This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] See more...

Aliases for LRRC14 Gene

Aliases for LRRC14 Gene

  • Leucine Rich Repeat Containing 14 2 3 5
  • Leucine-Rich Repeat-Containing Protein 14 3 4
  • KIAA0014 2 4
  • LRRC14A 2 3
  • LRRC14 5

External Ids for LRRC14 Gene

Previous GeneCards Identifiers for LRRC14 Gene

  • GC08P145748
  • GC08P145714
  • GC08P140856
  • GC08P145743

Summaries for LRRC14 Gene

Entrez Gene Summary for LRRC14 Gene

  • This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

GeneCards Summary for LRRC14 Gene

LRRC14 (Leucine Rich Repeat Containing 14) is a Protein Coding gene. Diseases associated with LRRC14 include Holocarboxylase Synthetase Deficiency. An important paralog of this gene is LRRC14B.

UniProtKB/Swiss-Prot Summary for LRRC14 Gene

  • Negatively regulates Toll-like receptor-mediated NF-kappa-B signaling by disrupting IKK core complex formation through interaction with IKBKB.

Additional gene information for LRRC14 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRRC14 Gene

Genomics for LRRC14 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LRRC14 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRRC14 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRRC14

Top Transcription factor binding sites by QIAGEN in the LRRC14 gene promoter:
  • E47
  • MyoD
  • Olf-1
  • p53
  • Sp1

Genomic Locations for LRRC14 Gene

Genomic Locations for LRRC14 Gene
chr8:144,517,965-144,525,172
(GRCh38/hg38)
Size:
7,208 bases
Orientation:
Plus strand
chr8:145,743,363-145,750,562
(GRCh37/hg19)
Size:
7,200 bases
Orientation:
Plus strand

Genomic View for LRRC14 Gene

Genes around LRRC14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRC14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRC14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC14 Gene

Proteins for LRRC14 Gene

  • Protein details for LRRC14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15048-LRC14_HUMAN
    Recommended name:
    Leucine-rich repeat-containing protein 14
    Protein Accession:
    Q15048
    Secondary Accessions:
    • A8K0A8
    • D3DWM8

    Protein attributes for LRRC14 Gene

    Size:
    493 amino acids
    Molecular mass:
    54513 Da
    Quaternary structure:
    • Interacts with IKBKB; disrupts IKBKB-IKBKG interaction preventing I-kappa-B-kinase (IKK) core complex formation and leading to a decrease of IKBKB phosphorylation and NF-kappaB activation (PubMed:27426725). Interacts with CHUK (PubMed:27426725).
    SequenceCaution:
    • Sequence=BAA04946.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for LRRC14 Gene

Post-translational modifications for LRRC14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LRRC14 Gene

Domains & Families for LRRC14 Gene

Gene Families for LRRC14 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LRRC14 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LRRC14 Gene

GenScript: Design optimal peptide antigens:
  • Leucine-rich repeat-containing protein 14 (LRC14_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15048

UniProtKB/Swiss-Prot:

LRC14_HUMAN :
  • Belongs to the PRAME family. LRRC14 subfamily.
Family:
  • Belongs to the PRAME family. LRRC14 subfamily.
genes like me logo Genes that share domains with LRRC14: view

Function for LRRC14 Gene

Molecular function for LRRC14 Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates Toll-like receptor-mediated NF-kappa-B signaling by disrupting IKK core complex formation through interaction with IKBKB.
UniProtKB/Swiss-Prot Induction:
Down-regulated in response to toll-like receptor ligand.

Phenotypes From GWAS Catalog for LRRC14 Gene

Gene Ontology (GO) - Molecular Function for LRRC14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21145461
GO:0019900 kinase binding IBA,IPI 27426725
genes like me logo Genes that share ontologies with LRRC14: view
genes like me logo Genes that share phenotypes with LRRC14: view

Animal Model Products

  • Taconic Biosciences Mouse Models for LRRC14

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRRC14

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LRRC14 Gene

Localization for LRRC14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRRC14 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRRC14 gene
Compartment Confidence
plasma membrane 2
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LRRC14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 27426725
genes like me logo Genes that share ontologies with LRRC14: view

Pathways & Interactions for LRRC14 Gene

PathCards logo

SuperPathways for LRRC14 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRRC14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032088 negative regulation of NF-kappaB transcription factor activity IBA,IDA 27426725
GO:0034122 negative regulation of toll-like receptor signaling pathway IDA 27426725
genes like me logo Genes that share ontologies with LRRC14: view

No data available for Pathways by source and SIGNOR curated interactions for LRRC14 Gene

Drugs & Compounds for LRRC14 Gene

No Compound Related Data Available

Transcripts for LRRC14 Gene

mRNA/cDNA for LRRC14 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRRC14

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC14 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5
SP1:
SP2: - -
SP3: -

Relevant External Links for LRRC14 Gene

GeneLoc Exon Structure for
LRRC14

Expression for LRRC14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRRC14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LRRC14 Gene

This gene is overexpressed in Cervix (51.4) and Peripheral blood mononuclear cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LRRC14 Gene



Protein tissue co-expression partners for LRRC14 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRRC14

SOURCE GeneReport for Unigene cluster for LRRC14 Gene:

Hs.459391

Evidence on tissue expression from TISSUES for LRRC14 Gene

  • Nervous system(4.5)
  • Intestine(4.2)
  • Bone marrow(4.1)
genes like me logo Genes that share expression patterns with LRRC14: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRRC14 Gene

Orthologs for LRRC14 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRRC14 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LRRC14 30 31
  • 98.85 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LRRC14 30 31
  • 89.18 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LRRC14 30 31
  • 87.49 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lrrc14 30
  • 86.21 (n)
Mouse
(Mus musculus)
Mammalia Lrrc14 30 17 31
  • 85.19 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 58 (a)
OneToMany
-- 31
  • 57 (a)
OneToMany
-- 31
  • 49 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia LRRC14 31
  • 47 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100489989 30
  • 60.11 (n)
Zebrafish
(Danio rerio)
Actinopterygii CU695007.1 31
  • 27 (a)
ManyToMany
Species where no ortholog for LRRC14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for LRRC14 Gene

ENSEMBL:
Gene Tree for LRRC14 (if available)
TreeFam:
Gene Tree for LRRC14 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LRRC14: view image

Paralogs for LRRC14 Gene

(1) SIMAP similar genes for LRRC14 Gene using alignment to 4 proteins:

  • LRC14_HUMAN
  • E9PNL0_HUMAN
  • E9PP40_HUMAN
  • E9PRP5_HUMAN

Pseudogenes.org Pseudogenes for LRRC14 Gene

genes like me logo Genes that share paralogs with LRRC14: view

Variants for LRRC14 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRRC14 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs2721172 Benign: not specified 144,519,798(+) T/C SYNONYMOUS_VARIANT
rs3735854 - p.Gly437Asp

Additional dbSNP identifiers (rs#s) for LRRC14 Gene

Structural Variations from Database of Genomic Variants (DGV) for LRRC14 Gene

Variant ID Type Subtype PubMed ID
dgv1207n67 CNV gain 20364138
dgv12439n54 CNV loss 21841781
dgv12443n54 CNV loss 21841781
dgv907n27 CNV loss 19166990
esv2738067 CNV deletion 23290073
esv29999 CNV loss 17803354
esv3619131 CNV gain 21293372
nsv428208 CNV gain 18775914
nsv470249 CNV loss 18288195
nsv482127 CNV gain 20164927
nsv515809 CNV gain+loss 19592680
nsv522459 CNV loss 19592680
nsv612940 CNV loss 21841781
nsv612951 CNV loss 21841781
nsv831489 CNV loss 17160897

Variation tolerance for LRRC14 Gene

Residual Variation Intolerance Score: 7.92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.00; 20.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRRC14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRRC14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC14 Gene

Disorders for LRRC14 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LRRC14 Gene - From: DISEASES

Disorder Aliases PubMed IDs
holocarboxylase synthetase deficiency
  • hlcs deficiency
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LRRC14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LRRC14 Gene

Publications for LRRC14 Gene

  1. 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. (PMID: 7584026) Nomura N … Tabata S (DNA research : an international journal for rapid publication of reports on genes and genomes 1994) 2 3 4
  2. LRRC14 attenuates Toll-like receptor-mediated NF-κB signaling through disruption of IKK complex. (PMID: 27426725) Wu C … Cui J (Experimental cell research 2016) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. (PMID: 25201988) Rietveld CA … Koellinger PD (Proceedings of the National Academy of Sciences of the United States of America 2014) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for LRRC14 Gene

Sources for LRRC14 Gene