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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 , 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
- Elite enhancer/Elite enhancer-gene association

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

ENSRs around PLLP on UCSC Golden Path with GeneCards custom track

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 :
  • Contains 1 MARVEL domain.
  • Belongs to the MAL family.
Domain:
  • Contains 1 MARVEL domain.
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
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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
Jensen Localization Image for PLLP Gene 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:0016021 integral component of membrane IEA --
GO:0043218 compact myelin IEA --
GO:0045121 membrane raft IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PLLP: view

Pathways & Interactions for PLLP Gene

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 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with PLLP: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia PLLP 34
  • 88.1 (n)
  • 87.36 (a)
PLLP 35
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLLP 34
  • 90.66 (n)
  • 93.37 (a)
PLLP 35
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pllp 34
  • 86.63 (n)
  • 90.11 (a)
Pllp 16
Pllp 35
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PLLP 34
  • 99.45 (n)
  • 99.45 (a)
PLLP 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pllp 34
  • 84.98 (n)
  • 88.46 (a)
oppossum
(Monodelphis domestica)
Mammalia PLLP 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLLP 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLLP 34
  • 67.81 (n)
  • 64.57 (a)
PLLP 35
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLLP 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493581 34
  • 59.85 (n)
  • 55.11 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-73n10.4 34
  • 50.49 (n)
  • 46.2 (a)
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
rs3751707 -- 57,256,876(-) AAGCC(A/G)CCGCT utr-variant-3-prime
rs3794642 -- 57,261,074(-) GGAGG(C/T)GGAGA intron-variant
rs3838868 -- 57,261,150(-) TTAGC(-/AAAATACAACAATTAGC)CAGGT intron-variant
rs4275845 -- 57,277,698(+) TTGCC(A/C/G)TGGGG intron-variant
rs4293366 -- 57,277,900(+) ACTAT(C/T)TGAGT 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
  • laurence-moon 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 65
  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 65
  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 65
  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 65
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 65

Products for PLLP Gene

Sources for PLLP Gene

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