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    KLB klotho beta [ Homo sapiens (human) ]

    Gene ID: 152831, updated on 9-Dec-2024

    Summary

    Official Symbol
    KLBprovided by HGNC
    Official Full Name
    klotho betaprovided by HGNC
    Primary source
    HGNC:HGNC:15527
    See related
    Ensembl:ENSG00000134962 MIM:611135; AllianceGenome:HGNC:15527
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BKL
    Summary
    Enables fibroblast growth factor binding activity and fibroblast growth factor receptor binding activity. Predicted to be involved in carbohydrate metabolic process. Predicted to act upstream of or within positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway and positive regulation of cell population proliferation. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in fat (RPKM 16.3), liver (RPKM 5.1) and 2 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See KLB in Genome Data Viewer
    Location:
    4p14
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (39406930..39451533)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (39376567..39421181)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (39408550..39453153)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 32, pseudogene Neighboring gene replication factor C subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21457 Neighboring gene RNA, U6 small nuclear 887, pseudogene Neighboring gene microRNA 5591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21458 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:39459543-39460293 Neighboring gene Sharpr-MPRA regulatory region 11886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21459 Neighboring gene ribosomal protein L9 Neighboring gene lipoic acid synthetase

    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 protein information

    Preferred Names
    beta-klotho
    Names
    b-Klotho
    betaKlotho
    klotho beta like
    klotho beta-like protein

    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.

    mRNA and Protein(s)

    1. NM_175737.4NP_783864.1  beta-klotho

      See identical proteins and their annotated locations for NP_783864.1

      Status: VALIDATED

      Source sequence(s)
      AB079373, AC021148, AK302436, BJ993426
      Consensus CDS
      CCDS3451.1
      UniProtKB/Swiss-Prot
      Q2M3K8, Q86Z14
      UniProtKB/TrEMBL
      B7ZL50
      Related
      ENSP00000257408.4, ENST00000257408.5
      Conserved Domains (1) summary
      cl23725
      Location:77508
      Glyco_hydro_1; Glycosyl hydrolase family 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      39406930..39451533
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      39376567..39421181
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)