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UniProtKB - Q6XD76 (ASCL4_HUMAN)
Protein
Achaete-scute homolog 4
Gene
ASCL4
Organism
Homo sapiens (Human)
Status
Functioni
Could be a transcriptional regulator involved in skin development.
1 PublicationGO - Molecular functioni
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- protein dimerization activity Source: InterPro
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: GO_Central
GO - Biological processi
- regulation of transcription by RNA polymerase II Source: GO_Central
- skin development Source: UniProtKB
Keywordsi
Molecular function | DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q6XD76 |
SignaLinki | Q6XD76 |
Names & Taxonomyi
Protein namesi | Recommended name: Achaete-scute homolog 4Short name: ASH-4 Short name: hASH4 Alternative name(s): Achaete-scute-like protein 4 Class A basic helix-loop-helix protein 44 Short name: bHLHa44 |
Gene namesi | Name:ASCL4 Synonyms:BHLHA44, HASH4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24311, ASCL4 |
MIMi | 609155, gene |
neXtProti | NX_Q6XD76 |
VEuPathDBi | HostDB:ENSG00000187855 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
Nucleus
- RNA polymerase II transcription regulator complex Source: GO_Central
Other locations
- chromatin Source: NTNU_SB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
OpenTargetsi | ENSG00000187855 |
PharmGKBi | PA134869300 |
Miscellaneous databases
Pharosi | Q6XD76, Tdark |
Genetic variation databases
BioMutai | ASCL4 |
DMDMi | 74749505 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000317297 | 1 – 172 | Achaete-scute homolog 4Add BLAST | 172 |
Proteomic databases
PaxDbi | Q6XD76 |
PeptideAtlasi | Q6XD76 |
PRIDEi | Q6XD76 |
ProteomicsDBi | 67795 |
Expressioni
Tissue specificityi
Expressed in skin. 7-fold higher expression in fetal skin than in adult skin. Weak expression also detected in fetal lung, aorta and brain, and in adult stomach, kidney, ovary and breast.1 Publication
Gene expression databases
Bgeei | ENSG00000187855, Expressed in tonsil and 12 other tissues |
Organism-specific databases
HPAi | ENSG00000187855, Not detected |
Interactioni
Binary interactionsi
Q6XD76
GO - Molecular functioni
- protein dimerization activity Source: InterPro
Protein-protein interaction databases
BioGRIDi | 125737, 17 interactors |
IntActi | Q6XD76, 47 interactors |
MINTi | Q6XD76 |
STRINGi | 9606.ENSP00000345420 |
Miscellaneous databases
RNActi | Q6XD76, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 72 – 124 | bHLHPROSITE-ProRule annotationAdd BLAST | 53 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 144 – 172 | DisorderedSequence analysisAdd BLAST | 29 |
Phylogenomic databases
eggNOGi | KOG4029, Eukaryota |
GeneTreei | ENSGT00940000162902 |
HOGENOMi | CLU_095919_1_0_1 |
InParanoidi | Q6XD76 |
OMAi | RLDAACW |
OrthoDBi | 1545499at2759 |
PhylomeDBi | Q6XD76 |
TreeFami | TF322889 |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf IPR015660, MASH1/Ascl1a-like |
PANTHERi | PTHR13935, PTHR13935, 1 hit |
Pfami | View protein in Pfam PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
i Sequence
Sequence statusi: Complete.
Q6XD76-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
METRKPAERL ALPYSLRTAP LGVPGTLPGL PRRDPLRVAL RLDAACWEWA
60 70 80 90 100
RSGCARGWQY LPVPLDSAFE PAFLRKRNER ERQRVRCVNE GYARLRDHLP
110 120 130 140 150
RELADKRLSK VETLRAAIDY IKHLQELLER QAWGLEGAAG AVPQRRAECN
160 170
SDGESKASSA PSPSSEPEEG GS
Sequence cautioni
The sequence DAA01055 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY238895 mRNA Translation: AAP69222.1 AC007622 Genomic DNA No translation available. BC128211 mRNA Translation: AAI28212.1 BC128212 mRNA Translation: AAI28213.1 BK000275 mRNA Translation: DAA01055.1 Different initiation. |
CCDSi | CCDS31894.2 |
RefSeqi | NP_982260.2, NM_203436.2 |
Genome annotation databases
Ensembli | ENST00000342331.5; ENSP00000345420.5; ENSG00000187855.6 |
GeneIDi | 121549 |
KEGGi | hsa:121549 |
MANE-Selecti | ENST00000342331.5; ENSP00000345420.5; NM_203436.3; NP_982260.3 |
UCSCi | uc001tmr.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY238895 mRNA Translation: AAP69222.1 AC007622 Genomic DNA No translation available. BC128211 mRNA Translation: AAI28212.1 BC128212 mRNA Translation: AAI28213.1 BK000275 mRNA Translation: DAA01055.1 Different initiation. |
CCDSi | CCDS31894.2 |
RefSeqi | NP_982260.2, NM_203436.2 |
3D structure databases
AlphaFoldDBi | Q6XD76 |
SMRi | Q6XD76 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 125737, 17 interactors |
IntActi | Q6XD76, 47 interactors |
MINTi | Q6XD76 |
STRINGi | 9606.ENSP00000345420 |
Genetic variation databases
BioMutai | ASCL4 |
DMDMi | 74749505 |
Proteomic databases
PaxDbi | Q6XD76 |
PeptideAtlasi | Q6XD76 |
PRIDEi | Q6XD76 |
ProteomicsDBi | 67795 |
Protocols and materials databases
Antibodypediai | 30729, 34 antibodies from 17 providers |
DNASUi | 121549 |
Genome annotation databases
Ensembli | ENST00000342331.5; ENSP00000345420.5; ENSG00000187855.6 |
GeneIDi | 121549 |
KEGGi | hsa:121549 |
MANE-Selecti | ENST00000342331.5; ENSP00000345420.5; NM_203436.3; NP_982260.3 |
UCSCi | uc001tmr.3, human |
Organism-specific databases
CTDi | 121549 |
GeneCardsi | ASCL4 |
HGNCi | HGNC:24311, ASCL4 |
HPAi | ENSG00000187855, Not detected |
MIMi | 609155, gene |
neXtProti | NX_Q6XD76 |
OpenTargetsi | ENSG00000187855 |
PharmGKBi | PA134869300 |
VEuPathDBi | HostDB:ENSG00000187855 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4029, Eukaryota |
GeneTreei | ENSGT00940000162902 |
HOGENOMi | CLU_095919_1_0_1 |
InParanoidi | Q6XD76 |
OMAi | RLDAACW |
OrthoDBi | 1545499at2759 |
PhylomeDBi | Q6XD76 |
TreeFami | TF322889 |
Enzyme and pathway databases
PathwayCommonsi | Q6XD76 |
SignaLinki | Q6XD76 |
Miscellaneous databases
BioGRID-ORCSi | 121549, 15 hits in 1088 CRISPR screens |
GenomeRNAii | 121549 |
Pharosi | Q6XD76, Tdark |
PROi | PR:Q6XD76 |
RNActi | Q6XD76, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000187855, Expressed in tonsil and 12 other tissues |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf IPR015660, MASH1/Ascl1a-like |
PANTHERi | PTHR13935, PTHR13935, 1 hit |
Pfami | View protein in Pfam PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ASCL4_HUMAN | |
Accessioni | Q6XD76Primary (citable) accession number: Q6XD76 Secondary accession number(s): Q7RTS2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 5, 2008 |
Last sequence update: | July 5, 2004 | |
Last modified: | May 25, 2022 | |
This is version 133 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot