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Q99929 (ASCL2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Achaete-scute homolog 2

Short name=ASH-2
Short name=hASH2
Alternative name(s):
Class A basic helix-loop-helix protein 45
Short name=bHLHa45
Mash2
Gene names
Name:ASCL2
Synonyms:BHLHA45, HASH2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length193 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

AS-C proteins are involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system.

Subunit structure

Efficient DNA binding requires dimerization with another bHLH protein. Interacts with SETD1A.Part of a complex composed at least of ASCL2, C11orf30/EMSY, HCFC1, HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may have a histone H3-specific methyltransferase activity. Ref.5 Ref.6

Subcellular location

Nucleus Ref.2.

Tissue specificity

Expressed specifically in the extravillous trophoblasts of the developing placenta.

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
   Biological processDifferentiation
Neurogenesis
   Cellular componentNucleus
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processnegative regulation of Schwann cell proliferation

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 14561729. Source: UniProtKB

placenta development

Non-traceable author statement PubMed 14561729. Source: UniProtKB

regulation of transcription, DNA-templated

Non-traceable author statement Ref.4. Source: UniProtKB

response to hypoxia

Inferred from expression pattern PubMed 14561729. Source: UniProtKB

somatic stem cell maintenance

Inferred from electronic annotation. Source: Ensembl

spongiotrophoblast differentiation

Inferred from electronic annotation. Source: Ensembl

spongiotrophoblast layer development

Inferred from expression pattern PubMed 12917334. Source: UniProtKB

transcription, DNA-templated

Inferred from direct assay PubMed 14561729. Source: UniProtKB

   Cellular_componentcytoplasm

Inferred from direct assay PubMed 12917334. Source: UniProtKB

nucleus

Inferred from direct assay Ref.2. Source: UniProtKB

   Molecular_functionE-box binding

Inferred from direct assay PubMed 14561729. Source: UniProtKB

sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

sequence-specific DNA binding transcription factor activity

Non-traceable author statement Ref.4. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 193193Achaete-scute homolog 2
PRO_0000127130

Regions

Domain50 – 10253bHLH
Compositional bias36 – 394Poly-Arg

Sequences

Sequence LengthMass (Da)Tools
Q99929 [UniParc].

Last modified December 1, 2000. Version 2.
Checksum: E59A71342E6D46C8

FASTA19320,185
        10         20         30         40         50         60 
MDGGTLPRSA PPAPPVPVGC AARRRPASPE LLRCSRRRRP ATAETGGGAA AVARRNERER 

        70         80         90        100        110        120 
NRVKLVNLGF QALRQHVPHG GASKKLSKVE TLRSAVEYIR ALQRLLAEHD AVRNALAGGL 

       130        140        150        160        170        180 
RPQAVRPSAP RGPPGTTPVA ASPSRASSSP GRGGSSEPGS PRSAYSSDDS GCEGALSPAE 

       190 
RELLDFSSWL GGY 

« Hide

References

« Hide 'large scale' references
[1]"The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts."
Alders M., Hodges M., Hadjantonakis A.-K., Postmus J., van Wijk I.J., Bliek J., de Meulemeester M., Westerveld A., Guillemot F., Oudejans C.B., Little P., Mannens M.
Hum. Mol. Genet. 6:859-867(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"The human Achaete Scute homolog 2 gene contains two promotors, generating overlapping transcripts and encoding two proteins with different nuclear localization."
Westerman B.A., Poutsma A., Looijenga L.H., Wouters D., van Wijk I.J., Oudejans C.B.
Placenta 22:511-518(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], SUBCELLULAR LOCATION.
[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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]"Genomic cloning and localization to chromosome 11p15.5 of the human achaete-scute homolog 2 (ASCL2)."
Miyamoto T., Jinno Y., Sasaki T., Ikeda Y., Masuzaki H., Niikawa N., Ishikawa M.
Cytogenet. Cell Genet. 73:312-314(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 34-101.
[5]"Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation."
Garapaty S., Xu C.F., Trojer P., Mahajan M.A., Neubert T.A., Samuels H.H.
J. Biol. Chem. 284:7542-7552(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH HCFC1; MKI67; C11ORF30; MATR3; HSPA8; ZNF335; CCAR2; ZNF335; RBBP5 AND WDR5.
[6]"Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation."
Yang Y.J., Baltus A.E., Mathew R.S., Murphy E.A., Evrony G.D., Gonzalez D.M., Wang E.P., Marshall-Walker C.A., Barry B.J., Murn J., Tatarakis A., Mahajan M.A., Samuels H.H., Shi Y., Golden J.A., Mahajnah M., Shenhav R., Walsh C.A.
Cell 151:1097-1112(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH ZNF335.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U77629 Genomic DNA. Translation: AAB86993.1.
AF442769 Genomic DNA. Translation: AAL35362.1.
BC057801 mRNA. Translation: AAH57801.2.
BC136561 mRNA. Translation: AAI36562.1.
BC136567 mRNA. Translation: AAI36568.1.
S82817 Genomic DNA. Translation: AAB39362.1.
RefSeqNP_005161.1. NM_005170.2.
UniGeneHs.152475.

3D structure databases

ProteinModelPortalQ99929.
SMRQ99929. Positions 54-106.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106922. 8 interactions.
STRING9606.ENSP00000332293.

PTM databases

PhosphoSiteQ99929.

Polymorphism databases

DMDM12644476.

Proteomic databases

PaxDbQ99929.
PRIDEQ99929.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000331289; ENSP00000332293; ENSG00000183734.
GeneID430.
KEGGhsa:430.
UCSCuc001lvu.3. human.

Organism-specific databases

CTD430.
GeneCardsGC11M002289.
HGNCHGNC:739. ASCL2.
MIM601886. gene.
neXtProtNX_Q99929.
PharmGKBPA25039.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG243363.
HOGENOMHOG000013056.
HOVERGENHBG050590.
InParanoidQ99929.
KOK09067.
OMAGCEGELS.
OrthoDBEOG7HHWTC.
PhylomeDBQ99929.
TreeFamTF322889.

Gene expression databases

BgeeQ99929.
CleanExHS_ASCL2.
GenevestigatorQ99929.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR015660. ASH.
IPR011598. bHLH_dom.
[Graphical view]
PANTHERPTHR13935. PTHR13935. 1 hit.
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiASCL2.
GenomeRNAi430.
NextBio1797.
PROQ99929.
SOURCESearch...

Entry information

Entry nameASCL2_HUMAN
AccessionPrimary (citable) accession number: Q99929
Secondary accession number(s): Q6PEY9, Q9UM68
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 1, 2000
Last modified: April 16, 2014
This is version 115 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM