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Protein

Fer3-like protein

Gene

FERD3L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000146618-MONOMER.

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

HGNCiHGNC:16660. FERD3L.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi222894.
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.

PTM databases

PhosphoSitePlusiQ96RJ6.

Expressioni

Gene expression databases

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

WithEntry#Exp.IntActNotes
FAM9BQ8IZU03EBI-10183007,EBI-10175124
MAGEB4O154813EBI-10183007,EBI-751857
SGTAO437653EBI-10183007,EBI-347996
TCF4P158843EBI-10183007,EBI-533224

Protein-protein interaction databases

BioGridi128819. 11 interactors.
IntActiQ96RJ6. 4 interactors.
STRINGi9606.ENSP00000275461.

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

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410ISUY. Eukaryota.
ENOG4111V63. LUCA.
GeneTreeiENSGT00730000110958.
HOGENOMiHOG000046685.
HOVERGENiHBG094853.
InParanoidiQ96RJ6.
OMAiRHPLLCD.
OrthoDBiEOG091G0YNB.
PhylomeDBiQ96RJ6.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
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.

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 rs775679607dbSNPEnsembl.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

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.
STRINGi9606.ENSP00000275461.

PTM databases

PhosphoSitePlusiQ96RJ6.

Polymorphism and mutation databases

BioMutaiFERD3L.
DMDMi74752106.

Proteomic databases

PaxDbiQ96RJ6.
PeptideAtlasiQ96RJ6.
PRIDEiQ96RJ6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi222894.
DisGeNETi222894.
GeneCardsiFERD3L.
HGNCiHGNC:16660. FERD3L.
HPAiHPA043494.
neXtProtiNX_Q96RJ6.
OpenTargetsiENSG00000146618.
PharmGKBiPA134973730.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ISUY. Eukaryota.
ENOG4111V63. LUCA.
GeneTreeiENSGT00730000110958.
HOGENOMiHOG000046685.
HOVERGENiHBG094853.
InParanoidiQ96RJ6.
OMAiRHPLLCD.
OrthoDBiEOG091G0YNB.
PhylomeDBiQ96RJ6.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000146618-MONOMER.

Miscellaneous databases

GenomeRNAii222894.
PROiQ96RJ6.

Gene expression databases

CleanExiHS_FERD3L.
GenevisibleiQ96RJ6. HS.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFER3L_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 117 of the entry and version 1 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 7
    Human chromosome 7: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.