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P50553

- ASCL1_HUMAN

UniProt

P50553 - ASCL1_HUMAN

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Protein

Achaete-scute homolog 1

Gene

ASCL1

Organism
Homo sapiens (Human)
Status
Reviewed - 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. sequence-specific DNA binding Source: Ensembl
  7. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  8. 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. neuroblast fate determination Source: Ensembl
  16. neuroblast proliferation Source: Ensembl
  17. neurogenesis Source: UniProtKB
  18. neuron fate specification Source: Ensembl
  19. neuron migration Source: Ensembl
  20. noradrenergic neuron development Source: UniProtKB
  21. noradrenergic neuron fate commitment Source: UniProtKB
  22. Notch signaling pathway Source: UniProtKB
  23. olfactory pit development Source: Ensembl
  24. oligodendrocyte development Source: Ensembl
  25. positive regulation of cell cycle Source: Ensembl
  26. positive regulation of neural precursor cell proliferation Source: Ensembl
  27. positive regulation of neurogenesis 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. transcription, DNA-templated Source: UniProtKB-KW
  47. ventral spinal cord interneuron fate commitment Source: UniProtKB
  48. 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: 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.
661. Ondine 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.
OMAiRCKRRLN.
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 2, 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:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS31886.1.
PIRi A48279.
RefSeqi NP_004307.2. NM_004316.3.
UniGenei Hs.703025.

3D structure databases

ProteinModelPortali P50553.
SMRi P50553. Positions 122-174.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106921. 5 interactions.
IntActi P50553. 2 interactions.
STRINGi 9606.ENSP00000266744.

PTM databases

PhosphoSitei P50553.

Polymorphism databases

DMDMi 20455478.

Proteomic databases

PaxDbi P50553.
PRIDEi P50553.

Protocols and materials databases

DNASUi 429.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000266744 ; ENSP00000266744 ; ENSG00000139352 .
GeneIDi 429.
KEGGi hsa:429.
UCSCi uc001tjr.4. human.

Organism-specific databases

CTDi 429.
GeneCardsi GC12P103352.
HGNCi HGNC:738. ASCL1.
HPAi HPA029217.
MIMi 100790. gene.
neXtProti NX_P50553.
Orphaneti 99803. Haddad syndrome.
661. Ondine syndrome.
PharmGKBi PA26416.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG243363.
GeneTreei ENSGT00530000063321.
HOGENOMi HOG000013056.
HOVERGENi HBG050590.
InParanoidi P50553.
KOi K09067.
OMAi RCKRRLN.
OrthoDBi EOG7RFTMH.
PhylomeDBi P50553.
TreeFami TF322889.

Enzyme and pathway databases

SignaLinki P50553.

Miscellaneous databases

GeneWikii ASCL1.
GenomeRNAii 429.
NextBioi 1793.
PROi P50553.
SOURCEi Search...

Gene expression databases

Bgeei P50553.
CleanExi HS_ASCL1.
Genevestigatori P50553.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR015660. ASH.
IPR011598. bHLH_dom.
[Graphical view ]
PANTHERi PTHR13935. PTHR13935. 1 hit.
Pfami PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

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(1993) [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(2004) [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(2004) [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: October 1, 1996
Last sequence update: May 2, 2002
Last modified: October 29, 2014
This is version 139 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