Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Histone-lysine N-methyltransferase ASH1L

Gene

ASH1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me).1 Publication

Catalytic activityi

S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi887 – 899A.T hook 1Add BLAST13
DNA bindingi1347 – 1359A.T hook 2Add BLAST13
DNA bindingi1847 – 1859A.T hook 3Add BLAST13
Zinc fingeri2585 – 2631PHD-typeAdd BLAST47

GO - Molecular functioni

GO - Biological processi

  • cell-cell signaling Source: ProtInc
  • DNA packaging Source: ProtInc
  • histone H3-K36 dimethylation Source: HGNC
  • interleukin-6 production Source: Ensembl
  • negative regulation of acute inflammatory response Source: Ensembl
  • negative regulation of I-kappaB kinase/NF-kappaB signaling Source: Ensembl
  • negative regulation of MAPK cascade Source: Ensembl
  • positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  • transcription from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Activator, Chromatin regulator, Methyltransferase, Transferase

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

Metal-binding, S-adenosyl-L-methionine, Zinc

Enzyme and pathway databases

BioCyciZFISH:HS04019-MONOMER.
ReactomeiR-HSA-3214841. PKMTs methylate histone lysines.

Names & Taxonomyi

Protein namesi
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 namesi
Name:ASH1L
Synonyms:KIAA1420, KMT2H
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:19088. ASH1L.

Subcellular locationi

GO - Cellular componenti

  • bicellular tight junction Source: ProtInc
  • chromosome Source: UniProtKB-SubCell
  • cytoplasm Source: HPA
  • extracellular exosome Source: UniProtKB
  • Golgi apparatus Source: HPA
  • nucleoplasm Source: HPA
  • nucleus Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Chromosome, Nucleus, Tight junction

Pathology & Biotechi

Organism-specific databases

DisGeNETi55870.
OpenTargetsiENSG00000116539.
PharmGKBiPA134891064.

Chemistry databases

ChEMBLiCHEMBL3588739.

Polymorphism and mutation databases

BioMutaiASH1L.
DMDMi117949323.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002595161 – 2969Histone-lysine N-methyltransferase ASH1LAdd BLAST2969

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei22PhosphoserineCombined sources1
Modified residuei375N6-acetyllysineCombined sources1
Modified residuei1162PhosphoserineBy similarity1
Modified residuei1170PhosphoserineBy similarity1
Modified residuei2317N6-acetyllysineBy similarity1
Modified residuei2319N6-acetyllysineBy similarity1
Modified residuei2323N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ9NR48.
PaxDbiQ9NR48.
PeptideAtlasiQ9NR48.
PRIDEiQ9NR48.

PTM databases

iPTMnetiQ9NR48.
PhosphoSitePlusiQ9NR48.

Expressioni

Tissue specificityi

Widely expressed, with highest level in brain, heart and kidney.1 Publication

Gene expression databases

BgeeiENSG00000116539.
CleanExiHS_ASH1L.
ExpressionAtlasiQ9NR48. baseline and differential.
GenevisibleiQ9NR48. HS.

Organism-specific databases

HPAiHPA004806.

Interactioni

Protein-protein interaction databases

BioGridi120969. 12 interactors.
IntActiQ9NR48. 6 interactors.
MINTiMINT-1183184.
STRINGi9606.ENSP00000376204.

Structurei

Secondary structure

12969
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi2081 – 2084Combined sources4
Beta strandi2104 – 2106Combined sources3
Helixi2114 – 2117Combined sources4
Turni2124 – 2126Combined sources3
Helixi2130 – 2132Combined sources3
Beta strandi2133 – 2135Combined sources3
Turni2137 – 2141Combined sources5
Beta strandi2147 – 2151Combined sources5
Beta strandi2155 – 2163Combined sources9
Beta strandi2170 – 2173Combined sources4
Beta strandi2177 – 2180Combined sources4
Helixi2181 – 2190Combined sources10
Turni2191 – 2194Combined sources4
Beta strandi2200 – 2204Combined sources5
Beta strandi2207 – 2210Combined sources4
Beta strandi2212 – 2215Combined sources4
Helixi2217 – 2220Combined sources4
Beta strandi2228 – 2236Combined sources9
Beta strandi2239 – 2248Combined sources10
Helixi2260 – 2263Combined sources4
Beta strandi2282 – 2284Combined sources3
Helixi2438 – 2458Combined sources21
Helixi2469 – 2471Combined sources3
Helixi2477 – 2479Combined sources3
Helixi2483 – 2486Combined sources4
Helixi2493 – 2501Combined sources9
Helixi2508 – 2526Combined sources19
Helixi2531 – 2558Combined sources28

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3MQMX-ray2.54A/B2438-2561[»]
3OPEX-ray2.90A/B2074-2293[»]
4YNMX-ray2.19A/B2074-2293[»]
4YNPX-ray2.90A/B2074-2293[»]
4YPAX-ray2.30A/B/C/D2074-2293[»]
4YPEX-ray2.20A/B2074-2293[»]
4YPUX-ray2.60A/B2074-2293[»]
ProteinModelPortaliQ9NR48.
SMRiQ9NR48.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NR48.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini2091 – 2142AWSPROSITE-ProRule annotationAdd BLAST52
Domaini2145 – 2261SETPROSITE-ProRule annotationAdd BLAST117
Domaini2269 – 2285Post-SETPROSITE-ProRule annotationAdd BLAST17
Domaini2463 – 2533BromoPROSITE-ProRule annotationAdd BLAST71
Domaini2661 – 2798BAHPROSITE-ProRule annotationAdd BLAST138

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2069 – 2288Catalytic domainAdd BLAST220

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1380 – 1424Pro-richAdd BLAST45
Compositional biasi1580 – 1791Ser-richAdd BLAST212

Sequence similaritiesi

Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.PROSITE-ProRule annotation
Contains 3 A.T hook DNA-binding domains.Curated
Contains 1 AWS domain.PROSITE-ProRule annotation
Contains 1 BAH domain.PROSITE-ProRule annotation
Contains 1 bromo domain.PROSITE-ProRule annotation
Contains 1 PHD-type zinc finger.Curated
Contains 1 post-SET domain.PROSITE-ProRule annotation
Contains 1 SET domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri2585 – 2631PHD-typeAdd BLAST47

Keywords - Domaini

Bromodomain, Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1083. Eukaryota.
COG2940. LUCA.
COG5076. LUCA.
GeneTreeiENSGT00780000121845.
HOGENOMiHOG000034094.
HOVERGENiHBG080871.
InParanoidiQ9NR48.
KOiK06101.
OMAiHSEMTDY.
OrthoDBiEOG091G02U7.
PhylomeDBiQ9NR48.
TreeFamiTF106416.

