Aliases for LLPH Gene

Aliases for LLPH Gene

  • LLP Homolog, Long-Term Synaptic Facilitation Factor 2 3 5
  • LLP Homolog, Long-Term Synaptic Facilitation (Aplysia) 2 3
  • Human LAPS18-Like Protein 2 3
  • Protein LLP Homolog 3 4
  • C12orf31 3 4
  • Chromosome 12 Open Reading Frame 31 2
  • Protein LAPS18-Like 4
  • CPERP-G 4
  • HLLP 3

External Ids for LLPH Gene

Previous HGNC Symbols for LLPH Gene

  • C12orf31

Previous GeneCards Identifiers for LLPH Gene

  • GC12M064805
  • GC12M066516
  • GC12M063569

Summaries for LLPH Gene

GeneCards Summary for LLPH Gene

LLPH (LLP Homolog, Long-Term Synaptic Facilitation Factor) is a Protein Coding gene.

UniProtKB/Swiss-Prot Summary for LLPH Gene

  • In hippocampal neurons, regulates dendritic and spine growth and synaptic transmission.

Additional gene information for LLPH Gene

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

Genomics for LLPH Gene

GeneHancer (GH) Regulatory Elements for LLPH Gene

Promoters and enhancers for LLPH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J066129 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -0.4 -446 4 ZBTB40 ZNF217 SIN3A POLR2G PHF8 POLR2A CLOCK ZBTB11 GABPA SAP30 LLPH-DT LLPH IRAK3 HELB TMBIM4 piR-52438-028 ENSG00000228144
GH12J066128 Promoter 0.3 EPDnew 500.7 +1.7 1736 0.1 LLPH LLPH-DT ENSG00000228144 RNA5SP362
GH12J066186 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 -58.8 -58844 5.2 ZBTB40 USF1 RELA POLR2A BCL11A KLF9 USF2 PHF8 CHD1 NBN IRAK3 lnc-TMBIM4-5 LLPH-DT HELB LLPH ENSG00000256072 TMBIM4 RF00017-1174
GH12J066234 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 -104.6 -104648 2 CTCF ZNF10 ZBTB26 CTBP1 POLR2A OSR2 SIN3A SP2 CREB3L1 ZNF263 RBMS1P1 IRAK3 TMBIM4 ENSG00000228144 HELB ENSG00000256072 LLPH LLPH-DT MIR6502
GH12J066107 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 12.6 +22.4 22410 2.7 EP300 CTCF REST RAD21 TRIM22 TEAD1 SMC3 ZNF266 CEBPB ZBTB17 LLPH-DT LLPH HMGA2 RPSAP52 LEMD3 HMGA2-AS1 TMBIM4 RNA5SP362
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LLPH on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the LLPH gene promoter:
  • AML1a
  • E2F
  • E2F-1
  • E47
  • FOXI1
  • FOXJ2
  • FOXJ2 (long isoform)
  • HFH-3
  • SEF-1 (1)
  • Sox5

Genomic Locations for LLPH Gene

Genomic Locations for LLPH Gene
chr12:66,116,555-66,130,753
(GRCh38/hg38)
Size:
14,199 bases
Orientation:
Minus strand
chr12:66,516,842-66,524,548
(GRCh37/hg19)
Size:
7,707 bases
Orientation:
Minus strand

Genomic View for LLPH Gene

Genes around LLPH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for LLPH Gene

Proteins for LLPH Gene

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

    Protein Symbol:
    Q9BRT6-LLPH_HUMAN
    Recommended name:
    Protein LLP homolog
    Protein Accession:
    Q9BRT6
    Secondary Accessions:
    • Q3B766

    Protein attributes for LLPH Gene

    Size:
    129 amino acids
    Molecular mass:
    15225 Da
    Quaternary structure:
    • Interacts with CTCF, MYO1C and with the transcriptional machinery, including RNA polymerase II and TBP.

neXtProt entry for LLPH Gene

Post-translational modifications for LLPH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LLPH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LLPH Gene

Domains & Families for LLPH Gene

Gene Families for LLPH Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LLPH Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LLPH Gene

GenScript: Design optimal peptide antigens:
  • Protein LAPS18-like (LLPH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BRT6

UniProtKB/Swiss-Prot:

LLPH_HUMAN :
  • Belongs to the learning-associated protein family.
Family:
  • Belongs to the learning-associated protein family.
genes like me logo Genes that share domains with LLPH: view

Function for LLPH Gene

Molecular function for LLPH Gene

UniProtKB/Swiss-Prot Function:
In hippocampal neurons, regulates dendritic and spine growth and synaptic transmission.

Phenotypes From GWAS Catalog for LLPH Gene

Gene Ontology (GO) - Molecular Function for LLPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001099 basal RNA polymerase II transcription machinery binding ISS --
GO:0003723 RNA binding HDA 22658674
genes like me logo Genes that share ontologies with LLPH: view
genes like me logo Genes that share phenotypes with LLPH: view

Animal Model Products

CRISPR Products

miRNA for LLPH Gene

miRTarBase miRNAs that target LLPH

Inhibitory RNA Products

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

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

Localization for LLPH Gene

Subcellular locations from UniProtKB/Swiss-Prot for LLPH Gene

Nucleus, nucleolus. Chromosome. Note=Cell-permeable protein. 22 hours after injection in the hippocampal area CA1, internalized by most cells at the injection site (By similarity). Localizes at the chromosome periphery during mitosis (PubMed:20813266). {ECO:0000250 UniProtKB:Q9D945, ECO:0000269 PubMed:20813266}.

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 LLPH gene
Compartment Confidence
nucleus 4
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LLPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005694 chromosome IEA,IDA 20813266
GO:0005730 nucleolus IBA,IDA --
genes like me logo Genes that share ontologies with LLPH: view

Pathways & Interactions for LLPH Gene

PathCards logo

SuperPathways for LLPH Gene

No Data Available

Gene Ontology (GO) - Biological Process for LLPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0060999 positive regulation of dendritic spine development ISS --
GO:0097484 dendrite extension ISS,IBA --
genes like me logo Genes that share ontologies with LLPH: view

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

Drugs & Compounds for LLPH Gene

No Compound Related Data Available

Transcripts for LLPH Gene

mRNA/cDNA for LLPH Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 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 LLPH

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

No ASD Table

Relevant External Links for LLPH Gene

GeneLoc Exon Structure for
LLPH

Expression for LLPH Gene

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

Protein differential expression in normal tissues from HIPED for LLPH Gene

This gene is overexpressed in Lung (18.6), Tlymphocyte (12.0), and Pancreas (12.0).

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



Protein tissue co-expression partners for LLPH Gene

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

SOURCE GeneReport for Unigene cluster for LLPH Gene:

Hs.504820

Evidence on tissue expression from TISSUES for LLPH Gene

  • Kidney(4.4)
  • Nervous system(4.4)
  • Muscle(4.3)
  • Heart(2.2)
  • Liver(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with LLPH: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LLPH Gene

Orthologs for LLPH Gene

This gene was present in the common ancestor of chordates.

Orthologs for LLPH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LLPH 31 30
  • 99.74 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LLPH 31 30
  • 91.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC100682952 30
  • 89.24 (n)
LLPH 31
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Llph 30
  • 86.83 (n)
mouse
(Mus musculus)
Mammalia Llph 31 30
  • 83.6 (n)
OneToOne
Llph-ps2 17
platypus
(Ornithorhynchus anatinus)
Mammalia LLPH 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves LLPH 31 30
  • 68.13 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LLPH 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia llph 30
  • 64.5 (n)
Str.6937 30
African clawed frog
(Xenopus laevis)
Amphibia MGC53320 30
zebrafish
(Danio rerio)
Actinopterygii zgc:123180 30
  • 61.43 (n)
LLPH 31
  • 60 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8965 30
Species where no ortholog for LLPH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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 LLPH Gene

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

Paralogs for LLPH Gene

Pseudogenes.org Pseudogenes for LLPH Gene

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

No data available for Paralogs for LLPH Gene

Variants for LLPH Gene

Additional dbSNP identifiers (rs#s) for LLPH Gene

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

Variant ID Type Subtype PubMed ID
esv3629795 CNV loss 21293372
esv3629796 CNV loss 21293372

Variation tolerance for LLPH Gene

Residual Variation Intolerance Score: 48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.35; 63.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LLPH Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LLPH Gene

Disorders for LLPH Gene

Additional Disease Information for LLPH

No disorders were found for LLPH Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LLPH Gene

Publications for LLPH Gene

  1. A transducible nuclear/nucleolar protein, mLLP, regulates neuronal morphogenesis and synaptic transmission. (PMID: 26961175) Yu NK … Kaang BK (Scientific reports 2016) 2 3 54
  2. The protein composition of mitotic chromosomes determined using multiclassifier combinatorial proteomics. (PMID: 20813266) Ohta S … Rappsilber J (Cell 2010) 3 4 54
  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 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. (PMID: 30575818) Tiemann K … Kani K (Oncogene 2019) 3 54

Products for LLPH Gene

Sources for LLPH Gene