Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	752
Gene name Gene Name - the full gene name approved by the HGNC.	Formin like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FMNL1
Synonyms (NCBI Gene) Gene synonyms aliases	C17orf1, C17orf1B, FHOD4, FMNL, KW-13
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q21.31
Summary Summary of gene provided in NCBI Entrez Gene.	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

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miRTarBase ID	miRNA	Experiments
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

Show/Hide all(32)

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

MIM	HGNC	e!Ensembl
604656	1212	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

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells		RHO GTPases Activate Formins

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Asthma	Asthma (childhood onset)	N/A	N/A	GWAS
Dementia	Dementia	N/A	N/A	GWAS
Hypothyroidism	Hypothyroidism	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Asthma	Associate	32828590
Breast Neoplasms	Stimulate	36124068
Carcinoma Renal Cell	Associate	34872567
Glioblastoma	Associate	31861134
Glomerulonephritis Membranous	Associate	35953506
Hematologic Neoplasms	Associate	17626842
Kidney Diseases	Associate	35953506
Leukemia	Stimulate	17626842
Leukemia Prolymphocytic T Cell	Associate	23025755
Leukemia T Cell	Associate	23025755
Lymphoma	Associate	17626842
Neoplasms	Associate	17626842, 19815554, 23025755, 32034058, 34115237, 36124068
Proteinuria	Associate	35953506
Stomach Neoplasms	Associate	32034058, 34115237
Thromboangiitis Obliterans	Associate	38275601

FMNL1 (formin like 1)