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Q9NR48

- ASH1L_HUMAN

UniProt

Q9NR48 - ASH1L_HUMAN

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Protein
Histone-lysine N-methyltransferase ASH1L
Gene
ASH1L, KIAA1420, KMT2H
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 1
Add
BLAST
DNA bindingi1347 – 135913A.T hook 2
Add
BLAST
DNA bindingi1847 – 185913A.T hook 3
Add
BLAST
Zinc fingeri2585 – 263147PHD-type
Add
BLAST

GO - Molecular functioni

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

GO - Biological processi

  1. DNA packaging Source: ProtInc
  2. cell-cell signaling 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. Cell junctiontight junction. Chromosome Inferred
Note: The relevance of tight junction localization is however unclear.1 Publication

GO - Cellular componenti

  1. Golgi apparatus Source: HPA
  2. chromosome Source: UniProtKB-SubCell
  3. cytoplasm Source: HPA
  4. extracellular vesicular exosome Source: UniProt
  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 ASH1L
PRO_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-acetyllysine By similarity
Modified residuei2319 – 23191N6-acetyllysine By similarity
Modified residuei2323 – 23231N6-acetyllysine By 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

ArrayExpressiQ9NR48.
BgeeiQ9NR48.
CleanExiHS_ASH1L.
GenevestigatoriQ9NR48.

Organism-specific databases

HPAiHPA004806.

Interactioni

Protein-protein interaction databases

BioGridi120969. 6 interactions.
IntActiQ9NR48. 2 interactions.
MINTiMINT-1183184.
STRINGi9606.ENSP00000376204.

Structurei

Secondary structure

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 1981-2285, 2436-2561, 2584-2636, 2704-2806.

Miscellaneous databases

EvolutionaryTraceiQ9NR48.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini2091 – 214252AWS
Add
BLAST
Domaini2145 – 2261117SET
Add
BLAST
Domaini2269 – 228517Post-SET
Add
BLAST
Domaini2463 – 253371Bromo
Add
BLAST
Domaini2661 – 2798138BAH
Add
BLAST

Region

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

Compositional bias

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

Sequence similaritiesi

Contains 1 AWS domain.
Contains 1 BAH domain.
Contains 1 bromo domain.
Contains 1 post-SET domain.
Contains 1 SET domain.

Keywords - Domaini

Bromodomain, Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG2940.
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.
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

MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR     50
KRNRERNIEA GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP 100
KNLENYVCRP AIKTTIKHPR KALKSGKMTD EKNEHCPSKR DPSKLYKKAD 150
DVAAIECQSE EVIRLHSQGE NNPLSKKLSP VHSEMADYIN ATPSTLLGSR 200
DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL GTGTTAGLVS 250
KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV 300
NKDSVKKLGT GTTAVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL 350
VHKESGKKLG LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV 400
NKDIGKKLMS CPLAGLISKD AINLKAEALL PTQEPLKASC STNINNQESQ 450
ELSESLKDSA TSKTFEKNVV RQNKESILEK FSVRKEIINL EKEMFNEGTC 500
IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV STAKSPFSAV 550
GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG 600
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL 650
GKKPSLTSES SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL 700
STSLQSKPLK KRKGRKPRWT KVVARSTCRS PKGLELERSE LFKNVSCSSL 750
SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP KLSKSTAPSL ALLADSEKPS 800
HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE GPPKRTLKIP 850
ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP 900
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD 950
SHRPSVCSMS DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ 1000
ILSSSVESSN KGKVQSKLHN TVSSLAATFG SKLGQQINVS KKGTIYIGKR 1050
RGRKPKTVLN GILSGSPTSL AVLEQTAQQA AGSALGQILP PLLPSSASSS 1100
EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS RQGSMIQTLA 1150
MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD 1200
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH 1250
KCKRRNHDYL SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE 1300
IRITHRSHHF IPRDLLPTIF RINFNSFYTH PSFPLDPLHY IRKPDLKKKR 1350
GRPPKMREAM AEMPFMHSLS FPLSSTGFYP SYGMPYSPSP LTAAPIGLGY 1400
YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH KKKHKLLRQE 1450
AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV 1500
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI 1550
NREEQWVHRE PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS 1600
DEHTNLFTSA IGSCRVSNPN SSGRKKLTDS PGLFSAQDTS LNRLHRKESL 1650
PSNERAVQTL AGSQPTSDKP SQRPSESTNC SPTRKRSSSE STSSTVNGVP 1700
SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT ASAPPSSSPG 1750
RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV 1800
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP 1850
GRPRKCPLQA VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV 1900
VQSVNLNPEH KKGLKRKGWL LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE 1950
IPSPSETPAK PSEPESTLQP VLSLIPREKK PPRPPKKKYQ KAGLYSDVYK 2000
TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVVFFVSG KYLRQKRIDF 2050
QLPYDILWQW KHNQLYKKPD VPLYKKIRSN VYVDVKPLSG YEATTCNCKK 2100
PDDDTRKGCV DDCLNRMIFA ECSPNTCPCG EQCCNQRIQR HEWVQCLERF 2150
RAEEKGWGIR TKEPLKAGQF IIEYLGEVVS EQEFRNRMIE QYHNHSDHYC 2200
LNLDSGMVID SYRMGNEARF INHSCDPNCE MQKWSVNGVY RIGLYALKDM 2250
PAGTELTYDY NFHSFNVEKQ QLCKCGFEKC RGIIGGKSQR VNGLTSSKNS 2300
QPMATHKKSG RSKEKRKSKH KLKKRRGHLS EEPSENINTP TRLTPQLQMK 2350
PMSNRERNFV LKHHVFLVRN WEKIRQKQEE VKHTSDNIHS ASLYTRWNGI 2400
CRDDGNIKSD VFMTQFSALQ TARSVRTRRL AAAEENIEVA RAARLAQIFK 2450
EICDGIISYK DSSRQALAAP LLNLPPKKKN ADYYEKISDP LDLITIEKQI 2500
LTGYYKTVEA FDADMLKVFR NAEKYYGRKS PVGRDVCRLR KAYYNARHEA 2550
SAQIDEIVGE TASEADSSET SVSEKENGHE KDDDVIRCIC GLYKDEGLMI 2600
QCDKCMVWQH CDCMGVNSDV EHYLCEQCDP RPVDREVPMI PRPHYAQPGC 2650
VYFICLLRDD LLLRQGDCVY LMRDSRRTPD GHPVRQSYRL LSHINRDKLD 2700
IFRIEKLWKN EKEERFAFGH HYFRPHETHH SPSRRFYHNE LFRVPLYEII 2750
PLEAVVGTCC VLDLYTYCKG RPKGVKEQDV YICDYRLDKS AHLFYKIHRN 2800
RYPVCTKPYA FDHFPKKLTP KKDFSPHYVP DNYKRNGGRS SWKSERSKPP 2850
LKDLGQEDDA LPLIEEVLAS QEQAANEIPS LEEPEREGAT ANVSEGEKKT 2900
EESSQEPQST CTPEERRHNQ RERLNQILLN LLEKIPGKNA IDVTYLLEEG 2950
SGRKLRRRTL FIPENSFRK 2969
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.

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.
VSP_039421

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2594 – 25941K → N in AAF68983. 1 Publication
Sequence conflicti2697 – 26971D → H in AAF68983. 1 Publication

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 1981-2285, 2436-2561, 2584-2636, 2704-2806.
ModBasei Search...

Protein-protein interaction databases

BioGridi 120969. 6 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.
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

ArrayExpressi Q9NR48.
Bgeei Q9NR48.
CleanExi HS_ASH1L.
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.
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.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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: September 3, 2014
This is version 112 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

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