FLOT1 flotillin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FLOT1provided by HGNC
Official Full Name: flotillin 1provided by HGNC
Primary source: HGNC:HGNC:3757
See related: Ensembl:ENSG00000137312 MIM:606998; Vega:OTTHUMG00000031151
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes an protein that localizes to the caveolae, which are small domains on the inner cell membranes. This protein plays a role in vesicle trafficking and cell morphology. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Expression: Ubiquitous expression in adrenal (RPKM 66.3), heart (RPKM 56.6) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 6p21.33

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	6	NC_000006.12 (30727709..30742851, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (30695506..30710687, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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 Jun 15 11:32:44 2016

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

flotillin-1 is a tumorigenic protein that plays an important role in promoting the proliferation and tumorigenicity of LUAD.
Title: Flotilin-1 promotes the tumorigenicity and progression of malignant phenotype in human lung adenocarcinoma.
flotillin has a role in desmosomal adhesion and Pemphigus vulgaris-like localisation of desmoglein-3 in human keratinocytes
Title: Loss of flotillin expression results in weakened desmosomal adhesion and Pemphigus vulgaris-like localisation of desmoglein-3 in human keratinocytes.
Autoantibodies against flotillin-1/2 heterocomplex are present in 1-2% of patients with bona fide multiple sclerosis.
Title: Identification of the flotillin-1/2 heterocomplex as a target of autoantibodies in bona fide multiple sclerosis.
Furthermore, we identify flotillin-1 (FLOT1) and histone H1 as downstream factors for cytoplasmic and nuclear pathway of S100A11, which are required for LASP1-S100A11 axis-mediated epithelial-mesenchymal transition and colorectal cancer progression.
Title: LASP1-S100A11 axis promotes colorectal cancer aggressiveness by modulating TGFβ/Smad signaling.
FLOT1 is associated with aggressive characteristics of HCC
Title: High Expression of FLOT1 Is Associated with Progression and Poor Prognosis in Hepatocellular Carcinoma.
This study presents the endocytic pathways of internalization for muscarinic type 3 receptor and flotillin-1/2 in salivary gland epithelial cells. knockdown of flot-1 or -2 by flotillin-specific siRNA prevented internalization and reduced the endocytic efficiency of muscarinic type 3 receptor.
Title: Role of flotillins in the endocytosis of GPCR in salivary gland epithelial cells.
Data show that overexpression of 4.1N protein decreased expression of flotillin-1, decreased activation of beta-catenin/Wnt pathway in non-small-cell lung cancer (NSCLC) cells.
Title: 4.1N is involved in a flotillin-1/β-catenin/Wnt pathway and suppresses cell proliferation and migration in non-small cell lung cancer cell lines.
Upregulation of flotillin-1 promotes invasion and metastasis by activating TGF-beta signaling in nasopharyngeal carcinoma.
Title: Upregulation of flotillin-1 promotes invasion and metastasis by activating TGF-β signaling in nasopharyngeal carcinoma.
Flotillin-1 protein is upregulated in human endometrial cancer and localization shifts from epithelial to stromal with increasing tumor grade
Title: Flotillin-1 protein is upregulated in human endometrial cancer and localization shifts from epithelial to stromal with increasing tumor grade.
Expression of flotillin-1 was associated with H-Ras in breast cancer, especially in TNBC (p < 0.001).
Title: A novel role for flotillin-1 in H-Ras-regulated breast cancer aggressiveness.

Submit: New GeneRIF Correction See all GeneRIFs (57)

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

NHGRI GWAS Catalog

Description
Genetic predictors of medically refractory ulcerative colitis. NHGRI GWA Catalog NHGRI GWA 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	Immunoblot of sucrose fractions to lipid raft marker Flotillin-1 and non-lipid raft marker TfR shows that HIV-1 Gag and Env interact with both Flotillin-1 and TfR in cells	PubMed
	env	HIV-1 gp160 is identified to have a physical interaction with flotillin 1 (FLOT1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Envelope transmembrane glycoprotein gp41	env	HIV-1 gp41 is identified to have a physical interaction with flotillin 1 (FLOT1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Pr55(Gag)	gag	Immunoblot of sucrose fractions to lipid raft marker Flotillin-1 and non-lipid raft marker TfR shows that HIV-1 Gag and Env interact with both Flotillin-1 and TfR in cells	PubMed
Tat	tat	HIV-1 Tat co-localizes with APP and promotes localization of APP to lipid rafts with flotillin-1 in HIV-1 infected U-87 MG cells	PubMed
Vpu	vpu	HIV-1 Vpu predominantly co-localizes to the detergent-soluble fractions with a non-raft protein TfR and partially partitions to the detergent-resistant membrane fractions with a raft protein flotillin 1	PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

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Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystem (from WikiPathways)
Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystemThe hepatic ANGPTL8 (Angiopoietin Like Protein 8) regulatory pathway represents an up-to-date curated interactive pathway for all of the interactions from the known regulators of ANGPTL8 and updated ...
Insulin Signaling, organism-specific biosystem (from WikiPathways)
Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
Insulin signaling pathway, organism-specific biosystem (from KEGG)
Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
Insulin signaling pathway, conserved biosystem (from KEGG)
Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
Neuronal System, organism-specific biosystem (from REACTOME)
Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
Protein-protein interactions at synapses, organism-specific biosystem (from REACTOME)
Protein-protein interactions at synapses, organism-specific biosystemSynapses constitute highly specialized sites of asymmetric cell-cell adhesion and intercellular communication. Its formation involves the recruitment of presynaptic and postsynaptic molecules at newl...
SALM protein interactions at the synapses, organism-specific biosystem (from REACTOME)
SALM protein interactions at the synapses, organism-specific biosystemRecruitment of receptors and ion channels to the postsynaptic membrane is the last step in synapse formation. Many of these proteins interact directly or indirectly with postsynaptic density-95 (PSD9...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC98754P3 (e-PCR)
- UniSTS:273680

