Q9NR48 (ASH1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Histone-lysine N-methyltransferase ASH1L
EC=2.1.1.43

Alternative name(s):
ASH1-like protein
Short name=huASH1
Absent small and homeotic disks protein 1 homolog
Lysine N-methyltransferase 2H

Gene names

Name:	ASH1L
Synonyms:	KIAA1420, KMT2H

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2969 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me). Ref.9
Catalytic activity	S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]. Ref.9
Subcellular location	Nucleus. Cell junction › tight junction. Chromosome Probable. Note: The relevance of tight junction localization is however unclear. Ref.1
Tissue specificity	Widely expressed, with highest level in brain, heart and kidney. Ref.1
Sequence similarities	Belongs to the histone-lysine methyltransferase family. SET2 subfamily. Contains 3 A.T hook DNA-binding domains. Contains 1 AWS domain. Contains 1 BAH domain. Contains 1 bromo domain. Contains 1 PHD-type zinc finger. Contains 1 post-SET domain. Contains 1 SET domain.
Sequence caution	The sequence BAA92658.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Cell junction Chromosome Nucleus Tight junction
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Bromodomain Repeat Zinc-finger
Ligand	Metal-binding Zinc
Molecular function	Activator Chromatin regulator Methyltransferase Transferase
PTM	Isopeptide bond Phosphoprotein Ubl conjugation
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA packaging Traceable author statement Ref.1. Source: ProtInc cell-cell signaling Traceable author statement Ref.1. Source: ProtInc histone lysine methylation Inferred from electronic annotation. Source: GOC regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription from RNA polymerase II promoter Traceable author statement Ref.1. Source: ProtInc
Cellular_component	Golgi apparatus Inferred from direct assay. Source: HPA chromosome Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from direct assay. Source: HPA tight junction Traceable author statement Ref.1. Source: ProtInc
Molecular_function	DNA binding Inferred from electronic annotation. Source: InterPro histone-lysine N-methyltransferase activity Inferred from electronic annotation. Source: EC zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NR48-1)

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: Q9NR48-2)

The sequence of this isoform differs from the canonical sequence as follows:
     2035-2039: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 2969

2969

Histone-lysine N-methyltransferase ASH1L

PRO_0000259516

Regions

Domain

2091 – 2142

52

AWS

Domain

2144 – 2265

122

SET

Domain

2269 – 2285

17

Post-SET

Domain

2463 – 2533

71

Bromo

Domain

2661 – 2798

138

BAH

DNA binding

887 – 899

13

A.T hook 1

DNA binding

1347 – 1359

13

A.T hook 2

DNA binding

1847 – 1859

13

A.T hook 3

Zinc finger

2585 – 2631

47

PHD-type

Region

2069 – 2288

220

Catalytic domain

Compositional bias

1380 – 1424

45

Pro-rich

Compositional bias

1580 – 1791

212

Ser-rich

Amino acid modifications

Modified residue

22

1

Phosphoserine Ref.8

Cross-link

402

Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.6

Cross-link

406

Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.6

Natural variations

Alternative sequence

2035 – 2039

5

Missing in isoform 2.

VSP_039421

Natural variant

1416

1

S → P.
Corresponds to variant rs13373934 [ dbSNP | Ensembl ].

VAR_055905

Natural variant

1771

1

T → A. Ref.1
Corresponds to variant rs4971053 [ dbSNP | Ensembl ].

VAR_028949

Experimental info

Sequence conflict

2594

1

K → N in AAF68983. Ref.1

Sequence conflict

2697

1

D → H in AAF68983. Ref.1

Secondary structure

1

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2969

Helix Strand Turn

Details...

Beta strand

2104 – 2106

3

Helix

2116 – 2118

3

Turn

2124 – 2126

3

Turn

2128 – 2131

4

Turn

2137 – 2141

5

Beta strand

2148 – 2151

4

Beta strand

2155 – 2160

6

Beta strand

2170 – 2173

4

Beta strand

2176 – 2179

4

Helix

2181 – 2190

10

Beta strand

2200 – 2204

5

Beta strand

2207 – 2210

4

Beta strand

2212 – 2215

4

Helix

2217 – 2220

4

Beta strand

2228 – 2236

9

Beta strand

2239 – 2248

10

Beta strand

2262 – 2264

3

Helix

2438 – 2458

21

Helix

2469 – 2471

3

Helix

2477 – 2479

3

Helix

2483 – 2486

4

Helix

2493 – 2501

9

Helix

2508 – 2526

19

Helix

2531 – 2558

28

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 31, 2006. Version 2. Checksum: DA0135C72A2E2065	FASTA	2,969	332,790
	10 20 30 40 50 60 MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA 70 80 90 100 110 120 GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR 130 140 150 160 170 180 KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP 190 200 210 220 230 240 VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL 250 260 270 280 290 300 GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV 310 320 330 340 350 360 NKDSVKKLGT GTTAVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG 370 380 390 400 410 420 LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD 430 440 450 460 470 480 AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK 490 500 510 520 530 540 FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV 550 560 570 580 590 600 STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG 610 620 630 640 650 660 KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES 670 680 690 700 710 720 SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT 730 740 750 760 770 780 KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP 790 800 810 820 830 840 KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE 850 860 870 880 890 900 GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP 910 920 930 940 950 960 VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS 970 980 990 1000 1010 1020 DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN 1030 1040 1050 1060 1070 1080 TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA 1090 1100 1110 1120 1130 1140 AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS 1150 1160 1170 1180 1190 1200 RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD 1210 1220 1230 1240 1250 1260 SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL 1270 1280 1290 1300 1310 1320 SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF 1330 1340 1350 1360 1370 1380 RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP 1390 1400 1410 1420 1430 1440 SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH 1450 1460 1470 1480 1490 1500 KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV 1510 1520 1530 1540 1550 1560 SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE 1570 1580 1590 1600 1610 1620 PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN 1630 1640 1650 1660 1670 1680 SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC 1690 1700 1710 1720 1730 1740 SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT 1750 1760 1770 1780 1790 1800 ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV 1810 1820 1830 1840 1850 1860 EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA 1870 1880 1890 1900 1910 1920 VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL 1930 1940 1950 1960 1970 1980 LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE IPSPSETPAK PSEPESTLQP VLSLIPREKK 1990 2000 2010 2020 2030 2040 PPRPPKKKYQ KAGLYSDVYK TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVVFFVSG 2050 2060 2070 2080 2090 2100 KYLRQKRIDF QLPYDILWQW KHNQLYKKPD VPLYKKIRSN VYVDVKPLSG YEATTCNCKK 2110 2120 2130 2140 2150 2160 PDDDTRKGCV DDCLNRMIFA ECSPNTCPCG EQCCNQRIQR HEWVQCLERF RAEEKGWGIR 2170 2180 2190 2200 2210 2220 TKEPLKAGQF IIEYLGEVVS EQEFRNRMIE QYHNHSDHYC LNLDSGMVID SYRMGNEARF 2230 2240 2250 2260 2270 2280 INHSCDPNCE MQKWSVNGVY RIGLYALKDM PAGTELTYDY NFHSFNVEKQ QLCKCGFEKC 2290 2300 2310 2320 2330 2340 