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UBIAD1 (UbiA prenyltransferase domain containing 1)

Identity

Alias (NCBI)SCCD
TERE1
HGNC (Hugo) UBIAD1
HGNC Alias symbTERE1
HGNC Alias nametransitional epithelia response protein
HGNC Previous nameSCCD
HGNC Previous nameSchnyder crystalline corneal dystrophy
LocusID (NCBI) 29914
Atlas_Id 42520
Location 1p36.22  [Link to chromosome band 1p36]
Location_base_pair Starts at 11273198 and ends at 11288434 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ZDHHC20 (13q12.11) / UBIAD1 (1p36.22)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)UBIAD1   30791
Cards
Entrez_Gene (NCBI)UBIAD1    UbiA prenyltransferase domain containing 1
AliasesSCCD; TERE1
GeneCards (Weizmann)UBIAD1
Ensembl hg19 (Hinxton)ENSG00000120942 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000120942 [Gene_View]  ENSG00000120942 [Sequence]  chr1:11273198-11288434 [Contig_View]  UBIAD1 [Vega]
ICGC DataPortalENSG00000120942
TCGA cBioPortalUBIAD1
AceView (NCBI)UBIAD1
Genatlas (Paris)UBIAD1
SOURCE (Princeton)UBIAD1
Genetics Home Reference (NIH)UBIAD1
Genomic and cartography
GoldenPath hg38 (UCSC)UBIAD1  -     chr1:11273198-11288434 +  1p36.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UBIAD1  -     1p36.22   [Description]    (hg19-Feb_2009)
GoldenPathUBIAD1 - 1p36.22 [CytoView hg19]  UBIAD1 - 1p36.22 [CytoView hg38]
ImmunoBaseENSG00000120942
Genome Data Viewer NCBIUBIAD1 [Mapview hg19]  
OMIM121800   611632   
Gene and transcription
Genbank (Entrez)AA505091 AF117064 AK027433 AK074487 AK074890
RefSeq transcript (Entrez)NM_001330349 NM_001330350 NM_013319
Consensus coding sequences : CCDS (NCBI)UBIAD1
Gene ExpressionUBIAD1 [ NCBI-GEO ]   UBIAD1 [ EBI - ARRAY_EXPRESS ]   UBIAD1 [ SEEK ]   UBIAD1 [ MEM ]
Gene Expression Viewer (FireBrowse)UBIAD1 [ Firebrowse - Broad ]
GenevisibleExpression of UBIAD1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29914
GTEX Portal (Tissue expression)UBIAD1
Human Protein AtlasENSG00000120942-UBIAD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y5Z9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y5Z9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y5Z9
Catalytic activity : Enzyme2.5.1.- [ Enzyme-Expasy ]   2.5.1.-2.5.1.- [ IntEnz-EBI ]   2.5.1.- [ BRENDA ]   2.5.1.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ9Y5Z9
Domains : Interpro (EBI)UbiA_prenyltransferase    UBIAD1   
Domain families : Pfam (Sanger)UbiA (PF01040)   
Domain families : Pfam (NCBI)pfam01040   
Conserved Domain (NCBI)UBIAD1
SuperfamilyQ9Y5Z9
AlphaFold pdb e-kbQ9Y5Z9   
Human Protein Atlas [tissue]ENSG00000120942-UBIAD1 [tissue]
HPRD15487
Protein Interaction databases
DIP (DOE-UCLA)Q9Y5Z9
IntAct (EBI)Q9Y5Z9
BioGRIDUBIAD1
STRING (EMBL)UBIAD1
ZODIACUBIAD1
Ontologies - Pathways
QuickGOQ9Y5Z9
Ontology : AmiGOprenyltransferase activity  prenyltransferase activity  prenyltransferase activity  protein binding  nucleus  cytoplasm  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  ubiquinone biosynthetic process  menaquinone biosynthetic process  menaquinone biosynthetic process  menaquinone biosynthetic process  membrane  antioxidant activity  integral component of Golgi membrane  integral component of Golgi membrane  mitochondrial membrane  ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate  vitamin K biosynthetic process  vitamin K biosynthetic process  vitamin K biosynthetic process  vitamin K metabolic process  cellular oxidant detoxification  
Ontology : EGO-EBIprenyltransferase activity  prenyltransferase activity  prenyltransferase activity  protein binding  nucleus  cytoplasm  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  ubiquinone biosynthetic process  menaquinone biosynthetic process  menaquinone biosynthetic process  menaquinone biosynthetic process  membrane  antioxidant activity  integral component of Golgi membrane  integral component of Golgi membrane  mitochondrial membrane  ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate  vitamin K biosynthetic process  vitamin K biosynthetic process  vitamin K biosynthetic process  vitamin K metabolic process  cellular oxidant detoxification  
NDEx NetworkUBIAD1
Atlas of Cancer Signalling NetworkUBIAD1
Wikipedia pathwaysUBIAD1
Orthology - Evolution
OrthoDB29914
GeneTree (enSembl)ENSG00000120942
Phylogenetic Trees/Animal Genes : TreeFamUBIAD1
Homologs : HomoloGeneUBIAD1
Homology/Alignments : Family Browser (UCSC)UBIAD1
Gene fusions - Rearrangements
Fusion : QuiverUBIAD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUBIAD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBIAD1
dbVarUBIAD1
ClinVarUBIAD1
MonarchUBIAD1
1000_GenomesUBIAD1 
Exome Variant ServerUBIAD1
GNOMAD BrowserENSG00000120942
Varsome BrowserUBIAD1
ACMGUBIAD1 variants
VarityQ9Y5Z9
Genomic Variants (DGV)UBIAD1 [DGVbeta]
DECIPHERUBIAD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUBIAD1 
Mutations
ICGC Data PortalUBIAD1 
TCGA Data PortalUBIAD1 
Broad Tumor PortalUBIAD1
OASIS PortalUBIAD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUBIAD1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUBIAD1
Mutations and Diseases : HGMDUBIAD1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaUBIAD1
DgiDB (Drug Gene Interaction Database)UBIAD1
DoCM (Curated mutations)UBIAD1
CIViC (Clinical Interpretations of Variants in Cancer)UBIAD1
Cancer3DUBIAD1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM121800    611632   
Orphanet13984   
DisGeNETUBIAD1
MedgenUBIAD1
Genetic Testing Registry UBIAD1
NextProtQ9Y5Z9 [Medical]
GENETestsUBIAD1
Target ValidationUBIAD1
Huge Navigator UBIAD1 [HugePedia]
ClinGenUBIAD1
Clinical trials, drugs, therapy
MyCancerGenomeUBIAD1
Protein Interactions : CTDUBIAD1
Pharm GKB GenePA142670660
PharosQ9Y5Z9
Clinical trialUBIAD1
Miscellaneous
canSAR (ICR)UBIAD1
HarmonizomeUBIAD1
DataMed IndexUBIAD1
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXUBIAD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:37:12 CEST 2021

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