Family and domain databases

Gene3Di1.20.920.10. 1 hit.
3.30.40.10. 1 hit.
InterProiIPR017956. AT_hook_DNA-bd_motif.
IPR006560. AWS_dom.
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.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF01426. BAH. 1 hit.
PF00439. Bromodomain. 1 hit.
PF00856. SET. 1 hit.
[Graphical view]
SMARTiSM00384. AT_hook. 4 hits.
SM00570. AWS. 1 hit.
SM00439. BAH. 1 hit.
SM00297. BROMO. 1 hit.
SM00249. PHD. 1 hit.
SM00317. SET. 1 hit.
[Graphical view]
SUPFAMiSSF47370. SSF47370. 1 hit.
SSF57903. SSF57903. 1 hit.
PROSITEiPS51215. AWS. 1 hit.
PS51038. BAH. 1 hit.
PS50014. BROMODOMAIN_2. 1 hit.
PS50868. POST_SET. 1 hit.
PS50280. SET. 1 hit.
PS01359. ZF_PHD_1. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NR48-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR
60 70 80 90 100
KRNRERNIEA GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP
110 120 130 140 150
KNLENYVCRP AIKTTIKHPR KALKSGKMTD EKNEHCPSKR DPSKLYKKAD
160 170 180 190 200
DVAAIECQSE EVIRLHSQGE NNPLSKKLSP VHSEMADYIN ATPSTLLGSR
210 220 230 240 250
DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL GTGTTAGLVS
260 270 280 290 300
KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV
310 320 330 340 350
NKDSVKKLGT GTTAVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL
360 370 380 390 400
VHKESGKKLG LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV
410 420 430 440 450
NKDIGKKLMS CPLAGLISKD AINLKAEALL PTQEPLKASC STNINNQESQ
460 470 480 490 500
ELSESLKDSA TSKTFEKNVV RQNKESILEK FSVRKEIINL EKEMFNEGTC
510 520 530 540 550
IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV STAKSPFSAV
560 570 580 590 600
GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG
610 620 630 640 650
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL
660 670 680 690 700
GKKPSLTSES SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL
710 720 730 740 750
STSLQSKPLK KRKGRKPRWT KVVARSTCRS PKGLELERSE LFKNVSCSSL
760 770 780 790 800
SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP KLSKSTAPSL ALLADSEKPS
810 820 830 840 850
HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE GPPKRTLKIP
860 870 880 890 900
ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP
910 920 930 940 950
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD
960 970 980 990 1000
SHRPSVCSMS DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ
1010 1020 1030 1040 1050
ILSSSVESSN KGKVQSKLHN TVSSLAATFG SKLGQQINVS KKGTIYIGKR
1060 1070 1080 1090 1100
RGRKPKTVLN GILSGSPTSL AVLEQTAQQA AGSALGQILP PLLPSSASSS
1110 1120 1130 1140 1150
EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS RQGSMIQTLA
1160 1170 1180 1190 1200
MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD
1210 1220 1230 1240 1250
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH
1260 1270 1280 1290 1300
KCKRRNHDYL SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE
1310 1320 1330 1340 1350
IRITHRSHHF IPRDLLPTIF RINFNSFYTH PSFPLDPLHY IRKPDLKKKR
1360 1370 1380 1390 1400
GRPPKMREAM AEMPFMHSLS FPLSSTGFYP SYGMPYSPSP LTAAPIGLGY
1410 1420 1430 1440 1450
YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH KKKHKLLRQE
1460 1470 1480 1490 1500
AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV
1510 1520 1530 1540 1550
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI
1560 1570 1580 1590 1600
NREEQWVHRE PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS
1610 1620 1630 1640 1650
DEHTNLFTSA IGSCRVSNPN SSGRKKLTDS PGLFSAQDTS LNRLHRKESL
1660 1670 1680 1690 1700
PSNERAVQTL AGSQPTSDKP SQRPSESTNC SPTRKRSSSE STSSTVNGVP
1710 1720 1730 1740 1750
SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT ASAPPSSSPG
1760 1770 1780 1790 1800
RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV
1810 1820 1830 1840 1850
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP
1860 1870 1880 1890 1900
GRPRKCPLQA VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV
1910 1920 1930 1940 1950
VQSVNLNPEH KKGLKRKGWL LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE
1960 1970 1980 1990 2000
IPSPSETPAK PSEPESTLQP VLSLIPREKK PPRPPKKKYQ KAGLYSDVYK
2010 2020 2030 2040 2050
TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVVFFVSG KYLRQKRIDF
2060 2070 2080 2090 2100
QLPYDILWQW KHNQLYKKPD VPLYKKIRSN VYVDVKPLSG YEATTCNCKK
2110 2120 2130 2140 2150
PDDDTRKGCV DDCLNRMIFA ECSPNTCPCG EQCCNQRIQR HEWVQCLERF
2160 2170 2180 2190 2200
RAEEKGWGIR TKEPLKAGQF IIEYLGEVVS EQEFRNRMIE QYHNHSDHYC
2210 2220 2230 2240 2250
LNLDSGMVID SYRMGNEARF INHSCDPNCE MQKWSVNGVY RIGLYALKDM
2260 2270 2280 2290 2300
PAGTELTYDY NFHSFNVEKQ QLCKCGFEKC RGIIGGKSQR VNGLTSSKNS
2310 2320 2330 2340 2350
QPMATHKKSG RSKEKRKSKH KLKKRRGHLS EEPSENINTP TRLTPQLQMK
2360 2370 2380 2390 2400
PMSNRERNFV LKHHVFLVRN WEKIRQKQEE VKHTSDNIHS ASLYTRWNGI
2410 2420 2430 2440 2450
CRDDGNIKSD VFMTQFSALQ TARSVRTRRL AAAEENIEVA RAARLAQIFK
2460 2470 2480 2490 2500
EICDGIISYK DSSRQALAAP LLNLPPKKKN ADYYEKISDP LDLITIEKQI
2510 2520 2530 2540 2550
LTGYYKTVEA FDADMLKVFR NAEKYYGRKS PVGRDVCRLR KAYYNARHEA
2560 2570 2580 2590 2600
SAQIDEIVGE TASEADSSET SVSEKENGHE KDDDVIRCIC GLYKDEGLMI
2610 2620 2630 2640 2650
QCDKCMVWQH CDCMGVNSDV EHYLCEQCDP RPVDREVPMI PRPHYAQPGC
2660 2670 2680 2690 2700
VYFICLLRDD LLLRQGDCVY LMRDSRRTPD GHPVRQSYRL LSHINRDKLD
2710 2720 2730 2740 2750
IFRIEKLWKN EKEERFAFGH HYFRPHETHH SPSRRFYHNE LFRVPLYEII
2760 2770 2780 2790 2800
PLEAVVGTCC VLDLYTYCKG RPKGVKEQDV YICDYRLDKS AHLFYKIHRN
2810 2820 2830 2840 2850
RYPVCTKPYA FDHFPKKLTP KKDFSPHYVP DNYKRNGGRS SWKSERSKPP
2860 2870 2880 2890 2900
LKDLGQEDDA LPLIEEVLAS QEQAANEIPS LEEPEREGAT ANVSEGEKKT
2910 2920 2930 2940 2950
EESSQEPQST CTPEERRHNQ RERLNQILLN LLEKIPGKNA IDVTYLLEEG
2960
SGRKLRRRTL FIPENSFRK
Length:2,969
Mass (Da):332,790
Last modified:October 31, 2006 - v2
Checksum:iDA0135C72A2E2065
GO
Isoform 2 (identifier: Q9NR48-2) [UniParc]FASTAAdd to basket

