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Protein

Fer3-like protein

Gene

FERD3L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Fer3-like protein
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000146618.3
HGNCiHGNC:16660 FERD3L
MIMi617578 gene
neXtProtiNX_Q96RJ6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000146618
PharmGKBiPA134973730

Polymorphism and mutation databases

BioMutaiFERD3L
DMDMi74752106

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003286821 – 166Fer3-like proteinAdd BLAST166

Proteomic databases

PaxDbiQ96RJ6
PeptideAtlasiQ96RJ6
PRIDEiQ96RJ6
ProteomicsDBi77972

PTM databases

PhosphoSitePlusiQ96RJ6

Expressioni

Gene expression databases

BgeeiENSG00000146618 Expressed in 20 organ(s), highest expression level in substantia nigra
CleanExiHS_FERD3L
GenevisibleiQ96RJ6 HS

Organism-specific databases

HPAiHPA043494

Interactioni

Subunit structurei

Heterodimer with TCF3/E12. Interacts with the bHLH domain of TCF3/E12 (By similarity).By similarity

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi128819, 11 interactors
IntActiQ96RJ6, 4 interactors

Structurei

3D structure databases

ProteinModelPortaliQ96RJ6
SMRiQ96RJ6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini101 – 153bHLHPROSITE-ProRule annotationAdd BLAST53

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi63 – 68Poly-Glu6
Compositional biasi75 – 81Poly-Glu7

Phylogenomic databases

eggNOGiENOG410ISUY Eukaryota
ENOG4111V63 LUCA
GeneTreeiENSGT00730000110958
HOGENOMiHOG000046685
HOVERGENiHBG094853
InParanoidiQ96RJ6
KOiK22400
OMAiYPQSCVD
OrthoDBiEOG091G0YNB
PhylomeDBiQ96RJ6

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

Sequencei

Sequence statusi: Complete.

Q96RJ6-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:166
Mass (Da):19,017
Last modified:December 1, 2001 - v1
Checksum:i206F6EDE1F54C79C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti74G → GE in AAI01136 (PubMed:15489334).Curated1
Sequence conflicti74G → GE in AAI01137 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04243936G → 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
CCDSiCCDS5368.1
RefSeqiNP_690862.1, NM_152898.2
UniGeneiHs.592168

Genome annotation databases

EnsembliENST00000275461; ENSP00000275461; ENSG00000146618
GeneIDi222894
KEGGihsa:222894
UCSCiuc003suo.1 human

Keywords - Coding sequence diversityi

Polymorphism

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
CCDSiCCDS5368.1
RefSeqiNP_690862.1, NM_152898.2
UniGeneiHs.592168

3D structure databases

ProteinModelPortaliQ96RJ6
SMRiQ96RJ6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128819, 11 interactors
IntActiQ96RJ6, 4 interactors

PTM databases

PhosphoSitePlusiQ96RJ6

Polymorphism and mutation databases

BioMutaiFERD3L
DMDMi74752106

Proteomic databases

PaxDbiQ96RJ6
PeptideAtlasiQ96RJ6
PRIDEiQ96RJ6
ProteomicsDBi77972

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000275461; ENSP00000275461; ENSG00000146618
GeneIDi222894
KEGGihsa:222894
UCSCiuc003suo.1 human

Organism-specific databases

CTDi222894
EuPathDBiHostDB:ENSG00000146618.3
GeneCardsiFERD3L
HGNCiHGNC:16660 FERD3L
HPAiHPA043494
MIMi617578 gene
neXtProtiNX_Q96RJ6
OpenTargetsiENSG00000146618
PharmGKBiPA134973730
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ISUY Eukaryota
ENOG4111V63 LUCA
GeneTreeiENSGT00730000110958
HOGENOMiHOG000046685
HOVERGENiHBG094853
InParanoidiQ96RJ6
KOiK22400
OMAiYPQSCVD
OrthoDBiEOG091G0YNB
PhylomeDBiQ96RJ6

Miscellaneous databases

GenomeRNAii222894
PROiPR:Q96RJ6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000146618 Expressed in 20 organ(s), highest expression level in substantia nigra
CleanExiHS_FERD3L
GenevisibleiQ96RJ6 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFER3L_HUMAN
AccessioniPrimary (citable) accession number: Q96RJ6
Secondary accession number(s): Q495K0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: December 1, 2001
Last modified: November 7, 2018
This is version 132 of the entry and version 1 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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