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Gene Dmel\ash1

General Information
Symbol	Dmel\ash1	Species	D. melanogaster
Name	absent, small, or homeotic discs 1	Annotation symbol	CG8887
Feature type	protein_coding_gene	FlyBase ID	FBgn0005386
Created / Updated	2003-12-01/2003-12-01
Genomic Location
Chromosome (arm)	3L	Recombination map	3-46.6
Cytogenetic map	76B8-76B9	Sequence location	3L:19,584,402..19,591,848 [-]
Map ( GBrowse )	Decorated FastA GenBankGFF Gene region Extended Gene region CDSIntronsExonsTranslationsTranscripts3' UTR5' UTR
Summary Information
Automatically generated summary See sections below for more information	The gene absent, small, or homeotic discs 1 is referred to in FlyBase by the symbol ash1 (CG8887, FBgn0005386). It has the cytological map location 76B8-76B9. Its sequence location is 3L:19584402..19591848. Its molecular function is described as: histone methyltransferase activity; histone lysine N-methyltransferase activity (H3-K4 specific); histone lysine N-methyltransferase activity (H3-K9 specific); histone lysine N-methyltransferase activity (H4-K20 specific); single-stranded RNA binding; DNA binding; protein binding; zinc ion binding. It is involved in the biological processes: embryonic development via the syncytial blastoderm; oviposition; chromatin-mediated maintenance of transcription; histone methylation; oogenesis; regulation of transcription. 42 alleles are reported. The phenotypes of these alleles are annotated with: ovary; wing; haltere; imaginal disc; metathoracic segment; dorsal metathoracic disc; abdominal segment 2; abdominal segment 7; abdominal segment 6; embryonic heart. It has one annotated transcript and one annotated polypeptide.
External Summaries
Phenotypic Description from the Red Book (Lindsley & Zimm 1992)
Gene/Allele symbols may differ from current usage	ash1: absent, small, or homeotic discs Most alleles homozygous lethal; stage of lethality variable. Surviving and pharate adults display transformations including haltere to wing, first and third legs to second leg, genitalia to leg or antenna; ash18 and ash110 show transformation of posterior to anterior wing margin. Homeotic transformations also seen in clones of homozygous cells in otherwise heterozygous flies. Larvae homozygous for ash112, a severe allele, displays a high incidence of failure to form imaginal disks, especially antennal, genital, haltere, and wing disks. dash: discs absent, small, or homeotic (A. Shearn) Homozygotes lethal at prepupal-pupal stage; imaginal discs described as homeotic, with the second leg and the wing discs described as like engrailed. Disc and cell autonomous.
Detailed Mapping Data
FlyBase Computed Cytological Location
Cytogenetic map Evidence for location 76B8-76B9   Limits computationally determined from genome sequence between P{EP}MESR6EP3142 and P{lacW}l(3)L3809L3809
Experimentally Determined Cytological Location
Cytogenetic map Notes References 76B5-76B9 (determined by in situ hybridisation)   (Tripoulas and Shearn, 1990)
Experimentally Determined Recombination Data
Location	3-46.6
Left of (cM)
Right of (cM)
Notes
Molecular Map Data
Gene Order (in direction of increasing cytology) References Gene Order (overall orientation not stated) References Overall orientation not stated: ash1- lush- (Kim et al., 1998)
Gene Model & Products
Please see the GBrowse view of Dmel\ash1 for information on other features
