[1]	NUCLEOTIDE SEQUENCE [MRNA]. TISSUE=Thyroid carcinoma; DOI=10.1073/pnas.90.12.5648; PubMed=8390674 [NCBI, ExPASy, EBI, Israel, Japan] Ball D.W., Azzoli C.G., Baylin S.B., Chi D., Dou S., Donis-Keller H., Cumaraswamy A., Borges M., Nelkin B.D.; "Identification of a human achaete-scute homolog highly expressed in neuroendocrine tumors."; Proc. Natl. Acad. Sci. U.S.A. 90:5648-5652(1993).
[2]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. TISSUE=Lung; DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team; "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."; Genome Res. 14:2121-2127(2004).

Comments

FUNCTION: May play a role at early stages of development of specific neural lineages in most regions of the CNS, and of several lineages in the PNS. Essential for the generation of olfactory and autonomic neurons. Activates transcription by binding to the E box (5'-CANNTG-3').
SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3.
INTERACTION:
P15923:TCF3; NbExp=1; IntAct=EBI-957042, EBI-769630;
P15884:TCF4; NbExp=4; IntAct=EBI-957042, EBI-533224;
SUBCELLULAR LOCATION: Nucleus (Probable).
SIMILARITY: Contains 1 basic helix-loop-helix (bHLH) domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ASCL1ID713ch12q23.html";.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

L08424; AAA58376.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC001638; -; NOT_ANNOTATED_CDS; mRNA.	[EMBL / GenBank / DDBJ]
BC002341; AAH02341.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC003134; AAH03134.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC004425; AAH04425.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC031299; AAH31299.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI00032964; -.

A48279; A48279.

NP_004307.2; -.

3D structure databases

ModBase

P50553.

Protein-protein interaction databases

IntAct

P50553; 3.

PTM databases

PhosphoSite

P50553; -.

Organism-specific databases

GC12P101856; -.

HIX0010931; -.

HGNC:738; ASCL1.

100790; gene. [NCBI / EBI]

Orphanet

661; Ondine syndrome.

PharmGKB

PA25038; -.

Gene expression databases

P50553; -.

P50553; -.

HS_ASCL1; -.

ENSG00000139352; Homo sapiens.

Ontologies

GO:0005634;	Cellular component: nucleus (inferred from electronic annotation from UniProtKB-SubCell).
GO:0005515;	Molecular function: protein binding (inferred from physical interaction from IntAct).
GO:0003700;	Molecular function: transcription factor activity (non-traceable author statement from ProtInc).
GO:0006350;	Biological process: transcription (inferred from electronic annotation from UniProtKB-KW).
QuickGo view.

Family and domain databases

InterPro

IPR015660; ASH.
IPR001092; HLH_basic.
IPR011598; HLH_DNA_bd.
Graphical view of domain structure.

Gene3D

G3DSA:4.10.280.10; HLH_DNA_bd; 1.

PANTHER

PTHR13935; ASH; 1.

Pfam

PF00010; HLH; 1.
Pfam graphical view of domain structure.

SMART

SM00353; HLH; 1.
SMART graphical view of domain structure.

PROSITE

PS50888; HLH; 1.
PROSITE graphical view of domain structure (profiles).

Genome annotation databases

Ensembl

ENSG00000139352; Homo sapiens. [Contig view]

GeneID

429; -.

KEGG

hsa:429; -.

Phylogenomic databases

HOGENOM

P50553; -.

HOVERGEN

P50553; -.

OMA

P50553; REHVPNG.

Other

1793; -.

ASCL1; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

Activator; Developmental protein; Differentiation; DNA-binding; Neurogenesis; Nucleus; Polymorphism; Transcription; Transcription regulation.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 236`	`236`	`Achaete-scute homolog 1.`	`PRO_0000127126`
`DOMAIN`	`132 171`	`40`	`Helix-loop-helix motif.`
`DNA_BIND`	`121 131`	`11`	`Basic motif.`
`COMPBIAS`	`33 47`	`15`	`Poly-Ala.`
`COMPBIAS`	`51 62`	`12`	`Poly-Gln.`
`VARIANT`	`158 158`	`1`	`E -> G (in dbSNP:rs1803157 [NCBI]).`	`VAR_013179`
`CONFLICT`	`62 62`		`Q -> QQQ (in Ref. 1).`

Sequence information

Length: 236 AA [This is the length of the unprocessed precursor]

Molecular weight: 25454 Da [This is the MW of the unprocessed precursor]

CRC64: A7D784329305B49A [This is a checksum on the sequence]

        10         20         30         40         50         60 
MESSAKMESG GAGQQPQPQP QQPFLPPAAC FFATAAAAAA AAAAAAAQSA QQQQQQQQQQ 

        70         80         90        100        110        120 
QQAPQLRPAA DGQPSGGGHK SAPKQVKRQR SSSPELMRCK RRLNFSGFGY SLPQQQPAAV 

       130        140        150        160        170        180 
ARRNERERNR VKLVNLGFAT LREHVPNGAA NKKMSKVETL RSAVEYIRAL QQLLDEHDAV 

       190        200        210        220        230 
SAAFQAGVLS PTISPNYSND LNSMAGSPVS SYSSDEGSYD PLSPEEQELL DFTNWF

P50553 in FASTA format

View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools