Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KAZALD1 Gene

Aliases for KAZALD1 Gene

  • Kazal Type Serine Peptidase Inhibitor Domain 1 2 3 5
  • Novel Kazal-Type Serine Protease Inhibitor Domain And Immunoglobulin Domain Containing Protein 3
  • Kazal-Type Serine Protease Inhibitor Domain-Containing Protein 1 3
  • Kazal-Type Serine Peptidase Inhibitor Domain 1 2
  • Kazal-Type Serine Protease Inhibitor Domain 1 2
  • Bone- And Odontoblast-Expressed Gene 1 3
  • IGFBP-Related Protein 10 3
  • IGFBP-RP10 3
  • FKSG28 3
  • FKSG40 3
  • BONO1 3

External Ids for KAZALD1 Gene

Previous GeneCards Identifiers for KAZALD1 Gene

  • GC10P102487
  • GC10P102810
  • GC10P096450

Summaries for KAZALD1 Gene

Entrez Gene Summary for KAZALD1 Gene

  • This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. The protein contains an insulin growth factor-binding domain in its N-terminal region, a Kazal-type serine protease inhibitor and follistatin-like domain in its central region, and an immunoglobulin-like domain in its C-terminal region. Studies of the mouse ortholog suggest that this protein may function in bone development and bone regeneration. This gene is hypomethylated and over-expressed in high-grade glioma compared to low-grade glioma, and thus the hypomethylated gene may be associated with cell proliferation and the shorter survival of patients with high-grade glioma. It is also one of numerous genes found to be deleted in a novel 5.54 Mb interstitial deletion, which is associated with multiple congenital anomalies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

GeneCards Summary for KAZALD1 Gene

KAZALD1 (Kazal Type Serine Peptidase Inhibitor Domain 1) is a Protein Coding gene. Diseases associated with KAZALD1 include Lobar Holoprosencephaly and Pleural Cancer. Gene Ontology (GO) annotations related to this gene include insulin-like growth factor binding. An important paralog of this gene is IGFBP7.

UniProtKB/Swiss-Prot for KAZALD1 Gene

  • Involved in the proliferation of osteoblasts during bone formation and bone regeneration. Promotes matrix assembly (By similarity).

Gene Wiki entry for KAZALD1 Gene

Additional gene information for KAZALD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KAZALD1 Gene

Genomics for KAZALD1 Gene

GeneHancer (GH) Regulatory Elements for KAZALD1 Gene

Promoters and enhancers for KAZALD1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J101059 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +2.7 2701 8.7 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 SSRP1 KAZALD1 BTRC ENSG00000272572 KCNIP2-AS1 SFXN3 MRPL43 ENSG00000273162 GC10M101091
GH10J101030 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 13 -27.9 -27894 6.4 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 FOS PDZD7 MRPL43 TWNK KAZALD1 TLX1 TLX1NB SEMA4G ENSG00000236662 MIR608 CWF19L1
GH10J101095 Enhancer 0.8 ENCODE 7.5 +34.6 34598 0.3 HDGF PKNOX1 ARID4B BMI1 ZNF2 ZBTB40 RAD21 ELK1 ZNF143 EGR2 KAZALD1 GC10M101091 GC10M101114 TLX1NB
GH10J101071 Enhancer 1.2 Ensembl ENCODE dbSUPER 0.4 +10.6 10560 1.8 PKNOX1 IRF4 TCF12 ZNF766 EGR1 IKZF2 CREM EGR2 SMARCA5 ZBTB11 BLOC1S2 KAZALD1 GC10M101091
GH10J101070 Enhancer 0.7 ENCODE dbSUPER 0.4 +9.2 9218 0.2 ZFHX2 KLF1 EGR1 EGR2 MRPL43 KAZALD1 GC10M101091
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KAZALD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KAZALD1 gene promoter:
  • ARP-1
  • Pax-4a
  • Brachyury
  • MZF-1
  • Pax-5
  • CUTL1
  • NF-1/L
  • CREB
  • deltaCREB
  • AML1a

Genomic Locations for KAZALD1 Gene

Genomic Locations for KAZALD1 Gene
6,991 bases
Plus strand
6,890 bases
Plus strand

Genomic View for KAZALD1 Gene

Genes around KAZALD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KAZALD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KAZALD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KAZALD1 Gene

Proteins for KAZALD1 Gene

  • Protein details for KAZALD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Kazal-type serine protease inhibitor domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • D3DR74
    • Q6ZMB1
    • Q9BQ73

    Protein attributes for KAZALD1 Gene

    304 amino acids
    Molecular mass:
    32945 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for KAZALD1 Gene


neXtProt entry for KAZALD1 Gene

Post-translational modifications for KAZALD1 Gene

  • Glycosylation at isoforms=277, isoforms=183, and isoforms=2159

Other Protein References for KAZALD1 Gene

No data available for DME Specific Peptides for KAZALD1 Gene

Domains & Families for KAZALD1 Gene

Gene Families for KAZALD1 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for KAZALD1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KAZALD1: view

No data available for UniProtKB/Swiss-Prot for KAZALD1 Gene

Function for KAZALD1 Gene

Molecular function for KAZALD1 Gene

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

Phenotypes From GWAS Catalog for KAZALD1 Gene

Gene Ontology (GO) - Molecular Function for KAZALD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0005520 insulin-like growth factor binding IEA --
genes like me logo Genes that share ontologies with KAZALD1: view
genes like me logo Genes that share phenotypes with KAZALD1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KAZALD1

miRNA for KAZALD1 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KAZALD1 Gene

Localization for KAZALD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KAZALD1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KAZALD1 gene
Compartment Confidence
extracellular 4
plasma membrane 2

Gene Ontology (GO) - Cellular Components for KAZALD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005614 interstitial matrix IEA --
genes like me logo Genes that share ontologies with KAZALD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KAZALD1 Gene

Pathways & Interactions for KAZALD1 Gene

SuperPathways for KAZALD1 Gene

No Data Available

Interacting Proteins for KAZALD1 Gene

Gene Ontology (GO) - Biological Process for KAZALD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0001558 regulation of cell growth IEA --
GO:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation IEA --
GO:0030198 extracellular matrix organization IEA --
genes like me logo Genes that share ontologies with KAZALD1: view

No data available for Pathways by source and SIGNOR curated interactions for KAZALD1 Gene

Drugs & Compounds for KAZALD1 Gene

No Compound Related Data Available

Transcripts for KAZALD1 Gene

Unigene Clusters for KAZALD1 Gene

Kazal-type serine peptidase inhibitor domain 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KAZALD1 Gene

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: - -
SP6: -

Relevant External Links for KAZALD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KAZALD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KAZALD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KAZALD1 Gene

This gene is overexpressed in Spleen (x8.5).

Protein differential expression in normal tissues from HIPED for KAZALD1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KAZALD1 Gene

Protein tissue co-expression partners for KAZALD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of KAZALD1 Gene:


SOURCE GeneReport for Unigene cluster for KAZALD1 Gene:


Evidence on tissue expression from TISSUES for KAZALD1 Gene

  • Intestine(4.1)
  • Muscle(4.1)
genes like me logo Genes that share expression patterns with KAZALD1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KAZALD1 Gene

Orthologs for KAZALD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KAZALD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KAZALD1 34 33
  • 99.15 (n)
(Bos Taurus)
Mammalia KAZALD1 34 33
  • 90.51 (n)
(Canis familiaris)
Mammalia KAZALD1 34 33
  • 89.21 (n)
(Mus musculus)
Mammalia Kazald1 16 34 33
  • 85.45 (n)
(Rattus norvegicus)
Mammalia Kazald1 33
  • 85.21 (n)
(Monodelphis domestica)
Mammalia KAZALD1 34
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia KAZALD1 34
  • 64 (a)
(Gallus gallus)
Aves KAZALD1 34 33
  • 76.61 (n)
(Anolis carolinensis)
Reptilia KAZALD1 34
  • 63 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia kazald1 33
  • 66.8 (n)
Str.12245 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.19590 33
(Danio rerio)
Actinopterygii kazald3 34 33
  • 57.99 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
Species where no ortholog for KAZALD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KAZALD1 Gene

Gene Tree for KAZALD1 (if available)
Gene Tree for KAZALD1 (if available)
Evolutionary constrained regions (ECRs) for KAZALD1: view image

Paralogs for KAZALD1 Gene

Paralogs for KAZALD1 Gene

(1) SIMAP similar genes for KAZALD1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KAZALD1: view

Variants for KAZALD1 Gene

Sequence variations from dbSNP and Humsavar for KAZALD1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000096923 -- 101,060,152(+) C/A/G upstream_transcript_variant
rs1000408810 -- 101,060,525(+) A/G upstream_transcript_variant
rs1001109941 -- 101,064,838(+) C/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1001456143 -- 101,063,234(+) T/C genic_upstream_transcript_variant, intron_variant
rs1002115556 -- 101,063,639(+) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KAZALD1 Gene

Variant ID Type Subtype PubMed ID
nsv831965 CNV loss 17160897

Variation tolerance for KAZALD1 Gene

Residual Variation Intolerance Score: 70.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.15; 61.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KAZALD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KAZALD1 Gene

Disorders for KAZALD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KAZALD1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lobar holoprosencephaly
pleural cancer
  • neoplasm of pleura
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KAZALD1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KAZALD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KAZALD1 Gene

Publications for KAZALD1 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4 58
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
  5. Bono1: a gene associated with regions of deposition of bone and dentine. (PMID: 15261838) James MJ … Thesleff I (Gene expression patterns : GEP 2004) 3 22 58

Products for KAZALD1 Gene

Sources for KAZALD1 Gene

Loading form....