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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KAZALD1 Gene

protein-coding   GIFtS: 52
GCID: GC10P102810

Kazal-Type Serine Peptidase Inhibitor Domain 1

(Previous name: Kazal-type serine protease inhibitor domain 1)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Kazal-Type Serine Peptidase Inhibitor Domain 11 2     IGFBP-rP102
Kazal-Type Serine Protease Inhibitor Domain 11 2     Bone- And Odontoblast-Expressed Gene 12
BONO12     IGFBP-Related Protein 102
FKSG282     Kazal-Type Serine Protease Inhibitor Domain-Containing Protein 12
FKSG402     Novel Kazal-Type Serine Protease Inhibitor Domain And Immunoglobulin
Domain Containing Protein2

External Ids:    HGNC: 254601   Entrez Gene: 816212   Ensembl: ENSG000001078217   OMIM: 6092085   UniProtKB: Q96I823   

Export aliases for KAZALD1 gene to outside databases

Previous GC identifers: GC10P102487 GC10P096450


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KAZALD1 Gene:
This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. It contains
an N-terminal insulin growth factor-binding domain, a central Kazal-type serine protease inhibitor and
follistatin-like domain, and a C-terminal immunoglobulin-like domain. Studies of the mouse ortholog suggest that
this gene product may have a function in bone development and bone regeneration. (provided by RefSeq, Feb 2009)

GeneCards Summary for KAZALD1 Gene: 
KAZALD1 (Kazal-type serine peptidase inhibitor domain 1) is a protein-coding gene. Diseases associated with KAZALD1 include malignant peritoneal mesothelioma, and malignant pleural mesothelioma. GO annotations related to this gene include insulin-like growth factor binding. An important paralog of this gene is IGFBP7.

UniProtKB/Swiss-Prot: KAZD1_HUMAN, Q96I82
Function: Involved in the proliferation of osteoblasts during bone formation and bone regeneration. Promotes
matrix assembly (By similarity)

Gene Wiki entry for KAZALD1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KAZALD1 gene promoter:
         NF-1/L   AML1a   Pax-5   Brachyury   CUTL1   MZF-1   CREB   deltaCREB   ARP-1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKAZALD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for KAZALD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KAZALD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24.31   Ensembl cytogenetic band:  10q24.31   HGNC cytogenetic band: 10q24.32

KAZALD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KAZALD1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P102810:  view genomic region     (about GC identifiers)

Start:
102,820,999 bp from pter      End:
102,827,888 bp from pter
Size:
6,890 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KAZD1_HUMAN, Q96I82 (See protein sequence)
Recommended Name: Kazal-type serine protease inhibitor domain-containing protein 1 precursor  
Size: 304 amino acids; 32945 Da
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
Secondary accessions: D3DR74 Q6ZMB1 Q9BQ73
Alternative splicing: 2 isoforms:  Q96I82-1   Q96I82-2   

Explore the universe of human proteins at neXtProt for KAZALD1: NX_Q96I82

Explore proteomics data for KAZALD1 at MOPED 

KAZALD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

KAZALD1 Protein Expression

REFSEQ proteins: NP_112191.2  
ENSEMBL proteins: 
 ENSP00000359219  

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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region ----
GO:0005614interstitial matrix IEA--
GO:0031012extracellular matrix ----

KAZALD1 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
ISET: Immunoglobulin superfamily / I-set domain containing

5/7 InterPro protein domains (see all 7):
 IPR003598 Ig_sub2
 IPR002350 Kazal_dom
 IPR013098 Ig_I-set
 IPR013783 Ig-like_fold
 IPR011390 IGFBP_rP_mac25

Graphical View of Domain Structure for InterPro Entry Q96I82

ProtoNet protein and cluster: Q96I82

3 Blocks protein domains:
IPB003598 Immunoglobulin C-2 type
IPB011497 Protease inhibitor
IPB013098 Immunoglobulin I-set


UniProtKB/Swiss-Prot: KAZD1_HUMAN, Q96I82
Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain
Similarity: Contains 1 IGFBP N-terminal domain
Similarity: Contains 1 Kazal-like domain


KAZALD1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: KAZD1_HUMAN, Q96I82
Function: Involved in the proliferation of osteoblasts during bone formation and bone regeneration. Promotes
matrix assembly (By similarity)

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
GO:0005520insulin-like growth factor binding IEA--
     
KAZALD1 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for KAZALD1:
 Increased gamma-H2AX phosphory 

     1 MGI phenotypic allele for Kazald1 (no phenotypes)

KAZALD1 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Kazald1tm1Lex for KAZALD1

   inGenious Targeting Laboratory - Custom generated mouse model solutions for KAZALD1 
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miRNA
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KAZALD1

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001503ossification IEA--
GO:0001558regulation of cell growth IEA--
GO:0007275multicellular organismal development IEA--
GO:0030154cell differentiation IEA--
GO:0030198extracellular matrix organization IEA--

KAZALD1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for KAZALD1 (KAZD1)

Search CenterWatch for drugs/clinical trials and news about KAZALD1 / KAZD1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KAZALD1 gene: 
NM_030929.4  

Unigene Cluster for KAZALD1:

Kazal-type serine peptidase inhibitor domain 1
Hs.632079  [show with all ESTs]
Unigene Representative Sequence: AK172864
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000370200(uc001ksr.3 uc001kss.4 uc001kst.1) ENST00000477979
ENST00000470106 ENST00000477267 ENST00000465807(uc001ksu.3)

miRNA
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hsa-miR-335
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Inhib. RNA
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Additional mRNA sequence: 

AK172862.1 AK172864.1 AK225949.1 AY359087.1 BC007758.2 

6 DOTS entries:

DT.95264894  DT.100000179  DT.121267200  DT.100020684  DT.92052860  DT.97839455 

24/75 AceView cDNA sequences (see all 75):

BM976051 BC007758 BQ943656 BM709870 AI658885 BU619382 BI766345 BU734232 
BC053611 CA393819 BG030637 NM_030929 AK172862 CA419201 BQ017738 AW205863 
BF512407 AI612949 AA534966 BF203282 BQ015297 CA424058 BF434771 BM919348 

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for KAZALD1 (see all 7)    About this scheme

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c · 7d
SP1:                                                                                      -     -                           
SP2:                                            -                                                                           
SP3:                                -     -     -                                         -     -                           
SP4:                                                                                -     -     -                           
SP5:                                -     -                                                                                 


ECgene alternative splicing isoforms for KAZALD1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KAZALD1 expression in normal human tissues (normalized intensities)      KAZALD1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
KAZALD1 Expression
About this image


KAZALD1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/15 selected tissues (see all 15) fully expand
 
 Skeletal Muscle (Muscoskeletal System)    fully expand to see all 6 entries
         Mononuclear Myocytes Hyoid Arch Muscles
 
 Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
         HyStem+BMP4-induced E15 cells
         Normal Human Articular chondrocytes (NHAC)   
 
 Bone (Muscoskeletal System)    fully expand to see all 3 entries
         Mandibular Process
         HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells
 
 Blood (Hematopoietic System)    fully expand to see all 3 entries
         Hematopoietic Stem Cells Hematopoietic Bone Marrow
         umbilical cord reticulocytes   
 
 Testis (Reproductive System)    fully expand to see all 2 entries
         Pre-Sertoli Cells Testis Cord
         Seminiferous Tubules

See KAZALD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KAZALD1

SOURCE GeneReport for Unigene cluster: Hs.632079
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for KAZALD1 gene from 5/13 species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Kazald11 , 5 Kazal-type serine peptidase inhibitor domain 11, 5 83.83(n)1
84.82(a)1
  19 (38.32 cM)5
1072501  NM_178929.41  NP_849260.21 
 450752415 
chicken
(Gallus gallus)
Aves KAZALD11 Kazal-type serine peptidase inhibitor domain 1 74.56(n)
73.87(a)
  423856  XM_421724.3  XP_421724.1 
lizard
(Anolis carolinensis)
Reptilia KAZALD16
--
Uncharacterized protein
62(a)
45(a)
1 ↔ 1
possible ortholog
GL343239.1(280271-296952)
1(129914314-129928554)
African clawed frog
(Xenopus laevis)
Amphibia Xl.195902 Xenopus laevis transcribed sequence with weak similarity more 76.92(n)    BQ387731.1 
zebrafish
(Danio rerio)
Actinopterygii kazald31 Kazal-type serine peptidase inhibitor domain 3 57.99(n)
53.88(a)
  100000101  NM_001123319.1  NP_001116791.1 


ENSEMBL Gene Tree for KAZALD1 (if available)
TreeFam Gene Tree for KAZALD1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for KAZALD1 gene
IGFBP72  IGFBPL12  
1 SIMAP similar gene for KAZALD1 using alignment to 1 protein entry:     KAZD1_HUMAN:
IGFBP7

KAZALD1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/160 SNPs in KAZALD1 are shown (see all 160)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 10 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1928834621,2
--102819025(+) TGGGCC/TAATTT 1 -- us2k10--------
rs8070391,2
C,F,A,H--102819050(-) AACCCC/TGTCTC 1 -- us2k17Minor allele frequency- T:0.13NA WA CSA 15
rs118129191,2
C,F,H--102819064(+) ccataG/Ttgacc 1 -- us2k12Minor allele frequency- T:0.50NA CSA 6
rs1845136891,2
--102819183(+) AAAGAA/GACATG 1 -- us2k10--------
rs1386287931,2
--102819281(+) TCATCA/GTTCTG 1 -- us2k10--------
rs1144418721,2
C,F--102819332(+) TGAACG/ATATGA 1 -- us2k11Minor allele frequency- A:0.05WA 118
rs1894492751,2
--102819384(+) CATTCC/TATACC 1 -- us2k10--------
rs575654891,2
C--102819544(+) CTAGCA/CGTATT 1 -- us2k12Minor allele frequency- C:0.04WA 120
rs1493318861,2
--102819572(+) AAAATC/TCCTTC 1 -- us2k10--------
rs107074051,2
C--102819793(+) TTTAC-/GGTATG 1 -- us2k10--------

HapMap Linkage Disequilibrium report for KAZALD1 (102820999 - 102827888 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for KAZALD1:    About this table     
Variant IDTypeSubtypePubMed ID
nsv895963CNV Loss21882294
nsv831965CNV Loss17160897

SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing KAZALD1
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 609208    OMIM disorders: --

4 diseases for KAZALD1:    About MalaCards
malignant peritoneal mesothelioma    malignant pleural mesothelioma    peritonitis    alzheimer's disease

2 diseases from the University of Copenhagen DISEASES database for KAZALD1:
Malignant peritoneal mesothelioma     Malignant pleural mesothelioma

KAZALD1 for disorders           About GeneDecksing


Congresses - knowledge worth sharing:  
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
Genetic Association Database (GAD): KAZALD1
Human Genome Epidemiology (HuGE) Navigator: KAZALD1 (1 document)

Export disorders for KAZALD1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for KAZALD1 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with KAZALD1)
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  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (2003)
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  5. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
  6. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
  7. Bono1: a gene associated with regions of deposition of bone and dentine. (PubMed id 15261838)1, 9 James M.J....Thesleff I. (2004)
  8. Characterization of DNA hypermethylation in two cases of peritoneal mesothelioma. (PubMed id 22836805)1 Hama R....Itoh F. (2012)
  9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
  10. Role of a new member of IGFBP superfamily, IGFBP-rP10, in proliferation and differentiation of osteoblastic cells. (PubMed id 15555553)1 Shibata Y....Yamaguchi A. (2004)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 81621 HGNC: 25460 AceView: KAZALD1 Ensembl:ENSG00000107821 euGenes: HUgn81621
ECgene: KAZALD1 H-InvDB: KAZALD1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for KAZALD1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for KAZALD1 gene:
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