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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
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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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