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Reviewed, UniProtKB/Swiss-Prot Q9NR48 (ASH1L_HUMAN)

Last modified November 3, 2009. Version 67. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Probable histone-lysine N-methyltransferase ASH1L
    EC=2.1.1.43
Alternative name(s):
    Absent small and homeotic disks protein 1 homolog
    ASH1-like protein
      Short name=huASH1
    Lysine N-methyltransferase 2H
Gene names
Name: ASH1L
Synonyms: KIAA1420, KMT2H
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2969 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Histone methyltransferase. Probably methylates 'Lys-4' of histone H3, a specific tag for epigenetic transcriptional activation By similarity.

Catalytic activity

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

Subcellular location

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

Tissue specificity

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

Sequence similarities

Belongs to the histone-lysine methyltransferase family. SET2 subfamily.

Contains 3 A.T hook DNA-binding domains.

Contains 1 AWS domain.

Contains 1 BAH domain.

Contains 1 bromo domain.

Contains 1 PHD-type zinc finger.

Contains 1 post-SET domain.

Contains 1 SET domain.

Sequence caution

The sequence CAI12716.2 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI13211.2 differs from that shown. Reason: Erroneous gene model prediction.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 29692969Probable histone-lysine N-methyltransferase ASH1L
PRO_0000259516

Regions

Domain2091 – 214252AWS
Domain2144 – 2265122SET
Domain2269 – 228517Post-SET
Domain2463 – 253371Bromo
Domain2661 – 2798138BAH
DNA binding887 – 89913A.T hook 1
DNA binding1347 – 135913A.T hook 2
DNA binding1847 – 185913A.T hook 3
Zinc finger2585 – 263147PHD-type
Compositional bias1380 – 142445Pro-rich
Compositional bias1580 – 1791212Ser-rich

Amino acid modifications

Modified residue221Phosphoserine Ref.8
Modified residue16491Phosphoserine Ref.6
Modified residue16811Phosphoserine Ref.7
Cross-link402Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.5
Cross-link406Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.5

Natural variations

Natural variant14161S → P: dbSNP rs13373934.
VAR_055905
Natural variant17711T → A: dbSNP rs4971053. Ref.1
VAR_028949

Experimental info

Sequence conflict25941K → N in AAF68983. Ref.1
Sequence conflict26971D → H in AAF68983. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9NR48-1 [UniParc].

Last modified October 31, 2006. Version 2.
Checksum: DA0135C72A2E2065

FASTA2,969332,790
        10         20         30         40         50         60 
MDPRNTAMLG LGSDSEGFSR KSPSAISTGT LVSKREVELE KNTKEEEDLR KRNRERNIEA 

        70         80         90        100        110        120 
GKDDGLTDAQ QQFSVKETNF SEGNLKLKIG LQAKRTKKPP KNLENYVCRP AIKTTIKHPR 

       130        140        150        160        170        180 
KALKSGKMTD EKNEHCPSKR DPSKLYKKAD DVAAIECQSE EVIRLHSQGE NNPLSKKLSP 

       190        200        210        220        230        240 
VHSEMADYIN ATPSTLLGSR DPDLKDRALL NGGTSVTEKL AQLIATCPPS KSSKTKPKKL 

       250        260        270        280        290        300 
GTGTTAGLVS KDLIRKAGVG SVAGIIHKDL IKKPTISTAV GLVTKDPGKK PVFNAAVGLV 

       310        320        330        340        350        360 
NKDSVKKLGT GTTAVFINKN LGKKPGTITT VGLLSKDSGK KLGIGIVPGL VHKESGKKLG 

       370        380        390        400        410        420 
LGTVVGLVNK DLGKKLGSTV GLVAKDCAKK IVASSAMGLV NKDIGKKLMS CPLAGLISKD 

       430        440        450        460        470        480 
AINLKAEALL PTQEPLKASC STNINNQESQ ELSESLKDSA TSKTFEKNVV RQNKESILEK 

       490        500        510        520        530        540 
FSVRKEIINL EKEMFNEGTC IQQDSFSSSE KGSYETSKHE KQPPVYCTSP DFKMGGASDV 

       550        560        570        580        590        600 
STAKSPFSAV GESNLPSPSP TVSVNPLTRS PPETSSQLAP NPLLLSSTTE LIEEISESVG 

       610        620        630        640        650        660 
KNQFTSESTH LNVGHRSVGH SISIECKGID KEVNDSKTTH IDIPRISSSL GKKPSLTSES 

       670        680        690        700        710        720 
SIHTITPSVV NFTSLFSNKP FLKLGAVSAS DKHCQVAESL STSLQSKPLK KRKGRKPRWT 

       730        740        750        760        770        780 
KVVARSTCRS PKGLELERSE LFKNVSCSSL SNSNSEPAKF MKNIGPPSFV DHDFLKRRLP 

       790        800        810        820        830        840 
KLSKSTAPSL ALLADSEKPS HKSFATHKLS SSMCVSSDLL SDIYKPKRGR PKSKEMPQLE 

       850        860        870        880        890        900 
GPPKRTLKIP ASKVFSLQSK EEQEPPILQP EIEIPSFKQG LSVSPFPKKR GRPKRQMRSP 

       910        920        930        940        950        960 
VKMKPPVLSV APFVATESPS KLESESDNHR SSSDFFESED QLQDPDDLDD SHRPSVCSMS 

       970        980        990       1000       1010       1020 
DLEMEPDKKI TKRNNGQLMK TIIRKINKMK TLKRKKLLNQ ILSSSVESSN KGKVQSKLHN 

      1030       1040       1050       1060       1070       1080 
TVSSLAATFG SKLGQQINVS KKGTIYIGKR RGRKPKTVLN GILSGSPTSL AVLEQTAQQA 

      1090       1100       1110       1120       1130       1140 
AGSALGQILP PLLPSSASSS EILPSPICSQ SSGTSGGQSP VSSDAGFVEP SSVPYLHLHS 

      1150       1160       1170       1180       1190       1200 
RQGSMIQTLA MKKASKGRRR LSPPTLLPNS PSHLSELTSL KEATPSPISE SHSDETIPSD 

      1210       1220       1230       1240       1250       1260 
SGIGTDNNST SDRAEKFCGQ KKRRHSFEHV SLIPPETSTV LSSLKEKHKH KCKRRNHDYL 

      1270       1280       1290       1300       1310       1320 
SYDKMKRQKR KRKKKYPQLR NRQDPDFIAE LEELISRLSE IRITHRSHHF IPRDLLPTIF 

      1330       1340       1350       1360       1370       1380 
RINFNSFYTH PSFPLDPLHY IRKPDLKKKR GRPPKMREAM AEMPFMHSLS FPLSSTGFYP 

      1390       1400       1410       1420       1430       1440 
SYGMPYSPSP LTAAPIGLGY YGRYPPTLYP PPPSPSFTTP LPPPSYMHAG HLLLNPAKYH 

      1450       1460       1470       1480       1490       1500 
KKKHKLLRQE AFLTTSRTPL LSMSTYPSVP PEMAYGWMVE HKHRHRHKHR EHRSSEQPQV 

      1510       1520       1530       1540       1550       1560 
SMDTGSSRSV LESLKRYRFG KDAVGERYKH KEKHRCHMSC PHLSPSKSLI NREEQWVHRE 

      1570       1580       1590       1600       1610       1620 
PSESSPLALG LQTPLQIDCS ESSPSLSLGG FTPNSEPASS DEHTNLFTSA IGSCRVSNPN 

      1630       1640       1650       1660       1670       1680 
SSGRKKLTDS PGLFSAQDTS LNRLHRKESL PSNERAVQTL AGSQPTSDKP SQRPSESTNC 

      1690       1700       1710       1720       1730       1740 
SPTRKRSSSE STSSTVNGVP SRSPRLVASG DDSVDSLLQR MVQNEDQEPM EKSIDAVIAT 

      1750       1760       1770       1780       1790       1800 
ASAPPSSSPG RSHSKDRTLG KPDSLLVPAV TSDSCNNSIS LLSEKLTSSC SPHHIKRSVV 

      1810       1820       1830       1840       1850       1860 
EAMQRQARKM CNYDKILATK KNLDHVNKIL KAKKLQRQAR TGNNFVKRRP GRPRKCPLQA 

