Q9NQ33 (ASCL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Achaete-scute homolog 3
Short name=ASH-3
Short name=hASH3

Alternative name(s):
Class A basic helix-loop-helix protein 42
Short name=bHLHa42
bHLH transcriptional regulator Sgn-1

Gene names

Name:	ASCL3
Synonyms:	BHLHA42, HASH3, SGN1

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	180 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Transcriptional repressor. Inhibits myogenesis By similarity.
Subunit structure	Efficient DNA binding requires dimerization with another bHLH protein By similarity.
Subcellular location	Nucleus.
Tissue specificity	Widely expressed in fetal and adult tissues. Ref.3
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain.
Sequence caution	The sequence CAB92288.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Ligand	DNA-binding
Molecular function	Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of transcription from RNA polymerase II promoter Inferred from sequence or structural similarity. Source: UniProtKB transcription, DNA-dependent Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	nucleolus Inferred from direct assay. Source: HPA transcription factor complex Inferred from electronic annotation. Source: Compara
Molecular_function	DNA binding Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 180	180	Achaete-scute homolog 3		PRO_0000127133
Regions
	Domain	92 – 144	53	bHLH
Natural variations
	Natural variant	54	1	R → L. Ref.1 Corresponds to variant rs4909951 [ dbSNP | Ensembl ].		VAR_055948

Sequences

	Sequence		Length	Mass (Da)
	Q9NQ33 [UniParc]. Last modified May 2, 2002. Version 2. Checksum: C9B90C885DE94F81	FASTA	180	20,797
	10 20 30 40 50 60 MDNRGNSSLP DKLPIFPDSA RLPLTRSFYL EPMVTFHVHP EAPVSSPYSE ELPRLPFPSD 70 80 90 100 110 120 SLILGNYSEP CPFSFPMPYP NYRGCEYSYG PAFTRKRNER ERQRVKCVNE GYAQLRHHLP 130 140 150 160 170 180 EEYLEKRLSK VETLRAAIKY INYLQSLLYP DKAETKNNPG KVSSMIATTS HHADPMFRIV

References

[1]	"Sgn1, a basic helix-loop-helix transcription factor delineates the salivary gland duct cell lineage in mice." Yoshida S., Ohbo K., Takakura A., Takebayashi H., Okada T., Abe K., Nabeshima Y. Dev. Biol. 240:517-530(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT LEU-54.
[2]	"Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene ST5) and mouse chromosome 7." Amid C., Bahr A., Mujica A., Sampson N., Bikar S.E., Winterpacht A., Zabel B., Hankeln T., Schmidt E.R. Cytogenet. Cell Genet. 93:284-290(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"Hash4, a novel human achaete-scute homologue found in fetal skin." Jonsson M., Bjoerntorp Mark E., Brantsing C., Brandner J.M., Lindahl A., Asp J. Genomics 84:859-866(2004) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB046450 Genomic DNA. Translation: BAB83913.1. AJ400877 Genomic DNA. Translation: CAB92288.1. Different initiation.
IPI	IPI00217786.
RefSeq	NP_065697.1. NM_020646.1.
UniGene	Hs.501852.
3D structure databases
ProteinModelPortal	Q9NQ33.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000318846.
PTM databases
PhosphoSite	Q9NQ33.
Polymorphism databases
DMDM	20454833.
Proteomic databases
PaxDb	Q9NQ33.
PRIDE	Q9NQ33.
Protocols and materials databases
DNASU	56676.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000325884; ENSP00000318846; ENSG00000176009. ENST00000531618; ENSP00000435770; ENSG00000176009.
GeneID	56676.
KEGG	hsa:56676.
UCSC	uc001mhd.1. human.
Organism-specific databases
CTD	56676.
GeneCards	GC11M008915.
HGNC	HGNC:740. ASCL3.
HPA	HPA027032.
MIM	609154. gene.
neXtProt	NX_Q9NQ33.
PharmGKB	PA25040.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG273711.
HOGENOM	HOG000034089.
HOVERGEN	HBG050591.
InParanoid	Q9NQ33.
KO	K09067.
OMA	VNEGYAQ.
OrthoDB	EOG4SJ5G9.
Gene expression databases
Bgee	Q9NQ33.
CleanEx	HS_ASCL3.
Genevestigator	Q9NQ33.
GermOnline	ENSG00000176009. 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	56676.
NextBio	62181.
SOURCE	Search...

Entry information

Entry name

ASCL3_HUMAN

Accession

Primary (citable) accession number: Q9NQ33
Secondary accession number(s): Q8WYQ6

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 2, 2002
Last sequence update:	May 2, 2002
Last modified:	May 1, 2013
This is version 102 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.