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Aliases for SMARCC1 Gene

Aliases for SMARCC1 Gene

  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin Subfamily C Member 1 2 3 5
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily C Member 1 3 4
  • SWI/SNF Complex 155 KDa Subunit 3 4
  • BRG1-Associated Factor 155 3 4
  • BAF155 3 4
  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily C, Member 1 2
  • Mammalian Chromatin Remodeling Complex BRG1-Associated Factor 155 3
  • Chromatin Remodeling Complex BAF155 Subunit 3
  • SWI/SNF Complex Subunit SMARCC1 3
  • CRACC1 3
  • Rsc8 3
  • SRG3 3
  • SWI3 3

External Ids for SMARCC1 Gene

Previous GeneCards Identifiers for SMARCC1 Gene

  • GC03M047432
  • GC03M046832
  • GC03M047587
  • GC03M047602
  • GC03M047626

Summaries for SMARCC1 Gene

Entrez Gene Summary for SMARCC1 Gene

  • The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008]

GeneCards Summary for SMARCC1 Gene

SMARCC1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin Subfamily C Member 1) is a Protein Coding gene. Among its related pathways are AMPK Enzyme Complex Pathway and Transcription Ligand-dependent activation of the ESR1/SP pathway. GO annotations related to this gene include chromatin binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is SMARCC2.

UniProtKB/Swiss-Prot for SMARCC1 Gene

  • Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). May stimulate the ATPase activity of the catalytic subunit of the complex. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).

Gene Wiki entry for SMARCC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMARCC1 Gene

Genomics for SMARCC1 Gene

Regulatory Elements for SMARCC1 Gene

Enhancers for SMARCC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F047280 1.1 FANTOM5 ENCODE 12.7 +498.8 498764 4.7 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 YBX1 SMARCC1 NBEAL2 MRPS18AP1 CCDC12 BOLA2P2 KIF9 KLHL18
GH03F047379 0.7 ENCODE 11 +401.4 401418 3.3 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF589 NME6 MRPS18AP1 NBEAL2 BOLA2P2 SMARCC1 FCF1P2 CCDC12 KLHL18 PTPN23
GH03F047778 0.2 ENCODE 10.8 +1.3 1306 5.2 HDGF PKNOX1 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF589 NME6 CCDC12 MRPS18AP1 BOLA2P2 DHX30 MAP4 FCF1P2 SCAP SMARCC1
GH03F047788 0.9 Ensembl ENCODE 10.5 -7.0 -6957 1.6 HDGF ATF1 PKNOX1 ARNT SIN3A ZNF2 YY1 GTF3C2 ZNF766 ZNF143 NME6 ZNF589 CCDC12 MRPS18AP1 BOLA2P2 TMEM89 SMARCC1 DHX30
GH03F047983 0.7 Ensembl ENCODE 10.1 -202.7 -202685 2.0 PKNOX1 JUN INSM2 KLF17 ZNF2 GTF3C2 POLR3A ZNF600 FOS KLF8 NME6 MRPS18AP1 ZNF589 BOLA2P2 NDUFB1P1 RNU7-128P CDC25A TMEM89 SMARCC1 VPS26BP1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SMARCC1 on UCSC Golden Path with GeneCards custom track

Promoters for SMARCC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001363283 906 3201 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for SMARCC1 Gene

Chromosome:
3
Start:
47,585,272 bp from pter
End:
47,782,106 bp from pter
Size:
196,835 bases
Orientation:
Minus strand

Genomic View for SMARCC1 Gene

Genes around SMARCC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMARCC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMARCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMARCC1 Gene

Proteins for SMARCC1 Gene

  • Protein details for SMARCC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92922-SMRC1_HUMAN
    Recommended name:
    SWI/SNF complex subunit SMARCC1
    Protein Accession:
    Q92922
    Secondary Accessions:
    • Q17RS0
    • Q6P172
    • Q8IWH2

    Protein attributes for SMARCC1 Gene

    Size:
    1105 amino acids
    Molecular mass:
    122867 Da
    Quaternary structure:
    • Component of a number of multiprotein chromatin-remodeling complexes: Swi/Snf-A (BAF), Swi/Snf-B (PBAF), Brm, Brg1(I) and Brg1(II). Each of the complexes contains a catalytic subunit (either SMARCA4 or SMARCA2), and at least SMARCE1, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCC2 and SMARCB1. Other subunits specific to each of the complexes may also be present. Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. May also interact with the SIN3A histone deacetylase transcription repressor complex in conjunction with SMARCA2 and SMARCA4. The minimal complex composed of SMARCC1 and SMARCA4 seems to be able to associate with cyclin such as CCNE1 or transcription factors such as KLF1 or GATA1. Interacts with NR3C1 and SMARD1. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity). Interacts with TRIP12; leading to disrupt interaction between TRIP12 and SMARCE1 and prevent SMARCE1 ubiquitination. Interacts with CEBPB (when not methylated)(PubMed:20111005).
    SequenceCaution:
    • Sequence=AAH39843.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH65253.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SMARCC1 Gene

neXtProt entry for SMARCC1 Gene

Post-translational modifications for SMARCC1 Gene

  • Phosphorylated on undefined residues at the G2/M transition by ERK1 and other kinases. This may contribute to cell cycle specific inactivation of remodeling complexes containing the phosphorylated protein.
  • Ubiquitination at Lys 592, Lys 716, and Lys 948
  • Modification sites at PhosphoSitePlus

Other Protein References for SMARCC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SMARCC1 (SMARCC1)
  • Abcam antibodies for SMARCC1

No data available for DME Specific Peptides for SMARCC1 Gene

Domains & Families for SMARCC1 Gene

Gene Families for SMARCC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q92922

UniProtKB/Swiss-Prot:

SMRC1_HUMAN :
  • Contains 1 SANT domain.
  • Belongs to the SMARCC family.
Domain:
  • Contains 1 SANT domain.
  • Contains 1 SWIRM domain.
Family:
  • Belongs to the SMARCC family.
genes like me logo Genes that share domains with SMARCC1: view

Function for SMARCC1 Gene

Molecular function for SMARCC1 Gene

GENATLAS Biochemistry:
general transcriptional activator S cerevisiae SWI/SNF related protein,matrix associated,actin-dependent regulator of chromatin,subfamily C,member 1,component of the chromatin remodeling complex,ubiquitously expressed
UniProtKB/Swiss-Prot Function:
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). May stimulate the ATPase activity of the catalytic subunit of the complex. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).

Gene Ontology (GO) - Molecular Function for SMARCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 contributes_to RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 16217013
GO:0000980 contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding IDA 16217013
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003713 transcription coactivator activity NAS 8804307
genes like me logo Genes that share ontologies with SMARCC1: view
genes like me logo Genes that share phenotypes with SMARCC1: view

Animal Models for SMARCC1 Gene

MGI Knock Outs for SMARCC1:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMARCC1 Gene

Localization for SMARCC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMARCC1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMARCC1 Gene COMPARTMENTS Subcellular localization image for SMARCC1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for SMARCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 16217013
GO:0001741 XY body IEA --
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with SMARCC1: view

Pathways & Interactions for SMARCC1 Gene

genes like me logo Genes that share pathways with SMARCC1: view

SIGNOR curated interactions for SMARCC1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for SMARCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006337 nucleosome disassembly IDA 8895581
GO:0006338 chromatin remodeling IDA 10078207
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter NAS 8804307
genes like me logo Genes that share ontologies with SMARCC1: view

Transcripts for SMARCC1 Gene

Unigene Clusters for SMARCC1 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMARCC1 Gene

No ASD Table

Relevant External Links for SMARCC1 Gene

GeneLoc Exon Structure for
SMARCC1
ECgene alternative splicing isoforms for
SMARCC1

Expression for SMARCC1 Gene

mRNA expression in normal human tissues for SMARCC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SMARCC1 Gene

This gene is overexpressed in Pancreas (10.2) and Peripheral blood mononuclear cells (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SMARCC1 Gene



Protein tissue co-expression partners for SMARCC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMARCC1 Gene:

SMARCC1

SOURCE GeneReport for Unigene cluster for SMARCC1 Gene:

Hs.476179

mRNA Expression by UniProt/SwissProt for SMARCC1 Gene:

Q92922-SMRC1_HUMAN
Tissue specificity: Expressed in brain, heart, muscle, placenta, lung, liver, muscle, kidney and pancreas.
genes like me logo Genes that share expression patterns with SMARCC1: view

Primer Products

No data available for mRNA differential expression in normal tissues for SMARCC1 Gene

Orthologs for SMARCC1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SMARCC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMARCC1 34 35
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia SMARCC1 34 35
  • 93.4 (n)
cow
(Bos Taurus)
Mammalia SMARCC1 34 35
  • 92.36 (n)
oppossum
(Monodelphis domestica)
Mammalia SMARCC1 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMARCC1 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smarcc1 34 16 35
  • 89.19 (n)
rat
(Rattus norvegicus)
Mammalia Smarcc1 34
  • 89.09 (n)
chicken
(Gallus gallus)
Aves SMARCC1 34 35
  • 79.99 (n)
lizard
(Anolis carolinensis)
Reptilia SMARCC1 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smarcc1 34
  • 73.84 (n)
African clawed frog
(Xenopus laevis)
Amphibia smarcc1-prov 34
zebrafish
(Danio rerio)
Actinopterygii smarcc1a 34 35
  • 68.9 (n)
smarcc1b 35
  • 62 (a)
OneToMany
Dr.12644 34
fruit fly
(Drosophila melanogaster)
Insecta mor 36 35
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea swsn-1 35
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWI3 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.41 35
  • 59 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3259 34
Species where no ortholog for SMARCC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMARCC1 Gene

ENSEMBL:
Gene Tree for SMARCC1 (if available)
TreeFam:
Gene Tree for SMARCC1 (if available)

Paralogs for SMARCC1 Gene

Paralogs for SMARCC1 Gene

(2) SIMAP similar genes for SMARCC1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SMARCC1: view

Variants for SMARCC1 Gene

Sequence variations from dbSNP and Humsavar for SMARCC1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1014228 -- 47,611,149(+) CTGAA(C/T)ATGCA intron-variant
rs1014229 -- 47,611,305(+) TGTTG(C/T)CCAAT intron-variant
rs10440114 -- 47,597,976(+) AAGGG(A/G)AGGTA intron-variant
rs10595577 -- 47,740,702(+) TTGTT(-/AGTG)AGACA intron-variant
rs10627361 -- 47,748,576(+) TATAA(-/CTAA)TAGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMARCC1 Gene

Variant ID Type Subtype PubMed ID
nsv10270 CNV gain 18304495
nsv1116987 CNV deletion 24896259
nsv1160937 CNV duplication 26073780
nsv231 CNV insertion 15895083
nsv237419 CNV deletion 16902084
nsv3807 CNV insertion 18451855
nsv3808 CNV insertion 18451855
nsv428417 CNV loss 18775914
nsv508916 CNV insertion 20534489
nsv590232 CNV loss 21841781
nsv590233 CNV loss 21841781
nsv834679 CNV loss 17160897
nsv967013 CNV duplication 23825009

Variation tolerance for SMARCC1 Gene

Residual Variation Intolerance Score: 17.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.36; 41.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMARCC1 Gene

Human Gene Mutation Database (HGMD)
SMARCC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMARCC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMARCC1 Gene

Disorders for SMARCC1 Gene

Relevant External Links for SMARCC1

Genetic Association Database (GAD)
SMARCC1
Human Genome Epidemiology (HuGE) Navigator
SMARCC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMARCC1

No disorders were found for SMARCC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SMARCC1 Gene

Publications for SMARCC1 Gene

  1. BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation. (PMID: 12917342) Hsiao P.W. … Archer T.K. (Mol. Cell. Biol. 2003) 3 4 22 64
  2. Diversity and specialization of mammalian SWI/SNF complexes. (PMID: 8804307) Wang W. … Crabtree G.R. (Genes Dev. 1996) 2 3 4 64
  3. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PMID: 19367581) So H.C. … Sham P.C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Ubiquitin-dependent and ubiquitin-independent control of subunit stoichiometry in the SWI/SNF complex. (PMID: 20829358) Keppler B.R. … Archer T.K. (J. Biol. Chem. 2010) 3 4 64

Products for SMARCC1 Gene

Sources for SMARCC1 Gene

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