      1870       1880       1890       1900       1910       1920 
VVSMQAFQAA QFVNPELNRD EEGAALHLSP DTVTDVIEAV VQSVNLNPEH KKGLKRKGWL 

      1930       1940       1950       1960       1970       1980 
LEEQTRKKQK PLPEEEEQEN NKSFNEAPVE IPSPSETPAK PSEPESTLQP VLSLIPREKK 

      1990       2000       2010       2020       2030       2040 
PPRPPKKKYQ KAGLYSDVYK TTDPKSRLIQ LKKEKLEYTP GEHEYGLFPA PIHVVFFVSG 

      2050       2060       2070       2080       2090       2100 
KYLRQKRIDF QLPYDILWQW KHNQLYKKPD VPLYKKIRSN VYVDVKPLSG YEATTCNCKK 

      2110       2120       2130       2140       2150       2160 
PDDDTRKGCV DDCLNRMIFA ECSPNTCPCG EQCCNQRIQR HEWVQCLERF RAEEKGWGIR 

      2170       2180       2190       2200       2210       2220 
TKEPLKAGQF IIEYLGEVVS EQEFRNRMIE QYHNHSDHYC LNLDSGMVID SYRMGNEARF 

      2230       2240       2250       2260       2270       2280 
INHSCDPNCE MQKWSVNGVY RIGLYALKDM PAGTELTYDY NFHSFNVEKQ QLCKCGFEKC 

      2290       2300       2310       2320       2330       2340 
RGIIGGKSQR VNGLTSSKNS QPMATHKKSG RSKEKRKSKH KLKKRRGHLS EEPSENINTP 

      2350       2360       2370       2380       2390       2400 
TRLTPQLQMK PMSNRERNFV LKHHVFLVRN WEKIRQKQEE VKHTSDNIHS ASLYTRWNGI 

      2410       2420       2430       2440       2450       2460 
CRDDGNIKSD VFMTQFSALQ TARSVRTRRL AAAEENIEVA RAARLAQIFK EICDGIISYK 

      2470       2480       2490       2500       2510       2520 
DSSRQALAAP LLNLPPKKKN ADYYEKISDP LDLITIEKQI LTGYYKTVEA FDADMLKVFR 

      2530       2540       2550       2560       2570       2580 
NAEKYYGRKS PVGRDVCRLR KAYYNARHEA SAQIDEIVGE TASEADSSET SVSEKENGHE 

      2590       2600       2610       2620       2630       2640 
KDDDVIRCIC GLYKDEGLMI QCDKCMVWQH CDCMGVNSDV EHYLCEQCDP RPVDREVPMI 

      2650       2660       2670       2680       2690       2700 
PRPHYAQPGC VYFICLLRDD LLLRQGDCVY LMRDSRRTPD GHPVRQSYRL LSHINRDKLD 

      2710       2720       2730       2740       2750       2760 
IFRIEKLWKN EKEERFAFGH HYFRPHETHH SPSRRFYHNE LFRVPLYEII PLEAVVGTCC 

      2770       2780       2790       2800       2810       2820 
VLDLYTYCKG RPKGVKEQDV YICDYRLDKS AHLFYKIHRN RYPVCTKPYA FDHFPKKLTP 

      2830       2840       2850       2860       2870       2880 
KKDFSPHYVP DNYKRNGGRS SWKSERSKPP LKDLGQEDDA LPLIEEVLAS QEQAANEIPS 

      2890       2900       2910       2920       2930       2940 
LEEPEREGAT ANVSEGEKKT EESSQEPQST CTPEERRHNQ RERLNQILLN LLEKIPGKNA 

