UniProtKB - Q9NR48 (ASH1L_HUMAN)
Protein
Histone-lysine N-methyltransferase ASH1L
Gene
ASH1L
Organism
Homo sapiens (Human)
Status
Functioni
Histone methyltransferase specifically trimethylating 'Lys-36' of histone H3 forming H3K36me3 (PubMed:21239497). Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). The physiological significance of the H3K9me1 activity is unclear (By similarity).By similarity1 Publication
Catalytic activityi
- L-lysyl36-[histone H3] + 3 S-adenosyl-L-methionine = 3 H+ + N6,N6,N6-trimethyl-L-lysyl36-[histone H3] + 3 S-adenosyl-L-homocysteine1 PublicationEC:2.1.1.3591 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 887 – 899 | A.T hook 1Add BLAST | 13 | |
DNA bindingi | 1347 – 1359 | A.T hook 2Add BLAST | 13 | |
DNA bindingi | 1847 – 1859 | A.T hook 3Add BLAST | 13 | |
Zinc fingeri | 2585 – 2631 | PHD-typeAdd BLAST | 47 |
GO - Molecular functioni
- chromatin binding Source: InterPro
- DNA binding Source: InterPro
- histone methyltransferase activity (H3-K36 specific) Source: HGNC
- histone methyltransferase activity (H3-K4 specific) Source: Ensembl
- histone methyltransferase activity (H3-K9 specific) Source: UniProtKB
- metal ion binding Source: UniProtKB-KW
GO - Biological processi
- decidualization Source: Ensembl
- flagellated sperm motility Source: Ensembl
- 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 by RNA polymerase II Source: Ensembl
- post-embryonic development Source: Ensembl
- single fertilization Source: Ensembl
- skeletal system development Source: Ensembl
- tarsal gland development Source: Ensembl
- uterine gland development Source: Ensembl
- uterus morphogenesis Source: Ensembl
Keywordsi
Molecular function | Activator, Chromatin regulator, Methyltransferase, Transferase |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, S-adenosyl-L-methionine, Zinc |
Enzyme and pathway databases
BioCyci | MetaCyc:HS04019-MONOMER |
PathwayCommonsi | Q9NR48 |
Reactomei | R-HSA-3214841, PKMTs methylate histone lysines |
SIGNORi | Q9NR48 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:ASH1L Synonyms:KIAA1420, KMT2H |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000116539.10 |
HGNCi | HGNC:19088, ASH1L |
MIMi | 607999, gene |
neXtProti | NX_Q9NR48 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Other locations
- tight junction 1 Publication
- Chromosome 1 Publication
Note: The relevance of tight junction localization is however unclear.1 Publication
Golgi apparatus
- Golgi apparatus Source: HPA
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: ProtInc
Other locations
- bicellular tight junction Source: ProtInc
- chromosome Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cell junction, Chromosome, Nucleus, Tight junctionPathology & Biotechi
Involvement in diseasei
Mental retardation, autosomal dominant 52 (MRD52)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069406 | 724 | A → S in MRD52; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1293246328EnsemblClinVar. | 1 | |
Natural variantiVAR_069407 | 972 | K → R in MRD52; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_069408 | 1276 | Y → H in MRD52; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs539982914Ensembl. | 1 | |
Natural variantiVAR_069409 | 1775 | C → W in MRD52; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs753734834Ensembl. | 1 | |
Natural variantiVAR_080559 | 2085 | V → I in MRD52; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs749494995Ensembl. | 1 | |
Natural variantiVAR_080560 | 2148 – 2969 | Missing in MRD52. 1 PublicationAdd BLAST | 822 | |
Natural variantiVAR_080561 | 2396 | R → H in MRD52; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs753029013Ensembl. | 1 | |
Natural variantiVAR_080562 | 2791 | A → P in MRD52. 1 PublicationCorresponds to variant dbSNP:rs1553241570Ensembl. | 1 | |
Natural variantiVAR_069410 | 2853 | D → G in MRD52; unknown pathological significance. 1 Publication | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 1220 | Q → R: Abolishes methylation by N6AMT1. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Mental retardationOrganism-specific databases
DisGeNETi | 55870 |
MalaCardsi | ASH1L |
MIMi | 617796, phenotype |
OpenTargetsi | ENSG00000116539 |
Orphaneti | 178469, Autosomal dominant non-syndromic intellectual disability |
PharmGKBi | PA134891064 |
Miscellaneous databases
Pharosi | Q9NR48, Tbio |
Chemistry databases
ChEMBLi | CHEMBL3588739 |
Polymorphism and mutation databases
BioMutai | ASH1L |
DMDMi | 117949323 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000259516 | 1 – 2969 | Histone-lysine N-methyltransferase ASH1LAdd BLAST | 2969 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 22 | PhosphoserineCombined sources | 1 | |
Cross-linki | 34 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 375 | N6-acetyllysineCombined sources | 1 | |
Cross-linki | 425 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 1162 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1170 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1220 | N5-methylglutamine1 Publication | 1 | |
Modified residuei | 2317 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 2319 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 2323 | N6-acetyllysineBy similarity | 1 |
Post-translational modificationi
Methylated at Gln-1220 by N6AMT1.1 Publication
Keywords - PTMi
Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugationProteomic databases
jPOSTi | Q9NR48 |
MassIVEi | Q9NR48 |
MaxQBi | Q9NR48 |
PaxDbi | Q9NR48 |
PeptideAtlasi | Q9NR48 |
PRIDEi | Q9NR48 |
ProteomicsDBi | 82273 [Q9NR48-1] 82274 [Q9NR48-2] |
PTM databases
CarbonylDBi | Q9NR48 |
iPTMneti | Q9NR48 |
PhosphoSitePlusi | Q9NR48 |
Expressioni
Tissue specificityi
Widely expressed, with highest level in brain, heart and kidney.1 Publication
Gene expression databases
Bgeei | ENSG00000116539, Expressed in cerebellar vermis and 224 other tissues |
ExpressionAtlasi | Q9NR48, baseline and differential |
Genevisiblei | Q9NR48, HS |
Organism-specific databases
HPAi | ENSG00000116539, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 120969, 16 interactors |
IntActi | Q9NR48, 18 interactors |
MINTi | Q9NR48 |
STRINGi | 9606.ENSP00000376204 |
Miscellaneous databases
RNActi | Q9NR48, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q9NR48 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9NR48 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 2091 – 2142 | AWSPROSITE-ProRule annotationAdd BLAST | 52 | |
Domaini | 2145 – 2261 | SETPROSITE-ProRule annotationAdd BLAST | 117 | |
Domaini | 2269 – 2285 | Post-SETPROSITE-ProRule annotationAdd BLAST | 17 | |
Domaini | 2463 – 2533 | BromoPROSITE-ProRule annotationAdd BLAST | 71 | |
Domaini | 2661 – 2798 | BAHPROSITE-ProRule annotationAdd BLAST | 138 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 2069 – 2288 | Catalytic domainAdd BLAST | 220 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1380 – 1424 | Pro-richAdd BLAST | 45 | |
Compositional biasi | 1580 – 1791 | Ser-richAdd BLAST | 212 |
Sequence similaritiesi
Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.PROSITE-ProRule annotation
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 2585 – 2631 | PHD-typeAdd BLAST | 47 |
Keywords - Domaini
Bromodomain, Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1083, Eukaryota |
GeneTreei | ENSGT00940000156698 |
HOGENOMi | CLU_000657_0_0_1 |
InParanoidi | Q9NR48 |
OMAi | EPQPACT |
OrthoDBi | 507784at2759 |
PhylomeDBi | Q9NR48 |
TreeFami | TF106416 |
Family and domain databases
CDDi | cd05525, Bromo_ASH1, 1 hit cd15548, PHD_ASH1L, 1 hit |
Gene3Di | 1.20.920.10, 1 hit 2.30.30.490, 1 hit 3.30.40.10, 1 hit |
InterProi | View protein in InterPro IPR017956, AT_hook_DNA-bd_motif IPR006560, AWS_dom IPR001025, BAH_dom IPR043151, BAH_sf IPR043320, Bromo_ASH1L IPR001487, Bromodomain IPR036427, Bromodomain-like_sf IPR043319, PHD_ASH1L 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 |
Pfami | View protein in Pfam PF17907, AWS, 1 hit PF01426, BAH, 1 hit PF00439, Bromodomain, 1 hit PF00856, SET, 1 hit |
SMARTi | View protein in SMART SM00384, AT_hook, 4 hits SM00570, AWS, 1 hit SM00439, BAH, 1 hit SM00297, BROMO, 1 hit SM00249, PHD, 1 hit SM00317, SET, 1 hit |
SUPFAMi | SSF47370, SSF47370, 1 hit SSF57903, SSF57903, 1 hit |
PROSITEi | View protein in PROSITE PS51215, 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 |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9NR48-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8VWK7 | F8VWK7_HUMAN | Histone-lysine N-methyltransferase ... | ASH1L | 177 | Annotation score: | ||
H0YI82 | H0YI82_HUMAN | Histone-lysine N-methyltransferase ... | ASH1L | 154 | Annotation score: |
Sequence cautioni
The sequence BAA92658 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 2594 | K → N in AAF68983 (PubMed:10860993).Curated | 1 | |
Sequence conflicti | 2697 | D → H in AAF68983 (PubMed:10860993).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069405 | 277 | S → G1 PublicationCorresponds to variant dbSNP:rs186255422Ensembl. | 1 | |
Natural variantiVAR_069406 | 724 | A → S in MRD52; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1293246328EnsemblClinVar. | 1 | |
Natural variantiVAR_069407 | 972 | K → R in MRD52; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_069408 | 1276 | Y → H in MRD52; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs539982914Ensembl. | 1 | |
Natural variantiVAR_055905 | 1416 | S → P. Corresponds to variant dbSNP:rs13373934EnsemblClinVar. | 1 | |
Natural variantiVAR_028949 | 1771 | T → A1 PublicationCorresponds to variant dbSNP:rs4971053Ensembl. | 1 | |
Natural variantiVAR_069409 | 1775 | C → W in MRD52; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs753734834Ensembl. | 1 | |
Natural variantiVAR_080559 | 2085 | V → I in MRD52; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs749494995Ensembl. | 1 | |
Natural variantiVAR_080560 | 2148 – 2969 | Missing in MRD52. 1 PublicationAdd BLAST | 822 | |
Natural variantiVAR_080561 | 2396 | R → H in MRD52; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs753029013Ensembl. | 1 | |
Natural variantiVAR_080562 | 2791 | A → P in MRD52. 1 PublicationCorresponds to variant dbSNP:rs1553241570Ensembl. | 1 | |
Natural variantiVAR_069410 | 2853 | D → G in MRD52; unknown pathological significance. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_039421 | 2035 – 2039 | Missing in isoform 2. 1 Publication | 5 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF257305 mRNA Translation: AAF68983.1 AL139410 Genomic DNA No translation available. AL353807 Genomic DNA No translation available. AB037841 mRNA Translation: BAA92658.1 Different initiation. AB209068 mRNA Translation: BAD92305.1 DB282357 mRNA No translation available. |
CCDSi | CCDS1113.2 [Q9NR48-2] |
RefSeqi | NP_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] |
Genome annotation databases
Ensembli | ENST00000368346; ENSP00000357330; ENSG00000116539 [Q9NR48-1] ENST00000392403; ENSP00000376204; ENSG00000116539 [Q9NR48-2] |
GeneIDi | 55870 |
KEGGi | hsa:55870 |
UCSCi | uc001fkt.4, human [Q9NR48-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF257305 mRNA Translation: AAF68983.1 AL139410 Genomic DNA No translation available. AL353807 Genomic DNA No translation available. AB037841 mRNA Translation: BAA92658.1 Different initiation. AB209068 mRNA Translation: BAD92305.1 DB282357 mRNA No translation available. |
CCDSi | CCDS1113.2 [Q9NR48-2] |
RefSeqi | NP_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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB 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 | [»] | |
