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KAZALD1 (Kazal type serine peptidase inhibitor domain 1)

Identity

Alias (NCBI)BONO1
FKSG28
FKSG40
IGFBP-rP10
HGNC (Hugo) KAZALD1
HGNC Alias symbFKSG40
FKSG28
HGNC Previous nameKazal-type serine protease inhibitor domain 1
 Kazal-type serine peptidase inhibitor domain 1
LocusID (NCBI) 81621
Atlas_Id 53179
Location 10q24.31  [Link to chromosome band 10q24]
Location_base_pair Starts at 101061989 and ends at 101067059 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)
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    Kazal type serine peptidase inhibitor domain 1
AliasesBONO1; FKSG28; FKSG40; IGFBP-rP10
GeneCards (Weizmann)KAZALD1
Ensembl hg19 (Hinxton)ENSG00000107821 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107821 [Gene_View]  ENSG00000107821 [Sequence]  chr10:101061989-101067059 [Contig_View]  KAZALD1 [Vega]
ICGC DataPortalENSG00000107821
TCGA cBioPortalKAZALD1
AceView (NCBI)KAZALD1
Genatlas (Paris)KAZALD1
SOURCE (Princeton)KAZALD1
Genetics Home Reference (NIH)KAZALD1
Genomic and cartography
GoldenPath hg38 (UCSC)KAZALD1  -     chr10:101061989-101067059 +  10q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KAZALD1  -     10q24.31   [Description]    (hg19-Feb_2009)
GoldenPathKAZALD1 - 10q24.31 [CytoView hg19]  KAZALD1 - 10q24.31 [CytoView hg38]
ImmunoBaseENSG00000107821
Genome Data Viewer NCBIKAZALD1 [Mapview hg19]  
OMIM609208   
Gene and transcription
Genbank (Entrez)AF333487 AK172862 AK172864 AK225949 AY014271
RefSeq transcript (Entrez)NM_001319303 NM_030929
Consensus coding sequences : CCDS (NCBI)KAZALD1
Gene ExpressionKAZALD1 [ NCBI-GEO ]   KAZALD1 [ EBI - ARRAY_EXPRESS ]   KAZALD1 [ SEEK ]   KAZALD1 [ MEM ]
Gene Expression Viewer (FireBrowse)KAZALD1 [ Firebrowse - Broad ]
GenevisibleExpression of KAZALD1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)81621
GTEX Portal (Tissue expression)KAZALD1
Human Protein AtlasENSG00000107821-KAZALD1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ96I82
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    IGFBP_N_2 (PS51323)    KAZAL_2 (PS51465)   
Domains : Interpro (EBI)Growth_fac_rcpt_cys_sf    Ig-like_dom    Ig-like_dom_sf    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2    IGFBP-like    IGFBP_rP_mac25    Kazal_dom    Kazal_dom_sf   
Domain families : Pfam (Sanger)I-set (PF07679)    IGFBP (PF00219)    Kazal_2 (PF07648)   
Domain families : Pfam (NCBI)pfam07679    pfam00219    pfam07648   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  KAZAL (SM00280)  
Conserved Domain (NCBI)KAZALD1
SuperfamilyQ96I82
AlphaFold pdb e-kbQ96I82   
Human Protein Atlas [tissue]ENSG00000107821-KAZALD1 [tissue]
HPRD13755
Protein Interaction databases
DIP (DOE-UCLA)Q96I82
IntAct (EBI)Q96I82
BioGRIDKAZALD1
STRING (EMBL)KAZALD1
ZODIACKAZALD1
Ontologies - Pathways
QuickGOQ96I82
Ontology : AmiGOossification  regulation of cell growth  protein binding  insulin-like growth factor binding  extracellular region  interstitial matrix  multicellular organism development  regulation of signal transduction  cell differentiation  extracellular matrix organization  
Ontology : EGO-EBIossification  regulation of cell growth  protein binding  insulin-like growth factor binding  extracellular region  interstitial matrix  multicellular organism development  regulation of signal transduction  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
Homologs : HomoloGeneKAZALD1
Homology/Alignments : Family Browser (UCSC)KAZALD1
Gene fusions - Rearrangements
Fusion : QuiverKAZALD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKAZALD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KAZALD1
dbVarKAZALD1
ClinVarKAZALD1
MonarchKAZALD1
1000_GenomesKAZALD1 
Exome Variant ServerKAZALD1
GNOMAD BrowserENSG00000107821
Varsome BrowserKAZALD1
ACMGKAZALD1 variants
VarityQ96I82
Genomic Variants (DGV)KAZALD1 [DGVbeta]
DECIPHERKAZALD1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DKAZALD1
Mutations and Diseases : HGMDKAZALD1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaKAZALD1
DgiDB (Drug Gene Interaction Database)KAZALD1
DoCM (Curated mutations)KAZALD1
CIViC (Clinical Interpretations of Variants in Cancer)KAZALD1
Cancer3DKAZALD1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609208   
Orphanet
DisGeNETKAZALD1
MedgenKAZALD1
Genetic Testing Registry KAZALD1
NextProtQ96I82 [Medical]
GENETestsKAZALD1
Target ValidationKAZALD1
Huge Navigator KAZALD1 [HugePedia]
ClinGenKAZALD1
Clinical trials, drugs, therapy
MyCancerGenomeKAZALD1
Protein Interactions : CTDKAZALD1
Pharm GKB GenePA134953983
PharosQ96I82
Clinical trialKAZALD1
Miscellaneous
canSAR (ICR)KAZALD1
HarmonizomeKAZALD1
DataMed IndexKAZALD1
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXKAZALD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:14:35 CEST 2021

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