Skip Header

 
Contribute Send feedback

Reviewed, UniProtKB/Swiss-Prot Q9UBL3 (ASH2L_HUMAN)

Last modified September 2, 2008. Version 66. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Hide | Top

Names and origin

Protein namesRecommended name:
    Set1/Ash2 histone methyltransferase complex subunit ASH2
Alternative name(s):
    ASH2-like protein
Gene names
Name: ASH2L
Synonyms: ASH2L1
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Hide | Top

Protein attributes

Sequence length628 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

Hide | Top

General annotation (Comments)

Function

Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3, but not if the neighboring 'Lys-9' residue is already methylated. May function as a transcriptional regulator. May play a role in hematopoiesis.

Subunit structure

Interacts with HCFC1. Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2/ASH2L and CXXC1/CFP1. Component of MLL-containing complexes (named MLL, ASCOM, MLL2/MLL3 or MLL3/MLL4 complex): at least composed ASH2L, RBBP5, DPY30, WDR5, one or several histone methyltransferases (MLL, MLL2, MLL3 and/or MLL4), and the facultative components MEN1, HCFC1, HCFC2, NCOA6, UTX, PAXIP1/PTIP and C16orf53/PA1.

Subcellular location

NucleusProbable.

Tissue specificity

Ubiquitously expressed. Predominantly expressed in adult heart and testis and fetal lung and liver, with barely detectable expression in adult lung, liver, kidney, prostate, and peripheral leukocytes.

Sequence similarities

Contains 1 B30.2/SPRY domain.

Hide | Top

Ontologies

Keywords

   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
   DomainZinc-finger
   LigandMetal-binding
Zinc

Gene Ontology (GO)

   Biological processhemopoiesis Ref.1

Non-traceable author statement. Source: UniProtKB

regulation of transcription, DNA-dependent Ref.2

Non-traceable author statement. Source: UniProtKB

transcription from RNA polymerase II promoter Ref.2

Traceable author statement. Source: ProtInc

   Cellular componentnucleus Ref.5

Inferred from direct assay. Source: UniProtKB

   Molecular functionDNA binding Ref.2

Inferred by curator. Source: UniProtKB

protein binding Ref.4

Inferred from physical interaction. Source: UniProtKB

transcription regulator activity Ref.2

Non-traceable author statement. Source: UniProtKB

Complete GO annotation...

Hide | Top

Binary interactions

With

Entry

#Exp.

IntAct

Notes

HCFC1P516102EBI-540797,EBI-396176
Mll2Q6PDK21EBI-540797,EBI-996317From a different organism.

Hide | Top

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UBL3-1)

Also known as: ASH2L1;

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.
Isoform 2 (identifier: Q9UBL3-2)

Also known as: ASH2L2;

The sequence of this isoform differs from the canonical sequence as follows:
     1-94: Missing.
     541-573: Missing.
Isoform 3 (identifier: Q9UBL3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-94: Missing.
Notes: No experimental confirmation available.

Hide | Top

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical view

Molecule processing

Chain1 – 628628Set1/Ash2 histone methyltransferase complex subunit ASH2

Regions

Domain360 – 583224B30.2/SPRY
Zinc finger117 – 15034C4-type

Natural variations

Alternative sequence1 – 9494Missing in isoform 2 and isoform 3.
Alternative sequence541 – 57333Missing in isoform 2.

Experimental info

Sequence conflict2121Q → H in AAC13564. Ref.1
Sequence conflict2171M → T in AAC13564. Ref.1
Sequence conflict2921S → T in AAC13563. Ref.1
Sequence conflict3511H → Q in AAC13564. Ref.1
Sequence conflict3601L → I in AAC13564. Ref.1
Sequence conflict3691P → S in AAC13564. Ref.1

Hide | Top

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (ASH2L1) [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 8F5F007430D4B863

FASTA62868,723
        10         20         30         40         50         60 
MAAAGAGPGQ EAGAGPGPGA VANATGAEEG EMKPVAAGAA APPGEGISAA PTVEPSSGEA 

        70         80         90        100        110        120 
EGGEANLVDV SGGLETESSN GKDTLEGAGD TSEVMDTQAG SVDEENGRQL GEVELQCGIC 

       130        140        150        160        170        180 
TKWFTADTFG IDTSSCLPFM TNYSFHCNVC HHSGNTYFLR KQANLKEMCL SALANLTWQS 

       190        200        210        220        230        240 
RTQDEHPKTM FSKDKDIIPF IDKYWECMTT RQRPGKMTWP NNIVKTMSKE RDVFLVKEHP 

       250        260        270        280        290        300 
DPGSKDPEED YPKFGLLDQD LSNIGPAYDN QKQSSAVSTS GNLNGGIAAG SSGKGRGAKR 

       310        320        330        340        350        360 
KQQDGGTTGT TKKARSDPLF SAQRLPPHGY PLEHPFNKDG YRYILAEPDP HAPDPEKLEL 

       370        380        390        400        410        420 
DCWAGKPIPG DLYRACLYER VLLALHDRAP QLKISDDRLT VVGEKGYSMV RASHGVRKGA 

       430        440        450        460        470        480 
WYFEITVDEM PPDTAARLGW SQPLGNLQAP LGYDKFSYSW RSKKGTKFHQ SIGKHYSSGY 

       490        500        510        520        530        540 
GQGDVLGFYI NLPEDTETAK SLPDTYKDKA LIKFKSYLYF EEKDFVDKAE KSLKQTPHSE 

       550        560        570        580        590        600 
IIFYKNGVNQ GVAYKDIFEG VYFPAISLYK SCTVSINFGP CFKYPPKDLT YRPMSDMGWG 

       610        620 
AVVEHTLADV LYHVETEVDG RRSPPWEP

« Hide

Isoform 2 (ASH2L2) [UniParc].

