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Aliases for PLLP Gene

Aliases for PLLP Gene

  • Plasmolipin 2 3 4 5
  • Transmembrane 4 Superfamily Member 11 (Plasmolipin) 2 3
  • Plasma Membrane Proteolipid (Plasmolipin) 2 3
  • Plasma Membrane Proteolipid 2 4
  • TM4SF11 3 4
  • PMLP 3 4

External Ids for PLLP Gene

Previous HGNC Symbols for PLLP Gene

  • TM4SF11

Previous GeneCards Identifiers for PLLP Gene

  • GC00U921623
  • GC16M055848
  • GC16M043159

Summaries for PLLP Gene

GeneCards Summary for PLLP Gene

PLLP (Plasmolipin) is a Protein Coding gene. Diseases associated with PLLP include Bardet-Biedl Syndrome. An important paralog of this gene is CMTM8.

UniProtKB/Swiss-Prot for PLLP Gene

  • Appears to be involved in myelination. Could also participate in ion transport events as addition of plasmolipin to lipid bilayers induces the formation of ion channels, which are voltage-dependent and K(+)-selective (By similarity).

Additional gene information for PLLP Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLLP Gene

Genomics for PLLP Gene

GeneHancer (GH) Regulatory Elements for PLLP Gene

Promoters and enhancers for PLLP 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
GH16J057281 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 621.4 +1.0 1039 3.5 HDGF ZNF652 ZFX NKRF POLR2A CEBPG RERE GTF2F1 ZNF687 AHR PLLP RSPRY1 ENSG00000260927 POLR2C NUP93 NUDT21 CSNK2A2 FAM192A ENSG00000260038
GH16J057287 Enhancer 0.2 Ensembl 600.7 -1.9 -1929 0.4 PLLP TRL-CAG2-1
GH16J057261 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 23.5 +17.2 17187 11 ZFX ZKSCAN8 CBFA2T2 CEBPG SP5 KLF14 ZNF384 ZNF639 SMARCA4 MTA1 PLLP FAM192A ENSG00000260038
GH16J057244 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 18.4 +39.3 39330 2.5 SP1 ZFX MNT NKRF POLR2A RERE GTF2F1 ZNF687 AHR SP7 ENSG00000276663 ARL2BP RSPRY1 PLLP CSNK2A2 FAM192A CCDC102A ENSG00000260927 POLR2C
GH16J057184 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 16.2 +98.0 98006 4.9 ZFX SP1 ELF3 CBFA2T2 NKRF POLR2A MLLT1 GTF2F1 ZNF384 ZSCAN21 RSPRY1 FAM192A NUP93 PLLP NUDT21 ARL2BP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLLP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLLP gene promoter:
  • FOXO4
  • HOXA9
  • HOXA9B
  • Lmo2
  • Meis-1
  • Meis-1b
  • NF-kappaB
  • NF-kappaB1
  • Pbx1a
  • ZIC2

Genomic Locations for PLLP Gene

Genomic Locations for PLLP Gene
chr16:57,248,547-57,284,672
(GRCh38/hg38)
Size:
36,126 bases
Orientation:
Minus strand
chr16:57,290,004-57,318,599
(GRCh37/hg19)
Size:
28,596 bases
Orientation:
Minus strand

Genomic View for PLLP Gene

Genes around PLLP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PLLP Gene

Proteins for PLLP Gene

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

    Protein Symbol:
    Q9Y342-PLLP_HUMAN
    Recommended name:
    Plasmolipin
    Protein Accession:
    Q9Y342
    Secondary Accessions:
    • B2R9T6

    Protein attributes for PLLP Gene

    Size:
    182 amino acids
    Molecular mass:
    19987 Da
    Quaternary structure:
    • Hexamer arranged as a trimer of two plasmolipin subunits.

neXtProt entry for PLLP Gene

Post-translational modifications for PLLP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLLP Gene

No data available for DME Specific Peptides for PLLP Gene

Domains & Families for PLLP Gene

Gene Families for PLLP Gene

Protein Domains for PLLP Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PLLP Gene

GenScript: Design optimal peptide antigens:
  • Plasma membrane proteolipid (PLLP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y342

UniProtKB/Swiss-Prot:

PLLP_HUMAN :
  • Belongs to the MAL family.
Family:
  • Belongs to the MAL family.
genes like me logo Genes that share domains with PLLP: view

Function for PLLP Gene

Molecular function for PLLP Gene

UniProtKB/Swiss-Prot Function:
Appears to be involved in myelination. Could also participate in ion transport events as addition of plasmolipin to lipid bilayers induces the formation of ion channels, which are voltage-dependent and K(+)-selective (By similarity).

Phenotypes From GWAS Catalog for PLLP Gene

Gene Ontology (GO) - Molecular Function for PLLP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0019911 structural constituent of myelin sheath IBA 21873635
genes like me logo Genes that share ontologies with PLLP: view
genes like me logo Genes that share phenotypes with PLLP: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for PLLP - Now 50% OFF >
  • * PLLP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PLLP tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

Localization for PLLP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLLP Gene

Membrane; Multi-pass membrane protein.

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 PLLP gene
Compartment Confidence
plasma membrane 3
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PLLP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IBA 21873635
GO:0043218 compact myelin IEA --
GO:0045121 membrane raft IEA --
genes like me logo Genes that share ontologies with PLLP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLLP Gene

Pathways & Interactions for PLLP Gene

PathCards logo

SuperPathways for PLLP Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLLP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0009611 response to wounding IEA --
GO:0042552 myelination IBA 21873635
genes like me logo Genes that share ontologies with PLLP: view

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

Drugs & Compounds for PLLP Gene

No Compound Related Data Available

Transcripts for PLLP Gene

mRNA/cDNA for PLLP Gene

Unigene Clusters for PLLP Gene

Plasmolipin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for PLLP - Now 50% OFF >
  • * PLLP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PLLP tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

No ASD Table

Relevant External Links for PLLP Gene

GeneLoc Exon Structure for
PLLP
ECgene alternative splicing isoforms for
PLLP

Expression for PLLP Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLLP Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.4) and Nerve - Tibial (x4.1).

Protein differential expression in normal tissues from HIPED for PLLP Gene

This gene is overexpressed in Nasal epithelium (31.4), Spinal cord (21.5), and Frontal cortex (7.4).

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



NURSA nuclear receptor signaling pathways regulating expression of PLLP Gene:

PLLP

SOURCE GeneReport for Unigene cluster for PLLP Gene:

Hs.632215

Evidence on tissue expression from TISSUES for PLLP Gene

  • Nervous system(4.8)
  • Kidney(4.4)
genes like me logo Genes that share expression patterns with PLLP: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLLP Gene

Orthologs for PLLP Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLLP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLLP 35 34
  • 99.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLLP 35 34
  • 90.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLLP 35 34
  • 88.1 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pllp 17 35 34
  • 86.63 (n)
rat
(Rattus norvegicus)
Mammalia Pllp 34
  • 84.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PLLP 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLLP 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLLP 35 34
  • 67.81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLLP 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493581 34
  • 59.85 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-73n10.4 34
  • 50.49 (n)
PLLP 35
  • 45 (a)
OneToOne
Species where no ortholog for PLLP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 PLLP Gene

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

Paralogs for PLLP Gene

(2) SIMAP similar genes for PLLP Gene using alignment to 3 proteins:

  • PLLP_HUMAN
  • H3BN27_HUMAN
  • J3QLJ3_HUMAN

Pseudogenes.org Pseudogenes for PLLP Gene

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

Variants for PLLP Gene

Sequence variations from dbSNP and Humsavar for PLLP Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000300522 -- 57,264,602(-) G/T intron_variant
rs1000385627 -- 57,276,175(-) G/C intron_variant
rs1000631151 -- 57,264,320(-) G/T intron_variant
rs1000705312 -- 57,286,252(-) C/G/T upstream_transcript_variant
rs1000966691 -- 57,274,673(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
nsv509621 CNV insertion 20534489

Variation tolerance for PLLP Gene

Residual Variation Intolerance Score: 53.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 15.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLLP Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PLLP Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLLP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bardet-biedl syndrome
  • biedl-bardet syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PLLP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PLLP

genes like me logo Genes that share disorders with PLLP: view

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

Publications for PLLP Gene

  1. Plasmolipin: genomic structure, chromosomal localization, protein expression pattern, and putative association with Bardet-Biedl syndrome. (PMID: 11707781) Hamacher M … Bosse F (Mammalian genome : official journal of the International Mammalian Genome Society 2001) 2 3 23 58
  2. 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 58
  3. Molecular cloning of plasmolipin. Characterization of a novel proteolipid restricted to brain and kidney. (PMID: 7929173) Fischer I … Sapirstein VS (The Journal of biological chemistry 1994) 3 23 58
  4. The myelin proteolipid plasmolipin forms oligomers and induces liquid-ordered membranes in the Golgi complex. (PMID: 26002055) Yaffe Y … Hirschberg K (Journal of cell science 2015) 3 58
  5. Systematic identification of pathological lamin A interactors. (PMID: 24623722) Dittmer TA … Misteli T (Molecular biology of the cell 2014) 3 58

Products for PLLP Gene

Sources for PLLP Gene

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