ASCL1

GENERAL INFORMATION

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Gene name

ASCL1

Gene description

Achaete-scute family bHLH transcription factor 1

Protein class

Predicted secreted proteins
Transcription factors

Predicted localization

Secreted

Number of transcripts

1
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (cerebral cortex)
GTEx:Group enriched (cerebellum, cerebral cortex, hippocampus, liver)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in CNS.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 1 antibody.
HPA029217
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (cerebral cortex)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (cerebellum, cerebral cortex, hippocampus, liver)

Organ

Expression



GENE INFORMATION

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Gene name

ASCL1 (HGNC Symbol)

Synonyms

ASH1, bHLHa46, HASH1

Description

Achaete-scute family bHLH transcription factor 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008]

Chromosome

12

Cytoband

q23.2

Chromosome location (bp)

102957686 - 102960516

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000139352 (version 78.38)

Entrez gene

429

UniProt

P50553 (UniProt - Evidence at protein level)

neXtProt

NX_P50553

Antibodypedia

ASCL1 antibodies


PROTEIN BROWSER

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ENST00000266744
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ASCL1-001 ENSP00000266744
ENST00000266744
P50553
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