for KLB gene
(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.)
About This Section
|
KLB for disorders About GeneDecksing
OMIM gene information: 611135
OMIM disorders: --
6  diseases for KLB: About MalaCardsirritable bowel syndrome epithelial ovarian cancer ovarian cancer diarrhea
pneumonia cholesterol
1 disease from the University of Copenhagen DISEASES database for KLB:Irritable bowel syndrome Human Genome Epidemiology (HuGE) Navigator: KLB (3 documents)
Export disorders for KLB gene to outside databases
|
Publications
for KLB gene (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)
About This Section
|
PubMed articles for KLB gene, integrated from 9 sources (see all 23):
(articles sorted by number of sources associating them with KLB) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Different roles of N- and C- termini in the functional activity of FGF21. (PubMed id 19117008)1, 2 Micanovic R.... Kharitonenkov A. (2009)
- C-terminal tail of FGF19 determines its specificity toward Klotho co-receptors. (PubMed id 18829467)1, 2 Wu X....Li Y. (2008)
- 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. (2004)
- Differential specificity of endocrine FGF19 and FGF21 to FGFR1 and FGFR4 in complex with KLB. (PubMed id 22442730)1 Yang C....Luo Y. (2012)
- Pharmacogenetics of the effects of colesevelam on colo nic transit in irritable bowel syndrome with diarrhea. (PubMed id 22271411)1 Wong B.S....Zinsmeister A.R. (2012)
- Understanding the physical interactions in the FGF21/F GFR/b-Klotho complex: structural requirements and implications in FGF21 signalin g. (PubMed id 22248288)1 Yie J....Wang M. (2012)
- Dynamics and Distribution of Klothob (KLB) and fibrobl ast growth factor receptor-1 (FGFR1) in living cells reveal the fibroblast growt h factor-21 (FGF21)-induced receptor complex. (PubMed id 22523080)1 Ming A.Y....Rocheleau J.V. (2012)
- Klotho-beta overexpression as a novel target for suppressing proliferation and fibroblast growth factor receptor-4 signaling in hepato cellular carcinoma. (PubMed id 22439738)1 Poh W....Ho H.K. (2012)
- Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
- Short hairpin RNA screen indicates that Klotho beta/FG F19 protein overcomes stasis in human colonic epithelial cells. (PubMed id 22020932)1 Kim J....Wright W.E. (2011)
|
External Searches for KLB gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing KLB gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KLB gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KLB gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for KLB | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for KLB gene:
Search GeneIP for patents involving KLB
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KLB gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for KLB | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KLB | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KLB | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for KLB | | OriGene 3'-UTR Clone for KLB | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KLB | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KLB | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KLB | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KLB | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLB | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KLB | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KLB | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KLB |
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| |  |  |  |  | | | | |
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 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLB |
|  |  |  | | | | Search ThermoFisher Antibodies for KLB |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLB |
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