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    LEKR1 leucine, glutamate and lysine rich 1 [ Homo sapiens (human) ]

    Gene ID: 389170, updated on 17-Sep-2024

    Summary

    Official Symbol
    LEKR1provided by HGNC
    Official Full Name
    leucine, glutamate and lysine rich 1provided by HGNC
    Primary source
    HGNC:HGNC:33765
    See related
    Ensembl:ENSG00000197980 MIM:613536; AllianceGenome:HGNC:33765
    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
    Expression
    Biased expression in testis (RPKM 1.9), thyroid (RPKM 0.4) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LEKR1 in Genome Data Viewer
    Location:
    3q25.31
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (156826353..157046129)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (159601066..159820688)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (156544142..156763918)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene methyltransferase like 15 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:156468641-156469394 Neighboring gene long intergenic non-protein coding RNA 886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20732 Neighboring gene Sharpr-MPRA regulatory region 2365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14839 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:156534749-156535948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20733 Neighboring gene Sharpr-MPRA regulatory region 161 Neighboring gene proliferation-associated 2G4 pseudogene 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:156684212-156684369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20734 Neighboring gene KLF3 pseudogene 2 Neighboring gene CRADD pseudogene 1 Neighboring gene RN7SK pseudogene 177 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:156760074-156760241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20736 Neighboring gene long intergenic non-protein coding RNA 880 Neighboring gene long intergenic non-protein coding RNA 2029 Neighboring gene long intergenic non-protein coding RNA 881

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits.
    EBI GWAS Catalog
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    EBI GWAS Catalog
    Genome-wide meta-analysis for severe diabetic retinopathy.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog
    The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study.
    EBI GWAS Catalog
    Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    protein LEKR1
    Names
    leucine-, glutamate- and lysine-rich protein 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.

    mRNA and Protein(s)

    1. NM_001004316.3NP_001004316.2  protein LEKR1 isoform 1

      See identical proteins and their annotated locations for NP_001004316.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). It should be noted that this exon combination lacks full-length transcript support; it is predicted based on partial human and orthologous transcript alignments.
      Source sequence(s)
      AC092993, AC106708, AC117392
      UniProtKB/TrEMBL
      J3KP02
      Related
      ENSP00000348936.4, ENST00000356539.9
      Conserved Domains (1) summary
      cl23765
      Location:470592
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
    2. NM_001193283.2NP_001180212.1  protein LEKR1 isoform 2

      See identical proteins and their annotated locations for NP_001180212.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' and 3' UTRs, and lacks several exons in the 3' coding region but includes an alternate 3' exon, compared to variant 1. The resulting isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC106708, BC041967, DA075031
      Consensus CDS
      CCDS54660.1
      UniProtKB/Swiss-Prot
      D3DNK8, Q6ZMV7, S4R3D4
      Related
      ENSP00000474182.1, ENST00000491763.1

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      156826353..157046129
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      159601066..159820688
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)