Checksum: BD76059C4DE39703
Show »

50156,477
Isoform 3 [UniParc].

Checksum: 4317F1206E97C897
Show »

53460,208

Hide | Top

References

« Hide 'large scale' references
[1]"ASH2L: alternative splicing and downregulation during induced megakaryocytic differentiation of multipotential leukemia cell lines."
Wang J., Zhou Y., Yin B., Du G., Huang X., Li G., Shen Y., Yuan J., Qiang B.
J. Mol. Med. 79:399-405(2001) [PubMed: 11466562] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
Tissue: Fetal brain.
[2]"Cloning and characterization of ASH2L and ash2l, human and mouse homologs of the Drosophila ash2 gene."
Ikegawa S., Isomura M., Koshizuka Y., Nakamura Y.
Cytogenet. Cell Genet. 84:167-172(1999) [PubMed: 10393421] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), TISSUE SPECIFICITY.
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Skin.
[4]"Human Sin3 deacetylase and trithorax-related Set1/Ash2 histone H3-K4 methyltransferase are tethered together selectively by the cell-proliferation factor HCF-1."
Wysocka J., Myers M.P., Laherty C.D., Eisenman R.N., Herr W.
Genes Dev. 17:896-911(2003) [PubMed: 12670868] [Abstract]
Cited for: FUNCTION, INTERACTION WITH HCFC1.
[5]"Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression."
Yokoyama A., Wang Z., Wysocka J., Sanyal M., Aufiero D.J., Kitabayashi I., Herr W., Cleary M.L.
Mol. Cell. Biol. 24:5639-5649(2004) [PubMed: 15199122] [Abstract]
Cited for: IDENTIFICATION IN THE MLL-LIKE COMPLEX.
[6]"CpG-binding protein (CXXC finger protein 1) is a component of the mammalian Set1 histone H3-Lys4 methyltransferase complex, the analogue of the yeast Set1/COMPASS complex."
Lee J.-H., Skalnik D.G.
J. Biol. Chem. 280:41725-41731(2005) [PubMed: 16253997] [Abstract]
Cited for: IDENTIFICATION IN THE SET1 COMPLEX.
[7]"Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex."
Lee J.-H., Tate C.M., You J.-S., Skalnik D.G.
J. Biol. Chem. 282:13419-13428(2007) [PubMed: 17355966] [Abstract]
Cited for: SUBCELLULAR LOCATION, IDENTIFICATION IN THE SET1 COMPLEX.
[8]"PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex."
Cho Y.-W., Hong T., Hong S., Guo H., Yu H., Kim D., Guszczynski T., Dressler G.R., Copeland T.D., Kalkum M., Ge K.
J. Biol. Chem. 282:20395-20406(2007) [PubMed: 17500065] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE MLL-LIKE COMPLEX.
+Additional computationally mapped references.

Hide | Top

Cross-references

Sequence databases

AF056718 mRNA. Translation: AAC13564.1.
AF056717 mRNA. Translation: AAC13563.1.
AB022785 Genomic DNA. Translation: BAA74520.1.
AB020982 mRNA. Translation: BAA35127.1.
BC015936 mRNA. Translation: AAH15936.1.
RefSeqNP_001098684.1.
NP_004665.2.
UniGeneHs.521530

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

IntActQ9UBL3.

PTM databases

PhosphoSiteQ9UBL3.

Genome annotation databases

EnsemblENSG00000129691. Homo sapiens. [Contig view]
GeneID9070.
KEGGhsa:9070.

Organism-specific databases

H-InvDBHIX0007454.
HGNCHGNC:744. ASH2L.
MIM604782. gene.
PharmGKBPA25044.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMQ9UBL3.
HOVERGENQ9UBL3.

Gene expression databases

ArrayExpressQ9UBL3.
CleanExHS_ASH2L.

Family and domain databases

InterProIPR001870. B302.
IPR003877. SPRY_rcpt.
[Graphical view]
PfamPF00622. SPRY. 1 hit.
[Graphical view]
SMARTSM00449. SPRY. 1 hit.
[Graphical view]
PROSITEPS50188. B302_SPRY. 1 hit.
[Graphical view]
ProDomQ9UBL3.
[Graphical view] [Entries sharing at least one domain]
BLOCKSSearch...

Other Resources

LinkHubQ9UBL3.
SOURCESearch...
ProtoNetSearch...

Hide | Top

Entry information

Entry nameASH2L_HUMAN
AccessionPrimary (citable) accession number: Q9UBL3
Secondary accession number(s): O60659, O60660, Q96B62
Entry history
Integrated into UniProtKB/Swiss-Prot: June 16, 2003
Last sequence update: May 1, 2000
Last modified: September 2, 2008
This is version 66 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Hide | Top

Relevant documents

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

UniProtKB secondary accession numbers

Index of UniProtKB secondary accession numbers

SIMILARITY comments

Index of protein domains and families

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