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Aliases for PLLP Gene

Aliases for PLLP Gene

  • Plasmolipin 2 3 3 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).

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

Regulatory Elements for PLLP Gene

Enhancers for PLLP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G057261 2 FANTOM5 Ensembl ENCODE dbSUPER 23.5 +17.3 17328 10.8 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 PLLP FAM192A POLR2C ENSG00000272372 LOC101927556 ENSG00000260038
GH16G057281 1.6 Ensembl ENCODE dbSUPER 21.4 +1.2 1176 3.3 HDGF HNRNPUL1 MLX CREB3L1 ZFP64 ARID4B SIN3A SLC30A9 ZNF143 FOS RSPRY1 PLLP LOC101927556 POLR2C CSNK2A2 FAM192A ENSG00000260038
GH16G057190 1.2 Ensembl ENCODE 25.6 +91.4 91443 5.5 FOXA2 ARID4B FEZF1 YY1 SLC30A9 FOS SP5 MXD4 MIER2 PPARG PLLP FAM192A ARL2BP
GH16G057251 1 ENCODE dbSUPER 28 +31.5 31506 3.1 CBX3 SAP130 TAF1 CEBPG YY1 ZNF664 CBX5 ZNF26 EZH2 ZNF3 PLLP RSPRY1 LOC101927556 ENSG00000260038
GH16G057244 1.4 ENCODE dbSUPER 18.4 +39.4 39449 2.3 PKNOX1 FOXA2 CREB3L1 MLX ARNT WRNIP1 ZFP64 SIN3A ARID4B DMAP1 PLLP RSPRY1 FAM192A ARL2BP ENSG00000276663
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLLP on UCSC Golden Path with GeneCards custom track

Promoters for PLLP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000086406 -113 801 HDGF HNRNPUL1 MLX CREB3L1 ZFP64 ARID4B SIN3A SLC30A9 ZNF143 KLF13

Genomic Location for PLLP Gene

Chromosome:
16
Start:
57,248,547 bp from pter
End:
57,284,687 bp from pter
Size:
36,141 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

Protein Domains for PLLP Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PLLP Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for PLLP Gene

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).

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 --
genes like me logo Genes that share ontologies with PLLP: view

Phenotypes for PLLP Gene

GenomeRNAi human phenotypes for PLLP:
genes like me logo Genes that share phenotypes with PLLP: view

Animal Model Products

Inhibitory RNA Products

Clone Products

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
extracellular 5
plasma membrane 4

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 IBA,IEA --
GO:0043218 compact myelin IEA --
GO:0045121 membrane raft IBA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PLLP: view

Pathways & Interactions for PLLP Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLLP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001766 membrane raft polarization IBA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0008104 protein localization IBA --
GO:0009611 response to wounding IEA --
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

Unigene Clusters for PLLP Gene

Plasmolipin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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, PaxDb, 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

Primer Products

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 34 35
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia PLLP 34 35
  • 90.66 (n)
cow
(Bos Taurus)
Mammalia PLLP 34 35
  • 88.1 (n)
mouse
(Mus musculus)
Mammalia Pllp 34 16 35
  • 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 34 35
  • 67.81 (n)
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)

Paralogs for PLLP Gene

Paralogs for PLLP Gene

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

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 Sequence Context AA Info Type
rs1000300522 -- 57,264,602(+) CATTT(G/T)GGGAG intron-variant
rs1000385627 -- 57,276,175(+) AAATA(C/G)GCTAG intron-variant
rs1000631151 -- 57,264,320(+) GTGGG(G/T)CCTCG intron-variant
rs1000705312 -- 57,286,252(+) GCACT(C/T)CAGCC upstream-variant-2KB
rs1000966691 -- 57,274,673(+) GTCTC(A/G)AGCTC 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)

Relevant External Links for PLLP Gene

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

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

Relevant External Links for PLLP

Genetic Association Database (GAD)
PLLP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Mamm. Genome 2001) 2 3 22 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Molecular cloning of plasmolipin. Characterization of a novel proteolipid restricted to brain and kidney. (PMID: 7929173) Fischer I. … Sapirstein V.S. (J. Biol. Chem. 1994) 3 22 64
  4. The myelin proteolipid plasmolipin forms oligomers and induces liquid-ordered membranes in the Golgi complex. (PMID: 26002055) Yaffe Y. … Hirschberg K. (J. Cell. Sci. 2015) 3 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for PLLP Gene

Sources for PLLP Gene

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