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KL klotho [ Homo sapiens (human) ]

Gene ID: 9365, updated on 28-Jun-2020

Summary

Official Symbol
KLprovided by HGNC
Official Full Name
klothoprovided by HGNC
Primary source
HGNC:HGNC:6344
See related
Ensembl:ENSG00000133116 MIM:604824
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HFTC3
Summary
This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]
Expression
Biased expression in kidney (RPKM 80.6), placenta (RPKM 14.7) and 1 other tissue See more
Orthologs

Genomic context

Location:
13q13.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (33016063..33066143)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (33590571..33640282)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 423 Neighboring gene TOMM22 pseudogene 3 Neighboring gene StAR related lipid transfer domain containing 13 Neighboring gene STARD13 antisense RNA Neighboring gene long intergenic non-protein coding RNA 2344

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-glucosidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
beta-glucuronidase activity IEA
Inferred from Electronic Annotation
more info
 
fibroblast growth factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fibroblast growth factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
fibroblast growth factor receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hormone activity IEA
Inferred from Electronic Annotation
more info
 
vitamin D binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
aging IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
energy reserve metabolic process IEA
Inferred from Electronic Annotation
more info
 
fibroblast growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fibroblast growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
insulin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein kinase B signaling TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
klotho
NP_004786.2
XP_006719958.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011485.1 RefSeqGene

    Range
    4991..54710
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004795.4NP_004786.2  klotho precursor

    See identical proteins and their annotated locations for NP_004786.2

    Status: REVIEWED

    Source sequence(s)
    AA890465, AB005142, AL161898
    Consensus CDS
    CCDS9347.1
    UniProtKB/Swiss-Prot
    Q9UEF7
    Related
    ENSP00000369442.3, ENST00000380099.4
    Conserved Domains (1) summary
    cl23725
    Location:58506
    Glyco_hydro_1; Glycosyl hydrolase family 1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    33016063..33066143
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719895.2XP_006719958.1  klotho isoform X1

    Conserved Domains (1) summary
    cl23725
    Location:210646
    Glyco_hydro_1; Glycosyl hydrolase family 1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_153683.2: Suppressed sequence

    Description
    NM_153683.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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