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

Gene ID: 389170, updated on 13-Mar-2020

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
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

Genomic context

See LEKR1 in Genome Data Viewer
Location:
3q25.31
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (156826287..157047659)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (156543069..156763918)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 886 Neighboring gene Sharpr-MPRA regulatory region 2365 Neighboring gene proliferation-associated 2G4 pseudogene 4 Neighboring gene CASP2 and RIPK1 domain containing adaptor with death domain pseudogene Neighboring gene Kruppel like factor 3 pseudogene 2 Neighboring gene RN7SK pseudogene 177 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
  • 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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16641, FLJ37161

General protein information

Preferred Names
leucine-, glutamate- and lysine-rich protein 1

NCBI Reference Sequences (RefSeq)

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_001004316.2NP_001004316.2  leucine-, glutamate- and lysine-rich protein 1 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, ENST00000356539.8
    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  leucine-, glutamate- and lysine-rich protein 1 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/TrEMBL
    D3DNK7
    Related
    ENSP00000474182.1, ENST00000491763.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    156826287..157047659
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713631.3XP_006713694.1  leucine-, glutamate- and lysine-rich protein 1 isoform X1

    Conserved Domains (2) summary
    TIGR04523
    Location:202755
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    cl23765
    Location:637759
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  2. XM_011512803.2XP_011511105.1  leucine-, glutamate- and lysine-rich protein 1 isoform X2

    Conserved Domains (2) summary
    pfam09755
    Location:344659
    DUF2046; Uncharacterized conserved protein H4 (DUF2046)
    pfam14235
    Location:574647
    DUF4337; Domain of unknown function (DUF4337)
  3. XM_011512808.2XP_011511110.1  leucine-, glutamate- and lysine-rich protein 1 isoform X5

    See identical proteins and their annotated locations for XP_011511110.1

    Conserved Domains (1) summary
    COG1196
    Location:197539
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  4. XM_011512807.2XP_011511109.1  leucine-, glutamate- and lysine-rich protein 1 isoform X5

    See identical proteins and their annotated locations for XP_011511109.1

    Conserved Domains (1) summary
    COG1196
    Location:197539
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  5. XM_011512806.2XP_011511108.1  leucine-, glutamate- and lysine-rich protein 1 isoform X4

    Conserved Domains (1) summary
    COG1196
    Location:178539
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  6. XM_011512811.2XP_011511113.1  leucine-, glutamate- and lysine-rich protein 1 isoform X8

    See identical proteins and their annotated locations for XP_011511113.1

    Conserved Domains (1) summary
    pfam14197
    Location:225285
    Cep57_CLD_2; Centrosome localization domain of PPC89
  7. XM_011512815.2XP_011511117.1  leucine-, glutamate- and lysine-rich protein 1 isoform X10

    Conserved Domains (1) summary
    pfam14197
    Location:225285
    Cep57_CLD_2; Centrosome localization domain of PPC89
  8. XM_011512816.2XP_011511118.1  leucine-, glutamate- and lysine-rich protein 1 isoform X11

    Conserved Domains (1) summary
    pfam14197
    Location:225285
    Cep57_CLD_2; Centrosome localization domain of PPC89
  9. XM_005247442.4XP_005247499.1  leucine-, glutamate- and lysine-rich protein 1 isoform X12

    See identical proteins and their annotated locations for XP_005247499.1

    UniProtKB/TrEMBL
    D3DNK7
    Related
    ENSP00000425282.1, ENST00000477399.5
  10. XM_011512804.3XP_011511106.1  leucine-, glutamate- and lysine-rich protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011511106.1

    UniProtKB/TrEMBL
    J3KP02
    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
  11. XM_005247441.4XP_005247498.1  leucine-, glutamate- and lysine-rich protein 1 isoform X3

    See identical proteins and their annotated locations for XP_005247498.1

    UniProtKB/TrEMBL
    J3KP02
    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
  12. XM_017006375.1XP_016861864.1  leucine-, glutamate- and lysine-rich protein 1 isoform X7

    Conserved Domains (1) summary
    cl23765
    Location:262384
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  13. XM_011512814.2XP_011511116.1  leucine-, glutamate- and lysine-rich protein 1 isoform X9

    See identical proteins and their annotated locations for XP_011511116.1

    Conserved Domains (1) summary
    cl23765
    Location:203325
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  14. XM_017006374.1XP_016861863.1  leucine-, glutamate- and lysine-rich protein 1 isoform X7

    Conserved Domains (1) summary
    cl23765
    Location:262384
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  15. XM_011512809.1XP_011511111.1  leucine-, glutamate- and lysine-rich protein 1 isoform X6

    Conserved Domains (1) summary
    cl23765
    Location:344466
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  16. XM_006713636.2XP_006713699.1  leucine-, glutamate- and lysine-rich protein 1 isoform X9

    See identical proteins and their annotated locations for XP_006713699.1

    Conserved Domains (1) summary
    cl23765
    Location:203325
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  17. XM_011512813.2XP_011511115.1  leucine-, glutamate- and lysine-rich protein 1 isoform X9

    See identical proteins and their annotated locations for XP_011511115.1

    Conserved Domains (1) summary
    cl23765
    Location:203325
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

RNA

  1. XR_924134.2 RNA Sequence

  2. XR_924135.3 RNA Sequence

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