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LRRC14 leucine rich repeat containing 14 [ Homo sapiens (human) ]

Gene ID: 9684, updated on 2-Nov-2024

Summary

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Official Symbol
LRRC14provided by HGNC
Official Full Name
leucine rich repeat containing 14provided by HGNC
Primary source
HGNC:HGNC:20419
See related
Ensembl:ENSG00000160959 MIM:619368; AllianceGenome:HGNC:20419
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
LRRC14A
Summary
This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Expression
Ubiquitous expression in prostate (RPKM 7.1), brain (RPKM 5.8) and 25 other tissues See more
Orthologs
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Genomic context

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See LRRC14 in Genome Data Viewer
Location:
8q24.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144517992..144525178)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145688176..145695358)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145743376..145750556)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145735245-145735868 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145746055-145746717 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145747722-145747910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19702 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145749372-145750034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145750035-145750697 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145751430-145752286 Neighboring gene RecQ like helicase 4 Neighboring gene major facilitator superfamily domain containing 3 Neighboring gene Sharpr-MPRA regulatory region 11949 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19707 Neighboring gene leucine rich repeat containing 24 Neighboring gene chromosome 8 open reading frame 82 Neighboring gene Rho GTPase activating protein 39 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:145795054-145796253 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145816391-145816972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145816973-145817554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145879634-145880145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145880146-145880656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145899251-145899750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145909098-145909710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145909711-145910323 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145910937-145911548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145912735-145913607 Neighboring gene Sharpr-MPRA regulatory region 12231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145918540-145919362

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 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. LRRC14 attenuates Toll-like receptor-mediated NF-κB signaling through disruption of IKK complex. Wu C, et al. Exp Cell Res, 2016 Sep 10. PMID 27426725
  2. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. Nomura N, et al. DNA Res, 1994. PMID 7584026
  3. An interaction network of the mammalian COP9 signalosome identifies Dda1 as a core subunit of multiple Cul4-based E3 ligases. Olma MH, et al. J Cell Sci, 2009 Apr 1. PMID 19295130, Free PMC Article
  4. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. Rietveld CA, et al. Proc Natl Acad Sci U S A, 2014 Sep 23. PMID 25201988, Free PMC Article
  5. IKK-Mediated Regulation of the COP9 Signalosome via Phosphorylation of CSN5. Zhang J, et al. J Proteome Res, 2020 Mar 6. PMID 31950832, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TLR signaling led to lower expression of LRRC14.
    Title: LRRC14 attenuates Toll-like receptor-mediated NF-κB signaling through disruption of IKK complex.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
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)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of leucine rich repeat containing 14 (LRRC14) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0014

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of toll-like receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of toll-like receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
leucine-rich repeat-containing protein 14

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.

Genomic

  1. NG_033083.2 RefSeqGene

    Range
    5002..12182
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001272036.2 → NP_001258965.1  leucine-rich repeat-containing protein 14

    See identical proteins and their annotated locations for NP_001258965.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC084125, BC011377, BU634522
    Consensus CDS
    CCDS6432.1
    UniProtKB/Swiss-Prot
    A8K0A8, D3DWM8, Q15048
    Related
    ENSP00000434768.1, ENST00000529022.5
    Conserved Domains (2) summary
    sd00033
    Location:286 → 309
    LRR_RI; leucine-rich repeat [structural motif]
    cl26161
    Location:221 → 413
    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 ...

  2. NM_014665.4 → NP_055480.1  leucine-rich repeat-containing protein 14

    See identical proteins and their annotated locations for NP_055480.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC084125, BU634522, D25216
    Consensus CDS
    CCDS6432.1
    UniProtKB/Swiss-Prot
    A8K0A8, D3DWM8, Q15048
    Related
    ENSP00000292524.1, ENST00000292524.6
    Conserved Domains (2) summary
    sd00033
    Location:286 → 309
    LRR_RI; leucine-rich repeat [structural motif]
    cl26161
    Location:221 → 413
    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    144517992..144525178
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447336.2 → XP_024303104.1  leucine-rich repeat-containing protein 14 isoform X1

    UniProtKB/Swiss-Prot
    A8K0A8, D3DWM8, Q15048
    Conserved Domains (2) summary
    sd00033
    Location:286 → 309
    LRR_RI; leucine-rich repeat [structural motif]
    cl26161
    Location:221 → 413
    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 ...