STS-AA034911 (e-PCR)
- UniSTS:25395

RH46785 (e-PCR)
- UniSTS:58680

RH78215 (e-PCR)
- UniSTS:49214

IER3_130 (e-PCR)
- UniSTS:277345

G62116 (e-PCR)
- UniSTS:139159

D6S2115 (e-PCR)
- UniSTS:60836

RH12614 (e-PCR)
- UniSTS:43448

PMC154982P1 (e-PCR)
- UniSTS:271317

PMC154982P2 (e-PCR)
- UniSTS:271318

PMC154982P3 (e-PCR)
- UniSTS:271319

WI-18721 (e-PCR)
- UniSTS:80366

RH91431 (e-PCR)
- UniSTS:91128

Homology

Homologs of the FLOT1 gene: The FLOT1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 160 organisms have orthologs with human gene FLOT1
The Hierarchical Catalog of Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ionotropic glutamate receptor binding	IEA Inferred from Electronic Annotation more info
protease binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein heterodimerization activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
axonogenesis	IEA Inferred from Electronic Annotation more info
cellular response to exogenous dsRNA	IMP Inferred from Mutant Phenotype more info	PubMed
dsRNA transport	IMP Inferred from Mutant Phenotype more info	PubMed
extracellular matrix disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
membrane raft assembly	IMP Inferred from Mutant Phenotype more info	PubMed
plasma membrane raft assembly	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of cell adhesion molecule production	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of cell junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of cell-cell adhesion mediated by cadherin	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of heterotypic cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of interferon-beta production	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of myoblast fusion	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of synaptic transmission, dopaminergic	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of toll-like receptor 3 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
protein homooligomerization	IMP Inferred from Mutant Phenotype more info	PubMed
protein kinase C signaling	IMP Inferred from Mutant Phenotype more info	PubMed
protein localization to membrane raft	IMP Inferred from Mutant Phenotype more info	PubMed
protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of Rho protein signal transduction	IEA Inferred from Electronic Annotation more info
regulation of neurotransmitter uptake	EXP Inferred from Experiment more info	PubMed
regulation of neurotransmitter uptake	IDA Inferred from Direct Assay more info	PubMed
regulation of neurotransmitter uptake	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of receptor internalization	IMP Inferred from Mutant Phenotype more info	PubMed
NOT regulation of toll-like receptor 4 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with COP9 signalosome	IDA Inferred from Direct Assay more info	PubMed
GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
NOT apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
caveola	TAS Traceable Author Statement more info	PubMed
cell-cell adherens junction	IDA Inferred from Direct Assay more info	PubMed
cell-cell contact zone	IDA Inferred from Direct Assay more info	PubMed
cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
centriolar satellite	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with cortical actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
dopaminergic synapse	EXP Inferred from Experiment more info	PubMed
dopaminergic synapse	IDA Inferred from Direct Assay more info	PubMed
dopaminergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
early endosome	IDA Inferred from Direct Assay more info	PubMed
endosome	IDA Inferred from Direct Assay more info	PubMed
external side of plasma membrane	IEA Inferred from Electronic Annotation more info
extracellular exosome	HDA more info	PubMed
flotillin complex	IDA Inferred from Direct Assay more info	PubMed
focal adhesion	HDA more info	PubMed
glutamatergic synapse	IEA Inferred from Electronic Annotation more info
lamellipodium	IDA Inferred from Direct Assay more info	PubMed
lysosomal membrane	HDA more info	PubMed
melanosome	IEA Inferred from Electronic Annotation more info
membrane	HDA more info	PubMed
membrane raft	IDA Inferred from Direct Assay more info	PubMed
microtubule organizing center	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
plasma membrane	TAS Traceable Author Statement more info	PubMed
presynaptic active zone	IEA Inferred from Electronic Annotation more info
sarcolemma	IEA Inferred from Electronic Annotation more info
uropod	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: flotillin-1

Names: integral membrane component of caveolae

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.

mRNA and Protein(s)

NM_001318875.1 → NP_001305804.1 flotillin-1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AF117234, AK301291, HY101236

UniProtKB/Swiss-Prot

O75955

Conserved Domains (2) summary

cd03399
Location:30 → 127

SPFH_flotillin; Flotillin or reggie family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

cl19107
Location:193 → 299

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
NM_005803.3 → NP_005794.1 flotillin-1 isoform 1

See identical proteins and their annotated locations for NP_005794.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AF089750, AF117234, HY101236

Consensus CDS

CCDS4688.1

UniProtKB/Swiss-Prot

O75955

UniProtKB/TrEMBL

Q5ST80

Related

ENSP00000365569.3, OTTHUMP00000029208, ENST00000376389.7, OTTHUMT00000076276

Conserved Domains (2) summary

cd03399
Location:30 → 175

SPFH_flotillin; Flotillin or reggie family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

cl25773
Location:4 → 419

Flot; Flotillin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p12 Primary Assembly

Range

30727709..30742851 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006714947.3 → XP_006715010.1 flotillin-1 isoform X4

See identical proteins and their annotated locations for XP_006715010.1

Conserved Domains (3) summary

smart00244
Location:31 → 213

PHB; prohibitin homologues

cd03399
Location:18 → 122

SPFH_flotillin; Flotillin or reggie family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

cl19107
Location:188 → 294

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_005248780.3 → XP_005248837.1 flotillin-1 isoform X1

See identical proteins and their annotated locations for XP_005248837.1

UniProtKB/Swiss-Prot

O75955

UniProtKB/TrEMBL

Q5ST80

Conserved Domains (2) summary

cd03399
Location:30 → 175

SPFH_flotillin; Flotillin or reggie family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

cl25773
Location:4 → 419

Flot; Flotillin
XM_017010158.1 → XP_016865647.1 flotillin-1 isoform X3
XM_017010157.1 → XP_016865646.1 flotillin-1 isoform X2