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Q68DA7 (FMN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 81. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Formin-1
Alternative name(s):
Limb deformity protein homolog
Gene names
Name:FMN1
Synonyms:FMN, LD
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1419 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Plays a role in the formation of adherens junction and the polymerization of linear actin cables By similarity.

Subunit structure

Interacts with alpha-catenin and may interact with tubulin By similarity.

Subcellular location

Nucleus By similarity. Cytoplasm By similarity. Cell junctionadherens junction By similarity. Cell membrane; Peripheral membrane protein; Cytoplasmic side By similarity. Note: Localization to the adherens junctions is alpha-catenin-dependent. Also localizes to F-actin bundles originating from adherens junctions and to microtubules By similarity.

Developmental stage

Expressed in fetal kidney and fetal lung. Ref.5

Post-translational modification

Phosphorylated on serine and possibly threonine residues By similarity.

Sequence similarities

Belongs to the formin homology family. Cappuccino subfamily.

Contains 1 FH1 (formin homology 1) domain.

Contains 1 FH2 (formin homology 2) domain.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q68DA7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q68DA7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     623-662: GISSEGFPWD...GYRAGPACPF → AFHWDLQQHF...AGKGKESRSG
     663-1419: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q68DA7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-680: Missing.
     681-681: H → MENVDNSLDG...PADGPSDSKS
     721-726: EYQAAI → GNVKGS
     727-1419: Missing.
Isoform 5 (identifier: Q68DA7-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-680: Missing.
     681-681: H → MENVDNSLDG...PADGPSDSKS

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 14191419Formin-1
PRO_0000296361

Regions

Domain870 – 95788FH1
Domain972 – 1388417FH2
Region1 – 622622Microtubule-binding By similarity
Region456 – 842387Mediates interaction with alpha-catenin By similarity
Coiled coil720 – 77455 Potential
Compositional bias869 – 984116Pro-rich

Amino acid modifications

Modified residue2351Phosphoserine By similarity

Natural variations

Alternative sequence1 – 680680Missing in isoform 3 and isoform 5.
VSP_027208
Alternative sequence623 – 66240GISSE…PACPF → AFHWDLQQHFQEPVIRTVSI SCASNLIKEEAGKGKESRSG in isoform 2.
VSP_027209
Alternative sequence663 – 1419757Missing in isoform 2.
VSP_027210
Alternative sequence6811H → MENVDNSLDGSDVSEPAKPE AGLEVAQSILSKFSMKSLFG FTSKLESVNPEEEDAVLKAF HSLDVNPTSQQDDSSNGLDP QEAGSRVSPDLGNDEKIASV ETESEGSQRKEAGTSLLAQE LLPLSTLKGTKDDVICVRGT LVHTTSDSDSDDGGQEPEEG SSTNGPKSPSGVLSEPSQES KENPGGFRENTVTGEMNGAE LCAEDPQRIPPEMSSKLEAG NGGLQTERRPSQDQVGEEGS QDLPAVTNQNSSVGITESAS SKKEVSGEKSFQLPAFFSGL RVLKKGATAEGGETITEIKP KDGDLALLKLTQPVQKSLVQ AGLQTVKSEKKATDPKATPT LLEQLSLLLNIDMPKTEPKG ADPESPRREEMGCNADQESQ SGPGVPQTQGGEVKPKSPET ALEAFKALFIRPPRKGTTAD TSELEALKRKMRHEKESLRA VFERSNSKPADGPSDSKS in isoform 3 and isoform 5.
VSP_027211
Alternative sequence721 – 7266EYQAAI → GNVKGS in isoform 3.
VSP_027212
Alternative sequence727 – 1419693Missing in isoform 3.
VSP_027213
Natural variant6861L → P. Ref.3 Ref.4
Corresponds to variant rs2306277 [ dbSNP | Ensembl ].
VAR_034630

Experimental info

Sequence conflict571S → A in CAH18313. Ref.1
Sequence conflict2211L → P in CAH18313. Ref.1
Isoform 3:
Sequence conflict1711G → V in AAI03693. Ref.3
Sequence conflict1711G → V in AAI07594. Ref.3
Sequence conflict2391G → E in AAI07594. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 5, 2011. Version 3.
Checksum: 6ED2783FC8151A43

FASTA1,419157,578
        10         20         30         40         50         60 
MEGTHCTLQL HKPITELCYI SFCLPKGEVR GFSYKGTVTL DRSNKGFHNC YQVREESDII 

        70         80         90        100        110        120 
SLSQEPDEHP GDIFFKQTPT KDILTELYKL TTERERLLTN LLSSDHILGI TMGNQEGKLQ 

       130        140        150        160        170        180 
ELSVSLAPED DCFQSAGDWQ GELPVGPLNK RSTHGNKKPR RSSGRRESFG ALPQKRTKRK 

       190        200        210        220        230        240 
GRGGRESAPL MGKDKICSSH SLPLSRTRPN LWVLEEKGNL LPNGALACSL QRRESCPPDI 

       250        260        270        280        290        300 
PKTPDTDLGF GSFETAFKDT GLGREVLPPD CSSTEAGGDG IRRPPSGLEH QQTGLSESHQ 

       310        320        330        340        350        360 
DPEKHPEAEK DEMEKPAKRT CKQKPVSKVV AKVQDLSSQV QRVVKTHSKG KETIAIRPAA 

       370        380        390        400        410        420 
HAEFVPKADL LTLPGAEAGA HGSRRQGKER QGDRSSQSPA GETASISSVS ASAEGAVNKV 

       430        440        450        460        470        480 
PLKVIESEKL DEAPEGKRLG FPVHTSVPHT RPETRNKRRA GLPLGGHKSL FLDLPHKVGP 

       490        500        510        520        530        540 
DSSQPRGDKK KPSPPAPAAL GKVFNNSASQ SSTHKQTSPV PSPLSPRLPS PQQHHRILRL 

       550        560        570        580        590        600 
PALPGEREAA LNDSPCRKSR VFSGCVSADT LEPPSSAKVT ETKGASPAFL RAGQPRLVPG 

       610        620        630        640        650        660 
ETLEKSLGPG KTTAEPQHQS PPGISSEGFP WDGFNEQTPK DLPNRDGGAW VLGYRAGPAC 

       670        680        690        700        710        720 
PFLLHEEREK SNRSELYLDL HPDHSLTEQD DRTPGRLQAV WPPPKTKDTE EKVGLKYTEA 

       730        740        750        760        770        780 
EYQAAILHLK REHKEEIENL QAQFELRAFH IRGEHAMITA RLEETIENLK HELEHRWRGG 

       790        800        810        820        830        840 
CEERKDVCIS TDDDCPPKTF RNVCVQTDRE TFLKPCESES KTTRSNQLVP KKLNISSLSQ 

       850        860        870        880        890        900 
LSPPNDHKDI HAALQPMEGM ASNQQKALPP PPASIPPPPP LPSGLGSLSP APPMPPVSAG 

       910        920        930        940        950        960 
PPLPPPPPPP PPLPPPSSAG PPPPPPPPPL PNSPAPPNPG GPPPAPPPPG LAPPPPPGLF 

       970        980        990       1000       1010       1020 
FGLGSSSSQC PRKPAIEPSC PMKPLYWTRI QISDRSQNAT PTLWDSLEEP DIRDPSEFEY 

      1030       1040       1050       1060       1070       1080 
LFSKDTTQQK KKPLSETYEK KNKVKKIIKL LDGKRSQTVG ILISSLHLEM KDIQQAIFNV 

      1090       1100       1110       1120       1130       1140 
DDSVVDLETL AALYENRAQE DELVKIRKYY ETSKEEELKL LDKPEQFLHE LAQIPNFAER 

      1150       1160       1170       1180       1190       1200 
AQCIIFRSVF SEGITSLHRK VEIITRASKD LLHVKSVKDI LALILAFGNY MNGGNRTRGQ 

      1210       1220       1230       1240       1250       1260 
ADGYSLEILP KLKDVKSRDN GINLVDYVVK YYLRYYDQEA GTEKSVFPLP EPQDFFLASQ 

      1270       1280       1290       1300       1310       1320 
VKFEDLIKDL RKLKRQLEAS EKQMVVVCKE SPKEYLQPFK DKLEEFFQKA KKEHKMEESH 

      1330       1340       1350       1360       1370       1380 
LENAQKSFET TVRYFGMKPK SGEKEITPSY VFMVWYEFCS DFKTIWKRES KNISKERLKM 

      1390       1400       1410 
AQESVSKLTS EKKVETKKIN PTASLKERLR QKEASVTTN 

« Hide

Isoform 2 [UniParc].

