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    LRRC31 leucine rich repeat containing 31 [ Homo sapiens (human) ]

    Gene ID: 79782, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LRRC31provided by HGNC
    Official Full Name
    leucine rich repeat containing 31provided by HGNC
    Primary source
    HGNC:HGNC:26261
    See related
    Ensembl:ENSG00000114248 MIM:620925; AllianceGenome:HGNC:26261
    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
    HEL-S-293
    Expression
    Biased expression in colon (RPKM 8.8), small intestine (RPKM 3.9) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC31 in Genome Data Viewer
    Location:
    3q26.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (169839172..169869935, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (172623396..172654201, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (169556960..169587723, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:169490847-169491350 Neighboring gene myoneurin Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 3:169512145 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 3:169524016 Neighboring gene leucine rich repeat containing 34 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 3:169526272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20787 Neighboring gene leucine rich repeats and IQ motif containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20788 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:169564950-169565107 Neighboring gene keratin 18 pseudogene 43 Neighboring gene sterile alpha motif domain containing 7 Neighboring gene family with sequence similarity 20 member B pseudogene

    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. LRRC31 is induced by IL-13 and regulates kallikrein expression and barrier function in the esophageal epithelium. D'Mello RJ, et al. Mucosal Immunol, 2016 May. PMID 26462420, Free PMC Article
    2. Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk. Walsh KM, et al. Nat Genet, 2014 Jul. PMID 24908248, Free PMC Article
    3. LRRC31 inhibits DNA repair and sensitizes breast cancer brain metastasis to radiation therapy. Chen Y, et al. Nat Cell Biol, 2020 Oct. PMID 33005030, Free PMC Article
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    5. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. Giurato G, et al. Sci Data, 2018 Mar 6. PMID 29509190, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. this report shows that leucine-rich repeat-containing protein 31 (LRRC31) regulates esophageal epithelial barrier function
      Title: LRRC31 is induced by IL-13 and regulates kallikrein expression and barrier function in the esophageal epithelium.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23259, FLJ40019

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 31
    Names
    epididymis secretory protein Li 293
    epididymis secretory sperm binding 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_001277127.2 → NP_001264056.1  leucine-rich repeat-containing protein 31 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK026912, BC143582, DA425899
      Consensus CDS
      CCDS63833.1
      UniProtKB/Swiss-Prot
      Q6UY01
      Related
      ENSP00000429145.1, ENST00000523069.1
      Conserved Domains (3) summary
      cd00116
      Location:91 → 349
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:116 → 143
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:89 → 115
      LRR_AMN1; leucine-rich repeat [structural motif]

    2. NM_001277128.2 → NP_001264057.1  leucine-rich repeat-containing protein 31 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC078795, AK026912, BC117401, DA425899
      Consensus CDS
      CCDS63832.1
      UniProtKB/Swiss-Prot
      Q6UY01
      Related
      ENSP00000264676.5, ENST00000264676.9
      Conserved Domains (2) summary
      cd00116
      Location:164 → 433
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:91 → 115
      LRR_RI; leucine-rich repeat [structural motif]

    3. NM_024727.4 → NP_079003.2  leucine-rich repeat-containing protein 31 isoform 1

      See identical proteins and their annotated locations for NP_079003.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC078795, AK026912, BC117401, DA425899
      Consensus CDS
      CCDS43167.1
      UniProtKB/Swiss-Prot
      B7ZL44, E5RJA9, Q17RA3, Q6UY01, Q8N848, Q9H5N5, V9HW14
      UniProtKB/TrEMBL
      A0A384N629
      Related
      ENSP00000325978.5, ENST00000316428.10
      Conserved Domains (2) summary
      sd00033
      Location:116 → 143
      LRR_RI; leucine-rich repeat [structural motif]
      cl26161
      Location:91 → 349
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

    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
      169839172..169869935 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513159.3 → XP_011511461.1  leucine-rich repeat-containing protein 31 isoform X2

      Conserved Domains (2) summary
      cd00116
      Location:135 → 407
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:116 → 143
      LRR_RI; leucine-rich repeat [structural motif]

    2. XM_011513158.3 → XP_011511460.1  leucine-rich repeat-containing protein 31 isoform X1

      Conserved Domains (2) summary
      cd00116
      Location:91 → 349
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:116 → 143
      LRR_RI; leucine-rich repeat [structural motif]

    3. XM_017007204.2 → XP_016862693.1  leucine-rich repeat-containing protein 31 isoform X3

    4. XM_011513160.4 → XP_011511462.1  leucine-rich repeat-containing protein 31 isoform X4

      See identical proteins and their annotated locations for XP_011511462.1

      UniProtKB/Swiss-Prot
      Q6UY01
      Conserved Domains (2) summary
      cd00116
      Location:91 → 335
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00034
      Location:89 → 115
      LRR_AMN1; leucine-rich repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      172623396..172654201 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347912.1 → XP_054203887.1  leucine-rich repeat-containing protein 31 isoform X2

    2. XM_054347911.1 → XP_054203886.1  leucine-rich repeat-containing protein 31 isoform X1

    3. XM_054347913.1 → XP_054203888.1  leucine-rich repeat-containing protein 31 isoform X3

    4. XM_054347914.1 → XP_054203889.1  leucine-rich repeat-containing protein 31 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UY01.1 GenPept UniProtKB/Swiss-Prot:Q6UY01

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