  2. XM_024447337.2 → XP_024303105.1  leucine-rich repeat-containing protein 14 isoform X2

    Conserved Domains (2) summary
    sd00033
    Location:247 → 270
    LRR_RI; leucine-rich repeat [structural motif]
    cl26161
    Location:182 → 374
    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 ...

  3. XM_005272359.6 → XP_005272416.1  leucine-rich repeat-containing protein 14 isoform X1

    See identical proteins and their annotated locations for XP_005272416.1

    UniProtKB/Swiss-Prot
    A8K0A8, D3DWM8, Q15048
    Conserved Domains (2) summary
    sd00033
    Location:286 → 309
    LRR_RI; leucine-rich repeat [structural motif]
    cl26161
    Location:221 → 413
    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 ...

  4. XM_017014005.3 → XP_016869494.1  leucine-rich repeat-containing protein 14 isoform X2

    Conserved Domains (2) summary
    sd00033
    Location:247 → 270
    LRR_RI; leucine-rich repeat [structural motif]
    cl26161
    Location:182 → 374
    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 ...

  5. XM_005272358.6 → XP_005272415.1  leucine-rich repeat-containing protein 14 isoform X1

    See identical proteins and their annotated locations for XP_005272415.1

    UniProtKB/Swiss-Prot
    A8K0A8, D3DWM8, Q15048
    Conserved Domains (2) summary
    sd00033
    Location:286 → 309
    LRR_RI; leucine-rich repeat [structural motif]
    cl26161
    Location:221 → 413
    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 ...

RNA

  1. XR_007060777.1 RNA Sequence

  2. XR_007060765.1 RNA Sequence

  3. XR_007060766.1 RNA Sequence

  4. XR_007060769.1 RNA Sequence

  5. XR_007060776.1 RNA Sequence

  6. XR_007060768.1 RNA Sequence

  7. XR_007060771.1 RNA Sequence

  8. XR_007060774.1 RNA Sequence

  9. XR_007060767.1 RNA Sequence

  10. XR_007060770.1 RNA Sequence

  11. XR_007060772.1 RNA Sequence

  12. XR_007060773.1 RNA Sequence

  13. XR_007060775.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    145688176..145695358
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361566.1 → XP_054217541.1  leucine-rich repeat-containing protein 14 isoform X1

    UniProtKB/Swiss-Prot
    A8K0A8, D3DWM8, Q15048

  2. XM_054361569.1 → XP_054217544.1  leucine-rich repeat-containing protein 14 isoform X2

  3. XM_054361565.1 → XP_054217540.1  leucine-rich repeat-containing protein 14 isoform X1

    UniProtKB/Swiss-Prot
    A8K0A8, D3DWM8, Q15048

  4. XM_054361568.1 → XP_054217543.1  leucine-rich repeat-containing protein 14 isoform X2

  5. XM_054361567.1 → XP_054217542.1  leucine-rich repeat-containing protein 14 isoform X1

    UniProtKB/Swiss-Prot
    A8K0A8, D3DWM8, Q15048

RNA

  1. XR_008487898.1 RNA Sequence

  2. XR_008487899.1 RNA Sequence

  3. XR_008487902.1 RNA Sequence

  4. XR_008487909.1 RNA Sequence

  5. XR_008487901.1 RNA Sequence

  6. XR_008487904.1 RNA Sequence

  7. XR_008487907.1 RNA Sequence

  8. XR_008487900.1 RNA Sequence

  9. XR_008487903.1 RNA Sequence

  10. XR_008487905.1 RNA Sequence

  11. XR_008487906.1 RNA Sequence

  12. XR_008487908.1 RNA Sequence

  13. XR_008487911.1 RNA Sequence

  14. XR_008487910.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15048.1 GenPept UniProtKB/Swiss-Prot:Q15048

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