RGIIGGKSQR VNGLTSSKNS QPMATHKKSG RSKEKRKSKH KLKKRRGHLS EEPSENINTP 2350 2360 2370 2380 2390 2400 TRLTPQLQMK PMSNRERNFV LKHHVFLVRN WEKIRQKQEE VKHTSDNIHS ASLYTRWNGI 2410 2420 2430 2440 2450 2460 CRDDGNIKSD VFMTQFSALQ TARSVRTRRL AAAEENIEVA RAARLAQIFK EICDGIISYK 2470 2480 2490 2500 2510 2520 DSSRQALAAP LLNLPPKKKN ADYYEKISDP LDLITIEKQI LTGYYKTVEA FDADMLKVFR 2530 2540 2550 2560 2570 2580 NAEKYYGRKS PVGRDVCRLR KAYYNARHEA SAQIDEIVGE TASEADSSET SVSEKENGHE 2590 2600 2610 2620 2630 2640 KDDDVIRCIC GLYKDEGLMI QCDKCMVWQH CDCMGVNSDV EHYLCEQCDP RPVDREVPMI 2650 2660 2670 2680 2690 2700 PRPHYAQPGC VYFICLLRDD LLLRQGDCVY LMRDSRRTPD GHPVRQSYRL LSHINRDKLD 2710 2720 2730 2740 2750 2760 IFRIEKLWKN EKEERFAFGH HYFRPHETHH SPSRRFYHNE LFRVPLYEII PLEAVVGTCC 2770 2780 2790 2800 2810 2820 VLDLYTYCKG RPKGVKEQDV YICDYRLDKS AHLFYKIHRN RYPVCTKPYA FDHFPKKLTP 2830 2840 2850 2860 2870 2880 KKDFSPHYVP DNYKRNGGRS SWKSERSKPP LKDLGQEDDA LPLIEEVLAS QEQAANEIPS 2890 2900 2910 2920 2930 2940 LEEPEREGAT ANVSEGEKKT EESSQEPQST CTPEERRHNQ RERLNQILLN LLEKIPGKNA 2950 2960 IDVTYLLEEG SGRKLRRRTL FIPENSFRK
	Isoform 2 [UniParc]. Checksum: 4D6E14A56BB20329	FASTA	2,964	332,211
	10 20 30 40 50 60 MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA 70 80 90 100 110 120 GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR 130 140 150 160 170 180 KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP 190 200 210 220 230 240 VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL 250 260 270 280 290 300 GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV 310 320 330 340 350 360 NKDSVKKLGT GTTAVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG 370 380 390 400 410 420 LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD 430 440 450 460 470 480 AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK 490 500 510 520 530 540 FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV 550 560 570 580 590 600 STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG 610 620 630 640 650 660 KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES 670 680 690 700 710 720 SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT 730 740 750 760 770 780 KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP 790 800 810 820 830 840 KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE 850 860 870 880 890 900 GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP 910 920 930 940 950 960 VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS 970 980 990 1000 1010 1020 DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN 1030 1040 1050 1060 1070 1080 TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA 1090 1100 1110 1120 1130 1140 AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS 1150 1160 1170 1180 1190 1200 RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD 1210 1220 1230 1240 1250 1260 SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL 1270 1280 1290 1300 1310 1320 SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF 1330 1340 1350 1360 1370 1380 RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP 1390 1400 1410 1420 1430 1440 SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH 1450 1460 1470 1480 1490 1500 KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV 1510 1520 1530 1540 1550 1560 SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE 1570 1580 1590 1600 1610 1620 PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN 1630 1640 1650 1660 1670 1680 SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC 1690 1700 1710 1720 1730 1740 SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT 1750 1760 1770 1780 1790 1800 ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV 1810 1820 1830 1840 1850 1860 EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA 1870 1880 1890 1900 1910 1920 VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL 1930 1940 1950 1960 1970 1980 LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE IPSPSETPAK PSEPESTLQP VLSLIPREKK 1990 2000 2010 2020 2030 2040 PPRPPKKKYQ KAGLYSDVYK TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVGKYLRQ 2050 2060 2070 2080 2090 