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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 controls transcriptional expression of its target genes by binding to the E box (5'-CANNTG-3'). 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. 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. Essential for the generation of olfactory and autonomic neurons (By similarity).By similarity

GO - Molecular functioni

  1. bHLH transcription factor binding Source: UniProtKB
  2. chromatin binding Source: Ensembl
  3. DNA binding Source: UniProtKB
  4. double-stranded DNA binding Source: Ensembl
  5. E-box binding Source: UniProtKB
  6. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
  7. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: NTNU_SB
  8. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  9. transcription factor binding transcription factor activity Source: UniProtKB

GO - Biological processi

  1. adrenal chromaffin cell differentiation Source: Ensembl
  2. carotid body glomus cell differentiation Source: Ensembl
  3. cell maturation Source: Ensembl
  4. cellular response to magnetism Source: Ensembl
  5. central nervous system neuron development Source: Ensembl
  6. cerebral cortex development Source: Ensembl
  7. cerebral cortex GABAergic interneuron differentiation Source: UniProtKB
  8. commitment of neuronal cell to specific neuron type in forebrain Source: Ensembl
  9. lung epithelial cell differentiation Source: UniProtKB
  10. lung neuroendocrine cell differentiation Source: Ensembl
  11. musculoskeletal movement, spinal reflex action Source: Ensembl
  12. negative regulation of apoptotic process Source: UniProtKB
  13. negative regulation of neuron differentiation Source: UniProtKB
  14. negative regulation of transcription, DNA-templated Source: UniProtKB
  15. negative regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
  16. neuroblast fate determination Source: Ensembl
  17. neuroblast proliferation Source: Ensembl
  18. neurogenesis Source: UniProtKB
  19. neuron fate specification Source: Ensembl
  20. neuron migration Source: Ensembl
  21. noradrenergic neuron development Source: UniProtKB
  22. noradrenergic neuron fate commitment Source: UniProtKB
  23. Notch signaling pathway Source: UniProtKB
  24. olfactory pit development Source: Ensembl
  25. oligodendrocyte development Source: Ensembl
  26. positive regulation of cell cycle Source: Ensembl
  27. positive regulation of neural precursor cell proliferation Source: Ensembl
  28. positive regulation of neuron apoptotic process Source: Ensembl
  29. positive regulation of neuron differentiation Source: UniProtKB
  30. positive regulation of Notch signaling pathway Source: Ensembl
  31. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  32. regulation of epithelial cell differentiation Source: Ensembl
  33. regulation of gene expression Source: UniProtKB
  34. regulation of mitotic cell cycle Source: Ensembl
  35. regulation of timing of subpallium neuron differentiation Source: Ensembl
  36. response to epidermal growth factor Source: Ensembl
  37. response to folic acid Source: Ensembl
  38. response to lithium ion Source: Ensembl
  39. response to retinoic acid Source: UniProtKB
  40. spinal cord association neuron differentiation Source: Ensembl
  41. spinal cord oligodendrocyte cell fate specification Source: Ensembl
  42. stomach neuroendocrine cell differentiation Source: Ensembl
  43. subpallium neuron fate commitment Source: Ensembl
  44. sympathetic ganglion development Source: UniProtKB
  45. sympathetic nervous system development Source: UniProtKB
  46. ventral spinal cord interneuron fate commitment Source: UniProtKB
  47. vestibular nucleus development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiP50553.

Names & Taxonomyi

Protein namesi
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 namesi
Name:ASCL1
Synonyms:ASH1, BHLHA46, HASH1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:738. ASCL1.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. neuronal cell body Source: Ensembl
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

Orphaneti99803. Haddad syndrome.
PharmGKBiPA26416.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 236236Achaete-scute homolog 1PRO_0000127126Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei156 – 1561N6-acetyllysineBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiP50553.
PRIDEiP50553.

PTM databases

PhosphoSiteiP50553.

Expressioni

Gene expression databases

BgeeiP50553.
CleanExiHS_ASCL1.
GenevestigatoriP50553.

Organism-specific databases

HPAiHPA029217.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
TCF3P159233EBI-957042,EBI-769630
TCF4P158847EBI-957042,EBI-533224

Protein-protein interaction databases

BioGridi106921. 5 interactions.
IntActiP50553. 2 interactions.
STRINGi9606.ENSP00000266744.

Structurei

3D structure databases

ProteinModelPortaliP50553.
SMRiP50553. Positions 122-174.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini118 – 17053bHLHPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi33 – 4715Poly-AlaAdd
BLAST
Compositional biasi51 – 6212Poly-GlnAdd
BLAST

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG243363.
GeneTreeiENSGT00530000063321.
HOGENOMiHOG000013056.
HOVERGENiHBG050590.
InParanoidiP50553.
KOiK09067.
OMAiPTISPNY.
OrthoDBiEOG7RFTMH.
PhylomeDBiP50553.
TreeFamiTF322889.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR015660. ASH.
IPR011598. bHLH_dom.
[Graphical view]
PANTHERiPTHR13935. PTHR13935. 1 hit.
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

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 1, 2002 - v2
Checksum:iA7D784329305B49A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti62 – 621Q → QQQ in AAA58376 (PubMed:8390674).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti158 – 1581E → G.
Corresponds to variant rs1803157 [ dbSNP | Ensembl ].
VAR_013179

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.4. human.

Polymorphism databases

DMDMi20455478.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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.

3D structure databases

ProteinModelPortaliP50553.
SMRiP50553. Positions 122-174.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106921. 5 interactions.
IntActiP50553. 2 interactions.
STRINGi9606.ENSP00000266744.

PTM databases

PhosphoSiteiP50553.

Polymorphism databases

DMDMi20455478.

Proteomic databases

PaxDbiP50553.
PRIDEiP50553.

Protocols and materials databases

DNASUi429.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000266744; ENSP00000266744; ENSG00000139352.
GeneIDi429.
KEGGihsa:429.
UCSCiuc001tjr.4. human.

Organism-specific databases

CTDi429.
GeneCardsiGC12P103352.
HGNCiHGNC:738. ASCL1.
HPAiHPA029217.
MIMi100790. gene.
neXtProtiNX_P50553.
Orphaneti99803. Haddad syndrome.
PharmGKBiPA26416.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG243363.
GeneTreeiENSGT00530000063321.
HOGENOMiHOG000013056.
HOVERGENiHBG050590.
InParanoidiP50553.
KOiK09067.
OMAiPTISPNY.
OrthoDBiEOG7RFTMH.
PhylomeDBiP50553.
TreeFamiTF322889.

Enzyme and pathway databases

SignaLinkiP50553.

Miscellaneous databases

GeneWikiiASCL1.
GenomeRNAii429.
NextBioi1793.
PROiP50553.
SOURCEiSearch...

Gene expression databases

BgeeiP50553.
CleanExiHS_ASCL1.
GenevestigatoriP50553.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR015660. ASH.
IPR011598. bHLH_dom.
[Graphical view]
PANTHERiPTHR13935. PTHR13935. 1 hit.
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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(1992) [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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  3. 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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lung.

Entry informationi

Entry nameiASCL1_HUMAN
AccessioniPrimary (citable) accession number: P50553
Secondary accession number(s): A8K3C4, Q9BQ30
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 30, 1996
Last sequence update: May 1, 2002
Last modified: March 3, 2015
This is version 142 of the entry and version 2 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.