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P50553 (ASCL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 134. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Achaete-scute homolog 1

Short name=ASH-1
Short name=hASH1
Alternative name(s):
Class A basic helix-loop-helix protein 46
Short name=bHLHa46
Gene names
Name:ASCL1
Synonyms:ASH1, BHLHA46, HASH1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length236 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcriptional regulator. 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. Involved in the initiation of neuronal differentiation. Mediates transcription activation by binding to the E box (5'-CANNTG-3').

Subunit structure

Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3.

Subcellular location

Nucleus Probable.

Sequence similarities

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

Ontologies

Keywords
   Biological processDifferentiation
Neurogenesis
Transcription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   LigandDNA-binding
   Molecular functionActivator
Developmental protein
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processNotch signaling pathway

Inferred from direct assay PubMed 16160079. Source: UniProtKB

adrenal chromaffin cell differentiation

Inferred from electronic annotation. Source: Ensembl

carotid body glomus cell differentiation

Inferred from electronic annotation. Source: Ensembl

cellular response to magnetism

Inferred from electronic annotation. Source: Ensembl

central nervous system neuron development

Inferred from electronic annotation. Source: Ensembl

cerebral cortex GABAergic interneuron differentiation

Inferred from expression pattern PubMed 12050665. Source: UniProtKB

cerebral cortex development

Inferred from electronic annotation. Source: Ensembl

forebrain neuron differentiation

Inferred from electronic annotation. Source: Ensembl

lung epithelial cell differentiation

Non-traceable author statement PubMed 12858003. Source: UniProtKB

lung neuroendocrine cell differentiation

Inferred from electronic annotation. Source: Ensembl

musculoskeletal movement, spinal reflex action

Inferred from electronic annotation. Source: Ensembl

negative regulation of apoptotic process

Inferred from mutant phenotype PubMed 17507989. Source: UniProtKB

negative regulation of neuron differentiation

Inferred from direct assay PubMed 12000752. Source: UniProtKB

negative regulation of transcription, DNA-templated

Inferred from direct assay PubMed 11736660. Source: UniProtKB

neuroblast fate determination

Inferred from electronic annotation. Source: Ensembl

neuroblast proliferation

Inferred from electronic annotation. Source: Ensembl

neurogenesis

Inferred from direct assay PubMed 19008346. Source: UniProtKB

neuron fate specification

Inferred from electronic annotation. Source: Ensembl

neuron migration

Inferred from electronic annotation. Source: Ensembl

noradrenergic neuron development

Inferred from sequence or structural similarity. Source: UniProtKB

noradrenergic neuron fate commitment

Inferred from mutant phenotype PubMed 14532329. Source: UniProtKB

olfactory pit development

Inferred from electronic annotation. Source: Ensembl

oligodendrocyte development

Inferred from electronic annotation. Source: Ensembl

pattern specification process

Inferred from electronic annotation. Source: Ensembl

positive regulation of Notch signaling pathway

Inferred from electronic annotation. Source: Ensembl

positive regulation of cell cycle

Inferred from electronic annotation. Source: Ensembl

positive regulation of neural precursor cell proliferation

Inferred from electronic annotation. Source: Ensembl

positive regulation of neurogenesis

Inferred from electronic annotation. Source: Ensembl

positive regulation of neuron apoptotic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of neuron differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 10903890. Source: UniProtKB

regulation of gene expression

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of timing of subpallium neuron differentiation

Inferred from electronic annotation. Source: Ensembl

response to epidermal growth factor

Inferred from electronic annotation. Source: Ensembl

response to folic acid

Inferred from electronic annotation. Source: Ensembl

response to lithium ion

Inferred from electronic annotation. Source: Ensembl

response to retinoic acid

Inferred from expression pattern PubMed 12000752. Source: UniProtKB

spinal cord association neuron differentiation

Inferred from electronic annotation. Source: Ensembl

spinal cord oligodendrocyte cell fate specification

Inferred from electronic annotation. Source: Ensembl

stomach neuroendocrine cell differentiation

Inferred from electronic annotation. Source: Ensembl

subpallium neuron fate commitment

Inferred from electronic annotation. Source: Ensembl

sympathetic ganglion development

Inferred from sequence or structural similarity. Source: UniProtKB

sympathetic nervous system development

Non-traceable author statement PubMed 10903890. Source: UniProtKB

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

vestibular nucleus development

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentneuronal cell body

Inferred from electronic annotation. Source: Ensembl

nucleus

Inferred from direct assay PubMed 12858003PubMed 17507989PubMed 18311112. Source: UniProtKB

