FMNL1 (formin like 1)

Gene

• Entrez ID: 752
• Gene name: Formin like 1
• Gene symbol: FMNL1
• Synonyms: 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:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	21148482
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	ISS
GO:0005938	Component	Cell cortex	IEA
GO:0008360	Process	Regulation of cell shape	IBA	21873635
GO:0008360	Process	Regulation of cell shape	IMP	21834987
GO:0016020	Component	Membrane	HDA	19946888
GO:0016477	Process	Cell migration	IBA	21873635
GO:0030866	Process	Cortical actin cytoskeleton organization	IBA	21873635
GO:0030866	Process	Cortical actin cytoskeleton organization	IMP	21834987
GO:0031267	Function	Small GTPase binding	ISS
GO:0032059	Component	Bleb	IEA
GO:0032794	Function	GTPase activating protein binding	IDA	21148482
GO:0045335	Component	Phagocytic vesicle	ISS
GO:0051014	Process	Actin filament severing	ISS
GO:0051015	Function	Actin filament binding	IBA	21873635
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

• 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

Causal
Disease name	Disease term	dbSNP ID	References
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605	30367059