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ANOS1 (anosmin 1)

Identity

Alias_namesKAL
ADMLX
KAL1
Kallmann syndrome 1 sequence
Alias_symbol (synonym)KALIG-1
WFDC19
Other aliasHH1
HHA
KMS
HGNC (Hugo) ANOS1
LocusID (NCBI) 3730
Atlas_Id 55176
Location Xp22.31  [Link to chromosome band Xp22]
Location_base_pair Starts at 8528874 and ends at 8732187 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)
ANOS1 (Xp22.31) / ARHGEF26 (3q25.2)KDM6A (Xp11.3) / ANOS1 (Xp22.31)

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)ANOS1   6211
Cards
Entrez_Gene (NCBI)ANOS1  3730  anosmin 1
AliasesADMLX; HH1; HHA; KAL; 
KAL1; KALIG-1; KMS; WFDC19
GeneCards (Weizmann)ANOS1
Ensembl hg19 (Hinxton)ENSG00000011201 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000011201 [Gene_View]  chrX:8528874-8732187 [Contig_View]  ANOS1 [Vega]
ICGC DataPortalENSG00000011201
TCGA cBioPortalANOS1
AceView (NCBI)ANOS1
Genatlas (Paris)ANOS1
WikiGenes3730
SOURCE (Princeton)ANOS1
Genetics Home Reference (NIH)ANOS1
Genomic and cartography
GoldenPath hg38 (UCSC)ANOS1  -     chrX:8528874-8732187 -  Xp22.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ANOS1  -     Xp22.31   [Description]    (hg19-Feb_2009)
EnsemblANOS1 - Xp22.31 [CytoView hg19]  ANOS1 - Xp22.31 [CytoView hg38]
Mapping of homologs : NCBIANOS1 [Mapview hg19]  ANOS1 [Mapview hg38]
OMIM300836   308700   
Gene and transcription
Genbank (Entrez)AA678961 AH003768 AI582702 BC137426 BC137427
RefSeq transcript (Entrez)NM_000216
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ANOS1
Cluster EST : UnigeneHs.521869 [ NCBI ]
CGAP (NCI)Hs.521869
Alternative Splicing GalleryENSG00000011201
Gene ExpressionANOS1 [ NCBI-GEO ]   ANOS1 [ EBI - ARRAY_EXPRESS ]   ANOS1 [ SEEK ]   ANOS1 [ MEM ]
Gene Expression Viewer (FireBrowse)ANOS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3730
GTEX Portal (Tissue expression)ANOS1
Human Protein AtlasENSG00000011201-ANOS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP23352   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP23352  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP23352
Splice isoforms : SwissVarP23352
PhosPhoSitePlusP23352
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    WAP (PS51390)   
Domains : Interpro (EBI)FN3_dom    Ig-like_fold    WAP_dom   
Domain families : Pfam (Sanger)fn3 (PF00041)    WAP (PF00095)   
Domain families : Pfam (NCBI)pfam00041    pfam00095   
Domain families : Smart (EMBL)FN3 (SM00060)  WAP (SM00217)  
Conserved Domain (NCBI)ANOS1
DMDM Disease mutations3730
Blocks (Seattle)ANOS1
PDB (SRS)1ZLG   
PDB (PDBSum)1ZLG   
PDB (IMB)1ZLG   
PDB (RSDB)1ZLG   
Structural Biology KnowledgeBase1ZLG   
SCOP (Structural Classification of Proteins)1ZLG   
CATH (Classification of proteins structures)1ZLG   
SuperfamilyP23352
Human Protein Atlas [tissue]ENSG00000011201-ANOS1 [tissue]
Peptide AtlasP23352
HPRD02393
IPIIPI00011174   
Protein Interaction databases
DIP (DOE-UCLA)P23352
IntAct (EBI)P23352
FunCoupENSG00000011201
BioGRIDANOS1
STRING (EMBL)ANOS1
ZODIACANOS1
Ontologies - Pathways
QuickGOP23352
Ontology : AmiGOserine-type endopeptidase inhibitor activity  extracellular matrix structural constituent  protein binding  extracellular region  proteinaceous extracellular matrix  extracellular space  plasma membrane  movement of cell or subcellular component  chemotaxis  cell adhesion  axon guidance  heparin binding  fibroblast growth factor receptor signaling pathway  negative regulation of endopeptidase activity  
Ontology : EGO-EBIserine-type endopeptidase inhibitor activity  extracellular matrix structural constituent  protein binding  extracellular region  proteinaceous extracellular matrix  extracellular space  plasma membrane  movement of cell or subcellular component  chemotaxis  cell adhesion  axon guidance  heparin binding  fibroblast growth factor receptor signaling pathway  negative regulation of endopeptidase activity  
NDEx NetworkANOS1
Atlas of Cancer Signalling NetworkANOS1
Wikipedia pathwaysANOS1
Orthology - Evolution
OrthoDB3730
GeneTree (enSembl)ENSG00000011201
Phylogenetic Trees/Animal Genes : TreeFamANOS1
HOVERGENP23352
HOGENOMP23352
Homologs : HomoloGeneANOS1
Homology/Alignments : Family Browser (UCSC)ANOS1
Gene fusions - Rearrangements
Fusion : MitelmanANOS1/ARHGEF26 [Xp22.31/3q25.2]  
Fusion : MitelmanKDM6A/ANOS1 [Xp11.3/Xp22.31]  [t(X;X)(p11;p22)]  
Tumor Fusion PortalANOS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANOS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANOS1
dbVarANOS1
ClinVarANOS1
1000_GenomesANOS1 
Exome Variant ServerANOS1
ExAC (Exome Aggregation Consortium)ENSG00000011201
GNOMAD BrowserENSG00000011201
Genetic variants : HAPMAP3730
Genomic Variants (DGV)ANOS1 [DGVbeta]
DECIPHERANOS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisANOS1 
Mutations
ICGC Data PortalANOS1 
TCGA Data PortalANOS1 
Broad Tumor PortalANOS1
OASIS PortalANOS1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDANOS1
BioMutasearch ANOS1
DgiDB (Drug Gene Interaction Database)ANOS1
DoCM (Curated mutations)ANOS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANOS1 (select a term)
intoGenANOS1
Cancer3DANOS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300836    308700   
Orphanet3249    8668   
DisGeNETANOS1
MedgenANOS1
Genetic Testing Registry ANOS1
NextProtP23352 [Medical]
TSGene3730
GENETestsANOS1
Target ValidationANOS1
Huge Navigator ANOS1 [HugePedia]
snp3D : Map Gene to Disease3730
BioCentury BCIQANOS1
ClinGenANOS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3730
Chemical/Pharm GKB GenePA30012
Clinical trialANOS1
Miscellaneous
canSAR (ICR)ANOS1 (select the gene name)
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANOS1
EVEXANOS1
GoPubMedANOS1
iHOPANOS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:03:07 CET 2017

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