Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KAL1 (Kallmann syndrome 1 sequence)

Identity

Other namesADMLX
HH1
HHA
KAL
KALIG-1
KMS
WFDC19
HGNC (Hugo) KAL1
LocusID (NCBI) 3730
Atlas_Id 51394
Location Xp22.31
Location_base_pair Starts at 8496915 and ends at 8700227 bp from pter ( according to hg19-Feb_2009)

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)KAL1   6211
Cards
Entrez_Gene (NCBI)KAL1  3730  Kallmann syndrome 1 sequence
GeneCards (Weizmann)KAL1
Ensembl hg19 (Hinxton)ENSG00000011201 [Gene_View]  chrX:8496915-8700227 [Contig_View]  KAL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000011201 [Gene_View]  chrX:8496915-8700227 [Contig_View]  KAL1 [Vega]
ICGC DataPortalENSG00000011201
TCGA cBioPortalKAL1
AceView (NCBI)KAL1
Genatlas (Paris)KAL1
WikiGenes3730
SOURCE (Princeton)KAL1
Genomic and cartography
GoldenPath hg19 (UCSC)KAL1  -     chrX:8496915-8700227 -  Xp22.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KAL1  -     Xp22.31   [Description]    (hg38-Dec_2013)
EnsemblKAL1 - Xp22.31 [CytoView hg19]  KAL1 - Xp22.31 [CytoView hg38]
Mapping of homologs : NCBIKAL1 [Mapview hg19]  KAL1 [Mapview hg38]
OMIM300836   308700   
Gene and transcription
Genbank (Entrez)AI582702 BC137426 BC137427 CN417843 M97252
RefSeq transcript (Entrez)NM_000216
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_007088 NT_167197 NW_004929438
Consensus coding sequences : CCDS (NCBI)KAL1
Cluster EST : UnigeneHs.521869 [ NCBI ]
CGAP (NCI)Hs.521869
Alternative Splicing : Fast-db (Paris)GSHG0031960
Alternative Splicing GalleryENSG00000011201
Gene ExpressionKAL1 [ NCBI-GEO ]     KAL1 [ SEEK ]   KAL1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP23352 (Uniprot)
NextProtP23352  [Medical]
With graphics : InterProP23352
Splice isoforms : SwissVarP23352 (Swissvar)
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    WAP (PS51390)   
Domains : Interpro (EBI)FN3_dom    Ig-like_fold    WAP   
Related proteins : CluSTrP23352
Domain families : Pfam (Sanger)fn3 (PF00041)    WAP (PF00095)   
Domain families : Pfam (NCBI)pfam00041    pfam00095   
Domain families : Smart (EMBL)FN3 (SM00060)  WAP (SM00217)  
DMDM Disease mutations3730
Blocks (Seattle)P23352
PDB (SRS)1ZLG   
PDB (PDBSum)1ZLG   
PDB (IMB)1ZLG   
PDB (RSDB)1ZLG   
Human Protein AtlasENSG00000011201
Peptide AtlasP23352
HPRD02393
IPIIPI00011174   
Protein Interaction databases
DIP (DOE-UCLA)P23352
IntAct (EBI)P23352
FunCoupENSG00000011201
BioGRIDKAL1
IntegromeDBKAL1
STRING (EMBL)KAL1
Ontologies - Pathways
QuickGOP23352
Ontology : AmiGOserine-type endopeptidase inhibitor activity  extracellular matrix structural constituent  protein binding  proteinaceous extracellular matrix  extracellular space  plasma membrane  movement of cell or subcellular component  chemotaxis  cell adhesion  axon guidance  heparin binding  negative regulation of endopeptidase activity  
Ontology : EGO-EBIserine-type endopeptidase inhibitor activity  extracellular matrix structural constituent  protein binding  proteinaceous extracellular matrix  extracellular space  plasma membrane  movement of cell or subcellular component  chemotaxis  cell adhesion  axon guidance  heparin binding  negative regulation of endopeptidase activity  
Protein Interaction DatabaseKAL1
DoCM (Curated mutations)KAL1
Wikipedia pathwaysKAL1
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerKAL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KAL1
dbVarKAL1
ClinVarKAL1
1000_GenomesKAL1 
Exome Variant ServerKAL1
SNP (GeneSNP Utah)KAL1
SNP : HGBaseKAL1
Genetic variants : HAPMAPKAL1
Genomic Variants (DGV)KAL1 [DGVbeta]
Mutations
ICGC Data PortalKAL1 
TCGA Data PortalKAL1 
Tumor PortalKAL1
Somatic Mutations in Cancer : COSMICKAL1 
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)X-chromosome gene database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:8496915-8700227
CONAN: Copy Number AnalysisKAL1 
Mutations and Diseases : HGMDKAL1
OMIM300836    308700   
MedgenKAL1
NextProtP23352 [Medical]
GENETestsKAL1
Disease Genetic AssociationKAL1
Huge Navigator KAL1 [HugePedia]  KAL1 [HugeCancerGEM]
snp3D : Map Gene to Disease3730
DGIdb (Drug Gene Interaction db)KAL1
General knowledge
Homologs : HomoloGeneKAL1
Homology/Alignments : Family Browser (UCSC)KAL1
Phylogenetic Trees/Animal Genes : TreeFamKAL1
Chemical/Protein Interactions : CTD3730
Chemical/Pharm GKB GenePA30012
Clinical trialKAL1
Cancer Resource (Charite)ENSG00000011201
Other databases
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
CoreMineKAL1
GoPubMedKAL1
iHOPKAL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Apr 13 14:37:54 CEST 2015

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