4YNM | X-ray | 2.19 | A/B | 2074-2293 | [»] | |
4YNP | X-ray | 2.90 | A/B | 2074-2293 | [»] | |
4YPA | X-ray | 2.30 | A/B/C/D | 2074-2293 | [»] | |
4YPE | X-ray | 2.20 | A/B | 2074-2293 | [»] | |
4YPU | X-ray | 2.60 | A/B | 2074-2293 | [»] | |
6AGO | X-ray | 3.10 | A/B | 2039-2293 | [»] | |
6INE | X-ray | 2.60 | A | 2026-2293 | [»] | |
SMRi | Q9NR48 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 120969, 16 interactors |
IntActi | Q9NR48, 18 interactors |
MINTi | Q9NR48 |
STRINGi | 9606.ENSP00000376204 |
Chemistry databases
ChEMBLi | CHEMBL3588739 |
PTM databases
CarbonylDBi | Q9NR48 |
iPTMneti | Q9NR48 |
PhosphoSitePlusi | Q9NR48 |
Polymorphism and mutation databases
BioMutai | ASH1L |
DMDMi | 117949323 |
Proteomic databases
jPOSTi | Q9NR48 |
MassIVEi | Q9NR48 |
MaxQBi | Q9NR48 |
PaxDbi | Q9NR48 |
PeptideAtlasi | Q9NR48 |
PRIDEi | Q9NR48 |
ProteomicsDBi | 82273 [Q9NR48-1] 82274 [Q9NR48-2] |
Protocols and materials databases
Antibodypediai | 1436, 168 antibodies |
Genome annotation databases
Ensembli | ENST00000368346; ENSP00000357330; ENSG00000116539 [Q9NR48-1] ENST00000392403; ENSP00000376204; ENSG00000116539 [Q9NR48-2] |
GeneIDi | 55870 |
KEGGi | hsa:55870 |
UCSCi | uc001fkt.4, human [Q9NR48-1] |
Organism-specific databases
CTDi | 55870 |
DisGeNETi | 55870 |
EuPathDBi | HostDB:ENSG00000116539.10 |
GeneCardsi | ASH1L |
HGNCi | HGNC:19088, ASH1L |
HPAi | ENSG00000116539, Low tissue specificity |
MalaCardsi | ASH1L |
MIMi | 607999, gene 617796, phenotype |
neXtProti | NX_Q9NR48 |
OpenTargetsi | ENSG00000116539 |
Orphaneti | 178469, Autosomal dominant non-syndromic intellectual disability |
PharmGKBi | PA134891064 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1083, Eukaryota |
GeneTreei | ENSGT00940000156698 |
HOGENOMi | CLU_000657_0_0_1 |
InParanoidi | Q9NR48 |
OMAi | EPQPACT |
OrthoDBi | 507784at2759 |
PhylomeDBi | Q9NR48 |
TreeFami | TF106416 |
Enzyme and pathway databases
BioCyci | MetaCyc:HS04019-MONOMER |
PathwayCommonsi | Q9NR48 |
Reactomei | R-HSA-3214841, PKMTs methylate histone lysines |
SIGNORi | Q9NR48 |
Miscellaneous databases
BioGRID-ORCSi | 55870, 31 hits in 856 CRISPR screens |
ChiTaRSi | ASH1L, human |
EvolutionaryTracei | Q9NR48 |
GeneWikii | ASH1L |
GenomeRNAii | 55870 |
Pharosi | Q9NR48, Tbio |
PROi | PR:Q9NR48 |
RNActi | Q9NR48, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000116539, Expressed in cerebellar vermis and 224 other tissues |
ExpressionAtlasi | Q9NR48, baseline and differential |
Genevisiblei | Q9NR48, HS |
Family and domain databases
CDDi | cd05525, Bromo_ASH1, 1 hit cd15548, PHD_ASH1L, 1 hit |
Gene3Di | 1.20.920.10, 1 hit 2.30.30.490, 1 hit 3.30.40.10, 1 hit |
InterProi | View protein in InterPro IPR017956, AT_hook_DNA-bd_motif IPR006560, AWS_dom IPR001025, BAH_dom IPR043151, BAH_sf IPR043320, Bromo_ASH1L IPR001487, Bromodomain IPR036427, Bromodomain-like_sf IPR043319, PHD_ASH1L 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 |
Pfami | View protein in Pfam PF17907, AWS, 1 hit PF01426, BAH, 1 hit PF00439, Bromodomain, 1 hit PF00856, SET, 1 hit |
SMARTi | View protein in SMART SM00384, AT_hook, 4 hits SM00570, AWS, 1 hit SM00439, BAH, 1 hit SM00297, BROMO, 1 hit SM00249, PHD, 1 hit SM00317, SET, 1 hit |
SUPFAMi | SSF47370, SSF47370, 1 hit SSF57903, SSF57903, 1 hit |
PROSITEi | View protein in PROSITE PS51215, 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 |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ASH1L_HUMAN | |
Accessioni | Q9NR48Primary (citable) accession number: Q9NR48 Secondary accession number(s): Q59GP1 Q9P2C7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 31, 2006 |
Last sequence update: | October 31, 2006 | |
Last modified: | December 2, 2020 | |
This is version 169 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- 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 - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations