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Q99929

- ASCL2_HUMAN

UniProt

Q99929 - ASCL2_HUMAN

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Protein

Achaete-scute homolog 2

Gene

ASCL2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  1. E-box binding Source: UniProtKB
  2. sequence-specific DNA binding Source: Ensembl
  3. sequence-specific DNA binding transcription factor activity Source: UniProtKB

GO - Biological processi

  1. negative regulation of Schwann cell proliferation Source: Ensembl
  2. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  3. placenta development Source: UniProtKB
  4. regulation of transcription, DNA-templated Source: UniProtKB
  5. response to hypoxia Source: UniProtKB
  6. somatic stem cell maintenance Source: Ensembl
  7. spongiotrophoblast differentiation Source: Ensembl
  8. spongiotrophoblast layer development Source: UniProtKB
  9. transcription, DNA-templated Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:ASCL2
Synonyms:BHLHA45, HASH2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:739. ASCL2.

Subcellular locationi

Nucleus 1 PublicationPROSITE-ProRule annotation

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25039.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 193193Achaete-scute homolog 2PRO_0000127130Add
BLAST

Proteomic databases

PaxDbiQ99929.
PRIDEiQ99929.

PTM databases

PhosphoSiteiQ99929.

Expressioni

Tissue specificityi

Expressed specifically in the extravillous trophoblasts of the developing placenta.

Gene expression databases

BgeeiQ99929.
CleanExiHS_ASCL2.
GenevestigatoriQ99929.

Interactioni

Subunit structurei

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.2 Publications

Protein-protein interaction databases

BioGridi106922. 8 interactions.
STRINGi9606.ENSP00000332293.

Structurei

3D structure databases

ProteinModelPortaliQ99929.
SMRiQ99929. Positions 54-106.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini50 – 10253bHLHPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi36 – 394Poly-Arg

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG243363.
GeneTreeiENSGT00530000063321.
HOGENOMiHOG000013056.
HOVERGENiHBG050590.
InParanoidiQ99929.
KOiK09067.
OMAiGCEGELS.
OrthoDBiEOG7HHWTC.
PhylomeDBiQ99929.
TreeFamiTF322889.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR015660. ASH.
IPR011598. bHLH_dom.
[Graphical view]
PANTHERiPTHR13935. PTHR13935. 1 hit.
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q99929-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MDGGTLPRSA PPAPPVPVGC AARRRPASPE LLRCSRRRRP ATAETGGGAA
60 70 80 90 100
AVARRNERER NRVKLVNLGF QALRQHVPHG GASKKLSKVE TLRSAVEYIR
110 120 130 140 150
ALQRLLAEHD AVRNALAGGL RPQAVRPSAP RGPPGTTPVA ASPSRASSSP
160 170 180 190
GRGGSSEPGS PRSAYSSDDS GCEGALSPAE RELLDFSSWL GGY
Length:193
Mass (Da):20,185
Last modified:December 1, 2000 - v2
Checksum:iE59A71342E6D46C8
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS7732.1.
RefSeqiNP_005161.1. NM_005170.2.
UniGeneiHs.152475.

Genome annotation databases

EnsembliENST00000331289; ENSP00000332293; ENSG00000183734.
GeneIDi430.
KEGGihsa:430.
UCSCiuc001lvu.3. human.

Polymorphism databases

DMDMi12644476.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS7732.1.
RefSeqi NP_005161.1. NM_005170.2.
UniGenei Hs.152475.

3D structure databases

ProteinModelPortali Q99929.
SMRi Q99929. Positions 54-106.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106922. 8 interactions.
STRINGi 9606.ENSP00000332293.

PTM databases

PhosphoSitei Q99929.

Polymorphism databases

DMDMi 12644476.

Proteomic databases

PaxDbi Q99929.
PRIDEi Q99929.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000331289 ; ENSP00000332293 ; ENSG00000183734 .
GeneIDi 430.
KEGGi hsa:430.
UCSCi uc001lvu.3. human.

Organism-specific databases

CTDi 430.
GeneCardsi GC11M002289.
HGNCi HGNC:739. ASCL2.
MIMi 601886. gene.
neXtProti NX_Q99929.
PharmGKBi PA25039.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG243363.
GeneTreei ENSGT00530000063321.
HOGENOMi HOG000013056.
HOVERGENi HBG050590.
InParanoidi Q99929.
KOi K09067.
OMAi GCEGELS.
OrthoDBi EOG7HHWTC.
PhylomeDBi Q99929.
TreeFami TF322889.

Miscellaneous databases

GeneWikii ASCL2.
GenomeRNAii 430.
NextBioi 1797.
PROi Q99929.
SOURCEi Search...

Gene expression databases

Bgeei Q99929.
CleanExi HS_ASCL2.
Genevestigatori Q99929.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR015660. ASH.
IPR011598. bHLH_dom.
[Graphical view ]
PANTHERi PTHR13935. PTHR13935. 1 hit.
Pfami PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: INTERACTION WITH ZNF335.

Entry informationi

Entry nameiASCL2_HUMAN
AccessioniPrimary (citable) accession number: Q99929
Secondary accession number(s): Q6PEY9, Q9UM68
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 1, 2000
Last modified: October 29, 2014
This is version 118 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3