2100 KRIDFQLPYD ILWQWKHNQL YKKPDVPLYK KIRSNVYVDV KPLSGYEATT CNCKKPDDDT 2110 2120 2130 2140 2150 2160 RKGCVDDCLN RMIFAECSPN TCPCGEQCCN QRIQRHEWVQ CLERFRAEEK GWGIRTKEPL 2170 2180 2190 2200 2210 2220 KAGQFIIEYL GEVVSEQEFR NRMIEQYHNH SDHYCLNLDS GMVIDSYRMG NEARFINHSC 2230 2240 2250 2260 2270 2280 DPNCEMQKWS VNGVYRIGLY ALKDMPAGTE LTYDYNFHSF NVEKQQLCKC GFEKCRGIIG 2290 2300 2310 2320 2330 2340 GKSQRVNGLT SSKNSQPMAT HKKSGRSKEK RKSKHKLKKR RGHLSEEPSE NINTPTRLTP 2350 2360 2370 2380 2390 2400 QLQMKPMSNR ERNFVLKHHV FLVRNWEKIR QKQEEVKHTS DNIHSASLYT RWNGICRDDG 2410 2420 2430 2440 2450 2460 NIKSDVFMTQ FSALQTARSV RTRRLAAAEE NIEVARAARL AQIFKEICDG IISYKDSSRQ 2470 2480 2490 2500 2510 2520 ALAAPLLNLP PKKKNADYYE KISDPLDLIT IEKQILTGYY KTVEAFDADM LKVFRNAEKY 2530 2540 2550 2560 2570 2580 YGRKSPVGRD VCRLRKAYYN ARHEASAQID EIVGETASEA DSSETSVSEK ENGHEKDDDV 2590 2600 2610 2620 2630 2640 IRCICGLYKD EGLMIQCDKC MVWQHCDCMG VNSDVEHYLC EQCDPRPVDR EVPMIPRPHY 2650 2660 2670 2680 2690 2700 AQPGCVYFIC LLRDDLLLRQ GDCVYLMRDS RRTPDGHPVR QSYRLLSHIN RDKLDIFRIE 2710 2720 2730 2740 2750 2760 KLWKNEKEER FAFGHHYFRP HETHHSPSRR FYHNELFRVP LYEIIPLEAV VGTCCVLDLY 2770 2780 2790 2800 2810 2820 TYCKGRPKGV KEQDVYICDY RLDKSAHLFY KIHRNRYPVC TKPYAFDHFP KKLTPKKDFS 2830 2840 2850 2860 2870 2880 PHYVPDNYKR NGGRSSWKSE RSKPPLKDLG QEDDALPLIE EVLASQEQAA NEIPSLEEPE 2890 2900 2910 2920 2930 2940 REGATANVSE GEKKTEESSQ EPQSTCTPEE RRHNQRERLN QILLNLLEKI PGKNAIDVTY 2950 2960 LLEEGSGRKL RRRTLFIPEN SFRK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"huASH1 protein, a putative transcription factor encoded by a human homologue of the Drosophila ash1 gene, localizes to both nuclei and cell-cell tight junctions." Nakamura T., Blechman J., Tada S., Rozovskaia T., Itoyama T., Bullrich F., Mazo A., Croce C.M., Geiger B., Canaani E. Proc. Natl. Acad. Sci. U.S.A. 97:7284-7289(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT ALA-1771.
[2]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1345. Tissue: Brain.
[4]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 710-1345. Tissue: Brain.
[5]	"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. , 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: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2000-2183 (ISOFORM 2).
[6]	"The proteomic reactor facilitates the analysis of affinity-purified proteins by mass spectrometry: application for identifying ubiquitinated proteins in human cells." Vasilescu J., Zweitzig D.R., Denis N.J., Smith J.C., Ethier M., Haines D.S., Figeys D. J. Proteome Res. 6:298-305(2007) [PubMed] [Europe PMC] [Abstract] Cited for: UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-402 AND LYS-406, MASS SPECTROMETRY. Tissue: Lung adenocarcinoma.
[7]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[8]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-22, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"Crystal structure of the human histone methyltransferase ASH1L catalytic domain and its implications for the regulatory mechanism." An S., Yeo K.J., Jeon Y.H., Song J.J. J. Biol. Chem. 286:8369-8374(2011) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS) OF 2074-2293 IN COMPLEX WITH S-ADENOSYL-L-METHIONINE, FUNCTION, CATALYTIC ACTIVITY.
[10]	"Histone recognition and large-scale structural analysis of the human bromodomain family." Filippakopoulos P., Picaud S., Mangos M., Keates T., Lambert J.P., Barsyte-Lovejoy D., Felletar I., Volkmer R., Muller S., Pawson T., Gingras A.C., Arrowsmith C.H., Knapp S. Cell 149:214-231(2012) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.54 ANGSTROMS) OF 2438-2561.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AF257305 mRNA. Translation: AAF68983.1.
AL139410, AL353807 Genomic DNA. Translation: CAI12716.2.
AL139410, AL353807 Genomic DNA. Translation: CAI12722.1.
AL353807, AL139410 Genomic DNA. Translation: CAI13211.2.
AL353807, AL139410 Genomic DNA. Translation: CAI13212.1.
AB037841 mRNA. Translation: BAA92658.1. Different initiation.
AB209068 mRNA. Translation: BAD92305.1.
DB282357 mRNA. No translation available.

IPI

IPI00020546.
IPI00642422.

RefSeq

NP_060959.2. NM_018489.2.

UniGene

Hs.491060.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3MQM	X-ray	2.54	A/B	2438-2561	[»]
3OPE	X-ray	2.90	A/B	2074-2293	[»]

ProteinModelPortal

Q9NR48.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9NR48. 1 interaction.

MINT

MINT-1183184.

STRING

9606.ENSP00000376204.

PTM databases

PhosphoSite

Q9NR48.

Polymorphism databases

DMDM

117949323.

Proteomic databases

PaxDb

Q9NR48.

PRIDE

Q9NR48.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000368346; ENSP00000357330; ENSG00000116539.
ENST00000392403; ENSP00000376204; ENSG00000116539.

GeneID

55870.

KEGG

hsa:55870.

UCSC

uc001fkt.3. human.
uc009wqq.3. human.

Organism-specific databases

CTD

55870.

GeneCards

GC01M155305.

HGNC

HGNC:19088. ASH1L.

HPA

HPA004806.

MIM

607999. gene.

neXtProt

NX_Q9NR48.

PharmGKB

PA134891064.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG2940.

HOGENOM

HOG000034094.

HOVERGEN

HBG080871.

InParanoid

Q9NR48.

KO

K06101.

OMA

PENSFRK.

OrthoDB

EOG4BZN1Q.

PhylomeDB

Q9NR48.

Gene expression databases

ArrayExpress

Q9NR48.

Bgee

Q9NR48.

CleanEx

HS_ASH1L.

Genevestigator

Q9NR48.

GermOnline

ENSG00000116539. Homo sapiens.

Family and domain databases

Gene3D

1.20.920.10. 1 hit.
3.30.40.10. 1 hit.

InterPro

IPR017956. AT_hook_DNA-bd_motif.
IPR006560. AWS.
IPR001025. BAH_dom.
IPR001487. Bromodomain.
IPR003616. Post-SET_dom.
IPR001214. SET_dom.
IPR019786. Zinc_finger_PHD-type_CS.
IPR011011. Znf_FYVE_PHD.
IPR001965. Znf_PHD.
IPR019787. Znf_PHD-finger.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]

Pfam

PF01426. BAH. 1 hit.
PF00439. Bromodomain. 1 hit.
PF00628. PHD. 1 hit.
PF00856. SET. 1 hit.
[Graphical view]

SMART

SM00384. AT_hook. 4 hits.
SM00570. AWS. 1 hit.
SM00439. BAH. 1 hit.
SM00297. BROMO. 1 hit.
SM00249. PHD. 1 hit.
SM00508. PostSET. 1 hit.
SM00317. SET. 1 hit.
[Graphical view]

SUPFAM

SSF47370. Bromodomain. 1 hit.
SSF57903. FYVE_PHD_ZnF. 1 hit.

PROSITE

PS51215. AWS. 1 hit.
PS51038. BAH. 1 hit.
PS00633. BROMODOMAIN_1. False negative.
PS50014. BROMODOMAIN_2. 1 hit.
PS50868. POST_SET. 1 hit.
PS50280. SET. 1 hit.
PS01359. ZF_PHD_1. 1 hit.
PS50016. ZF_PHD_2. False negative.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

ASH1L. human.

EvolutionaryTrace

Q9NR48.

GenomeRNAi

55870.

NextBio

61186.

SOURCE

Search...

Entry information

Entry name

ASH1L_HUMAN

Accession

Primary (citable) accession number: Q9NR48
Secondary accession number(s): Q59GP1 , Q5T714, Q5T715, Q9P2C7

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2006
Last sequence update:	October 31, 2006
Last modified:	May 1, 2013
This is version 100 of the entry and version 2 of the sequence. [Complete 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.