      2950       2960 
IDVTYLLEEG SGRKLRRRTL FIPENSFRK 

« Hide

References

« Hide 'large scale' references
[1]"huASH1 protein, a putative transcription factor encoded by a human homologue of the Drosophila ash1 gene, localizes to both nuclei and cell-cell tight junctions."
Nakamura T., Blechman J., Tada S., Rozovskaia T., Itoyama T., Bullrich F., Mazo A., Croce C.M., Geiger B., Canaani E.
Proc. Natl. Acad. Sci. U.S.A. 97:7284-7289(2000) [PubMed: 10860993] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], 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. expand/collapse author list , 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: 16710414] [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: 10718198] [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]"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: 17203973] [Abstract]
Cited for: UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-402 AND LYS-406, MASS SPECTROMETRY.
Tissue: Lung adenocarcinoma.
[6]"Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis."
Wang B., Malik R., Nigg E.A., Korner R.
Anal. Chem. 80:9526-9533(2008) [PubMed: 19007248] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1649, MASS SPECTROMETRY.
[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: 18220336] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1681, MASS SPECTROMETRY.
[8]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-22, MASS SPECTROMETRY.
+Additional computationally mapped references.

Cross-references

Sequence databases

AF257305 mRNA. Translation: AAF68983.1.
AL139410, AL353807 Genomic DNA. Translation: CAI12716.2. Sequence problems.
AL139410, AL353807 Genomic DNA. Translation: CAI12722.1.
AL353807, AL139410 Genomic DNA. Translation: CAI13211.2. Sequence problems.
AL353807, AL139410 Genomic DNA. Translation: CAI13212.1.
AB037841 mRNA. Translation: BAA92658.1. Different initiation.
AB209068 mRNA. Translation: BAD92305.1.
IPIIPI00020546.
RefSeqNP_060959.2.
UniGeneHs.491060

3D structure databases

HSSPHSSP built from PDB template 1PEG based on UniProtKB Q8X225.
ModBaseSearch...

Protein-protein interaction databases

STRINGQ9NR48.

PTM databases

PhosphoSiteQ9NR48.

Proteomic databases

PRIDEQ9NR48.

Genome annotation databases

EnsemblENST00000368346; ENSP00000357330; ENSG00000116539; Homo sapiens. [Genome view]
ENST00000392403; ENSP00000376204; ENSG00000116539; Homo sapiens. [Genome view]
GeneID55870.
KEGGhsa:55870.
NMPDRfig|9606.3.peg.2232.
UCSCuc001fkt.1. human.

Organism-specific databases

CTD55870.
GeneCardsGC01M153571.
H-InvDBHIX0001130.
HGNCHGNC:19088. ASH1L.
HPAHPA004806.
MIM607999. gene.
PharmGKBPA134891064.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

HOVERGENQ9NR48.
OMASKLHNTV.

Enzyme and pathway databases

BRENDA2.1.1.43. 247.

Gene expression databases

ArrayExpressQ9NR48.
BgeeQ9NR48.
CleanExHS_ASH1L.
GenevestigatorQ9NR48.
GermOnlineENSG00000116539. Homo sapiens.

Family and domain databases

InterProIPR017956. AT_hook_DNA-bd_motif.
IPR006560. AWS.
IPR001025. BAH.
IPR001487. Bromodomain.
IPR018359. Bromodomain_CS.
IPR003616. Post-SET_Zn_bd.
IPR001214. SET.
IPR019786. Zinc_finger_PHD-type_CS.
IPR001965. Znf_PHD.
IPR019787. Znf_PHD-finger.
[Graphical view]
Gene3DG3DSA:1.20.920.10. Bromodomain. 1 hit.
PfamPF02178. AT_hook. 1 hit.
PF01426. BAH. 1 hit.
PF00439. Bromodomain. 1 hit.
PF00628. PHD. 1 hit.
PF00856. SET. 1 hit.
[Graphical view]
SMARTSM00384. 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]
PROSITEPS51215. AWS. 1 hit.
PS51038. BAH. 1 hit.
PS00633. BROMODOMAIN_1. False negative.
PS50014. BROMODOMAIN_2. 1 hit.
PS50868. POST_SET. 1 hit.
PS50280. SET. 1 hit.
PS01359. ZF_PHD_1. 1 hit.
PS50016. ZF_PHD_2. False negative.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio61186.
SOURCESearch...

Entry information

Entry nameASH1L_HUMAN
AccessionPrimary (citable) accession number: Q9NR48
Secondary accession number(s): Q59GP1 expand/collapse secondary AC list , Q5T714, Q5T715, Q9P2C7
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: November 3, 2009
This is version 67 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

Relevant documents

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

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

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents