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UniProtKB - Q96RJ6 (FER3L_HUMAN)
Protein
Fer3-like protein
Gene
FERD3L
Organism
Homo sapiens (Human)
Status
Functioni
Transcription factor that binds to the E-box and functions as inhibitor of transcription. DNA binding requires dimerization with an E protein. Inhibits transcription activation by ASCL1/MASH1 by sequestering E proteins (By similarity).
By similarityGO - Molecular functioni
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: Ensembl
- protein dimerization activity Source: InterPro
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- cell development Source: Ensembl
- developmental process Source: GO_Central
- floor plate development Source: Ensembl
- negative regulation of transcription, DNA-templated Source: UniProtKB
- regulation of neurogenesis Source: Ensembl
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q96RJ6 |
SignaLinki | Q96RJ6 |
Names & Taxonomyi
Protein namesi | Recommended name: Fer3-like proteinAlternative name(s): Basic helix-loop-helix protein N-twist Class A basic helix-loop-helix protein 31 Short name: bHLHa31 Nephew of atonal 3 Neuronal twist |
Gene namesi | Name:FERD3L Synonyms:BHLHA31, NATO3, NTWIST |
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:16660, FERD3L |
MIMi | 617578, gene |
neXtProti | NX_Q96RJ6 |
VEuPathDBi | HostDB:ENSG00000146618 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 222894 |
OpenTargetsi | ENSG00000146618 |
PharmGKBi | PA134973730 |
Miscellaneous databases
Pharosi | Q96RJ6, Tbio |
Genetic variation databases
BioMutai | FERD3L |
DMDMi | 74752106 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000328682 | 1 – 166 | Fer3-like proteinAdd BLAST | 166 |
Proteomic databases
MassIVEi | Q96RJ6 |
PaxDbi | Q96RJ6 |
PeptideAtlasi | Q96RJ6 |
PRIDEi | Q96RJ6 |
PTM databases
PhosphoSitePlusi | Q96RJ6 |
Expressioni
Gene expression databases
Bgeei | ENSG00000146618, Expressed in sural nerve and 32 other tissues |
Genevisiblei | Q96RJ6, HS |
Organism-specific databases
HPAi | ENSG00000146618, Tissue enriched (brain) |
Interactioni
Subunit structurei
Heterodimer with TCF3/E12.
Interacts with the bHLH domain of TCF3/E12 (By similarity).
By similarityBinary interactionsi
Q96RJ6
With | #Exp. | IntAct |
---|---|---|
FAM9B [Q8IZU0] | 4 | EBI-10183007,EBI-10175124 |
MAGEB4 [O15481] | 3 | EBI-10183007,EBI-751857 |
SGTA [O43765] | 3 | EBI-10183007,EBI-347996 |
TCF4 [P15884] | 4 | EBI-10183007,EBI-533224 |
GO - Molecular functioni
- protein dimerization activity Source: InterPro
Protein-protein interaction databases
BioGRIDi | 128819, 16 interactors |
IntActi | Q96RJ6, 11 interactors |
STRINGi | 9606.ENSP00000275461 |
Miscellaneous databases
RNActi | Q96RJ6, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 101 – 153 | bHLHPROSITE-ProRule annotationAdd BLAST | 53 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 57 – 88 | DisorderedSequence analysisAdd BLAST | 32 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 61 – 80 | Acidic residuesSequence analysisAdd BLAST | 20 |
Phylogenomic databases
eggNOGi | KOG4029, Eukaryota |
GeneTreei | ENSGT00940000161409 |
HOGENOMi | CLU_148882_0_0_1 |
InParanoidi | Q96RJ6 |
OMAi | LDGCSRQ |
OrthoDBi | 1513995at2759 |
PhylomeDBi | Q96RJ6 |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf |
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.
