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UBIAD1 (UbiA prenyltransferase domain containing 1)

Identity

Alias_namesSCCD
Schnyder crystalline corneal dystrophy
Alias_symbol (synonym)TERE1
Other alias
HGNC (Hugo) UBIAD1
LocusID (NCBI) 29914
Atlas_Id 42520
Location 1p36.22  [Link to chromosome band 1p36]
Location_base_pair Starts at 11273198 and ends at 11299571 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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  29914  UbiA prenyltransferase domain containing 1
AliasesSCCD; TERE1
GeneCards (Weizmann)UBIAD1
Ensembl hg19 (Hinxton)ENSG00000120942 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000120942 [Gene_View]  chr1:11273198-11299571 [Contig_View]  UBIAD1 [Vega]
ICGC DataPortalENSG00000120942
TCGA cBioPortalUBIAD1
AceView (NCBI)UBIAD1
Genatlas (Paris)UBIAD1
WikiGenes29914
SOURCE (Princeton)UBIAD1
Genetics Home Reference (NIH)UBIAD1
Genomic and cartography
GoldenPath hg38 (UCSC)UBIAD1  -     chr1:11273198-11299571 +  1p36.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UBIAD1  -     1p36.22   [Description]    (hg19-Feb_2009)
EnsemblUBIAD1 - 1p36.22 [CytoView hg19]  UBIAD1 - 1p36.22 [CytoView hg38]
Mapping of homologs : NCBIUBIAD1 [Mapview hg19]  UBIAD1 [Mapview hg38]
OMIM121800   611632   
Gene and transcription
Genbank (Entrez)AA505091 AF117064 AK027433 AK074487 AK074890
RefSeq transcript (Entrez)NM_001330349 NM_001330350 NM_013319
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UBIAD1
Cluster EST : UnigeneHs.522933 [ NCBI ]
CGAP (NCI)Hs.522933
Alternative Splicing GalleryENSG00000120942
Gene ExpressionUBIAD1 [ NCBI-GEO ]   UBIAD1 [ EBI - ARRAY_EXPRESS ]   UBIAD1 [ SEEK ]   UBIAD1 [ MEM ]
Gene Expression Viewer (FireBrowse)UBIAD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29914
GTEX Portal (Tissue expression)UBIAD1
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
Splice isoforms : SwissVarQ9Y5Z9
Catalytic activity : Enzyme2.5.1.- [ Enzyme-Expasy ]   2.5.1.-2.5.1.- [ IntEnz-EBI ]   2.5.1.- [ BRENDA ]   2.5.1.- [ KEGG ]   
PhosPhoSitePlusQ9Y5Z9
Domains : Interpro (EBI)UbiA_prenyltransferase    UBIAD1   
Domain families : Pfam (Sanger)UbiA (PF01040)   
Domain families : Pfam (NCBI)pfam01040   
Conserved Domain (NCBI)UBIAD1
DMDM Disease mutations29914
Blocks (Seattle)UBIAD1
SuperfamilyQ9Y5Z9
Human Protein AtlasENSG00000120942
Peptide AtlasQ9Y5Z9
HPRD15487
IPIIPI00002468   IPI00640446   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y5Z9
IntAct (EBI)Q9Y5Z9
FunCoupENSG00000120942
BioGRIDUBIAD1
STRING (EMBL)UBIAD1
ZODIACUBIAD1
Ontologies - Pathways
QuickGOQ9Y5Z9
Ontology : AmiGOprenyltransferase activity  prenyltransferase activity  protein binding  nucleus  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  ubiquinone biosynthetic process  menaquinone biosynthetic process  menaquinone biosynthetic process  membrane  antioxidant activity  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 metabolic process  cellular oxidant detoxification  
Ontology : EGO-EBIprenyltransferase activity  prenyltransferase activity  protein binding  nucleus  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  ubiquinone biosynthetic process  menaquinone biosynthetic process  menaquinone biosynthetic process  membrane  antioxidant activity  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 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
HOVERGENQ9Y5Z9
HOGENOMQ9Y5Z9
Homologs : HomoloGeneUBIAD1
Homology/Alignments : Family Browser (UCSC)UBIAD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUBIAD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBIAD1
dbVarUBIAD1
ClinVarUBIAD1
1000_GenomesUBIAD1 
Exome Variant ServerUBIAD1
ExAC (Exome Aggregation Consortium)UBIAD1 (select the gene name)
Genetic variants : HAPMAP29914
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]  
Mutations and Diseases : HGMDUBIAD1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch UBIAD1
DgiDB (Drug Gene Interaction Database)UBIAD1
DoCM (Curated mutations)UBIAD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UBIAD1 (select a term)
intoGenUBIAD1
Cancer3DUBIAD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM121800    611632   
Orphanet13984   
MedgenUBIAD1
Genetic Testing Registry UBIAD1
NextProtQ9Y5Z9 [Medical]
TSGene29914
GENETestsUBIAD1
Target ValidationUBIAD1
Huge Navigator UBIAD1 [HugePedia]
snp3D : Map Gene to Disease29914
BioCentury BCIQUBIAD1
ClinGenUBIAD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29914
Chemical/Pharm GKB GenePA142670660
Clinical trialUBIAD1
Miscellaneous
canSAR (ICR)UBIAD1 (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUBIAD1
EVEXUBIAD1
GoPubMedUBIAD1
iHOPUBIAD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:37:11 CEST 2017

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