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KAZALD1 (Kazal type serine peptidase inhibitor domain 1)

Identity

Alias_namesKazal-type serine protease inhibitor domain 1
Kazal-type serine peptidase inhibitor domain 1
Alias_symbol (synonym)FKSG40
FKSG28
Other aliasBONO1
IGFBP-rP10
HGNC (Hugo) KAZALD1
LocusID (NCBI) 81621
Atlas_Id 53179
Location 10q24.31  [Link to chromosome band 10q24]
Location_base_pair Starts at 102820999 and ends at 102827898 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KAZALD1 (10q24.31) / KAZALD1 (10q24.31)

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)KAZALD1   25460
Cards
Entrez_Gene (NCBI)KAZALD1  81621  Kazal type serine peptidase inhibitor domain 1
AliasesBONO1; FKSG28; FKSG40; IGFBP-rP10
GeneCards (Weizmann)KAZALD1
Ensembl hg19 (Hinxton)ENSG00000107821 [Gene_View]  chr10:102820999-102827898 [Contig_View]  KAZALD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000107821 [Gene_View]  chr10:102820999-102827898 [Contig_View]  KAZALD1 [Vega]
ICGC DataPortalENSG00000107821
TCGA cBioPortalKAZALD1
AceView (NCBI)KAZALD1
Genatlas (Paris)KAZALD1
WikiGenes81621
SOURCE (Princeton)KAZALD1
Genetics Home Reference (NIH)KAZALD1
Genomic and cartography
GoldenPath hg19 (UCSC)KAZALD1  -     chr10:102820999-102827898 +  10q24.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KAZALD1  -     10q24.31   [Description]    (hg38-Dec_2013)
EnsemblKAZALD1 - 10q24.31 [CytoView hg19]  KAZALD1 - 10q24.31 [CytoView hg38]
Mapping of homologs : NCBIKAZALD1 [Mapview hg19]  KAZALD1 [Mapview hg38]
OMIM609208   
Gene and transcription
Genbank (Entrez)AF333487 AK172862 AK172864 AK225949 AY014271
RefSeq transcript (Entrez)NM_001319303 NM_030929
RefSeq genomic (Entrez)NC_000010 NC_018921 NT_030059 NW_004929376
Consensus coding sequences : CCDS (NCBI)KAZALD1
Cluster EST : UnigeneHs.733496 [ NCBI ]
CGAP (NCI)Hs.733496
Alternative Splicing GalleryENSG00000107821
Gene ExpressionKAZALD1 [ NCBI-GEO ]   KAZALD1 [ EBI - ARRAY_EXPRESS ]   KAZALD1 [ SEEK ]   KAZALD1 [ MEM ]
Gene Expression Viewer (FireBrowse)KAZALD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)81621
GTEX Portal (Tissue expression)KAZALD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96I82   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96I82  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96I82
Splice isoforms : SwissVarQ96I82
PhosPhoSitePlusQ96I82
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    IGFBP_N_2 (PS51323)    KAZAL_2 (PS51465)   
Domains : Interpro (EBI)Growth_fac_rcpt_    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub2    IGFBP-like    IGFBP_rP_mac25    Kazal_dom   
Domain families : Pfam (Sanger)I-set (PF07679)    IGFBP (PF00219)    Kazal_2 (PF07648)   
Domain families : Pfam (NCBI)pfam07679    pfam00219    pfam07648   
Domain families : Smart (EMBL)IGc2 (SM00408)  KAZAL (SM00280)  
Conserved Domain (NCBI)KAZALD1
DMDM Disease mutations81621
Blocks (Seattle)KAZALD1
SuperfamilyQ96I82
Human Protein AtlasENSG00000107821
Peptide AtlasQ96I82
HPRD13755
IPIIPI00101678   IPI00185540   IPI01026103   
Protein Interaction databases
DIP (DOE-UCLA)Q96I82
IntAct (EBI)Q96I82
FunCoupENSG00000107821
BioGRIDKAZALD1
STRING (EMBL)KAZALD1
ZODIACKAZALD1
Ontologies - Pathways
QuickGOQ96I82
Ontology : AmiGOossification  regulation of cell growth  insulin-like growth factor binding  interstitial matrix  multicellular organism development  cell differentiation  extracellular matrix organization  
Ontology : EGO-EBIossification  regulation of cell growth  insulin-like growth factor binding  interstitial matrix  multicellular organism development  cell differentiation  extracellular matrix organization  
NDEx NetworkKAZALD1
Atlas of Cancer Signalling NetworkKAZALD1
Wikipedia pathwaysKAZALD1
Orthology - Evolution
OrthoDB81621
GeneTree (enSembl)ENSG00000107821
Phylogenetic Trees/Animal Genes : TreeFamKAZALD1
HOVERGENQ96I82
HOGENOMQ96I82
Homologs : HomoloGeneKAZALD1
Homology/Alignments : Family Browser (UCSC)KAZALD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKAZALD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KAZALD1
dbVarKAZALD1
ClinVarKAZALD1
1000_GenomesKAZALD1 
Exome Variant ServerKAZALD1
ExAC (Exome Aggregation Consortium)KAZALD1 (select the gene name)
Genetic variants : HAPMAP81621
Genomic Variants (DGV)KAZALD1 [DGVbeta]
DECIPHER (Syndromes)10:102820999-102827898  ENSG00000107821
CONAN: Copy Number AnalysisKAZALD1 
Mutations
ICGC Data PortalKAZALD1 
TCGA Data PortalKAZALD1 
Broad Tumor PortalKAZALD1
OASIS PortalKAZALD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKAZALD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKAZALD1
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 KAZALD1
DgiDB (Drug Gene Interaction Database)KAZALD1
DoCM (Curated mutations)KAZALD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KAZALD1 (select a term)
intoGenKAZALD1
Cancer3DKAZALD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609208   
Orphanet
MedgenKAZALD1
Genetic Testing Registry KAZALD1
NextProtQ96I82 [Medical]
TSGene81621
GENETestsKAZALD1
Huge Navigator KAZALD1 [HugePedia]
snp3D : Map Gene to Disease81621
BioCentury BCIQKAZALD1
ClinGenKAZALD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD81621
Chemical/Pharm GKB GenePA134953983
Clinical trialKAZALD1
Miscellaneous
canSAR (ICR)KAZALD1 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKAZALD1
EVEXKAZALD1
GoPubMedKAZALD1
iHOPKAZALD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:05:47 CEST 2017

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