Reviewed, UniProtKB/Swiss-Prot P50553 (ASCL1_HUMAN)

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) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	236 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (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 structure	Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3.
Subcellular location	Nucleus Probable.
Sequence similarities	Contains 1 basic helix-loop-helix (bHLH) 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
Gene Ontology (GO)
Biological process	Notch signaling pathway Inferred from direct assay. Source: UniProtKB cellular transcription Inferred from electronic annotation. Source: UniProtKB-KW cerebral cortex GABAergic interneuron differentiation Inferred from expression pattern. Source: UniProtKB lung epithelial cell differentiation Non-traceable author statement. Source: UniProtKB negative regulation of apoptosis Inferred from mutant phenotype. Source: UniProtKB negative regulation of gene-specific transcription Inferred from direct assay. Source: UniProtKB negative regulation of neuron differentiation Inferred from direct assay. Source: UniProtKB noradrenergic neuron fate commitment Inferred from mutant phenotype. Source: UniProtKB positive regulation of transcription from RNA polymerase II promoter Inferred from direct assay. Source: UniProtKB response to retinoic acid Inferred from expression pattern. Source: UniProtKB sympathetic nervous system development Non-traceable author statement. Source: UniProtKB
Cellular component	nucleus Inferred from direct assay. Source: UniProtKB
Molecular function	E-box binding Inferred from direct assay. Source: UniProtKB bHLH transcription factor binding Inferred from physical interaction. Source: UniProtKB transcription factor activity Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
TCF3	P15923	1	EBI-957042,EBI-769630
TCF4	P15884	4	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	132 – 171	40	Helix-loop-helix motif
	DNA binding	121 – 131	11	Basic motif
	Compositional bias	33 – 47	15	Poly-Ala
	Compositional bias	51 – 62	12	Poly-Gln
Natural variations
	Natural variant	158	1	E → G: dbSNP rs1803157.		VAR_013179
Experimental info
	Sequence conflict	62	1	Q → QQQ Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P50553-1 [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: 8390674] [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: 14702039] [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: 15489334] [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.
UniGene	Hs.704281
3D structure databases
SMR	P50553. Positions 123-176.
ModBase	Search...
Protein-protein interaction databases
IntAct	P50553. 3 interactions.
STRING	P50553.
PTM databases
PhosphoSite	P50553.
Genome annotation databases
Ensembl	ENST00000266744; ENSP00000266744; ENSG00000139352; Homo sapiens. [Genome view]
GeneID	429.
KEGG	hsa:429.
UCSC	uc001tjr.2. human.
Organism-specific databases
CTD	429.
GeneCards	GC12P101856.
H-InvDB	HIX0010931.
HGNC	HGNC:738. ASCL1.
MIM	100790. gene.
Orphanet	661. Ondine syndrome.
PharmGKB	PA25038.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG13275.
HOGENOM	HBG283332.
HOVERGEN	HBG050590.
InParanoid	P50553.
OMA	REHVPNG.
OrthoDB	EOG95QKZQ.
PhylomeDB	P50553.
Gene expression databases
ArrayExpress	P50553.
Bgee	P50553.
CleanEx	HS_ASCL1.
Genevestigator	P50553.
GermOnline	ENSG00000139352. Homo sapiens.
Family and domain databases
InterPro	IPR015660. ASH. IPR001092. HLH_DNA-bd_dom. IPR011598. HLH_DNA_bd. [Graphical view]
Gene3D	G3DSA:4.10.280.10. HLH_DNA_bd. 1 hit.
PANTHER	PTHR13935. ASH. 1 hit.
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. HLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
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:	March 2, 2010
This is version 92 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.