Q96RJ6-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAAYPESCVD TTVLDFVADL SLASPRRPLL CDFAPGVSLG DPALALREGR
60 70 80 90 100
PRRMARFEEG DPEEEECEVD QGDGEEEEEE ERGRGVSLLG RPKRKRVITY
110 120 130 140 150
AQRQAANIRE RKRMFNLNEA FDQLRRKVPT FAYEKRLSRI ETLRLAIVYI
160
SFMTELLESC EKKESG
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 74 | G → GE in AAI01136 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 74 | G → GE in AAI01137 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_042439 | 36 | G → R in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs775679607Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF369897 Genomic DNA Translation: AAK72956.1 AF517122 mRNA Translation: AAN04086.1 CH236948 Genomic DNA Translation: EAL24278.1 CH471073 Genomic DNA Translation: EAW93712.1 BC069147 mRNA Translation: AAH69147.1 BC101135 mRNA Translation: AAI01136.1 BC101136 mRNA Translation: AAI01137.1 BC101137 mRNA Translation: AAI01138.1 BC101138 mRNA Translation: AAI01139.1 |
CCDSi | CCDS5368.1 |
RefSeqi | NP_690862.1, NM_152898.2 |
Genome annotation databases
Ensembli | ENST00000275461.3; ENSP00000275461.3; ENSG00000146618.3 |
GeneIDi | 222894 |
KEGGi | hsa:222894 |
MANE-Selecti | ENST00000275461.3; ENSP00000275461.3; NM_152898.2; NP_690862.1 |
UCSCi | uc003suo.1, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF369897 Genomic DNA Translation: AAK72956.1 AF517122 mRNA Translation: AAN04086.1 CH236948 Genomic DNA Translation: EAL24278.1 CH471073 Genomic DNA Translation: EAW93712.1 BC069147 mRNA Translation: AAH69147.1 BC101135 mRNA Translation: AAI01136.1 BC101136 mRNA Translation: AAI01137.1 BC101137 mRNA Translation: AAI01138.1 BC101138 mRNA Translation: AAI01139.1 |
CCDSi | CCDS5368.1 |
RefSeqi | NP_690862.1, NM_152898.2 |
3D structure databases
AlphaFoldDBi | Q96RJ6 |
SMRi | Q96RJ6 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 128819, 16 interactors |
IntActi | Q96RJ6, 11 interactors |
STRINGi | 9606.ENSP00000275461 |
PTM databases
PhosphoSitePlusi | Q96RJ6 |
Genetic variation databases
BioMutai | FERD3L |
DMDMi | 74752106 |
Proteomic databases
MassIVEi | Q96RJ6 |
PaxDbi | Q96RJ6 |
PeptideAtlasi | Q96RJ6 |
PRIDEi | Q96RJ6 |
Protocols and materials databases
Antibodypediai | 11904, 87 antibodies from 20 providers |
DNASUi | 222894 |
Genome annotation databases
Ensembli | ENST00000275461.3; ENSP00000275461.3; ENSG00000146618.3 |
GeneIDi | 222894 |
KEGGi | hsa:222894 |
MANE-Selecti | ENST00000275461.3; ENSP00000275461.3; NM_152898.2; NP_690862.1 |
UCSCi | uc003suo.1, human |
Organism-specific databases
CTDi | 222894 |
DisGeNETi | 222894 |
GeneCardsi | FERD3L |
HGNCi | HGNC:16660, FERD3L |
HPAi | ENSG00000146618, Tissue enriched (brain) |
MIMi | 617578, gene |
neXtProti | NX_Q96RJ6 |
OpenTargetsi | ENSG00000146618 |
PharmGKBi | PA134973730 |
VEuPathDBi | HostDB:ENSG00000146618 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4029, Eukaryota |
GeneTreei | ENSGT00940000161409 |
HOGENOMi | CLU_148882_0_0_1 |
InParanoidi | Q96RJ6 |
OMAi | LDGCSRQ |
OrthoDBi | 1513995at2759 |
PhylomeDBi | Q96RJ6 |
Enzyme and pathway databases
PathwayCommonsi | Q96RJ6 |
SignaLinki | Q96RJ6 |
Miscellaneous databases
BioGRID-ORCSi | 222894, 10 hits in 1087 CRISPR screens |
GenomeRNAii | 222894 |
Pharosi | Q96RJ6, Tbio |
PROi | PR:Q96RJ6 |
RNActi | Q96RJ6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000146618, Expressed in sural nerve and 32 other tissues |
Genevisiblei | Q96RJ6, HS |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf |
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 | FER3L_HUMAN | |
Accessioni | Q96RJ6Primary (citable) accession number: Q96RJ6 Secondary accession number(s): Q495K0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 8, 2008 |
Last sequence update: | December 1, 2001 | |
Last modified: | May 25, 2022 | |
This is version 152 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 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot