FLII FLII actin remodeling protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: FLIIprovided by HGNC
Official Full Name: FLII actin remodeling proteinprovided by HGNC
Primary source: HGNC:HGNC:3750
See related: Ensembl:ENSG00000177731 MIM:600362; AllianceGenome:HGNC:3750
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
Also known as: FLI; FLIL; Fli1; CMD2J
Summary: This gene encodes a protein with a gelsolin-like actin binding domain and an N-terminal leucine-rich repeat-protein protein interaction domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
Annotation information: Note: FLI1 (Gene ID: 2313) and FLII (Gene ID: 2314) share the FLI1 symbol/alias in common. FLI1 is a widely used alternative name for FLII, actin remodeling protein (FLII), which can be confused with the official symbol for FLI1 (Fli-1 proto-oncogene, ETS transcription factor, GeneID 2313). [01 Jun 2018]
Expression: Ubiquitous expression in testis (RPKM 32.8), spleen (RPKM 32.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p11.2

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (18244815..18259022, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (18191619..18205827, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (18148129..18162336, complement)

Chromosome 17 - NC_000017.11 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?

A human FLII gene variant alters sarcomeric actin thin filament length and predisposes to cardiomyopathy.
Title: A human FLII gene variant alters sarcomeric actin thin filament length and predisposes to cardiomyopathy.
Flightless I Homolog Reverses Enzalutamide Resistance through PD-L1-Mediated Immune Evasion in Prostate Cancer.
Title: Flightless I Homolog Reverses Enzalutamide Resistance through PD-L1-Mediated Immune Evasion in Prostate Cancer.
FLII and MLL1 Cooperatively Regulate Aryl Hydrocarbon Receptor-Mediated Transcription in ARPE-19 Cells.
Title: FLII and MLL1 Cooperatively Regulate Aryl Hydrocarbon Receptor-Mediated Transcription in ARPE-19 Cells.
Increased Expression of Flightless I in Cutaneous Squamous Cell Carcinoma Affects Wnt/beta-Catenin Signaling Pathway.
Title: Increased Expression of Flightless I in Cutaneous Squamous Cell Carcinoma Affects Wnt/β-Catenin Signaling Pathway.
Role of the small GTPase activating protein IQGAP1 in collagen phagocytosis.
Title: Role of the small GTPase activating protein IQGAP1 in collagen phagocytosis.
Flightless-1 inhibits ER stress-induced apoptosis in colorectal cancer cells by regulating Ca(2+) homeostasis.
Title: Flightless-1 inhibits ER stress-induced apoptosis in colorectal cancer cells by regulating Ca(2+) homeostasis.
Increasing the level of cytoskeletal protein Flightless I reduces adhesion formation in a murine digital flexor tendon model.
Title: Increasing the level of cytoskeletal protein Flightless I reduces adhesion formation in a murine digital flexor tendon model.
Flightless I, a contributing factor to skin blistering in Kindler syndrome patients?
Title: Flightless I, a contributing factor to skin blistering in Kindler syndrome patients?
Attenuation of Flightless I Increases Human Pericyte Proliferation, Migration and Angiogenic Functions and Improves Healing in Murine Diabetic Wounds.
Title: Attenuation of Flightless I Increases Human Pericyte Proliferation, Migration and Angiogenic Functions and Improves Healing in Murine Diabetic Wounds.
the role of Flii in ulcerative colitis and mucosal damage
Title: Flightless I exacerbation of inflammatory responses contributes to increased colonic damage in a mouse model of dextran sulphate sodium-induced ulcerative colitis.

Submit: New GeneRIF Correction See all GeneRIFs (34)

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
Cardiomyopathy, dilated, 2j MedGen: CN375833 OMIM: 620635 GeneReviews: Not available	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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Replication interactions

Interaction	Pubs
Knockdown of flightless I homolog (FLII) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	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

SHGC-12561 (e-PCR)
- UniSTS:91912

D17S1711 (e-PCR)
- UniSTS:153873

RH39400 (e-PCR)
- UniSTS:88876

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4,5-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament severing	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin polymerization or depolymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in barbed-end actin filament capping	IBA Inferred from Biological aspect of Ancestor more info
involved_in myofibril assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in brush border	IEA Inferred from Electronic Annotation more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in focal adhesion	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein flightless-1 homolog

Names: flightless I actin binding protein; flightless I homolog

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.

Genomic

NG_023243.1 RefSeqGene

Range

5004..18927

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001256264.2 → NP_001243193.1 protein flightless-1 homolog isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate 5' exon, which includes the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.

Source sequence(s)

AC127537, AK310400, BC025300, BM930929

Consensus CDS

CCDS58521.1

UniProtKB/TrEMBL

B4DIX0

Related

ENSP00000463534.1, ENST00000579294.5

Conserved Domains (9) summary

cd11280
Location:608 → 695

gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins

cd11288
Location:1042 → 1141

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins

cd11290
Location:481 → 593

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins

cd11291
Location:1152 → 1251

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins

cd11292
Location:712 → 826

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins

cd00116
Location:78 → 363

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00031
Location:72 → 94

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:95 → 117

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:120 → 175

LRR_8; Leucine rich repeat
NM_001256265.2 → NP_001243194.1 protein flightless-1 homolog isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, compared to variant 1. The resulting isoform (3) is shorter than isoform 1.

Source sequence(s)

AK295655, BC017030, BM930929, DC341570

Consensus CDS

CCDS58522.1

UniProtKB/TrEMBL

B4DIX0

Related

ENSP00000438536.2, ENST00000545457.6

Conserved Domains (8) summary

cd11280
Location:564 → 651

gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins

cd11288
Location:998 → 1097

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins

cd11290
Location:437 → 549

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins

cd11291
Location:1108 → 1207

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins

cd11292
Location:668 → 782

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins

cd00116
Location:26 → 228

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:58 → 80

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:169 → 227

LRR_8; Leucine rich repeat
NM_002018.4 → NP_002009.1 protein flightless-1 homolog isoform 1

See identical proteins and their annotated locations for NP_002009.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

BC025300, BM930929

Consensus CDS

CCDS11192.1

UniProtKB/Swiss-Prot

B4DIL0, F5H407, J3QLG3, Q13045

UniProtKB/TrEMBL

B4DIX0

Related

ENSP00000324573.4, ENST00000327031.9

Conserved Domains (9) summary

cd11280
Location:619 → 706

gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins

cd11288
Location:1053 → 1152

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins

cd11290
Location:492 → 604

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins

cd11291
Location:1163 → 1262

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins

cd11292
Location:723 → 837

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins

cd00116
Location:89 → 374

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00031
Location:83 → 105

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:106 → 128

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:131 → 186

LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

18244815..18259022 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005256558.4 → XP_005256615.1 protein flightless-1 homolog isoform X3

UniProtKB/TrEMBL

B4DIX0

Conserved Domains (9) summary

cd11280
Location:618 → 705

gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins

cd11288
Location:1052 → 1151

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins

cd11290
Location:491 → 603

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins

cd11291
Location:1162 → 1261

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins

cd11292
Location:722 → 836

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins

cd00116
Location:89 → 374

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00031
Location:83 → 105

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:106 → 128

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:131 → 186

LRR_8; Leucine rich repeat
XM_005256556.5 → XP_005256613.1 protein flightless-1 homolog isoform X2

UniProtKB/TrEMBL

B4DIX0

Conserved Domains (9) summary

cd11280
Location:618 → 705

gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins

cd11288
Location:1052 → 1151

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins

cd11290
Location:491 → 603

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins

cd11291
Location:1162 → 1288

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins

cd11292
Location:722 → 836

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins

cd00116
Location:89 → 374

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00031
Location:83 → 105

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:106 → 128

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:131 → 186

LRR_8; Leucine rich repeat
XM_005256555.5 → XP_005256612.1 protein flightless-1 homolog isoform X1

UniProtKB/TrEMBL

B4DIX0

Conserved Domains (9) summary

cd11280
Location:619 → 706

gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins

cd11288
Location:1053 → 1152

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins

cd11290
Location:492 → 604

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins

cd11291
Location:1163 → 1289

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins

cd11292
Location:723 → 837

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins

cd00116
Location:89 → 374

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00031
Location:83 → 105

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:106 → 128

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:131 → 186

LRR_8; Leucine rich repeat