U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    LCTL lactase like [ Homo sapiens (human) ]

    Gene ID: 197021, updated on 5-Mar-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    LCTLprovided by HGNC
    Official Full Name
    lactase likeprovided by HGNC
    Primary source
    HGNC:HGNC:15583
    See related
    Ensembl:ENSG00000188501 MIM:617060; AllianceGenome:HGNC:15583
    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
    KLG; KLPH
    Summary
    This gene encodes a member of family 1 glycosidases. Glycosidases are enzymes that hydrolyze glycosidic bonds and are classified into families based on primary amino acid sequence. Most members of family 1 have two conserved glutamic acid residues, which are required for enzymatic activity. The mouse ortholog of this protein has been characterized and has a domain structure of an N-terminal signal peptide, glycosidase domain, transmembrane domain, and a short cytoplasmic tail. It lacks one of the conserved glutamic acid residues important for catalysis, and its function remains to be determined (PMID: 12084582). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
    Expression
    Broad expression in testis (RPKM 4.1), lymph node (RPKM 0.7) and 20 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    15q22.31
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (66547532..66565998, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (64369025..64387488, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (66839870..66858336, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:66795563-66796062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9616 Neighboring gene small nucleolar RNA, C/D box 18A Neighboring gene small nucleolar RNA, C/D box 16 Neighboring gene zwilch kinetochore protein Neighboring gene ribosomal protein L4 Neighboring gene Sharpr-MPRA regulatory region 674 Neighboring gene long intergenic non-protein coding RNA 1169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66886299-66886800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66886801-66887300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66909444-66910022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:66910023-66910601 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:66914309-66914837 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:66914838-66915365 Neighboring gene Sharpr-MPRA regulatory region 14643 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:66965231-66965789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:66965790-66966347 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:66969772-66970272 Neighboring gene Sharpr-MPRA regulatory region 4382 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:66992708-66993208 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:66993253-66993439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6568 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:66998965-66999484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:67004109-67004608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:67014656-67015156 Neighboring gene SMAD family member 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:67026431-67026931 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:67034899-67035399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67036859-67037484 Neighboring gene Sharpr-MPRA regulatory region 14210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:67050021-67050579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:67055291-67056020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67057907-67058476 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67058477-67059045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:67062107-67062668 Neighboring gene HNF4 motif-containing MPRA enhancer 143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9617

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Sequence, structural, functional, and phylogenetic analyses of three glycosidase families. Mian IS. Blood Cells Mol Dis, 1998 Jun. PMID 9779294
    2. Short hairpin RNA screen indicates that Klotho beta/FGF19 protein overcomes stasis in human colonic epithelial cells. Kim J, et al. J Biol Chem, 2011 Dec 16. PMID 22020932, Free PMC Article
    3. Identification of a novel mouse membrane-bound family 1 glycosidase-like protein, which carries an atypical active site structure. Ito S, et al. Biochim Biophys Acta, 2002 Jul 19. PMID 12084582
    4. ZFP36L2 is a cell cycle-regulated CCCH protein necessary for DNA lesion-induced S-phase arrest. Noguchi A, et al. Biol Open, 2018 Mar 12. PMID 29449217, Free PMC Article
    5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. Zhang Z, et al. Protein Sci, 2004 Oct. PMID 15340161, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ33279

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-glucosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lens morphogenesis in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in brush border IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    lactase-like protein
    Names
    KL lactase phlorizin hydrolase
    gammaklotho
    klotho gamma
    klotho/lactase-phlorizin hydrolase-related protein

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_001278562.3 → NP_001265491.1  lactase-like protein isoform 2

      See identical proteins and their annotated locations for NP_001265491.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC116913
      Consensus CDS
      CCDS61678.1
      UniProtKB/TrEMBL
      A0A8Q3WKK9
      Related
      ENSP00000445419.1, ENST00000537670.5
      Conserved Domains (1) summary
      cl23725
      Location:4 → 330
      Glyco_hydro_1; Glycosyl hydrolase family 1

    2. NM_001394632.1 → NP_001381561.1  lactase-like protein isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC116913
      Conserved Domains (1) summary
      cl23725
      Location:2 → 264
      Glyco_hydro; Glycosyl hydrolases

    3. NM_001394633.1 → NP_001381562.1  lactase-like protein isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC116913
      Conserved Domains (1) summary
      cl23725
      Location:5 → 235
      Glyco_hydro; Glycosyl hydrolases

    4. NM_207338.4 → NP_997221.2  lactase-like protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_997221.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC116913
      Consensus CDS
      CCDS10220.1
      UniProtKB/Swiss-Prot
      B3KQY0, Q6UWM7
      UniProtKB/TrEMBL
      A0A8Q3WKK9
      Related
      ENSP00000512002.1, ENST00000695545.1
      Conserved Domains (1) summary
      cl23725
      Location:33 → 503
      Glyco_hydro_1; Glycosyl hydrolase family 1

    RNA

    1. NR_103739.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' terminal exon and lacks several internal exons compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AC116913

    2. NR_172140.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC116913

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      66547532..66565998 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      64369025..64387488 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UWM7.2 GenPept UniProtKB/Swiss-Prot:Q6UWM7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous