Q68DA7 (FMN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 71.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Formin-1 Alternative name(s): Limb deformity protein homolog | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1419 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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 junction › adherens 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. |
Ontologies
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1419 | 1419 | Formin-1 | PRO_0000296361 | |||||
Regions | |||||||||
| Domain | 870 – 957 | 88 | FH1 | ||||||
| Domain | 972 – 1388 | 417 | FH2 | ||||||
| Region | 1 – 622 | 622 | Microtubule-binding By similarity | ||||||
| Region | 456 – 842 | 387 | Mediates interaction with alpha-catenin By similarity | ||||||
| Coiled coil | 720 – 774 | 55 | Potential | ||||||
| Compositional bias | 869 – 984 | 116 | Pro-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 235 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 680 | 680 | Missing in isoform 3 and isoform 5. | VSP_027208 | |||||
| Alternative sequence | 623 – 662 | 40 | GISSE…PACPF → AFHWDLQQHFQEPVIRTVSI SCASNLIKEEAGKGKESRSG in isoform 2. | VSP_027209 | |||||
| Alternative sequence | 663 – 1419 | 757 | Missing in isoform 2. | VSP_027210 | |||||
| Alternative sequence | 681 | 1 | H → 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 sequence | 721 – 726 | 6 | EYQAAI → GNVKGS in isoform 3. | VSP_027212 | |||||
| Alternative sequence | 727 – 1419 | 693 | Missing in isoform 3. | VSP_027213 | |||||
| Natural variant | 686 | 1 | L → P. Ref.3 Ref.4 Corresponds to variant rs2306277 [ dbSNP | Ensembl ]. | VAR_034630 | |||||
Experimental info | |||||||||
| Sequence conflict | 57 | 1 | S → A in CAH18313. Ref.1 | ||||||
| Sequence conflict | 221 | 1 | L → P in CAH18313. Ref.1 | ||||||
| Isoform 3: | |||||||||
| Sequence conflict | 171 | 1 | G → V in AAI03693. Ref.3 | ||||||
| Sequence conflict | 171 | 1 | G → V in AAI07594. Ref.3 | ||||||
| Sequence conflict | 239 | 1 | G → E in AAI07594. Ref.3 | ||||||
Sequences
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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. 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. 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. |
| IPI | IPI00470874. IPI00740336. IPI00854651. IPI00889693. |
| RefSeq | NP_001096654.1. NM_001103184.2. XP_003959994.1. XM_003959945.1. XP_003960634.1. XM_003960585.1. XP_003960927.1. XM_003960878.1. |
| UniGene | Hs.657649. |
3D structure databases | |
| ProteinModelPortal | Q68DA7. |
| SMR | Q68DA7. Positions 973-1399. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q68DA7. 1 interaction. |
| STRING | 9606.ENSP00000333950. |
PTM databases | |
| PhosphoSite | Q68DA7. |
Polymorphism databases | |
| DMDM | 158564317. |
Proteomic databases | |
| PaxDb | Q68DA7. |
| PRIDE | Q68DA7. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000320930; ENSP00000325166; ENSG00000248905. ENST00000334528; ENSP00000333950; ENSG00000248905. ENST00000558197; ENSP00000452984; ENSG00000248905. ENST00000559047; ENSP00000454047; ENSG00000248905. |
| GeneID | 101059984. 342184. |
| KEGG | hsa:101059984. hsa:342184. |
| UCSC | uc001zhf.4. human. uc001zhg.2. human. |
Organism-specific databases | |
| CTD | 342184. |
| GeneCards | GC15M033059. |
| H-InvDB | HIX0012079. |
| HGNC | HGNC:3768. FMN1. |
| HPA | HPA005465. HPA046786. |
| MIM | 136535. gene. |
| neXtProt | NX_Q68DA7. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG149898. |
| HOGENOM | HOG000112617. |
| HOVERGEN | HBG107922. |
| KO | K10367. |
| OMA | DSKSPDH. |
| OrthoDB | EOG4KWJSD. |
Gene expression databases | |
| ArrayExpress | Q68DA7. |
| Bgee | Q68DA7. |
| CleanEx | HS_FMN1. |
| Genevestigator | Q68DA7. |
Family and domain databases | |
| InterPro | IPR003104. Actin-bd_FH2/DRF_autoreg. IPR015425. FH2_actin-bd. IPR001265. Formin. [Graphical view] |
| Pfam | PF02181. FH2. 1 hit. [Graphical view] |
| PRINTS | PR00828. FORMIN. |
| SMART | SM00498. FH2. 1 hit. [Graphical view] |
| SUPFAM | SSF101447. FH2_actin_bd. 1 hit. |
| PROSITE | PS51444. FH2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 98243. |
| SOURCE | Search... |
Entry information
| Entry name | FMN1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q68DA7 Secondary accession number(s): Q3B7I6, Q3ZAR4, Q6ZSY1 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 15 Human chromosome 15: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
