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
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
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Genomic context

Location:: 6p21.33

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	6	NC_000006.12 (30727709..30742847, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (30695486..30710464, 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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Caveolin-1, tetraspanin CD81 and flotillins in lymphocyte cell membrane organization, signaling and immunopathology.
Title: Caveolin-1, tetraspanin CD81 and flotillins in lymphocyte cell membrane organization, signaling and immunopathology.
Flotillin and AP2A1/2 Promote IGF-1 Receptor Association with Clathrin and Internalization in Primary Human Keratinocytes.
Title: Flotillin and AP2A1/2 Promote IGF-1 Receptor Association with Clathrin and Internalization in Primary Human Keratinocytes.
Flotillin is a Novel Diagnostic Blood Marker of Alzheimer's Disease.
Title: Flotillin is a Novel Diagnostic Blood Marker of Alzheimer's Disease.
analysis of how flotillin-mediated endocytosis and ALIX-syntenin-1-mediated exocytosis protect the cell membrane from damage caused by necroptosis
Title: Flotillin-mediated endocytosis and ALIX-syntenin-1-mediated exocytosis protect the cell membrane from damage caused by necroptosis.
study identified FLOT1 as a novel MDD risk gene whose expression level may play a role in MDD. In addition, our findings also suggest that risk variants may confer risk of MDD through affecting expression of FLOT1.
Title: Integration of GWAS and brain eQTL identifies FLOT1 as a risk gene for major depressive disorder.
Results show that FLOT1 promotes tumor development, induces epithelial-mesenchymal transition, and modulates the cell cycle in lung adenocarcinoma by simultaneously affecting the Erk and Akt signaling pathways.
Title: FLOT1 promotes tumor development, induces epithelial-mesenchymal transition, and modulates the cell cycle by regulating the Erk/Akt signaling pathway in lung adenocarcinoma.
the presence of Flotillin-1, in addition to Flotillin-2 in the cardiac intercalated disc, is reported.
Title: Flotillins in the intercalated disc are potential modulators of cardiac excitability.
FLOT1 protein expression was significantly associated with serous epithelial ovarian tumor
Title: Flotillin 1 is differentially expressed in human epithelial ovarian tumors.
A new mechanism of sumoylated Flot-1-mediating Snail stabilization is presented.
Title: Sumoylation of Flotillin-1 promotes EMT in metastatic prostate cancer by suppressing Snail degradation.
Together, the data revealed that FLOT1 and FLOT2 are crucial for Anaplasma replication in host cells, likely by aiding vesicular traffic of low-density lipoprotein-derived free cholesterol to Anaplasma inclusions.
Title: Infection by Anaplasma phagocytophilum Requires Recruitment of Low-Density Lipoprotein Cholesterol by Flotillins.

Submit: New GeneRIF Correction See all GeneRIFs (68)

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

Associated conditions

Description	Tests
Genetic predictors of medically refractory ulcerative colitis. GeneReviews: Not available

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

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: 219 organisms have orthologs with human gene FLOT1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ionotropic glutamate receptor binding	IEA Inferred from Electronic Annotation more info
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
NOT located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in caveola	TAS Traceable Author Statement more info	PubMed
located_in cell-cell contact zone	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in centriolar satellite	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with cortical actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in dopaminergic synapse	IDA Inferred from Direct Assay more info	PubMed
located_in dopaminergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in dopaminergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in dopaminergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
part_of flotillin complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of flotillin complex	IDA Inferred from Direct Assay more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	HDA more info	PubMed
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule organizing center	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
located_in presynaptic active zone	IEA Inferred from Electronic Annotation more info
located_in sarcolemma	IEA Inferred from Electronic Annotation more info
located_in 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_001318875.2 → 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_005803.4 → 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, ENST00000376389.8

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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p13 Primary Assembly

Range

30727709..30742847 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