   Molecular_functionDNA binding

Inferred from sequence or structural similarity. Source: UniProtKB

E-box binding

Inferred from direct assay PubMed 10903890PubMed 11736660. Source: UniProtKB

bHLH transcription factor binding

Inferred from physical interaction PubMed 10903890PubMed 11940670. Source: UniProtKB

double-stranded DNA binding

Inferred from electronic annotation. Source: Ensembl

sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

sequence-specific DNA binding transcription factor activity

Inferred from direct assay PubMed 10903890. Source: UniProtKB

transcription factor binding transcription factor activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Binary interactions

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 236236Achaete-scute homolog 1
PRO_0000127126

Regions

Domain118 – 17053bHLH
Compositional bias33 – 4715Poly-Ala
Compositional bias51 – 6212Poly-Gln

Amino acid modifications

Modified residue1561N6-acetyllysine By similarity

Natural variations

Natural variant1581E → G.
Corresponds to variant rs1803157 [ dbSNP | Ensembl ].
VAR_013179

Experimental info

Sequence conflict621Q → QQQ Ref.1

Sequences

Sequence LengthMass (Da)Tools
P50553 [UniParc].

Last modified May 2, 2002. Version 2.
Checksum: A7D784329305B49A

FASTA23625,454
        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 

« Hide

References

« Hide 'large scale' references
[1]"Identification of a human achaete-scute homolog highly expressed in neuroendocrine tumors."
Ball D.W., Azzoli C.G., Baylin S.B., Chi D., Dou S., Donis-Keller H., Cumaraswamy A., Borges M., Nelkin B.D.
Proc. Natl. Acad. Sci. U.S.A. 90:5648-5652(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Thyroid carcinoma.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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].
Tissue: Lung.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
L08424 mRNA. Translation: AAA58376.1.
AK290539 mRNA. Translation: BAF83228.1.
CH471054 Genomic DNA. Translation: EAW97703.1.
BC001638 mRNA. No translation available.
BC002341 mRNA. Translation: AAH02341.1.
BC003134 mRNA. Translation: AAH03134.1.
BC004425 mRNA. Translation: AAH04425.1.
BC031299 mRNA. Translation: AAH31299.1.
PIRA48279.
RefSeqNP_004307.2. NM_004316.3.
UniGeneHs.703025.

3D structure databases

ProteinModelPortalP50553.
SMRP50553. Positions 122-174.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106921. 5 interactions.
IntActP50553. 2 interactions.
STRING9606.ENSP00000266744.

PTM databases

PhosphoSiteP50553.

Polymorphism databases

DMDM20455478.

Proteomic databases

PaxDbP50553.
PRIDEP50553.

Protocols and materials databases

DNASU429.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000266744; ENSP00000266744; ENSG00000139352.
GeneID429.
KEGGhsa:429.
UCSCuc001tjr.4. human.

Organism-specific databases

CTD429.
GeneCardsGC12P103352.
HGNCHGNC:738. ASCL1.
HPAHPA029217.
MIM100790. gene.
neXtProtNX_P50553.
Orphanet99803. Haddad syndrome.
661. Ondine syndrome.
PharmGKBPA26416.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG243363.
HOGENOMHOG000013056.
HOVERGENHBG050590.
InParanoidP50553.
KOK09067.
OMARCKRRLN.
OrthoDBEOG7RFTMH.
PhylomeDBP50553.
TreeFamTF322889.

Enzyme and pathway databases

SignaLinkP50553.

Gene expression databases

BgeeP50553.
CleanExHS_ASCL1.
GenevestigatorP50553.

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

GeneWikiASCL1.
GenomeRNAi429.
NextBio1793.
PROP50553.
SOURCESearch...

Entry information

Entry nameASCL1_HUMAN
AccessionPrimary (citable) accession number: P50553
Secondary accession number(s): A8K3C4, Q9BQ30
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 2, 2002
Last modified: April 16, 2014
This is version 134 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM