Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1)

Identity

Alias_namesNHL repeat containing 1
Alias_symbol (synonym)bA204B7.2
EPM2B
malin
Other aliasEPM2A
MALIN
HGNC (Hugo) NHLRC1
LocusID (NCBI) 378884
Atlas_Id 70823
Location 6p22.3  [Link to chromosome band 6p22]
Location_base_pair Starts at 18120487 and ends at 18122620 bp from pter ( according to hg38-Dec_2013)

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)NHLRC1   21576
Cards
Entrez_Gene (NCBI)NHLRC1  378884  NHL repeat containing E3 ubiquitin protein ligase 1
AliasesEPM2A; EPM2B; MALIN; bA204B7.2
GeneCards (Weizmann)NHLRC1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr6:18120487-18122620 [Contig_View]  NHLRC1 [Vega]
TCGA cBioPortalNHLRC1
AceView (NCBI)NHLRC1
Genatlas (Paris)NHLRC1
WikiGenes378884
SOURCE (Princeton)NHLRC1
Genetics Home Reference (NIH)NHLRC1
Genomic and cartography
GoldenPath hg38 (UCSC)NHLRC1  -     chr6:18120487-18122620 -  6p22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NHLRC1  -     6p22.3   [Description]    (hg19-Feb_2009)
EnsemblNHLRC1 - 6p22.3 [CytoView hg19]  NHLRC1 - 6p22.3 [CytoView hg38]
Mapping of homologs : NCBINHLRC1 [Mapview hg19]  NHLRC1 [Mapview hg38]
OMIM254780   608072   
Gene and transcription
Genbank (Entrez)AY324850 BC103888 BC103889 BC103890 BK001510
RefSeq transcript (Entrez)NM_198586
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NHLRC1
Cluster EST : UnigeneHs.348351 [ NCBI ]
CGAP (NCI)Hs.348351
Gene ExpressionNHLRC1 [ NCBI-GEO ]   NHLRC1 [ EBI - ARRAY_EXPRESS ]   NHLRC1 [ SEEK ]   NHLRC1 [ MEM ]
Gene Expression Viewer (FireBrowse)NHLRC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)378884
GTEX Portal (Tissue expression)NHLRC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6VVB1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6VVB1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6VVB1
Splice isoforms : SwissVarQ6VVB1
Catalytic activity : Enzyme2.3.2.27 [ Enzyme-Expasy ]   2.3.2.272.3.2.27 [ IntEnz-EBI ]   2.3.2.27 [ BRENDA ]   2.3.2.27 [ KEGG ]   
PhosPhoSitePlusQ6VVB1
Domaine pattern : Prosite (Expaxy)NHL (PS51125)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)6-blade_b-propeller_TolB-like    NHL_repeat_subgr    Znf_RING    Znf_RING/FYVE/PHD    Znf_RING_CS   
Domain families : Pfam (Sanger)zf-RING_5 (PF14634)   
Domain families : Pfam (NCBI)pfam14634   
Domain families : Smart (EMBL)RING (SM00184)  
Conserved Domain (NCBI)NHLRC1
DMDM Disease mutations378884
Blocks (Seattle)NHLRC1
SuperfamilyQ6VVB1
Peptide AtlasQ6VVB1
HPRD06995
IPIIPI00440247   
Protein Interaction databases
DIP (DOE-UCLA)Q6VVB1
IntAct (EBI)Q6VVB1
BioGRIDNHLRC1
STRING (EMBL)NHLRC1
ZODIACNHLRC1
Ontologies - Pathways
QuickGOQ6VVB1
Ontology : AmiGOprotein polyubiquitination  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  nucleus  endoplasmic reticulum  cytosol  glycogen biosynthetic process  autophagy  zinc ion binding  positive regulation of protein ubiquitination  proteasome-mediated ubiquitin-dependent protein catabolic process  perinuclear region of cytoplasm  ubiquitin protein ligase activity  
Ontology : EGO-EBIprotein polyubiquitination  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  nucleus  endoplasmic reticulum  cytosol  glycogen biosynthetic process  autophagy  zinc ion binding  positive regulation of protein ubiquitination  proteasome-mediated ubiquitin-dependent protein catabolic process  perinuclear region of cytoplasm  ubiquitin protein ligase activity  
Pathways : KEGGUbiquitin mediated proteolysis   
NDEx NetworkNHLRC1
Atlas of Cancer Signalling NetworkNHLRC1
Wikipedia pathwaysNHLRC1
Orthology - Evolution
OrthoDB378884
Phylogenetic Trees/Animal Genes : TreeFamNHLRC1
HOVERGENQ6VVB1
HOGENOMQ6VVB1
Homologs : HomoloGeneNHLRC1
Homology/Alignments : Family Browser (UCSC)NHLRC1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNHLRC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NHLRC1
dbVarNHLRC1
ClinVarNHLRC1
1000_GenomesNHLRC1 
Exome Variant ServerNHLRC1
ExAC (Exome Aggregation Consortium)NHLRC1 (select the gene name)
Genetic variants : HAPMAP378884
Genomic Variants (DGV)NHLRC1 [DGVbeta]
DECIPHERNHLRC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNHLRC1 
Mutations
ICGC Data PortalNHLRC1 
TCGA Data PortalNHLRC1 
Broad Tumor PortalNHLRC1
OASIS PortalNHLRC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNHLRC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNHLRC1
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 NHLRC1
DgiDB (Drug Gene Interaction Database)NHLRC1
DoCM (Curated mutations)NHLRC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NHLRC1 (select a term)
intoGenNHLRC1
Cancer3DNHLRC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM254780    608072   
Orphanet117   
MedgenNHLRC1
Genetic Testing Registry NHLRC1
NextProtQ6VVB1 [Medical]
TSGene378884
GENETestsNHLRC1
Target ValidationNHLRC1
Huge Navigator NHLRC1 [HugePedia]
snp3D : Map Gene to Disease378884
BioCentury BCIQNHLRC1
ClinGenNHLRC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD378884
Chemical/Pharm GKB GenePA134916338
Clinical trialNHLRC1
Miscellaneous
canSAR (ICR)NHLRC1 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNHLRC1
EVEXNHLRC1
GoPubMedNHLRC1
iHOPNHLRC1
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 18 13:32:00 CEST 2017

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