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

Show »
Length:2,964
Mass (Da):332,211
Checksum:i4D6E14A56BB20329
GO

Sequence cautioni

The sequence BAA92658 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti2594K → N in AAF68983 (PubMed:10860993).Curated1
Sequence conflicti2697D → H in AAF68983 (PubMed:10860993).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069405277S → G.1 PublicationCorresponds to variant rs186255422dbSNPEnsembl.1
Natural variantiVAR_069406724A → S Found in a patient with mental retardation, no speech and facial dysmorphisms. 1 Publication1
Natural variantiVAR_069407972K → R.1 Publication1
Natural variantiVAR_0694081276Y → H.1 PublicationCorresponds to variant rs539982914dbSNPEnsembl.1
Natural variantiVAR_0559051416S → P.Corresponds to variant rs13373934dbSNPEnsembl.1
Natural variantiVAR_0289491771T → A.1 PublicationCorresponds to variant rs4971053dbSNPEnsembl.1
Natural variantiVAR_0694091775C → W.1 PublicationCorresponds to variant rs753734834dbSNPEnsembl.1
Natural variantiVAR_0694102853D → G.1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0394212035 – 2039Missing in isoform 2. 1 Publication5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS1113.2. [Q9NR48-2]
RefSeqiNP_060959.2. NM_018489.2. [Q9NR48-2]
XP_006711513.1. XM_006711450.3. [Q9NR48-2]
XP_006711514.1. XM_006711451.3. [Q9NR48-2]
XP_016857273.1. XM_017001784.1. [Q9NR48-2]
XP_016857274.1. XM_017001785.1. [Q9NR48-2]
UniGeneiHs.491060.

Genome annotation databases

EnsembliENST00000368346; ENSP00000357330; ENSG00000116539. [Q9NR48-1]
ENST00000392403; ENSP00000376204; ENSG00000116539. [Q9NR48-2]
GeneIDi55870.
KEGGihsa:55870.
UCSCiuc001fkt.4. human. [Q9NR48-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS1113.2. [Q9NR48-2]
RefSeqiNP_060959.2. NM_018489.2. [Q9NR48-2]
XP_006711513.1. XM_006711450.3. [Q9NR48-2]
XP_006711514.1. XM_006711451.3. [Q9NR48-2]
XP_016857273.1. XM_017001784.1. [Q9NR48-2]
XP_016857274.1. XM_017001785.1. [Q9NR48-2]
UniGeneiHs.491060.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3MQMX-ray2.54A/B2438-2561[»]
3OPEX-ray2.90A/B2074-2293[»]
4YNMX-ray2.19A/B2074-2293[»]
4YNPX-ray2.90A/B2074-2293[»]
4YPAX-ray2.30A/B/C/D2074-2293[»]
4YPEX-ray2.20A/B2074-2293[»]
4YPUX-ray2.60A/B2074-2293[»]
ProteinModelPortaliQ9NR48.
SMRiQ9NR48.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120969. 12 interactors.
IntActiQ9NR48. 6 interactors.
MINTiMINT-1183184.
STRINGi9606.ENSP00000376204.

Chemistry databases

ChEMBLiCHEMBL3588739.

PTM databases

iPTMnetiQ9NR48.
PhosphoSitePlusiQ9NR48.

Polymorphism and mutation databases

BioMutaiASH1L.
DMDMi117949323.

Proteomic databases

MaxQBiQ9NR48.
PaxDbiQ9NR48.
PeptideAtlasiQ9NR48.
PRIDEiQ9NR48.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368346; ENSP00000357330; ENSG00000116539. [Q9NR48-1]
ENST00000392403; ENSP00000376204; ENSG00000116539. [Q9NR48-2]
GeneIDi55870.
KEGGihsa:55870.
UCSCiuc001fkt.4. human. [Q9NR48-1]

Organism-specific databases

CTDi55870.
DisGeNETi55870.
GeneCardsiASH1L.
HGNCiHGNC:19088. ASH1L.
HPAiHPA004806.
MIMi607999. gene.
neXtProtiNX_Q9NR48.
OpenTargetsiENSG00000116539.
PharmGKBiPA134891064.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1083. Eukaryota.
COG2940. LUCA.
COG5076. LUCA.
GeneTreeiENSGT00780000121845.
HOGENOMiHOG000034094.
HOVERGENiHBG080871.
InParanoidiQ9NR48.
KOiK06101.
OMAiHSEMTDY.
OrthoDBiEOG091G02U7.
PhylomeDBiQ9NR48.
TreeFamiTF106416.

Enzyme and pathway databases

BioCyciZFISH:HS04019-MONOMER.
ReactomeiR-HSA-3214841. PKMTs methylate histone lysines.

Miscellaneous databases

ChiTaRSiASH1L. human.
EvolutionaryTraceiQ9NR48.
GeneWikiiASH1L.
GenomeRNAii55870.
PROiQ9NR48.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000116539.
CleanExiHS_ASH1L.
ExpressionAtlasiQ9NR48. baseline and differential.
GenevisibleiQ9NR48. HS.

Family and domain databases

Gene3Di1.20.920.10. 1 hit.
3.30.40.10. 1 hit.
InterProiIPR017956. AT_hook_DNA-bd_motif.
IPR006560. AWS_dom.
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.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF01426. BAH. 1 hit.
PF00439. Bromodomain. 1 hit.
PF00856. SET. 1 hit.
[Graphical view]
SMARTiSM00384. AT_hook. 4 hits.
SM00570. AWS. 1 hit.
SM00439. BAH. 1 hit.
SM00297. BROMO. 1 hit.
SM00249. PHD. 1 hit.
SM00317. SET. 1 hit.
[Graphical view]
SUPFAMiSSF47370. SSF47370. 1 hit.
SSF57903. SSF57903. 1 hit.
PROSITEiPS51215. AWS. 1 hit.
PS51038. BAH. 1 hit.
PS50014. BROMODOMAIN_2. 1 hit.
PS50868. POST_SET. 1 hit.
PS50280. SET. 1 hit.
PS01359. ZF_PHD_1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiASH1L_HUMAN
AccessioniPrimary (citable) accession number: Q9NR48
Secondary accession number(s): Q59GP1
, Q5T714, Q5T715, Q9P2C7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: November 30, 2016
This is version 137 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.