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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
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

External links

Nomenclature
HGNC (Hugo)KAL1   6211
Cards
Entrez_Gene (NCBI)KAL1  3730  Kallmann syndrome 1 sequence
GeneCards (Weizmann)KAL1
Ensembl (Hinxton)ENSG00000011201 [Gene_View]  chrX:8496915-8700227 [Contig_View]  KAL1 [Vega]
ICGC DataPortalENSG00000011201
cBioPortalKAL1
AceView (NCBI)KAL1
Genatlas (Paris)KAL1
WikiGenes3730
SOURCE (Princeton)NM_000216
Genomic and cartography
GoldenPath (UCSC)KAL1  -  Xp22.31   chrX:8496915-8700227 -  Xp22.31   [Description]    (hg19-Feb_2009)
EnsemblKAL1 - Xp22.31 [CytoView]
Mapping of homologs : NCBIKAL1 [Mapview]
OMIM300836   308700   
Gene and transcription
Genbank (Entrez)AI582702 BC137426 BC137427 CN417843 M97252
RefSeq transcript (Entrez)NM_000216
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_007088 NT_167197 NW_001842360 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 ]
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)Fibronectin_type3 [organisation]   Ig-like_fold [organisation]   WAP-type_4-diS_core [organisation]  
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 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP23352
HPRD02393
IPIIPI00011174   
Protein Interaction databases
DIP (DOE-UCLA)P23352
IntAct (EBI)P23352
FunCoupENSG00000011201
BioGRIDKAL1
InParanoidP23352
Interologous Interaction database P23352
IntegromeDBKAL1
STRING (EMBL)KAL1
Ontologies - Pathways
Ontology : AmiGOserine-type endopeptidase inhibitor activity  extracellular matrix structural constituent  protein binding  proteinaceous extracellular matrix  extracellular space  plasma membrane  cellular component movement  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  cellular component movement  chemotaxis  cell adhesion  axon guidance  heparin binding  negative regulation of endopeptidase activity  
Protein Interaction DatabaseKAL1
Wikipedia pathwaysKAL1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)KAL1
snp3D : Map Gene to Disease3730
SNP (GeneSNP Utah)KAL1
SNP : HGBaseKAL1
Genetic variants : HAPMAPKAL1
Exome VariantKAL1
1000_GenomesKAL1 
ICGC programENSG00000011201 
Somatic Mutations in Cancer : COSMICKAL1 
CONAN: Copy Number AnalysisKAL1 
Mutations and Diseases : HGMDKAL1
Mutations and Diseases : intOGenKAL1
Genomic VariantsKAL1  KAL1 [DGVbeta]
dbVarKAL1
ClinVarKAL1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM300836    308700   
MedgenKAL1
GENETestsKAL1
Disease Genetic AssociationKAL1
Huge Navigator KAL1 [HugePedia]  KAL1 [HugeCancerGEM]
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
PubMed56 Pubmed reference(s) in Entrez
CoreMineKAL1
iHOPKAL1
OncoSearchKAL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:51:29 CEST 2014

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