Comments on Gene Model
	EST data support existence of multiple transcripts
Transcript Data
Annotated Transcripts
Name FlyBase ID RefSeq ID Length (nt) Associated CDS (aa) ash1-RA FBtr0074970  NM_079436   7053   2217
Additional Transcript Data & Comments
Reported size (kB)	7.5 (northern blot) (Tripoulas et al., 1994)
Comments
External Data
Crossreferences
Polypeptide Data
Annotated Polypeptides
Name FlyBase ID Predicted MW (kD) Length (aa) Theoretical pI RefSeq ID GenBank protein ash1-PA   FBpp0074738   245.7   2217   10.27     NP_524160   AAF49140
Additional Polypeptide Data & Comments
Reported size (kD)	270 (kD observed) (Papoulas et al., 1998)
Comments
External Data
Linkouts	PANTHER - Protein classification by function, families, and pathways • FBgn0005386
Crossreferences	InterPro domains - A database of protein families, domains, and functional sites • HMG-I and HMG-Y, DNA-binding (IPR000637) Bromo adjacent region (IPR001025) SET (IPR001214) Zinc finger, PHD-type (IPR001965) Post-SET zinc-binding region (IPR003616) AWS (IPR006560) Zinc finger, RING/FYVE/PHD-type (IPR013083) Zinc finger, FYVE/PHD-type (IPR011011)
Sequences Consistent with the Gene Model
DDBJ / EMBL / GenBank	DNA sequence Protein sequence Name AA140640   AA392437   AA392490   AA696266   AE003516 AAF49140   AY122246   BI641808   BI641815   BQ102919   BT031135   CK605064   CK657080   CO311496   EC195843   EC205994   EC242026   EC248225   EL874606   EL874678   U49439 AAB01100
UniProtKB/Swiss-Prot
UniProtKB/TrEMBL	Q9VW15
Maps to
Does NOT map to
Identified with
Mapped Features & Mutations
Please see GBrowse or insertion reports for information on insertions of transgenic constructs and features not listed here Type Symbol & Location Additional Notes References aberration junction T(1;3)ash1[27].bk2 3L:19,583,433..19,585,967 comment=Breakpoint falls within this restriction fragment. evidence=experimental linked_to=EcoRI-EcoRI_rfrag (Tripoulas et al., 1994) aberration junction In(3L)ash1[29].bk1 3L:19,585,589..19,585,589 comment=Inversion breakpoint reported to be at nucleotide 6453. evidence=experimental (Tripoulas et al., 1996) point mutation ash1[22] 3L:19,590,887..19,590,887 evidence=experimental na_change=C19563046T pr_change=Q121@|ash1-PA reported_na_change=C1155T reported_pr_change=Q47@ (Tripoulas et al., 1996) point mutation ash1[21] 3L:19,587,179..19,587,179 evidence=experimental na_change=G19559338A pr_change=E1357K|ash1-PA reported_na_change=G4863A reported_pr_change=E1357K|FBrf0151694,E1284K|FBrf0087750 (Tripoulas et al., 1996, Beisel et al., 2002) point mutation ash1[10] 3L:19,586,875..19,586,875 evidence=experimental pr_change=N1458I|ash1-PA reported_na_change=A5167T reported_pr_change=N1458I|FBrf0151694,N1385I|FBrf0087750 na_change=A19586875T (Tripoulas et al., 1996, Beisel et al., 2002) point mutation ash1[14] 3L:19,584,916..19,584,916 comment=T to A alteration in consensus splice donor site. evidence=experimental na_change=T19557075A reported_na_change=T7127A (Tripoulas et al., 1996) point mutation ash1[16] 3L:19,584,859..19,584,859 evidence=experimental na_change=G19557018A reported_na_change=G7184A (Tripoulas et al., 1996)
External Data
Linkouts	DEDB - Drosophila exon database: splicing graphs • 3555
Crossreferences
Expression Data
FlyBase-Curated Data
Transcript and Protein data	Please see the FlyBase Gene Expression Report for details of gene expression from the literature.
Summary of Transcript Expression
Stage Tissue/Position Reference  oogenesis stage,adult stage  nurse cell (Tripoulas et al., 1994)  embryonic stage | early   (Tripoulas et al., 1994)  embryonic stage-adult stage   (Tripoulas et al., 1994)  larval stage | third instar  imaginal disc (Tripoulas et al., 1994)
Marker for
Subcellular Localization
CV Term
Summary of Polypeptide Expression
Stage Tissue/Position Reference
Marker for
Subcellular Localization
CV Term
Microarray Data
	Developmental timecourse, Costello et al., 2008 (Original data from Arbeitman et al., 2002) AI532274
External Data & Images
Linkouts	FLIGHT - Cell culture data for RNAi and other high-throughput technologies • FBgn0005386 FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array • FBgn0005386 GEO (NCBI) - Gene expression data: microarray and other high-throughput technologies • FBgn0005386 FlyExpress - Embryonic expression images (BDGP data) • Show all FlyExpress processed images for ash1 Stage(s) 1-3 Stage(s) 4-6 Stage(s) 7-8 Stage(s) 13-16
Alleles & Phenotypes
Summary of Allele Phenotypes
Lethality Allele lethal | recessive ash110 ash111 ash112 ash113 ash114 ash115 ash116 ash117 ash118 ash119 ash11 ash120 ash121 ash122 ash123 ash124 ash125 ash126 ash127 ash128 ash129 ash12 ash130 ash131 ash13 ash14 ash15 ash16 ash17 ash18 ash19 lethal | recessive | conditional - heat sensitive ash111 ash114 lethal | recessive, with Tn10\tetR[-]: ash1PdL11A3 lethal | conditional - heat sensitive ash116 lethal | larval stage | recessive ash111 ash117 ash14 ash15 ash16 ash19 lethal | prepupal stage | recessive ash129 lethal | pupal stage | recessive ash110 ash121 ash12 lethal | pharate adult stage | recessive ash110 ash13 lethal, with Tn10\tetRAct5C.T:Hsim\VP16 ash1PdL11A3 Other Phenotypes Allele visible | dominant | homeotic ash1B1 visible | homeotic ash110 ash11 non-enhancer of variegation, with P{hsp26-pt-T}39C-5 ash16 ash1B1 non-enhancer of variegation, with P{hsp26-pt-T}39C-27 ash16 ash1B1 suppressor of variegation | dominant | female limited, with P{hsp26-pt-T}39C-31 ash16 ash1B1 suppressor of variegation | dominant, with P{wA}4-4 ash16 ash1B1 non-suppressor of variegation, with P{hsp26-pt-T}39C-5 ash16 ash1B1 non-suppressor of variegation, with P{hsp26-pt-T}39C-27 ash16 ash1B1 short lived, with Tn10\tetRAct5C.T:Hsim\VP16 ash1PdL11A3 Phenotype manifest in Allele ovary | conditional - heat sensitive (with ash114) ash11 ash128 wing ash11 ash110 ash18 haltere ash11 wing | ectopic ash11 imaginal disc ash112 ovary | conditional - heat sensitive (with ash128) ash114 ovary | conditional - heat sensitive (with ash11) ash114 metathoracic segment | conditional - heat sensitive ash114 dorsal metathoracic disc ash122 abdominal segment 2 (with ash127) ash125 abdominal segment 7 | male (with ash127) ash125 abdominal segment 2 (with ash125) ash127 abdominal segment 7 | male (with ash125) ash127 abdominal segment 6 ash1B1 embryonic heart ash1dsRNA.cKa ash1dsRNA.si.cKa
Classical Alleles ( 35 )
For All Classical Alleles Show
