Q2V2M9 (FHOD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 70.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: FH1/FH2 domain-containing protein 3 Alternative name(s): Formactin-2 Formin homolog overexpressed in spleen 2 Short name=hFHOS2 | ||||
| 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 | 1422 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Actin-organizing protein that may cause stress fiber formation together with cell elongation By similarity. Isoform 4 may play a role in actin filament polymerization in cardiomyocytes. Ref.2 |
| Subunit structure | Interacts with nestin/NES-based interfilament (IF) By similarity. Interacts with SQSTM1; isoform 4 threonine phosphorylation disrupts SQSTM1-binding. Ref.2 |
| Subcellular location | Cytoplasm › cytoskeleton. Note: Main part of the protein localizes to actin fibers and the remaining part displays filamentous staining By similarity. Ref.2 Isoform 4: Cytoplasm › myofibril › sarcomere › Z line. Note: Threonine phosphorylation in isoform 4-specific sequence TDTDEEEEVE is required for targeting to myofibrils in cardiomyocytes. Ref.2 |
| Tissue specificity | Expressed in the heart, kidney and brain. May be down-regulated in various types of heart diseases, including idiopathic dilated, ventricular dilated, familial dilated and perinatal dilated cardiomyopathies, as well as ischemic heart disease (at protein level). Ref.1 Ref.2 |
| Domain | The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain. This autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments By similarity. |
| Sequence similarities | Belongs to the formin homology family. Contains 1 DAD (diaphanous autoregulatory) domain. Contains 1 FH1 (formin homology 1) domain. Contains 1 FH2 (formin homology 2) domain. Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain. |
| Sequence caution | The sequence BAB15292.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB15463.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Cytoskeleton |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil |
| Ligand | Actin-binding |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | negative regulation of actin filament polymerization Inferred from electronic annotation. Source: Compara sarcomere organizationInferred from electronic annotation. Source: Compara |
| Cellular_component | Z disc Inferred from electronic annotation. Source: UniProtKB-SubCell cytoplasmInferred from direct assay. Source: HPA cytoskeletonInferred from electronic annotation. Source: UniProtKB-SubCell nucleolusInferred from direct assay. Source: HPA |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| SQSTM1 | Q13501 | 6 | EBI-6395541,EBI-307104 |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q2V2M9-1) 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: Q2V2M9-2) The sequence of this isoform differs from the canonical sequence as follows: 400-437: Missing. 481-481: F → FSRDYLDKREEQRQAREE | ||||||
| Isoform 3 (identifier: Q2V2M9-3) The sequence of this isoform differs from the canonical sequence as follows: 481-481: F → FSRDYLDKREEQRQAREE | ||||||
| Note: Prediction based on ESTs. No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q2V2M9-4) The sequence of this isoform differs from the canonical sequence as follows: 399-399: K → KEEEEEEEQP...YHFRSFSSNR 481-481: F → FSRDYLDKREEQRQAREE 1282-1283: TD → TDTDEEEEVE | ||||||
| Note: Phosphorylated at Thr-1474 and Thr-1476 by CK2. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1422 | 1422 | FH1/FH2 domain-containing protein 3 | PRO_0000283791 | |||||
Regions | |||||||||
| Domain | 18 – 411 | 394 | GBD/FH3 | ||||||
| Domain | 827 – 858 | 32 | FH1 | ||||||
| Domain | 883 – 1279 | 397 | FH2 | ||||||
| Domain | 1359 – 1391 | 33 | DAD | ||||||
| Coiled coil | 448 – 480 | 33 | Potential | ||||||
| Compositional bias | 626 – 635 | 10 | Poly-Ser | ||||||
| Compositional bias | 827 – 872 | 46 | Pro-rich | ||||||
| Compositional bias | 889 – 892 | 4 | Poly-Lys | ||||||
Natural variations | |||||||||
| Alternative sequence | 399 | 1 | K → KEEEEEEEQPITEPSSEEER EDDASCQGKDSKVGAASGQS PTGRDAAPKSSALPAVSNAS SQGKPLLVGTAGGTTWHSGS SGSEATPSALLSPPASAARP SSATPGSLKVSPTIDKLPYV PHSPFHLFSYDFEDSSLSTK EKEAESQKENSSSDSFSLST YSASEPYHFRSFSSNR in isoform 4. | VSP_044682 | |||||
| Alternative sequence | 400 – 437 | 38 | Missing in isoform 2. | VSP_024397 | |||||
| Alternative sequence | 481 | 1 | F → FSRDYLDKREEQRQAREE in isoform 2, isoform 3 and isoform 4. | VSP_024398 | |||||
| Alternative sequence | 1282 – 1283 | 2 | TD → TDTDEEEEVE in isoform 4. | VSP_044683 | |||||
| Natural variant | 475 | 1 | R → W. Corresponds to variant rs9964535 [ dbSNP | Ensembl ]. | VAR_055804 | |||||
Experimental info | |||||||||
| Sequence conflict | 71 | 1 | D → G in BAC67014. Ref.1 | ||||||
| Sequence conflict | 202 | 1 | K → E in ADL62709. Ref.2 | ||||||
| Sequence conflict | 432 | 1 | E → G in ADL62709. Ref.2 | ||||||
| Sequence conflict | 435 | 1 | L → W in BAC67014. Ref.1 | ||||||
| Sequence conflict | 527 | 1 | S → G in ADL62709. Ref.2 | ||||||
| Sequence conflict | 581 | 1 | G → A in ADL62709. Ref.2 | ||||||
| Sequence conflict | 647 | 1 | S → P in ADL62709. Ref.2 | ||||||
| Sequence conflict | 654 | 1 | L → K in BAC87252. Ref.4 | ||||||
| Sequence conflict | 1134 | 1 | V → I in AAH81563. Ref.6 | ||||||
| Sequence conflict | 1417 | 1 | T → A in BAB15463. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Fhos2, a novel formin-related actin-organizing protein, probably associates with the nestin intermediate filament." Kanaya H., Takeya R., Takeuchi K., Watanabe N., Jing N., Sumimoto H. Genes Cells 10:665-678(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. Tissue: Fetal brain. |
| [2] | "Formin follows function: a muscle-specific isoform of FHOD3 is regulated by CK2 phosphorylation and promotes myofibril maintenance." Iskratsch T., Lange S., Dwyer J., Kho A.L., dos Remedios C., Ehler E. J. Cell Biol. 191:1159-1172(2010) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), FUNCTION, INTERACTION WITH SQSTM1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. |
| [3] | "DNA sequence and analysis of human chromosome 18." Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. Lander E.S.Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [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: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-654 AND 906-1422 (ISOFORM 1). Tissue: Small intestine and Testis. |
| [5] | "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O. DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 203-1422 (ISOFORM 2). Tissue: Brain. |
| [6] | "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] OF 895-1422. Tissue: Brain and PNS. |
| [7] | "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] OF 1009-1422. Tissue: Melanoma. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB084087 mRNA. Translation: BAC67014.1. HM191478 mRNA. Translation: ADL62709.1. AC023043 Genomic DNA. No translation available. AC055840 Genomic DNA. No translation available. AC090333 Genomic DNA. No translation available. AC131053 Genomic DNA. No translation available. AK025950 mRNA. Translation: BAB15292.1. Different initiation. AK026370 mRNA. Translation: BAB15463.1. Different initiation. AK128053 mRNA. Translation: BAC87252.1. AB051482 mRNA. Translation: BAB21786.1. BC050670 mRNA. Translation: AAH50670.1. BC081563 mRNA. Translation: AAH81563.1. AL834480 mRNA. Translation: CAD39139.1. |
| IPI | IPI00397675. IPI00843844. IPI00939843. |
| RefSeq | NP_079411.2. NM_025135.2. |
| UniGene | Hs.630884. |
3D structure databases | |
| ProteinModelPortal | Q2V2M9. |
| SMR | Q2V2M9. Positions 2-327, 890-1272. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q2V2M9. 3 interactions. |
| STRING | 9606.ENSP00000257209. |
PTM databases | |
| PhosphoSite | Q2V2M9. |
Polymorphism databases | |
| DMDM | 300669639. |
Proteomic databases | |
| PaxDb | Q2V2M9. |
| PRIDE | Q2V2M9. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000257209; ENSP00000257209; ENSG00000134775. ENST00000359247; ENSP00000352186; ENSG00000134775. ENST00000445677; ENSP00000411430; ENSG00000134775. ENST00000590592; ENSP00000466937; ENSG00000134775. ENST00000592128; ENSP00000467462; ENSG00000134775. |
| GeneID | 80206. |
| KEGG | hsa:80206. |
| UCSC | uc002kzs.1. human. uc002kzt.1. human. uc010dmz.1. human. uc021uiv.1. human. |
Organism-specific databases | |
| CTD | 80206. |
| GeneCards | GC18P033877. |
| H-InvDB | HIX0014410. HIX0174208. |
| HGNC | HGNC:26178. FHOD3. |
| HPA | HPA021827. HPA024696. |
| MIM | 609691. gene. |
| neXtProt | NX_Q2V2M9. |
| PharmGKB | PA134929910. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG246341. |
| HOVERGEN | HBG051615. |
| OMA | PNDKVPE. |
Gene expression databases | |
| Bgee | Q2V2M9. |
| CleanEx | HS_FHOD3. |
| Genevestigator | Q2V2M9. |
Family and domain databases | |
| InterPro | IPR003104. Actin-bd_FH2/DRF_autoreg. IPR016024. ARM-type_fold. IPR014767. Diaphanous_autoregulatory. IPR015425. FH2_actin-bd. IPR014768. GTPase-bd/formin_homology_3. [Graphical view] |
| Pfam | PF02181. FH2. 1 hit. [Graphical view] |
| SMART | SM00498. FH2. 1 hit. [Graphical view] |
| SUPFAM | SSF48371. ARM-type_fold. 1 hit. SSF101447. FH2_actin_bd. 1 hit. |
| PROSITE | PS51231. DAD. 1 hit. PS51444. FH2. 1 hit. PS51232. GBD_FH3. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | FHOD3. human. |
| GenomeRNAi | 80206. |
| NextBio | 35497575. |
| SOURCE | Search... |
Entry information
| Entry name | FHOD3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q2V2M9 Secondary accession number(s): A8MQT4 Q9H6G7 | ||||||||
| Entry history |
| ||||||||
| 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 18 Human chromosome 18: 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
