• Gene id: 752

Gene Summary

• Gene Symbol: FMNL1   Gene   UCSC   Ensembl
• Aliases: C17orf1, C17orf1B, FHOD4, FMNL, KW-13
• Gene name: formin like 1
• Alternate names: formin-like protein 1, CLL-associated antigen KW-13, leukocyte formin,
• Gene location: 17q21.31 (45220267: 45247321)     Exons: 27     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 614117

SNPs

rs11135484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.96886185A>G
NC_000005.9   g.96221889A>G
NG_027839.2   g.54799T>C
NG_051092.1   g.15247A>G|SEQ=[A/G]|GENE=ERAP1
ERAP2   64167

rs11135482

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.96885722G>A
NC_000005.9   g.96221426G>A
NG_027839.2   g.55262C>T
NG_051092.1   g.14784G>A|SEQ=[G/A]|GENE=ERAP1
ERAP2   64167

Protein Summary

• Protein general information: O95466  
  • Name: Formin like protein 1 (CLL associated antigen KW 13) (Leukocyte formin)
  • Length: 1100  
  • Mass: 121854
  • Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
• Sequence:

  MGNAAGSAEQPAGPAAPPPKQPAPPKQPMPAAGELEERFNRALNCMNLPPDKVQLLSQYDNEKKWELICDQERFQ
  VKNPPAAYIQKLKSYVDTGGVSRKVAADWMSNLGFKRRVQESTQVLRELETSLRTNHIGWVQEFLNEENRGLDVL
  LEYLAFAQCSVTYDMESTDNGASNSEKNKPLEQSVEDLSKGPPSSVPKSRHLTIKLTPAHSRKALRNSRIVSQKD
  DVHVCIMCLRAIMNYQSGFSLVMNHPACVNEIALSLNNKNPRTKALVLELLAAVCLVRGGHDIILAAFDNFKEVC
  GEQHRFEKLMEYFRNEDSNIDFMVACMQFINIVVHSVENMNFRVFLQYEFTHLGLDLYLERLRLTESDKLQVQIQ
  AYLDNIFDVGALLEDTETKNAVLEHMEELQEQVALLTERLRDAENESMAKIAELEKQLSQARKELETLRERFSES
  TAMGPSRRPPEPEKAPPAAPTRPSALELKVEELEEKGLIRILRGPGDAVSIEILPVAVATPSGGDAPTPGVPTGS
  PSPDLAPAAEPAPGAAPPPPPPLPGLPSPQEAPPSAPPQAPPLPGSPEPPPAPPLPGDLPPPPPPPPPPPGTDGP
  VPPPPPPPPPPPGGPPDALGRRDSELGPGVKAKKPIQTKFRMPLLNWVALKPSQITGTVFTELNDEKVLQELDMS
  DFEEQFKTKSQGPSLDLSALKSKAAQKAPSKATLIEANRAKNLAITLRKGNLGAERICQAIEAYDLQALGLDFLE
  LLMRFLPTEYERSLITRFEREQRPMEELSEEDRFMLCFSRIPRLPERMTTLTFLGNFPDTAQLLMPQLNAIIAAS
  MSIKSSDKLRQILEIVLAFGNYMNSSKRGAAYGFRLQSLDALLEMKSTDRKQTLLHYLVKVIAEKYPQLTGFHSD
  LHFLDKAGSVSLDSVLADVRSLQRGLELTQREFVRQDDCMVLKEFLRANSPTMDKLLADSKTAQEAFESVVEYFG
  ENPKTTSPGLFFSLFSRFIKAYKKAEQEVEQWKKEAAAQEAGADTPGKGEPPAPKSPPKARRPQMDLISELKRRQ
  QKEPLIYESDRDGAIEDIITVIKTVPFTARTGKRTSRLLCEASLGEEMPL

• Structural information:
  • Protein Domains: (27..46-)
    (/note="GBD/FH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00579-)
    (632..102-)
    (/note="FH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00774-)
    (1059..109-)
    (/note="DAD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00577"-)
  • Interpro: IPR016024  IPR014767  IPR015425  IPR042201  IPR010472   IPR027657  IPR014768  IPR010473  
  • Prosite: PS51231 PS51444 PS51232
  • PDB: 4YDH
  • PDBsum: 4YDH
  • STRING: ENSP00000329219
• Other Databases: GeneCards:  FMNL1  Malacards:  FMNL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051015	actin filament binding	IBA	molecular function
GO:0030866	cortical actin cytoskeleton organization	IBA	biological process
GO:0016477	cell migration	IBA	biological process
GO:0008360	regulation of cell shape	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0032794	GTPase activating protein binding	IDA	molecular function
GO:0051015	actin filament binding	ISS	molecular function
GO:0030866	cortical actin cytoskeleton organization	IMP	biological process
GO:0008360	regulation of cell shape	IMP	biological process
GO:0005829	cytosol	ISS	cellular component
GO:0051014	actin filament severing	ISS	biological process
GO:0048365	Rac GTPase binding	ISS	molecular function
GO:0045335	phagocytic vesicle	ISS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0017048	Rho GTPase binding	IEA	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0016043	cellular component organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0051015	actin filament binding	IEA	molecular function
GO:0005522	profilin binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0006929	substrate-dependent cell migration	IEA	biological process
GO:0009987	cellular process	IEA	biological process
GO:0032794	GTPase activating protein binding	IEA	molecular function
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0048365	Rac GTPase binding	IEA	molecular function
GO:0051014	actin filament severing	IEA	biological process
GO:0005938	cell cortex	IEA	cellular component
GO:0032059	bleb	IEA	cellular component
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R