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

    Gene ID: 9684, updated on 28-Oct-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
    mouse all
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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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    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
    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

    Gene LinkOut

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