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Q9NR48

- ASH1L_HUMAN

UniProt

Q9NR48 - ASH1L_HUMAN

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Protein

Histone-lysine N-methyltransferase ASH1L

Gene

ASH1L

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi887 – 89913A.T hook 1Add
BLAST
DNA bindingi1347 – 135913A.T hook 2Add
BLAST
DNA bindingi1847 – 185913A.T hook 3Add
BLAST
Zinc fingeri2585 – 263147PHD-typeAdd
BLAST

GO - Molecular functioni

  1. chromatin binding Source: InterPro
  2. DNA binding Source: InterPro
  3. histone-lysine N-methyltransferase activity Source: UniProtKB-EC
  4. zinc ion binding Source: InterPro

GO - Biological processi

  1. cell-cell signaling Source: ProtInc
  2. DNA packaging Source: ProtInc
  3. regulation of transcription, DNA-templated Source: UniProtKB-KW
  4. 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

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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:19088. ASH1L.

Subcellular locationi

Nucleus 1 Publication. Cell junctiontight junction 1 Publication. Chromosome 1 Publication
Note: The relevance of tight junction localization is however unclear.

GO - Cellular componenti

  1. chromosome Source: UniProtKB-KW
  2. cytoplasm Source: HPA
  3. extracellular vesicular exosome Source: UniProt
  4. Golgi apparatus Source: HPA
  5. nucleus Source: HPA
  6. tight junction Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Chromosome, Nucleus, Tight junction

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134891064.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 29692969Histone-lysine N-methyltransferase ASH1LPRO_0000259516Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei22 – 221Phosphoserine1 Publication
Modified residuei375 – 3751N6-acetyllysine1 Publication
Cross-linki402 – 402Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki406 – 406Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Modified residuei2317 – 23171N6-acetyllysineBy similarity
Modified residuei2319 – 23191N6-acetyllysineBy similarity
Modified residuei2323 – 23231N6-acetyllysineBy similarity

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ9NR48.
PaxDbiQ9NR48.
PRIDEiQ9NR48.

PTM databases

PhosphoSiteiQ9NR48.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9NR48.
CleanExiHS_ASH1L.
ExpressionAtlasiQ9NR48. baseline and differential.
GenevestigatoriQ9NR48.

Organism-specific databases

HPAiHPA004806.

Interactioni

Protein-protein interaction databases

BioGridi120969. 8 interactions.
IntActiQ9NR48. 2 interactions.
MINTiMINT-1183184.
STRINGi9606.ENSP00000376204.

Structurei

Secondary structure

1
2969
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi2104 – 21063
Helixi2116 – 21183
Turni2124 – 21263
Turni2128 – 21314
Turni2137 – 21415
Beta strandi2148 – 21514
Beta strandi2155 – 21606
Beta strandi2170 – 21734
Beta strandi2176 – 21794
Helixi2181 – 219010
Beta strandi2200 – 22045
Beta strandi2207 – 22104
Beta strandi2212 – 22154
Helixi2217 – 22204
Beta strandi2228 – 22369
Beta strandi2239 – 224810
Beta strandi2262 – 22643
Helixi2438 – 245821
Helixi2469 – 24713
Helixi2477 – 24793
Helixi2483 – 24864
Helixi2493 – 25019
Helixi2508 – 252619
Helixi2531 – 255828

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3MQMX-ray2.54A/B2438-2561[»]
3OPEX-ray2.90A/B2074-2293[»]
ProteinModelPortaliQ9NR48.
SMRiQ9NR48. Positions 2074-2285, 2436-2561, 2584-2636, 2652-2838.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NR48.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini2091 – 214252AWSPROSITE-ProRule annotationAdd
BLAST
Domaini2145 – 2261117SETPROSITE-ProRule annotationAdd
BLAST
Domaini2269 – 228517Post-SETPROSITE-ProRule annotationAdd
BLAST
Domaini2463 – 253371BromoPROSITE-ProRule annotationAdd
BLAST
Domaini2661 – 2798138BAHPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni2069 – 2288220Catalytic domainAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi1380 – 142445Pro-richAdd
BLAST
Compositional biasi1580 – 1791212Ser-richAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri2585 – 263147PHD-typeAdd
BLAST

Keywords - Domaini

Bromodomain, Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG2940.
GeneTreeiENSGT00760000118855.
HOGENOMiHOG000034094.
HOVERGENiHBG080871.
InParanoidiQ9NR48.
KOiK06101.
OMAiPENSFRK.
OrthoDBiEOG7ZPNJ4.
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.
IPR019787. Znf_PHD-finger.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF01426. BAH. 1 hit.
PF00439. Bromodomain. 1 hit.
PF00628. PHD. 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.
SM00508. PostSET. 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. Align