Allele of ash1 Class Mutagen Stocks Known lesion ash110 hypomorph ethyl methanesulfonate 0 Yes ash111 hypomorph γ ray 0 -- ash112 γ ray 0 -- ash113 ethyl methanesulfonate 0 -- ash114 hypomorph ethyl methanesulfonate 0 -- ash115 ethyl methanesulfonate 0 -- ash116 hypomorph ethyl methanesulfonate 0 -- ash117 antimorph ethyl methanesulfonate 0 Yes ash118 ethyl methanesulfonate 0 -- ash119 ethyl methanesulfonate 0 -- ash11 hypomorph ICR 170 0 Yes ash120 ethyl methanesulfonate 0 -- ash121 hypomorph ethyl methanesulfonate 0 Yes ash122 amorph ethyl methanesulfonate 1 -- ash123 ethyl methanesulfonate 0 -- ash124 ethyl methanesulfonate 0 -- ash125 PM hybrid dysgenesis 0 Yes ash126 PM hybrid dysgenesis 0 -- ash127 γ ray 0 Yes ash128 hypomorph γ ray 0 Yes ash129 hypomorph γ ray 0 Yes ash12 ICR 170 0 -- ash130 γ ray 0 -- ash131 γ ray 0 -- ash13 ethyl methanesulfonate 0 -- ash14 antimorph ethyl methanesulfonate 0 -- ash15 ethyl methanesulfonate 0 -- ash16 amorph ethyl methanesulfonate 0 -- ash17 ethyl methanesulfonate 0 -- ash18 ethyl methanesulfonate 0 -- ash19 ethyl methanesulfonate 0 -- ash1B1 hypomorph 2 -- ash1MB03235 1 -- ash1PdL11A3 P-element activity 0 Yes ash1unspecified 0 --
Alleles Carried on Transgenic Constructs ( 7 )
For All Alleles Carried on Transgenic Constructs Show
Allele of ash1 Class Mutagen Stocks Known lesion ash1GD14059 in vitro construct | RNAi in vitro construct | regulatory fusion 1 Yes ash1dsRNA.cGa in vitro construct | RNAi 0 Yes ash1dsRNA.cKa in vitro construct | RNAi 0 Yes ash1dsRNA.si.cKa in vitro construct | RNAi 0 Yes ash1ΔN.10.T:Scer\GAL4 in vitro construct | coding region fusion in vitro construct | amino acid replacement 0 Yes ash1ΔN.21.T:Scer\GAL4 in vitro construct | coding region fusion in vitro construct | amino acid replacement 0 Yes ash1ΔN.T:Scer\GAL4 in vitro construct | coding region fusion 0 Yes
Aneuploid Aberrations
Useful deficiency	Df(3L)XS705   Df(3L)kto2
Disrupted in	Df(3L)BSC417 (Christensen et al., 2008.4.15) Df(3L)Exel9007 (Ryder, 2004.4.26) Df(3L)Exel9008 (Ryder, 2004.4.26) Df(3L)Exel9009 (Ryder, 2004.4.26) Df(3L)Exel9011 (Ryder, 2004.4.26) Df(3L)ash1A16 (Sen et al., 1998) Df(3L)kto2 (Sen et al., 1998, Bantignies et al., 2000, LaJeunesse and Shearn, 1995, Veraksa and McGinnis, 1996, Gross and McGinnis, 1996) Df(3L)pipeA13 (Sen et al., 1998) In(3L)ash129 (Tripoulas et al., 1996) T(1;3)ash127 (Tripoulas et al., 1994)
Transgenic Constructs & Insertions
Transgenic Constructs
	Type of construct Name Expression data UAS construct P{GD14059} NA
Insertions
	Type of insertions Name Expression data miscellaneous insertions P{}ash125 NA P{}ash126 NA insertion of enhancer trap binary system Mi{ET1}ash1MB03235 No insertion of mobile activating element P{PdL}ash1PdL11A3 NA
Related Comments
	Please look at the allele reports for the complete phenotype data Most alleles homozygous lethal; stage of lethality variable. Surviving and pharate adults display transformations including haltere to wing, first and third legs to second leg, genitalia to leg or antenna;   Genetic tests were used to confirm that ash1 and ash2 belong to a functionally related class of genes, mutations in which cause a wide variety of homeotic transformations that are similar to the transformations caused by trx. Double heterozygotes of ash1 alleles and Df(3R)red-P93 show a significant penetrance of homeotic transformations. Heterozygosity of ash1 alleles increases the penetrance of homeotic transformations in progeny derived from fs(1)h1 hemizygous mothers: the increase in penetrance is proportional to the loss of ash1 function. (Shearn, 1989) ash1 mutant larvae may have small or absent imaginal discs or express homeotic transformations. ash1 has been isolated and characterised. (Tripoulas and Shearn, 1990) The intensity of trx binding to larval salivary gland polytene chromosomes is strongly decreased in larvae carrying mutations in ash1. (Kuzin et al., 1994) Sections of the Scr regulatory region may be important for regulation of Scr by Polycomb- and trithorax-group genes. (Gindhart and Kaufman, 1995) ash1 and ash2 are trans-regulatory elements of homeotic selector gene regulation. ash1 is required for the functioning of the Ubx ABX/BX enhancer element, regulation involves different cis-regulatory regions that than of ash1. (LaJeunesse and Shearn, 1995)
Gene Ontology: Function, Process & Cellular Component ( 16 )
Molecular Function
CV term Evidence References
DNA binding inferred from electronic annotation with InterPro:IPR001025 (FlyBase Curators et al., 2004-)
histone lysine N-methyltransferase activity (H3-K4 specific) inferred from direct assay AND inferred from mutant phenotype (Byrd, 2003) non-traceable author statement (Marmorstein, 2003) traceable author statement (Simms et al., 2003)
histone lysine N-methyltransferase activity (H3-K9 specific) non-traceable author statement (Marmorstein, 2003) traceable author statement (Simms et al., 2003)
histone lysine N-methyltransferase activity (H4-K20 specific) non-traceable author statement (Marmorstein, 2003) traceable author statement (Simms et al., 2003)
histone methyltransferase activity inferred from direct assay (Beisel et al., 2002) inferred from sequence or structural similarity with SGD_LOCUS:SET1; SGD:S0001161 (Marmorstein, 2003)
protein binding inferred from electronic annotation with InterPro:IPR001965 (FlyBase Curators et al., 2004-)
single-stranded RNA binding inferred from direct assay (Sanchez-Elsner et al., 2006)
zinc ion binding inferred from electronic annotation with InterPro:IPR001965, InterPro:IPR011011 (FlyBase Curators et al., 2004-)
Biological Process
CV term Evidence References
chromatin-mediated maintenance of transcription inferred from mutant phenotype (LaJeunesse and Shearn, 1995)
embryonic development via the syncytial blastoderm inferred from mutant phenotype (Tripoulas et al., 1994)
histone methylation inferred from sequence or structural similarity with SGD_LOCUS:SET1; SGD:S0001161 (Marmorstein, 2003) traceable author statement (Simms et al., 2003) inferred from direct assay (Sanchez-Elsner et al., 2006) inferred from direct assay (Sanchez-Elsner et al., 2006)
oogenesis inferred from mutant phenotype (Tripoulas et al., 1994)
oviposition inferred from mutant phenotype (Tripoulas et al., 1994)
regulation of transcription inferred from mutant phenotype (Goodliffe, 2007)
Cellular Component
CV term Evidence References
colocalizes_with chromatin inferred from direct assay (Sanchez-Elsner et al., 2006)
nucleus inferred by curator from GO:0048096 (LaJeunesse and Shearn, 1995) inferred from sequence or structural similarity with InterPro:IPR000637 (FlyBase, 1992-)
Sequence Ontology: Class of Gene
	protein_coding_gene   nuclear_gene
Interactions & Pathways
Summary of Genetic Interactions
Interacts with	Please look at the allele data for full details of the genetic interactions ash1 allele Gene References ash110 w (Beisel et al., 2002) ash111 nej (Bantignies et al., 2000) ash117 Snr1 (Marenda et al., 2004) trx (Zorin et al., 1999, Gildea et al., 2000, Ruhf et al., 2001) lawc (Zorin et al., 1999) ash11 nej (Bantignies et al., 2000) brm (Tripoulas et al., 1994) ash121 w (Beisel et al., 2002) ash122 nej (Bantignies et al., 2000) sktl (Cheng and Shearn, 2004) E(z) (Gildea et al., 2000, Bajusz et al., 2001) Snr1 (Marenda et al., 2004) lid (Gildea et al., 2000) Scm (Gildea et al., 2000) Su(z)2 (Gildea et al., 2000) Psc (Gildea et al., 2000) E(Pc) (Gildea et al., 2000) Dsp1 (Decoville et al., 2001) Sce (Gildea et al., 2000) CycE (Brumby et al., 2002) Asx (