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KAZALD1 Gene

protein-coding   GIFtS: 47

GC10P102810
Kazal-type serine peptidase inhibitor domain 1
(Previous name: Kazal-type serine protease inhibitor domain 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
BONO1 2
FKSG28 1, 2
FKSG40 1, 2
FLJ24094 2
IGFBP-rP10 2
OTTHUMP00000020298 2
Descriptions
IGFBP-related protein 10 2
Kazal-type serine peptidase inhibitor domain 1 2
Kazal-type serine protease inhibitor domain 1 1, 2
bone- and odontoblast-expressed gene 1 2
novel kazal-type serine protease inhibitor domain and
immunoglobulin domain containing protein 2
External Ids
HGNC: 254601
Entrez Gene: 816212
UniProtKB: Q96I823
Ensembl: ENSG000001078217
Search outside databases for aliases for KAZALD1 gene

Previous GC identifer: GC10P102487

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for KAZALD1:
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]

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the KAZALD1 gene  

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)

GeneLoc gene densities for chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P102810:     (about GC identifiers)

Start:
102,811,588 bp from pter
End:
102,817,878 bp from pter
Size:
6,291 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000010.9  NT_030059.12  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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: Q6ZMB1 Q9BQ73
Alternative splicing: 2 isoforms:  Q96I82-1   Q96I82-2   

REFSEQ proteins: NP_112191.2  

ENSEMBL proteins: 
ENSP00000313288 ENSP00000359218 ENSP00000359219 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
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Browse recombinant and purified proteins available from Enzo Life Sciences
Browse Abcam for Recombinant Proteins
Browse Abnova for Human Recombinant Proteins
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005576 extracellular region IEA--
GO:0005578 proteinaceous extracellular matrix IEA--
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Antibodies for KAZALD1: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for KAZALD1
R&D Systems Antibodies for KAZALD1 (IGFBP-rP10)
Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for KAZALD1

Assays for KAZALD1: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

5/8 InterPro domains/families (see all 8 ):
 IPR003598 Ig_sub2
 IPR002350 Prot_inh_Kazal
 IPR013098 Ig_I-set
 IPR013783 Ig-like_fold
 IPR011390 IGFBP_rP_mac25


   GeneDecks  KAZALD1 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q96I82

ProtoNet protein and cluster: Q96I82

3 Blocks protein families:
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

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (KAZALD1)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_030929

              Applied Biosystems Silencer® siRNAs for KAZALD1

              Sigma-Aldrich siRNA for KAZALD1  
                     Sigma-Aldrich shRNA for KAZALD1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_030929
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_030929
                                 untagged cDNA clone in CMV expression vector: NM_030929 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_030929

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

1 Gene Ontology (GO) molecular function term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005520 insulin-like growth factor binding IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


  --

4 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0001503 ossification IEA--
GO:0001558 regulation of cell growth IEA--
GO:0007275 multicellular organismal development IEA--
GO:0030154 cell differentiation IEA--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for KAZALD1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (KAZALD1)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_030929

              Sigma-Aldrich siRNA for KAZALD1  
                     Sigma-Aldrich shRNA for KAZALD1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_030929  

REFSEQ mRNAs for KAZALD1 gene: 

NM_030929.4   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_030929  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_030929
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_030929
                                 untagged cDNA clone in CMV expression vector: NM_030929 

Additional cDNA sequence: 

AK172862.1 AK172864.1 AK225949.1 AY359087.1 BC007758.2 BC012394.1 BC053611.1 

8 DOTS entries:

DT.95264894  DT.100000179  DT.92032324  DT.100016945  DT.121267200  DT.97839455  DT.100020684  DT.92052860 

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

BQ943656 BC053611 BM709870 AI658885 BC007758 BU619382 AK172862 NM_030929 
BG030637 BQ017738 BM976051 BU734232 BI766345 CA419201 CA393819 BF434771 
BI834297 AI075710 AW205863 BQ014317 BP357463 AI377545 BM749471 AI612949 

highest scoring ESTs for KAZALD1:

AI075710 AA688321 AA896981 AF333487 AK172862 AY014271 AY359087 BC007758 BI766345 BI838313 

Unigene Cluster for KAZALD1:

Kazal-type serine peptidase inhibitor domain 1
Hs.632079  [show with all ESTs]
Unigene Representative Sequence: AK172864


GeneLoc Exon Structure

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

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:                                -     -                                                                                 

About this scheme

ECgene alternative splicing isoforms for KAZALD1

3 Ensembl transcripts including schematic representations:
ENST00000313664  ENST00000370199  ENST00000370200  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

KAZALD1 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for KAZALD1

1 / 2 / 3

7 probe-sets matching KAZALD1 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

36351_at2, 3 U95-A 1 1.00 1.00 0.91 0.56 W28828 0.80 1.00 0.91 1
74965_at2, 3 U95-E 1 1.00 1.00 0.92 1.49 AI075710 1.00 1.00 1.00 1

221000_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_030929 0.60 1.00 0.82 1

217511_at2, 3 U133-A 1 0.82 1.00 -- -- W28828 0.80 1.00 0.91 1

221000_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

217511_at2 U133Plus2 1 0.82 1.00 -- -- -- -- -- -- --

1568598_at2 U133Plus2 1 0.73 1.00 -- -- -- -- -- -- --
GeneDecks  KAZALD1 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.632079

Expression variation in blood from EXPOLDB for KAZALD1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for KAZALD1 gene from 5/9 species (see all 9 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
KAZALD11   -- Kazal-type serine peptidase inhibitor domain 1 89.56(n)
92.33(a)
609313  XM_846557.1  XP_851650.1 
chimpanzee
(Pan troglodytes)
KAZALD11   -- Kazal-type serine peptidase inhibitor domain 1 99.01(n)
97.69(a)
450684  XM_001169573.1  XP_001169573.1 
cow
(Bos taurus)
KAZALD11   -- Kazal-type serine peptidase inhibitor domain 1 90.03(n)
93.02(a)
617445  XM_869707.2  XP_874800.2 
rat
(Rattus norvegicus)
Kazald11   -- Kazal-type serine peptidase inhibitor domain 1 83.73(n)
85.19(a)
293997  NM_001033064.1  NP_001028236.1 
mouse
(Mus musculus)
Kazald11, 5 195
Kazal-type serine peptidase inhibitor domain 11, 5 83.5(n)1
84.16(a)1
1072501  NM_178929.31  NP_849260.11 
 AA2886535  AI8423535  (see all 13)
About this table        Species with no ortholog for KAZALD1

ENSEMBL Gene Tree for KAZALD1
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for KAZALD1 gene
IGFBP72  IGFBPL12  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/26 NCBI SNPs in KAZALD1 are shown (see all 26 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 39)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 10 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs8070371,2
A,C,F,H102814339(-) TGCGGG/CCAAGG 1 A/G mis1 ese315Minor allele frequency- C:0.47NA EU EA WA 1390
rs111908121,2
C,F,H102814282(+) GACTGG/ACTGGC 1 D/G mis1 ese39Minor allele frequency- A:0.24EU EA WA NA 912
rs22978511,2
C,F,H102810382(-) AGAAGG/AGGAAC 1 -- ng51 trp35Minor allele frequency- A:0.05EA EU WA 1906
rs123598431,2
A,C102814750(+) AGCAGG/TGTCCC 1 -- ut31 ese30--------
rs361163291,2
C,F102814342(-) CATTGC/TGGGCA 1 R/H mis15Minor allele frequency- T:0.00NA EU EA WA 498
rs8070381,2
A,C,F,H102813414(-) GAGCCG/CGGGCT 1 -- int14Minor allele frequency- C:0.25EU EA WA 412
rs111908101,2
A,C102811911(+) CCCCCC/TAGTTC 1 -- int10--------
rs617310711,2
--102812550(+) CGGGCA/TGGGTG 1 R/W mis10--------
--
rs358378321,2
--102815330(+) TAATG-/GATGC 
 ACAGACA
ATGCA
1 -- ut310--------
--
rs718572661,2
--102812435(+) AGGCC-/ATCCCCAG 1 PS/P fra10--------
About this table

HapMap Linkage Disequilibrium images for KAZALD1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 609208

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/12 PubMed articles for KAZALD1 gene (see all 12 ):
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 81621 HGNC: 25460 AceView: KAZALD1 Ensembl:ENSG00000107821 euGenes: HUgn81621
ECgene: KAZALD1 H-InvDB: KAZALD1
(According to HUGE)
About This Section

  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

  --
(Available from WIS Yeda, Salk, Tufts)
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  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for KAZALD1:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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 Predesigned and custom siRNAs for KAZALD1 Antibodies for KAZALD1
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 Lentivirus-delivered shRNAs for KAZALD1 Browse small molecules at Sigma-Aldrich
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