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 BAA92658.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2594 – 25941K → N in AAF68983. (PubMed:10860993)Curated
Sequence conflicti2697 – 26971D → H in AAF68983. (PubMed:10860993)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti277 – 2771S → G.1 Publication
VAR_069405
Natural varianti724 – 7241A → S Found in a patient with mental retardation, no speech and facial dysmorphisms. 1 Publication
VAR_069406
Natural varianti972 – 9721K → R.1 Publication
VAR_069407
Natural varianti1276 – 12761Y → H.1 Publication
VAR_069408
Natural varianti1416 – 14161S → P.
Corresponds to variant rs13373934 [ dbSNP | Ensembl ].
VAR_055905
Natural varianti1771 – 17711T → A.1 Publication
Corresponds to variant rs4971053 [ dbSNP | Ensembl ].
VAR_028949
Natural varianti1775 – 17751C → W.1 Publication
VAR_069409
Natural varianti2853 – 28531D → G.1 Publication
VAR_069410

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei2035 – 20395Missing in isoform 2. 1 PublicationVSP_039421

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006711450.1. [Q9NR48-2]
XP_006711514.1. XM_006711451.1. [Q9NR48-2]
UniGeneiHs.491060.

Genome annotation databases

EnsembliENST00000368346; ENSP00000357330; ENSG00000116539. [Q9NR48-1]
ENST00000392403; ENSP00000376204; ENSG00000116539. [Q9NR48-2]
GeneIDi55870.
KEGGihsa:55870.
UCSCiuc001fkt.3. human. [Q9NR48-2]
uc009wqq.3. human. [Q9NR48-1]

Polymorphism databases

DMDMi117949323.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS1113.2. [Q9NR48-2 ]
RefSeqi NP_060959.2. NM_018489.2. [Q9NR48-2 ]
XP_006711513.1. XM_006711450.1. [Q9NR48-2 ]
XP_006711514.1. XM_006711451.1. [Q9NR48-2 ]
UniGenei Hs.491060.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
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 [» ]
ProteinModelPortali Q9NR48.
SMRi Q9NR48. Positions 2074-2285, 2436-2561, 2584-2636, 2652-2838.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120969. 8 interactions.
IntActi Q9NR48. 2 interactions.
MINTi MINT-1183184.
STRINGi 9606.ENSP00000376204.

PTM databases

PhosphoSitei Q9NR48.

Polymorphism databases

DMDMi 117949323.

Proteomic databases

MaxQBi Q9NR48.
PaxDbi Q9NR48.
PRIDEi Q9NR48.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000368346 ; ENSP00000357330 ; ENSG00000116539 . [Q9NR48-1 ]
ENST00000392403 ; ENSP00000376204 ; ENSG00000116539 . [Q9NR48-2 ]
GeneIDi 55870.
KEGGi hsa:55870.
UCSCi uc001fkt.3. human. [Q9NR48-2 ]
uc009wqq.3. human. [Q9NR48-1 ]

Organism-specific databases

CTDi 55870.
GeneCardsi GC01M155305.
HGNCi HGNC:19088. ASH1L.
HPAi HPA004806.
MIMi 607999. gene.
neXtProti NX_Q9NR48.
PharmGKBi PA134891064.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2940.
GeneTreei ENSGT00760000118855.
HOGENOMi HOG000034094.
HOVERGENi HBG080871.
InParanoidi Q9NR48.
KOi K06101.
OMAi PENSFRK.
OrthoDBi EOG7ZPNJ4.
PhylomeDBi Q9NR48.
TreeFami TF106416.

Miscellaneous databases

ChiTaRSi ASH1L. human.
EvolutionaryTracei Q9NR48.
GeneWikii ASH1L.
GenomeRNAii 55870.
NextBioi 61186.
PROi Q9NR48.
SOURCEi Search...

Gene expression databases

Bgeei Q9NR48.
CleanExi HS_ASH1L.
ExpressionAtlasi Q9NR48. baseline and differential.
Genevestigatori Q9NR48.

Family and domain databases

Gene3Di 1.20.920.10. 1 hit.
3.30.40.10. 1 hit.
InterProi IPR017956. 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.
IPR019787. Znf_PHD-finger.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view ]
Pfami PF01426. BAH. 1 hit.
PF00439. Bromodomain. 1 hit.
PF00628. PHD. 1 hit.
PF00856. SET. 1 hit.
[Graphical view ]
SMARTi 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 ]
SUPFAMi SSF47370. SSF47370. 1 hit.
SSF57903. SSF57903. 1 hit.
PROSITEi 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.
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Publicationsi

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  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.
    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. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-22, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-375, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "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.
  11. Cited for: X-RAY CRYSTALLOGRAPHY (2.54 ANGSTROMS) OF 2438-2561.
  12. Cited for: VARIANTS GLY-277; SER-724; ARG-972; HIS-1276; TRP-1775 AND GLY-2853.

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: October 29, 2014
This is version 114 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

External Data

Dasty 3