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    KL klotho [ Homo sapiens (human) ]

    Gene ID: 9365, updated on 19-Feb-2024

    Summary

    Official Symbol
    KLprovided by HGNC
    Official Full Name
    klothoprovided by HGNC
    Primary source
    HGNC:HGNC:6344
    See related
    Ensembl:ENSG00000133116 MIM:604824; AllianceGenome:HGNC:6344
    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
    KLA; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    13q13.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (33016243..33066143)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (32233557..32283464)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (33590561..33640280)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr13:33395368-33395536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7565 Neighboring gene long intergenic non-protein coding RNA 423 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7566 Neighboring gene TOMM22 pseudogene 3 Neighboring gene translation initiation factor IF-2-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:33590165-33590740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:33590741-33591318 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7567 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:33666443-33666999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7570 Neighboring gene StAR related lipid transfer domain containing 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7571 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7572 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:33760051-33761250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7573 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:33770183-33770373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7575 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7576 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:33834523-33835023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7577 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7578 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-glucosidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables beta-glucuronidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables fibroblast growth factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables fibroblast growth factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables fibroblast growth factor receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables vitamin D binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in determination of adult lifespan IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in energy reserve metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fibroblast growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of systemic arterial blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in norepinephrine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to angiotensin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to vitamin D IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    klotho
    Names
    alpha-klotho
    NP_004786.2
    XP_006719958.1
    XP_047286731.1
    XP_047286732.1
    XP_054231165.1
    XP_054231166.1
    XP_054231167.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_011485.2 RefSeqGene

      Range
      5182..54902
      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
      Q5VZ95, Q96KV5, Q96KW5, Q9UEF7, Q9UEI9, Q9Y4F0
      Related
      ENSP00000369442.3, ENST00000380099.4
      Conserved Domains (1) summary
      cl23725
      Location:58506
      Glyco_hydro_1; Glycosyl hydrolase family 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      33016243..33066143
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006719895.3XP_006719958.1  klotho isoform X1

      Conserved Domains (1) summary
      cl23725
      Location:210646
      Glyco_hydro_1; Glycosyl hydrolase family 1
    2. XM_047430776.1XP_047286732.1  klotho isoform X3

    3. XM_047430775.1XP_047286731.1  klotho isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      32233557..32283464
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375190.1XP_054231165.1  klotho isoform X1

    2. XM_054375192.1XP_054231167.1  klotho isoform X3

    3. XM_054375191.1XP_054231166.1  klotho isoform X2

    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.