Checksum: C119E228B5F717DE
Show »

FASTA66271,892
Isoform 3 [UniParc].

Checksum: 0636873ED8470DF0
Show »

FASTA50353,619
Isoform 5 [UniParc].

Checksum: 29D19AC2C4245CD9
Show »

FASTA1,196132,156

References

« Hide 'large scale' references
[1]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Retina.
[2]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT PRO-686.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), VARIANT PRO-686.
Tissue: Brain.
[5]"A human gene homologous to the formin gene residing at the murine limb deformity locus: chromosomal location and RFLPs."
Maas R.L., Jepeal L.I., Elfering S.L., Holcombe R.F., Morton C.C., Eddy R.L., Byers M.G., Shows T.B., Leder P.
Am. J. Hum. Genet. 48:687-695(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION, DEVELOPMENTAL STAGE.
[6]"Identification and characterization of the human FMN1 gene in silico."
Katoh M., Katoh M.
Int. J. Mol. Med. 14:121-126(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
CR749487 mRNA. Translation: CAH18313.1.
AC090098 Genomic DNA. No translation available.
AC090877 Genomic DNA. No translation available.
AC090982 Genomic DNA. No translation available.
AC018515 Genomic DNA. No translation available.
AC019278 Genomic DNA. No translation available.
BC103692 mRNA. Translation: AAI03693.1.
BC107593 mRNA. Translation: AAI07594.1.
AK127078 mRNA. No translation available.
RefSeqNP_001096654.1. NM_001103184.3.
NP_001264242.1. NM_001277313.1.
NP_001264243.1. NM_001277314.1.
UniGeneHs.657649.

3D structure databases

ProteinModelPortalQ68DA7.
SMRQ68DA7. Positions 973-1399.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid131167. 1 interaction.
IntActQ68DA7. 1 interaction.
STRING9606.ENSP00000333950.

PTM databases

PhosphoSiteQ68DA7.

Polymorphism databases

DMDM327478585.

Proteomic databases

PaxDbQ68DA7.
PRIDEQ68DA7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000320930; ENSP00000325166; ENSG00000248905. [Q68DA7-2]
ENST00000334528; ENSP00000333950; ENSG00000248905. [Q68DA7-5]
ENST00000558197; ENSP00000452984; ENSG00000248905. [Q68DA7-3]
ENST00000559047; ENSP00000454047; ENSG00000248905. [Q68DA7-1]
GeneID342184.
KEGGhsa:342184.
UCSCuc001zhf.5. human. [Q68DA7-5]
uc001zhg.3. human. [Q68DA7-3]
uc001zhh.4. human. [Q68DA7-2]
uc031qrh.1. human. [Q68DA7-1]

Organism-specific databases

CTD342184.
GeneCardsGC15M033059.
H-InvDBHIX0012079.
HGNCHGNC:3768. FMN1.
HPAHPA005465.
HPA046786.
MIM136535. gene.
neXtProtNX_Q68DA7.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG149898.
HOGENOMHOG000112617.
HOVERGENHBG107922.
KOK10367.
OMADSKSPDH.
OrthoDBEOG78M01H.
PhylomeDBQ68DA7.
TreeFamTF326072.

Gene expression databases

ArrayExpressQ68DA7.
BgeeQ68DA7.
CleanExHS_FMN1.
GenevestigatorQ68DA7.

Family and domain databases

InterProIPR015425. FH2_Formin.
IPR001265. Formin_Cappuccino_subfam.
[Graphical view]
PfamPF02181. FH2. 1 hit.
[Graphical view]
PRINTSPR00828. FORMIN.
SMARTSM00498. FH2. 1 hit.
[Graphical view]
PROSITEPS51444. FH2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi342184.
NextBio98243.
PROQ68DA7.
SOURCESearch...

Entry information

Entry nameFMN1_HUMAN
AccessionPrimary (citable) accession number: Q68DA7
Secondary accession number(s): Q3B7I6, Q3ZAR4, Q6ZSY1
Entry history
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: April 5, 2011
Last modified: April 16, 2014
This is version 81 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM