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LCTL lactase like [ Homo sapiens (human) ]

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

Summary

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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
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Genomic context

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See LCTL in Genome Data Viewer
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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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Preferred Names
lactase-like protein
Names
KL lactase phlorizin hydrolase
gammaklotho
klotho gamma
klotho/lactase-phlorizin hydrolase-related protein

NCBI Reference Sequences (RefSeq)

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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

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