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RHBDD1 (rhomboid domain containing 1)

Identity

Alias_symbol (synonym)DKFZp547E052
Other aliasRHBDL4
RRP4
HGNC (Hugo) RHBDD1
LocusID (NCBI) 84236
Atlas_Id 54884
Location 2q36.3  [Link to chromosome band 2q36]
Location_base_pair Starts at 226835915 and ends at 226999207 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MYO1B (2q32.3) / RHBDD1 (2q36.3)SLC30A6 (2p22.3) / RHBDD1 (2q36.3)SPAG9 (17q21.33) / RHBDD1 (2q36.3)
TXNRD2 (22q11.21) / RHBDD1 (2q36.3)

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)RHBDD1   23081
Cards
Entrez_Gene (NCBI)RHBDD1  84236  rhomboid domain containing 1
AliasesRHBDL4; RRP4
GeneCards (Weizmann)RHBDD1
Ensembl hg19 (Hinxton)ENSG00000144468 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000144468 [Gene_View]  chr2:226835915-226999207 [Contig_View]  RHBDD1 [Vega]
ICGC DataPortalENSG00000144468
TCGA cBioPortalRHBDD1
AceView (NCBI)RHBDD1
Genatlas (Paris)RHBDD1
WikiGenes84236
SOURCE (Princeton)RHBDD1
Genetics Home Reference (NIH)RHBDD1
Genomic and cartography
GoldenPath hg38 (UCSC)RHBDD1  -     chr2:226835915-226999207 +  2q36.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RHBDD1  -     2q36.3   [Description]    (hg19-Feb_2009)
EnsemblRHBDD1 - 2q36.3 [CytoView hg19]  RHBDD1 - 2q36.3 [CytoView hg38]
Mapping of homologs : NCBIRHBDD1 [Mapview hg19]  RHBDD1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK026955 AK074258 AK093986 AK127274 AK128621
RefSeq transcript (Entrez)NM_001167608 NM_001349069 NM_001349071 NM_001349072 NM_032276
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RHBDD1
Cluster EST : UnigeneHs.664759 [ NCBI ]
CGAP (NCI)Hs.664759
Alternative Splicing GalleryENSG00000144468
Gene ExpressionRHBDD1 [ NCBI-GEO ]   RHBDD1 [ EBI - ARRAY_EXPRESS ]   RHBDD1 [ SEEK ]   RHBDD1 [ MEM ]
Gene Expression Viewer (FireBrowse)RHBDD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84236
GTEX Portal (Tissue expression)RHBDD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TEB9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TEB9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TEB9
Splice isoforms : SwissVarQ8TEB9
Catalytic activity : Enzyme3.4.21.105 [ Enzyme-Expasy ]   3.4.21.1053.4.21.105 [ IntEnz-EBI ]   3.4.21.105 [ BRENDA ]   3.4.21.105 [ KEGG ]   
PhosPhoSitePlusQ8TEB9
Domains : Interpro (EBI)Peptidase_S54_rhomboid_dom   
Domain families : Pfam (Sanger)Rhomboid (PF01694)   
Domain families : Pfam (NCBI)pfam01694   
Conserved Domain (NCBI)RHBDD1
DMDM Disease mutations84236
Blocks (Seattle)RHBDD1
PDB (SRS)5EPP   
PDB (PDBSum)5EPP   
PDB (IMB)5EPP   
PDB (RSDB)5EPP   
Structural Biology KnowledgeBase5EPP   
SCOP (Structural Classification of Proteins)5EPP   
CATH (Classification of proteins structures)5EPP   
SuperfamilyQ8TEB9
Human Protein AtlasENSG00000144468
Peptide AtlasQ8TEB9
HPRD13206
IPIIPI00152700   IPI00790369   IPI00917652   IPI00917226   IPI00915745   IPI00916015   IPI00917997   IPI00916329   IPI00916452   
Protein Interaction databases
DIP (DOE-UCLA)Q8TEB9
IntAct (EBI)Q8TEB9
FunCoupENSG00000144468
BioGRIDRHBDD1
STRING (EMBL)RHBDD1
ZODIACRHBDD1
Ontologies - Pathways
QuickGOQ8TEB9
Ontology : AmiGOserine-type endopeptidase activity  mitochondrion  endoplasmic reticulum  endoplasmic reticulum membrane  apoptotic process  positive regulation of protein processing  integral component of endoplasmic reticulum membrane  membrane protein intracellular domain proteolysis  cellular response to unfolded protein  cellular response to unfolded protein  cellular response to UV  ERAD pathway  negative regulation of apoptotic process  post-translational protein modification  endoplasmic reticulum quality control compartment  spermatid differentiation  membrane protein proteolysis involved in retrograde protein transport, ER to cytosol  regulation of male germ cell proliferation  
Ontology : EGO-EBIserine-type endopeptidase activity  mitochondrion  endoplasmic reticulum  endoplasmic reticulum membrane  apoptotic process  positive regulation of protein processing  integral component of endoplasmic reticulum membrane  membrane protein intracellular domain proteolysis  cellular response to unfolded protein  cellular response to unfolded protein  cellular response to UV  ERAD pathway  negative regulation of apoptotic process  post-translational protein modification  endoplasmic reticulum quality control compartment  spermatid differentiation  membrane protein proteolysis involved in retrograde protein transport, ER to cytosol  regulation of male germ cell proliferation  
NDEx NetworkRHBDD1
Atlas of Cancer Signalling NetworkRHBDD1
Wikipedia pathwaysRHBDD1
Orthology - Evolution
OrthoDB84236
GeneTree (enSembl)ENSG00000144468
Phylogenetic Trees/Animal Genes : TreeFamRHBDD1
HOVERGENQ8TEB9
HOGENOMQ8TEB9
Homologs : HomoloGeneRHBDD1
Homology/Alignments : Family Browser (UCSC)RHBDD1
Gene fusions - Rearrangements
Fusion Cancer (Beijing)SLC30A6 [2p22.3]  -  RHBDD1 [2q36.3]  [FUSC004622]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRHBDD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RHBDD1
dbVarRHBDD1
ClinVarRHBDD1
1000_GenomesRHBDD1 
Exome Variant ServerRHBDD1
ExAC (Exome Aggregation Consortium)RHBDD1 (select the gene name)
Genetic variants : HAPMAP84236
Genomic Variants (DGV)RHBDD1 [DGVbeta]
DECIPHERRHBDD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRHBDD1 
Mutations
ICGC Data PortalRHBDD1 
TCGA Data PortalRHBDD1 
Broad Tumor PortalRHBDD1
OASIS PortalRHBDD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRHBDD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRHBDD1
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
BioMutasearch RHBDD1
DgiDB (Drug Gene Interaction Database)RHBDD1
DoCM (Curated mutations)RHBDD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RHBDD1 (select a term)
intoGenRHBDD1
Cancer3DRHBDD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenRHBDD1
Genetic Testing Registry RHBDD1
NextProtQ8TEB9 [Medical]
TSGene84236
GENETestsRHBDD1
Target ValidationRHBDD1
Huge Navigator RHBDD1 [HugePedia]
snp3D : Map Gene to Disease84236
BioCentury BCIQRHBDD1
ClinGenRHBDD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84236
Chemical/Pharm GKB GenePA143485593
Clinical trialRHBDD1
Miscellaneous
canSAR (ICR)RHBDD1 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRHBDD1
EVEXRHBDD1
GoPubMedRHBDD1
iHOPRHBDD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Sep 25 19:28:44 CEST 2017

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