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Protein

Achaete-scute homolog 1

Gene

ASCL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcription factor that plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways. Directly binds the E box motif (5'-CANNTG-3') on promoters and promotes transcription of neuronal genes. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Plays 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. Acts synergistically with FOXN4 to specify the identity of V2b neurons rather than V2a from bipotential p2 progenitors during spinal cord neurogenesis, probably through DLL4-NOTCH signaling activation.By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

SignaLinkiP50553.
SIGNORiP50553.

Names & Taxonomyi

Protein namesi
Recommended name:
Achaete-scute homolog 11 Publication
Short name:
ASH-11 Publication
Short name:
hASH11 Publication
Alternative name(s):
Class A basic helix-loop-helix protein 46Imported
Short name:
bHLHa46Imported
Gene namesi
Name:ASCL1Imported
Synonyms:ASH1, BHLHA46Imported, HASH11 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000139352.3.
HGNCiHGNC:738. ASCL1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi429.
MalaCardsiASCL1.
OpenTargetsiENSG00000139352.
Orphaneti99803. Haddad syndrome.
PharmGKBiPA26416.

Polymorphism and mutation databases

BioMutaiASCL1.
DMDMi20455478.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001271261 – 236Achaete-scute homolog 1Add BLAST236

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei156N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiP50553.
PeptideAtlasiP50553.
PRIDEiP50553.

PTM databases

iPTMnetiP50553.
PhosphoSitePlusiP50553.

Expressioni

Gene expression databases

BgeeiENSG00000139352.
CleanExiHS_ASCL1.
GenevisibleiP50553. HS.

Organism-specific databases

HPAiHPA029217.

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • bHLH transcription factor binding Source: UniProtKB
  • protein homodimerization activity Source: Ensembl

Protein-protein interaction databases

BioGridi106921. 5 interactors.
IntActiP50553. 6 interactors.
STRINGi9606.ENSP00000266744.

Structurei

3D structure databases

ProteinModelPortaliP50553.
SMRiP50553.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini118 – 170bHLHPROSITE-ProRule annotationAdd BLAST53

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi33 – 47Poly-AlaAdd BLAST15
Compositional biasi51 – 62Poly-GlnAdd BLAST12

Phylogenomic databases

eggNOGiKOG4029. Eukaryota.
ENOG411227D. LUCA.
GeneTreeiENSGT00530000063321.
HOGENOMiHOG000013056.
HOVERGENiHBG050590.
InParanoidiP50553.
KOiK09067.
OMAiELMRCKR.
OrthoDBiEOG091G0OB6.
PhylomeDBiP50553.
TreeFamiTF322889.

Family and domain databases

CDDicd00083. HLH. 1 hit.
Gene3Di4.10.280.10. 1 hit.
InterProiView protein in InterPro
IPR011598. bHLH_dom.
IPR015660. MASH1/Ascl1a-like.
PANTHERiPTHR13935. PTHR13935. 1 hit.
PfamiView protein in Pfam
PF00010. HLH. 1 hit.
SMARTiView protein in SMART
SM00353. HLH. 1 hit.
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiView protein in PROSITE
PS50888. BHLH. 1 hit.

Sequencei

Sequence statusi: Complete.

P50553-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MESSAKMESG GAGQQPQPQP QQPFLPPAAC FFATAAAAAA AAAAAAAQSA
60 70 80 90 100
QQQQQQQQQQ QQAPQLRPAA DGQPSGGGHK SAPKQVKRQR SSSPELMRCK
110 120 130 140 150
RRLNFSGFGY SLPQQQPAAV ARRNERERNR VKLVNLGFAT LREHVPNGAA
160 170 180 190 200
NKKMSKVETL RSAVEYIRAL QQLLDEHDAV SAAFQAGVLS PTISPNYSND
210 220 230
LNSMAGSPVS SYSSDEGSYD PLSPEEQELL DFTNWF
Length:236
Mass (Da):25,454
Last modified:May 2, 2002 - v2
Checksum:iA7D784329305B49A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti62Q → QQQ in AAA58376 (PubMed:8390674).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013179158E → G. Corresponds to variant dbSNP:rs1803157Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS31886.1.
PIRiA48279.
RefSeqiNP_004307.2. NM_004316.3.
UniGeneiHs.703025.

Genome annotation databases

EnsembliENST00000266744; ENSP00000266744; ENSG00000139352.
GeneIDi429.
KEGGihsa:429.
UCSCiuc001tjr.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiASCL1_HUMAN
AccessioniPrimary (citable) accession number: P50553
Secondary accession number(s): A8K3C4, Q9BQ30
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 2, 2002
Last modified: September 27, 2017
This is version 164 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot