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Protein

Achaete-scute homolog 1

Gene

ASCL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
MIMi100790 gene
neXtProtiNX_P50553

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
ProteomicsDBi56249

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, 6 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
IPR036638 HLH_DNA-bd_sf
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: July 18, 2018
This is version 171 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

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