FMNL1 (formin like 1)

Gene

• Entrez ID: 752
• Gene name: Formin like 1
• Gene symbol: FMNL1
• Synonyms (NCBI Gene): C17orf1, C17orf1B, FHOD4, FMNL, KW-13
• Chromosome: 17
• Chromosome location: 17q21.31
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT999516	hsa-miR-1972	CLIP-seq
MIRT999517	hsa-miR-3155	CLIP-seq
MIRT999518	hsa-miR-3155b	CLIP-seq
MIRT999519	hsa-miR-3667-3p	CLIP-seq
MIRT999520	hsa-miR-4438	CLIP-seq
MIRT999521	hsa-miR-4755-3p	CLIP-seq
MIRT999522	hsa-miR-484	CLIP-seq
MIRT999523	hsa-miR-502-5p	CLIP-seq
MIRT999524	hsa-miR-5095	CLIP-seq
MIRT1996263	hsa-miR-1976	CLIP-seq
MIRT1996264	hsa-miR-2467-5p	CLIP-seq
MIRT999517	hsa-miR-3155	CLIP-seq
MIRT999518	hsa-miR-3155b	CLIP-seq
MIRT1996265	hsa-miR-3188	CLIP-seq
MIRT1996266	hsa-miR-370	CLIP-seq
MIRT1996267	hsa-miR-3975	CLIP-seq
MIRT1996268	hsa-miR-4477a	CLIP-seq
MIRT1996269	hsa-miR-4649-3p	CLIP-seq
MIRT1996270	hsa-miR-4663	CLIP-seq
MIRT999521	hsa-miR-4755-3p	CLIP-seq
MIRT999522	hsa-miR-484	CLIP-seq
MIRT1996271	hsa-miR-485-5p	CLIP-seq
MIRT1996263	hsa-miR-1976	CLIP-seq
MIRT1996264	hsa-miR-2467-5p	CLIP-seq
MIRT999517	hsa-miR-3155	CLIP-seq
MIRT999518	hsa-miR-3155b	CLIP-seq
MIRT1996265	hsa-miR-3188	CLIP-seq
MIRT1996266	hsa-miR-370	CLIP-seq
MIRT1996267	hsa-miR-3975	CLIP-seq
MIRT1996269	hsa-miR-4649-3p	CLIP-seq
MIRT1996270	hsa-miR-4663	CLIP-seq
MIRT999521	hsa-miR-4755-3p	CLIP-seq
MIRT999522	hsa-miR-484	CLIP-seq
MIRT1996271	hsa-miR-485-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	21148482, 25416956, 34237247
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005938	Component	Cell cortex	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0008360	Process	Regulation of cell shape	IBA
GO:0008360	Process	Regulation of cell shape	IMP	21834987
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IBA
GO:0022604	Process	Regulation of cell morphogenesis	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030866	Process	Cortical actin cytoskeleton organization	IBA
GO:0030866	Process	Cortical actin cytoskeleton organization	IMP	21834987
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032059	Component	Bleb	IEA
GO:0032794	Function	GTPase activating protein binding	IDA	21148482
GO:0042995	Component	Cell projection	IEA
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0045335	Component	Phagocytic vesicle	ISS
GO:0051014	Process	Actin filament severing	ISS
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	ISS
GO:0070062	Component	Extracellular exosome	HDA	20458337

Other IDs

• MIM: 604656
• HGNC: 1212
• e!Ensembl: ENSG00000184922

Protein

• UniProt ID: O95466
• Protein name: Formin-like protein 1 (CLL-associated antigen KW-13) (Leukocyte formin)
• Protein function: May play a role in the control of cell motility and survival of macrophages (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape. {ECO:0
• PDB: 4YDH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06371	Drf_GBD	27 → 173	Diaphanous GTPase-binding Domain	Family
  PF06371	Drf_GBD	202 → 281	Diaphanous GTPase-binding Domain	Family
  PF06367	Drf_FH3	284 → 450	Diaphanous FH3 Domain	Family
  PF02181	FH2	632 → 998	Formin Homology 2 Domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
• Sequence:

  MGNAAGSAEQPAGPAAPPPKQPAPPKQPMPAAGELEERFNRALNCMNLPPDKVQLLSQYD
  NEKKWELICDQERFQVKNPPAAYIQKLKSYVDTGGVSRKVAADWMSNLGFKRRVQESTQV
  LRELETSLRTNHIGWVQEFLNEENRGLDVLLEYLAFAQCSVTYDMESTDNGASNSEKNKP
  LEQSVEDLSKGPPSSVPKSRHLTIKLTPAHSRKALRNSRIVSQKDDVHVCIMCLRAIMNY
  QSGFSLVMNHPACVNEIALSLNNKNPRTKALVLELLAAVCLVRGGHDIILAAFDNFKEVC
  GEQHRFEKLMEYFRNEDSNIDFMVACMQFINIVVHSVENMNFRVFLQYEFTHLGLDLYLE
  RLRLTESDKLQVQIQAYLDNIFDVGALLEDTETKNAVLEHMEELQEQVALLTERLRDAEN
  ESMAKIAELEKQLSQARKELETLRERFSESTAMGPSRRPPEPEKAPPAAPTRPSALELKV
  EELEEKGLIRILRGPGDAVSIEILPVAVATPSGGDAPTPGVPTGSPSPDLAPAAEPAPGA
  APPPPPPLPGLPSPQEAPPSAPPQAPPLPGSPEPPPAPPLPGDLPPPPPPPPPPPGTDGP
  VPPPPPPPPPPPGGPPDALGRRDSELGPGVKAKKPIQTKFRMPLLNWVALKPSQITGTVF
  TELNDEKVLQELDMSDFEEQFKTKSQGPSLDLSALKSKAAQKAPSKATLIEANRAKNLAI
  TLRKGNLGAERICQAIEAYDLQALGLDFLELLMRFLPTEYERSLITRFEREQRPMEELSE
  EDRFMLCFSRIPRLPERMTTLTFLGNFPDTAQLLMPQLNAIIAASMSIKSSDKLRQILEI
  VLAFGNYMNSSKRGAAYGFRLQSLDALLEMKSTDRKQTLLHYLVKVIAEKYPQLTGFHSD
  LHFLDKAGSVSLDSVLADVRSLQRGLELTQREFVRQDDCMVLKEFLRANSPTMDKLLADS
  KTAQEAFESVVEYFGENPKTTSPGLFFSLFSRFIKAYKKAEQEVEQWKKEAAAQEAGADT
  PGKGEPPAPKSPPKARRPQMDLISELKRRQQKEPLIYESDRDGAIEDIITVIKTVPFTAR
  TGKRTSRLLCEASLGEEMPL

• Sequence length: 1100

Pathways

KEGG:

Cytoskeleton in muscle cells

Reactome:

RHO GTPases Activate Formins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	30977161		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	32828590	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28057602		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	30977161		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36124068	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34872567	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	14592423		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	9799091		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31861134	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	35953506	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	17626842	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	23801653, 30013189, 31387165		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	16494944		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30367059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	35953506	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	29283461		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	17626842	Stimulate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	23801653		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	17626842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	17626842	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	16494944		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14592423, 17626842, 31387165		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30013189, 31001854		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31387165		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	9799091		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	35953506	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32034058, 34115237	Associate	★☆☆☆☆ Found in Text Mining only
Thromboangiitis Obliterans	Thromboangiitis obliterans	Pubtator	38275601	Associate	★☆☆☆☆ Found in Text Mining only