FMNL1 formin like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FMNL1provided by HGNC
Official Full Name: formin like 1provided by HGNC
Primary source: HGNC:HGNC:1212
See related: Ensembl:ENSG00000184922 MIM:604656; AllianceGenome:HGNC:1212
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: FMNL; FHOD4; KW-13; C17orf1; C17orf1B
Summary: This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]
Expression: Biased expression in bone marrow (RPKM 59.8), appendix (RPKM 26.8) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.31

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (45221885..45247318)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (46075604..46101052)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (43299252..43324685)

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 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?

Formin-related protein 1 facilitates proliferation and aggressive phenotype of clear cell renal cell carcinoma through MAPK/MMP2 pathway.
Title: Formin-related protein 1 facilitates proliferation and aggressive phenotype of clear cell renal cell carcinoma through MAPK/MMP2 pathway.
miR-143 inhibits proliferation and metastasis of nasopharyngeal carcinoma cells via targeting FMNL1 based on clinical and radiologic findings.
Title: miR-143 inhibits proliferation and metastasis of nasopharyngeal carcinoma cells via targeting FMNL1 based on clinical and radiologic findings.
The carboxy-terminus of the formin FMNL1 bundles actin to potentiate adenocarcinoma migration.
Title: The carboxy-terminus of the formin FMNL1ɣ bundles actin to potentiate adenocarcinoma migration.
Formin-like 1 protein (FMNL1) is a promising therapeutic target for glioblastoma multiforme (GBM) progression.
Title: Formin-like 1 (FMNL1) Is Associated with Glioblastoma Multiforme Mesenchymal Subtype and Independently Predicts Poor Prognosis.
Suppressing FMNL1 expression could inhibit bone metastasis in NSCLC through blocking TGF-beta1 signaling.
Title: FMNL1 down-regulation suppresses bone metastasis through reducing TGF-β1 expression in non-small cell lung cancer (NSCLC).
Results indicated that FMNL1 is a susceptibility gene for leprosy.
Title: A pathway-based association analysis identified FMNL1-MAP3K14 as susceptibility genes for leprosy.
High expression of FMNL1, resulted from decreased miR-16 and/or MTA1 amplification.
Title: FMNL1 mediates nasopharyngeal carcinoma cell aggressiveness by epigenetically upregulating MTA1.
FMNL1 contributes to leukemogenesis and could act in part through Rac1 regulation.
Title: FMNL1 promotes proliferation and migration of leukemia cells.
constitutively activated form of FMNL1 (FMNL1gamma) induces localization of AHNAK1 to the cell membrane.
Title: Proteomic investigation of the interactome of FMNL1 in hematopoietic cells unveils a role in calcium-dependent membrane plasticity.
Results suggest that macrophage coiling phagocytosis is a complex process involving several actin nucleation/regulatory factors. They also point specifically to the formins mDia1 and FMNL1 as novel regulators of spirochete uptake by human immune cells.
Title: The formins FMNL1 and mDia1 regulate coiling phagocytosis of Borrelia burgdorferi by primary human macrophages.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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

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

MARC_7909-7910:1010423816:1 (e-PCR)
- UniSTS:269852

RH11891 (e-PCR)
- UniSTS:76641

WI-16011 (e-PCR)
- UniSTS:17796

D17S1371E (e-PCR)
- UniSTS:150433

FMNL1_8237 (e-PCR)
- UniSTS:468421

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activating protein binding	IDA Inferred from Direct Assay more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	ISS Inferred from Sequence or Structural Similarity more info
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in actin filament severing	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in cortical actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cortical actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell shape	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell shape	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in bleb	IEA Inferred from Electronic Annotation more info
located_in cell cortex	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in phagocytic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: formin-like protein 1

Names: CLL-associated antigen KW-13; leukocyte formin

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_001411128.1 → NP_001398057.1 formin-like protein 1 isoform 2

Status: REVIEWED

Source sequence(s)

AC008105

Consensus CDS

CCDS92339.1

Related

ENSP00000465474.2, ENST00000587489.6
NM_005892.4 → NP_005883.3 formin-like protein 1 isoform 1

Status: REVIEWED

Source sequence(s)

AC008105

Consensus CDS

CCDS11497.1

UniProtKB/Swiss-Prot

D2DGW2, O95466, Q6DKG5, Q6IBP3, Q86UH1, Q8N671, Q8TDH1, Q96H10

Related

ENSP00000329219.2, ENST00000331495.8

Conserved Domains (3) summary

pfam02181
Location:633 → 998

FH2; Formin Homology 2 Domain

pfam06367
Location:284 → 433

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:34 → 281

Drf_GBD; Diaphanous GTPase-binding Domain