Gene: SFN

Basic information

Tag Content
Uniprot ID P31947; Q6FH30; Q6FH51; Q96DH0;
Entrez ID 2810
Genbank protein ID CAA40623.1; AAH23552.1; AAH00329.1; CAG46703.1; AAC52029.1; AAH02995.1; AAH00995.1; AAC52030.1; CAG46724.1; AAH01550.1; AAA59546.1;
Genbank nucleotide ID NM_006142.3
Ensembl protein ID ENSP00000340989
Ensembl nucleotide ID ENSG00000175793
Gene name 14-3-3 protein sigma
Gene symbol SFN
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. When bound to KRT17, regulates protein synthesis and epithelial cell growth by stimulating Akt/mTOR pathway. May also regulate MDM2 autoubiquitination and degradation and thereby activate p53/TP53.
Sequence
MERASLIQKA KLAEQAERYE DMAAFMKGAV EKGEELSCEE RNLLSVAYKN VVGGQRAAWR 60
VLSSIEQKSN EEGSEEKGPE VREYREKVET ELQGVCDTVL GLLDSHLIKE AGDAESRVFY 120
LKMKGDYYRY LAEVATGDDK KRIIDSARSA YQEAMDISKK EMPPTNPIRL GLALNFSVFH 180
YEIANSPEEA ISLAKTTFDE AMADLHTLSE DSYKDSTLIM QLLRDNLTLW TADNAGEEGG 240
EAPQEPQS 248

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologSFN528453Q0VC36Bos taurusPredictionMore>>
1:1 orthologSFN487351F1PQ93Canis lupus familiarisPredictionMore>>
1:1 orthologSFN102190744A0A452DME8Capra hircusPredictionMore>>
1:1 orthologSFN100057082F7CIM1Equus caballusPredictionMore>>
1:1 orthologSFN2810P31947Homo sapiensPredictionMore>>
1:1 orthologSfn55948O70456CPOE14.5Mus musculusPublicationMore>>
1:1 orthologSFN737412H2RC87Pan troglodytesPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005515 protein bindingIPI
GO:0008426 protein kinase C inhibitor activityTAS
GO:0019901 protein kinase bindingIEA
GO:0019904 protein domain specific bindingIEA
GO:0042802 identical protein bindingIPI
GO:0045296 cadherin bindingHDA
GO:0051219 phosphoprotein bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activityIEA
GO:0001836 release of cytochrome c from mitochondriaIDA
GO:0003334 keratinocyte developmentIEA
GO:0006469 negative regulation of protein kinase activityTAS
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestTAS
GO:0007165 signal transductionTAS
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damageIDA
GO:0010482 regulation of epidermal cell divisionISS
GO:0010839 negative regulation of keratinocyte proliferationIEA
GO:0030307 positive regulation of cell growthIEA
GO:0031424 keratinizationIEA
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic processIDA
GO:0045606 positive regulation of epidermal cell differentiationISS
GO:0046827 positive regulation of protein export from nucleusIEA
GO:0061024 membrane organizationTAS
GO:0061436 establishment of skin barrierISS
GO:0071901 negative regulation of protein serine/threonine kinase activityIEA
GO:1900740 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathwayTAS

GO:Cellular Component

GO ID GO Term Evidence
GO:0005615 extracellular spaceTAS
GO:0005634 nucleusIEA
GO:0005739 mitochondrionIEA
GO:0005829 cytosolIDA
GO:0005829 cytosolTAS
GO:0070062 extracellular exosomeHDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-109581 ApoptosisTAS
R-HSA-109606 Intrinsic Pathway for ApoptosisTAS
R-HSA-111447 Activation of BAD and translocation to mitochondria TAS
R-HSA-114452 Activation of BH3-only proteinsTAS
R-HSA-1445148 Translocation of SLC2A4 (GLUT4) to the plasma membraneIEA
R-HSA-162582 Signal TransductionTAS
R-HSA-1640170 Cell CycleTAS
R-HSA-194315 Signaling by Rho GTPasesTAS
R-HSA-195258 RHO GTPase EffectorsTAS
R-HSA-199991 Membrane TraffickingIEA
R-HSA-212436 Generic Transcription PathwayTAS
R-HSA-3700989 Transcriptional Regulation by TP53TAS
R-HSA-5357801 Programmed Cell DeathTAS
R-HSA-5625740 RHO GTPases activate PKNsTAS
R-HSA-5628897 TP53 Regulates Metabolic GenesTAS
R-HSA-5653656 Vesicle-mediated transportIEA
R-HSA-6791312 TP53 Regulates Transcription of Cell Cycle GenesTAS
R-HSA-6804114 TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle ArrestTAS
R-HSA-69473 G2/M DNA damage checkpointTAS
R-HSA-69481 G2/M CheckpointsTAS
R-HSA-69620 Cell Cycle CheckpointsTAS
R-HSA-73857 RNA Polymerase II TranscriptionTAS
R-HSA-74160 Gene expression (Transcription)TAS
R-HSA-75035 Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complexTAS
R-HSA-9614085 FOXO-mediated transcriptionTAS
R-HSA-9614399 Regulation of localization of FOXO transcription factorsTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0025 Alternative splicing
KW-0963 Cytoplasm
KW-0903 Direct protein sequencing
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0964 Secreted
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR000308 14-3-3
IPR023409 14-3-3_CS
IPR036815 14-3-3_dom_sf
IPR023410 14-3-3_domain
IPR037435 14-3-3_sigma

PROSITE

PROSITE ID PROSITE Term
PS00796 1433_1
PS00797 1433_2

Pfam

Pfam ID Pfam Term
PF00244 14-3-3

Protein-protein interaction

Protein-miRNA interaction