PLLP plasmolipin [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLLPprovided by HGNC
Official Full Name: plasmolipinprovided by HGNC
Primary source: HGNC:HGNC:18553
See related: Ensembl:ENSG00000102934 MIM:600340; AllianceGenome:HGNC:18553
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PMLP; TM4SF11
Summary: Enables identical protein binding activity. Predicted to be involved in myelination. Located in myelin sheath and plasma membrane. Biomarker of schizophrenia. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in brain (RPKM 41.3), stomach (RPKM 28.7) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q13

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (57256097..57284672, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (63052086..63080643, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (57290009..57318584, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structure of the Myelin Sheath Proteolipid Plasmolipin (PLLP) in a Ganglioside-Containing Lipid Raft.
Title: Structure of the Myelin Sheath Proteolipid Plasmolipin (PLLP) in a Ganglioside-Containing Lipid Raft.
Integrative omics analysis identifies biomarkers of idiopathic pulmonary fibrosis.
Title: Integrative omics analysis identifies biomarkers of idiopathic pulmonary fibrosis.
These data support a model in which PLLP functions in myelin biogenesis through organization of myelin liquid-ordered membranes in the Golgi complex.
Title: The myelin proteolipid plasmolipin forms oligomers and induces liquid-ordered membranes in the Golgi complex.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of sleep habits and insomnia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S3008 (e-PCR)
- UniSTS:154120

G06198 (e-PCR)
- UniSTS:2728

RH91141 (e-PCR)
- UniSTS:83897

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of myelin sheath	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in myelin assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in myelination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcytosis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in compact myelin	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in myelin sheath	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: plasmolipin

Names: plasma membrane proteolipid (plasmolipin); transmembrane 4 superfamily member 11 (plasmolipin)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.