Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CARNS1 (carnosine synthase 1)

Identity

Alias_namesATPGD1
ATP-grasp domain containing 1
Alias_symbol (synonym)KIAA1394
Other alias
HGNC (Hugo) CARNS1
LocusID (NCBI) 57571
Atlas_Id 61422
Location 11q13.2  [Link to chromosome band 11q13]
Location_base_pair Starts at 67415678 and ends at 67425607 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FCHSD2 (11q13.4) / CARNS1 (11q13.2)

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)CARNS1   29268
Cards
Entrez_Gene (NCBI)CARNS1  57571  carnosine synthase 1
AliasesATPGD1
GeneCards (Weizmann)CARNS1
Ensembl hg19 (Hinxton)ENSG00000172508 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172508 [Gene_View]  chr11:67415678-67425607 [Contig_View]  CARNS1 [Vega]
ICGC DataPortalENSG00000172508
TCGA cBioPortalCARNS1
AceView (NCBI)CARNS1
Genatlas (Paris)CARNS1
WikiGenes57571
SOURCE (Princeton)CARNS1
Genetics Home Reference (NIH)CARNS1
Genomic and cartography
GoldenPath hg38 (UCSC)CARNS1  -     chr11:67415678-67425607 +  11q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CARNS1  -     11q13.2   [Description]    (hg19-Feb_2009)
EnsemblCARNS1 - 11q13.2 [CytoView hg19]  CARNS1 - 11q13.2 [CytoView hg38]
Mapping of homologs : NCBICARNS1 [Mapview hg19]  CARNS1 [Mapview hg38]
OMIM613368   
Gene and transcription
Genbank (Entrez)AB037815 AK289938 AK294035 AK295331 BC036557
RefSeq transcript (Entrez)NM_001166222 NM_020811
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CARNS1
Cluster EST : UnigeneHs.502982 [ NCBI ]
CGAP (NCI)Hs.502982
Alternative Splicing GalleryENSG00000172508
Gene ExpressionCARNS1 [ NCBI-GEO ]   CARNS1 [ EBI - ARRAY_EXPRESS ]   CARNS1 [ SEEK ]   CARNS1 [ MEM ]
Gene Expression Viewer (FireBrowse)CARNS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57571
GTEX Portal (Tissue expression)CARNS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtA5YM72   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA5YM72  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA5YM72
Splice isoforms : SwissVarA5YM72
Catalytic activity : Enzyme6.3.2.11 [ Enzyme-Expasy ]   6.3.2.116.3.2.11 [ IntEnz-EBI ]   6.3.2.11 [ BRENDA ]   6.3.2.11 [ KEGG ]   
PhosPhoSitePlusA5YM72
Domaine pattern : Prosite (Expaxy)ATP_GRASP (PS50975)   
Domains : Interpro (EBI)ATP-grasp    ATP_grasp_subdomain_2    CARNS1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CARNS1
DMDM Disease mutations57571
Blocks (Seattle)CARNS1
SuperfamilyA5YM72
Human Protein AtlasENSG00000172508
Peptide AtlasA5YM72
IPIIPI00847271   IPI00942719   IPI00889615   IPI01011364   IPI01018835   IPI00984964   
Protein Interaction databases
DIP (DOE-UCLA)A5YM72
IntAct (EBI)A5YM72
FunCoupENSG00000172508
BioGRIDCARNS1
STRING (EMBL)CARNS1
ZODIACCARNS1
Ontologies - Pathways
QuickGOA5YM72
Ontology : AmiGOATP binding  cellular_component  cytosol  histidine catabolic process  ATPase activity  carnosine biosynthetic process  metal ion binding  carnosine synthase activity  carnosine synthase activity  
Ontology : EGO-EBIATP binding  cellular_component  cytosol  histidine catabolic process  ATPase activity  carnosine biosynthetic process  metal ion binding  carnosine synthase activity  carnosine synthase activity  
Pathways : KEGGArginine and proline metabolism    Histidine metabolism    beta-Alanine metabolism   
NDEx NetworkCARNS1
Atlas of Cancer Signalling NetworkCARNS1
Wikipedia pathwaysCARNS1
Orthology - Evolution
OrthoDB57571
GeneTree (enSembl)ENSG00000172508
Phylogenetic Trees/Animal Genes : TreeFamCARNS1
HOVERGENA5YM72
HOGENOMA5YM72
Homologs : HomoloGeneCARNS1
Homology/Alignments : Family Browser (UCSC)CARNS1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCARNS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CARNS1
dbVarCARNS1
ClinVarCARNS1
1000_GenomesCARNS1 
Exome Variant ServerCARNS1
ExAC (Exome Aggregation Consortium)CARNS1 (select the gene name)
Genetic variants : HAPMAP57571
Genomic Variants (DGV)CARNS1 [DGVbeta]
DECIPHERCARNS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCARNS1 
Mutations
ICGC Data PortalCARNS1 
TCGA Data PortalCARNS1 
Broad Tumor PortalCARNS1
OASIS PortalCARNS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCARNS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCARNS1
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 CARNS1
DgiDB (Drug Gene Interaction Database)CARNS1
DoCM (Curated mutations)CARNS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CARNS1 (select a term)
intoGenCARNS1
Cancer3DCARNS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613368   
Orphanet
MedgenCARNS1
Genetic Testing Registry CARNS1
NextProtA5YM72 [Medical]
TSGene57571
GENETestsCARNS1
Target ValidationCARNS1
Huge Navigator CARNS1 [HugePedia]
snp3D : Map Gene to Disease57571
BioCentury BCIQCARNS1
ClinGenCARNS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57571
Chemical/Pharm GKB GenePA165543288
Clinical trialCARNS1
Miscellaneous
canSAR (ICR)CARNS1 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCARNS1
EVEXCARNS1
GoPubMedCARNS1
iHOPCARNS1
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 13:03:53 CEST 2017

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