P50553 (ASCL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	236 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Differentiation Neurogenesis Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Ligand	DNA-binding
Molecular function	Activator Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Notch signaling pathway Inferred from direct assay PubMed 16160079. Source: UniProtKB adrenal chromaffin cell differentiation Inferred from electronic annotation. Source: Compara carotid body glomus cell differentiation Inferred from electronic annotation. Source: Compara cellular response to magnetism Inferred from electronic annotation. Source: Compara central nervous system neuron development Inferred from electronic annotation. Source: Compara cerebral cortex GABAergic interneuron differentiation Inferred from expression pattern PubMed 12050665. Source: UniProtKB cerebral cortex development Inferred from electronic annotation. Source: Compara forebrain neuron differentiation Inferred from electronic annotation. Source: Compara lung epithelial cell differentiation Non-traceable author statement PubMed 12858003. Source: UniProtKB lung neuroendocrine cell differentiation Inferred from electronic annotation. Source: Compara 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-dependent Inferred from direct assay PubMed 11736660. Source: UniProtKB neuroblast fate determination Inferred from electronic annotation. Source: Compara neuroblast proliferation Inferred from electronic annotation. Source: Compara neuron fate specification Inferred from electronic annotation. Source: Compara neuron migration Inferred from electronic annotation. Source: Compara noradrenergic neuron fate commitment Inferred from mutant phenotype PubMed 14532329. Source: UniProtKB olfactory pit development Inferred from electronic annotation. Source: Compara oligodendrocyte development Inferred from electronic annotation. Source: Compara pattern specification process Inferred from electronic annotation. Source: Compara positive regulation of Notch signaling pathway Inferred from electronic annotation. Source: Compara positive regulation of cell cycle Inferred from electronic annotation. Source: Compara positive regulation of neural precursor cell proliferation Inferred from electronic annotation. Source: Compara positive regulation of neurogenesis Inferred from electronic annotation. Source: Compara positive regulation of neuron apoptotic process Inferred from electronic annotation. Source: Compara 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 timing of subpallium neuron differentiation Inferred from electronic annotation. Source: Compara response to epidermal growth factor stimulus Inferred from electronic annotation. Source: Compara response to folic acid Inferred from electronic annotation. Source: Compara response to lithium ion Inferred from electronic annotation. Source: Compara response to retinoic acid Inferred from expression pattern PubMed 12000752. Source: UniProtKB spinal cord association neuron differentiation Inferred from electronic annotation. Source: Compara spinal cord oligodendrocyte cell fate specification Inferred from electronic annotation. Source: Compara stomach neuroendocrine cell differentiation Inferred from electronic annotation. Source: Compara subpallium neuron fate commitment Inferred from electronic annotation. Source: Compara sympathetic nervous system development Non-traceable author statement PubMed 10903890. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW vestibular nucleus development Inferred from electronic annotation. Source: Compara
Cellular_component	neuronal cell body Inferred from electronic annotation. Source: Compara nucleus Inferred from direct assay PubMed 12858003PubMed 17507989PubMed 18311112. Source: UniProtKB
Molecular_function	E-box binding Inferred from direct assay PubMed 10903890PubMed 11736660. Source: UniProtKB double-stranded DNA binding Inferred from electronic annotation. Source: Compara sequence-specific DNA binding Inferred from electronic annotation. Source: Compara 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

With	Entry	#Exp.	IntAct	Notes
TCF3	P15923	3	EBI-957042,EBI-769630
TCF4	P15884	7	EBI-957042,EBI-533224

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 236	236	Achaete-scute homolog 1		PRO_0000127126
Regions
	Domain	118 – 170	53	bHLH
	Compositional bias	33 – 47	15	Poly-Ala
	Compositional bias	51 – 62	12	Poly-Gln
Natural variations
	Natural variant	158	1	E → G. Corresponds to variant rs1803157 [ dbSNP | Ensembl ].		VAR_013179
Experimental info
	Sequence conflict	62	1	Q → QQQ Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P50553 [UniParc]. Last modified May 2, 2002. Version 2. Checksum: A7D784329305B49A	FASTA	236	25,454
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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.
IPI	IPI00032964.
PIR	A48279.
RefSeq	NP_004307.2. NM_004316.3.
UniGene	Hs.703025.
3D structure databases
ProteinModelPortal	P50553.
ModBase	Search...
Protein-protein interaction databases
IntAct	P50553. 2 interactions.
STRING	9606.ENSP00000266744.
PTM databases
PhosphoSite	P50553.
Polymorphism databases
DMDM	20455478.
Proteomic databases
PaxDb	P50553.
PRIDE	P50553.
Protocols and materials databases
DNASU	429.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000266744; ENSP00000266744; ENSG00000139352.
GeneID	429.
KEGG	hsa:429.
UCSC	uc001tjr.4. human.
Organism-specific databases
CTD	429.
GeneCards	GC12P103352.
HGNC	HGNC:738. ASCL1.
HPA	HPA029217.
MIM	100790. gene.
neXtProt	NX_P50553.
Orphanet	99803. Haddad syndrome. 661. Ondine syndrome.
PharmGKB	PA26416.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG243363.
HOGENOM	HOG000013056.
HOVERGEN	HBG050590.
InParanoid	P50553.
KO	K09067.
OMA	RCKRRLN.
OrthoDB	EOG42BX9T.
PhylomeDB	P50553.
Gene expression databases
Bgee	P50553.
CleanEx	HS_ASCL1.
Genevestigator	P50553.
GermOnline	ENSG00000139352. Homo sapiens.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR015660. ASH. IPR011598. bHLH_dom. [Graphical view]
PANTHER	PTHR13935. PTHR13935. 1 hit.
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	429.
NextBio	1793.
SOURCE	Search...

Entry information

Entry name

ASCL1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 126 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.