FMN1
Formin-1
Also known as: DKFZP686C2281, FLJ45135, FMN, FMN1_HUMAN, LD, MGC125288, MGC125289
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q68DA7
- Gene
- FMN1
- Ensembl
- ENSG00000248905
- Chromosome
- 15
- Canonical length
- 1419 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
Canonical amino-acid sequenceUniProt
1419 residues, UniProt reviewed canonical sequence.
>Q68DA7|FMN1
1 MEGTHCTLQL HKPITELCYI SFCLPKGEVR GFSYKGTVTL DRSNKGFHNC YQVREESDII
61 SLSQEPDEHP GDIFFKQTPT KDILTELYKL TTERERLLTN LLSSDHILGI TMGNQEGKLQ
121 ELSVSLAPED DCFQSAGDWQ GELPVGPLNK RSTHGNKKPR RSSGRRESFG ALPQKRTKRK
181 GRGGRESAPL MGKDKICSSH SLPLSRTRPN LWVLEEKGNL LPNGALACSL QRRESCPPDI
241 PKTPDTDLGF GSFETAFKDT GLGREVLPPD CSSTEAGGDG IRRPPSGLEH QQTGLSESHQ
301 DPEKHPEAEK DEMEKPAKRT CKQKPVSKVV AKVQDLSSQV QRVVKTHSKG KETIAIRPAA
361 HAEFVPKADL LTLPGAEAGA HGSRRQGKER QGDRSSQSPA GETASISSVS ASAEGAVNKV
421 PLKVIESEKL DEAPEGKRLG FPVHTSVPHT RPETRNKRRA GLPLGGHKSL FLDLPHKVGP
481 DSSQPRGDKK KPSPPAPAAL GKVFNNSASQ SSTHKQTSPV PSPLSPRLPS PQQHHRILRL
541 PALPGEREAA LNDSPCRKSR VFSGCVSADT LEPPSSAKVT ETKGASPAFL RAGQPRLVPG
601 ETLEKSLGPG KTTAEPQHQS PPGISSEGFP WDGFNEQTPK DLPNRDGGAW VLGYRAGPAC
661 PFLLHEEREK SNRSELYLDL HPDHSLTEQD DRTPGRLQAV WPPPKTKDTE EKVGLKYTEA
721 EYQAAILHLK REHKEEIENL QAQFELRAFH IRGEHAMITA RLEETIENLK HELEHRWRGG
781 CEERKDVCIS TDDDCPPKTF RNVCVQTDRE TFLKPCESES KTTRSNQLVP KKLNISSLSQ
841 LSPPNDHKDI HAALQPMEGM ASNQQKALPP PPASIPPPPP LPSGLGSLSP APPMPPVSAG
901 PPLPPPPPPP PPLPPPSSAG PPPPPPPPPL PNSPAPPNPG GPPPAPPPPG LAPPPPPGLF
961 FGLGSSSSQC PRKPAIEPSC PMKPLYWTRI QISDRSQNAT PTLWDSLEEP DIRDPSEFEY
1021 LFSKDTTQQK KKPLSETYEK KNKVKKIIKL LDGKRSQTVG ILISSLHLEM KDIQQAIFNV
1081 DDSVVDLETL AALYENRAQE DELVKIRKYY ETSKEEELKL LDKPEQFLHE LAQIPNFAER
1141 AQCIIFRSVF SEGITSLHRK VEIITRASKD LLHVKSVKDI LALILAFGNY MNGGNRTRGQ
1201 ADGYSLEILP KLKDVKSRDN GINLVDYVVK YYLRYYDQEA GTEKSVFPLP EPQDFFLASQ
1261 VKFEDLIKDL RKLKRQLEAS EKQMVVVCKE SPKEYLQPFK DKLEEFFQKA KKEHKMEESH
1321 LENAQKSFET TVRYFGMKPK SGEKEITPSY VFMVWYEFCS DFKTIWKRES KNISKERLKM
1381 AQESVSKLTS EKKVETKKIN PTASLKERLR QKEASVTTNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FMN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.58
- Highest tissue expression
- 28 nTPM
Expression across tissuesHPA
Tissue
- retina: 28 nTPM
- testis: 9.6 nTPM
- stomach: 7.5 nTPM
- colon: 5.4 nTPM
- cervix: 5 nTPM
- skin: 4.5 nTPM
Single-cell type
- cone photoreceptor cells: 1,532 nCPM
- melanocytes: 970 nCPM
- distal convoluted tubule cells: 817 nCPM
- retinal bipolar cells: 702 nCPM
- macrophages: 548 nCPM
- monocytes: 501 nCPM
Immune cell
- basophil: 1.3 nTPM
- plasmacytoid DC: 0.8 nTPM
- myeloid DC: 0.5 nTPM
- classical monocyte: 0.2 nTPM
- MAIT T-cell: 0.2 nTPM
- memory CD4 T-cell: 0.2 nTPM
Brain region
- cerebral cortex: 101 nTPM
- white matter: 62 nTPM
- medulla oblongata: 56 nTPM
- thalamus: 46 nTPM
- choroid plexus: 44 nTPM
- pons: 34 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FMN1.
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 609 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.93
- gnomAD pLI
- 0
- gnomAD missense Z
- -1.53
- DepMap mean gene effect
- 0.15
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Formin, FH2 domain
- Formin, FH2 domain superfamily
- Formin Homology 2 Domain
- Formin homology family, Cappuccino subfamily
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FMN1 as an antibody target. Whether an autoantibody or antibody against FMN1 could matter depends on whether native FMN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FMN1 is annotated at the cell surface, where native FMN1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label FMN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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