Functions and Diseases

RBP Type Canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions N.A.
Localizations Stress granucle
BulkPerturb-seq

Description

Ensembl ID ENSG00000180921 Gene ID 286077 Accession 24797
Symbol FAM83H Alias AI3;AI3A Full Name family with sequence similarity 83 member H
Status Confidence Length 14302 bases Strand Minus strand
Position 8 : 143723933 - 143738234 RNA binding domain FAM83
Summary The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number
ENSP00000373565 FAM83 PF07894 2.2e-100 1
ENSP00000499217 FAM83 PF07894 2.8e-100 1

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID
FAM83H-201 ENST00000388913 5632 1179aa ENSP00000373565
FAM83H-203 ENST00000650760 6131 1380aa ENSP00000499217
FAM83H-202 ENST00000395103 3611 906aa ENSP00000378535

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
27792Blood Glucose6.7900000E-005-

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005737located_in cytoplasm1IEAHomo_sapiens(9606)Component
GO:0007165involved_in signal transduction1IBAHomo_sapiens(9606)Process
GO:0019901enables protein kinase binding2IBA,IPIHomo_sapiens(9606)Function
GO:0030335involved_in positive regulation of cell migration2IBA,IMPHomo_sapiens(9606)Process
GO:0031214involved_in biomineral tissue development1IEAHomo_sapiens(9606)Process
GO:0044380involved_in protein localization to cytoskeleton2IBA,IMPHomo_sapiens(9606)Process
GO:0045095colocalizes_with keratin filament2IBA,IDAHomo_sapiens(9606)Component
GO:0045104involved_in intermediate filament cytoskeleton organization2IBA,IMPHomo_sapiens(9606)Process
GO:1990254enables keratin filament binding2IBA,IDAHomo_sapiens(9606)Function

Expression