RFTN1 raftlin, lipid raft linker 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RFTN1provided by HGNC
Official Full Name: raftlin, lipid raft linker 1provided by HGNC
Primary source: HGNC:HGNC:30278
See related: Ensembl:ENSG00000131378 MIM:618210; AllianceGenome:HGNC:30278
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: MIG2; PIG9; PIB10; RAFTLIN
Summary: Enables double-stranded RNA binding activity. Involved in B cell receptor signaling pathway; membrane raft assembly; and positive regulation of growth rate. Acts upstream of or within dsRNA transport; response to exogenous dsRNA; and toll-like receptor 3 signaling pathway. Located in endosome; membrane raft; and plasma membrane. Part of protein-containing complex. Biomarker of glaucoma. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in lymph node (RPKM 35.0), fat (RPKM 23.7) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p24.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (16315845..16513699, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (16317057..16514836, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (16357352..16555206, complement)

Chromosome 3 - NC_000003.12 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?

Association between raftlin and presepsin levels with periodontal healthy and disease conditions.
Title: Association between raftlin and presepsin levels with periodontal healthy and disease conditions.
Raftlin and 8-iso-prostaglandin F2alpha levels and gene network analysis in patients with Modic changes.
Title: Raftlin and 8-iso-prostaglandin F2α levels and gene network analysis in patients with Modic changes.
Serum NOX1 and Raftlin as new potential biomarkers of Major Depressive Disorder: A study in treatment-naive first episode patients.
Title: Serum NOX1 and Raftlin as new potential biomarkers of Major Depressive Disorder: A study in treatment-naive first episode patients.
Expression of Major Lipid Raft Protein Raftlin in Chronic Rhinosinusitis with Nasal Polyps in Smoking and Non-Smoking Patients Correlated with Interleukin-17 and Tumor Necrosis Factor-alpha Levels.
Title: Expression of Major Lipid Raft Protein Raftlin in Chronic Rhinosinusitis with Nasal Polyps in Smoking and Non-Smoking Patients Correlated with Interleukin-17 and Tumor Necrosis Factor-α Levels.
RFTN1 facilitates gastric cancer progression by modulating AKT/p38 signaling pathways.
Title: RFTN1 facilitates gastric cancer progression by modulating AKT/p38 signaling pathways.
Raftlin is recruited by neuropilin-1 to the activated VEGFR2 complex to control proangiogenic signaling.
Title: Raftlin is recruited by neuropilin-1 to the activated VEGFR2 complex to control proangiogenic signaling.
this study shows that raftlin appears to modulate cargo selection as an accessary protein of clathrin-associated adaptor protein-2 in clathrin-mediated endocytosis of TLR3/4 ligands
Title: Raftlin Controls Lipopolysaccharide-Induced TLR4 Internalization and TICAM-1 Signaling in a Cell Type-Specific Manner.
Mitogen-inducible Gene-2 expression is reduced in breast cancer.
Title: Mitogen-inducible Gene-2 (MIG2) and migfilin expression is reduced in samples of human breast cancer.
combination of ATOH7 and RFTN1 SNPs increased risk to POAG, indicating their diversified effects in the complex genetics of glaucoma.
Title: Interactive effects of ATOH7 and RFTN1 in association with adult-onset primary open-angle glaucoma.
Raftlin cooperates with the uptake receptor to mediate cell entry of poly(I:C), which is critical for activation of TLR3.
Title: Raftlin is involved in the nucleocapture complex to induce poly(I:C)-mediated TLR3 activation.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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
Common body mass index-associated variants confer risk of extreme obesity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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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

RH25312 (e-PCR)
- UniSTS:31502

RH92877 (e-PCR)
- UniSTS:89893

D3S3885 (e-PCR)
- UniSTS:40488

SHGC-58196 (e-PCR)
- UniSTS:94312

SHGC-79918 (e-PCR)
- UniSTS:101486

SHGC-86345 (e-PCR)
- UniSTS:104068

SHGC-83722 (e-PCR)
- UniSTS:104327

SHGC-76751 (e-PCR)
- UniSTS:48776

G62938 (e-PCR)
- UniSTS:139913

SHGC-105736 (e-PCR)
- UniSTS:169400

D3S3473 (e-PCR), detects polymorphism
- UniSTS:64195

SHGC-150983 (e-PCR)
- UniSTS:173523

RH12058 (e-PCR)
- UniSTS:75482

RH78558 (e-PCR)
- UniSTS:47322

RH35828 (e-PCR)
- UniSTS:79581

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables double-stranded RNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in T cell antigen processing and presentation	ISS Inferred from Sequence or Structural Similarity more info
involved_in T cell receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within dsRNA transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane raft assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of growth rate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-17 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to membrane raft	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein transport into membrane raft	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within response to exogenous dsRNA	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within toll-like receptor 3 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	IEA Inferred from Electronic Annotation more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: raftlin

Names: cell migration-inducing gene 2 protein; proliferation-inducing protein 10; proliferation-inducing protein 9; raft-linking protein

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.