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 Retinitis Pigmentosa 10. 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

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

Genomics for KAZALD1 Gene

Regulatory Elements for KAZALD1 Gene

Enhancers for KAZALD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G101030 1.6 FANTOM5 ENCODE dbSUPER 13 -27.9 -27894 6.4 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 FEZF1 ZNF2 ZNF143 FOS PDZD7 KAZALD1 TLX1 TLX1NB SEMA4G TWNK MRPL43 ENSG00000236662 MIR608 SFXN3
GH10G101095 0.9 ENCODE 7.5 +34.6 34598 0.3 HDGF PKNOX1 FOXA2 ARID4B BMI1 ZNF2 ZBTB40 RAD21 ZEB1 ZNF335 KAZALD1 GC10M101091 GC10M101114
GH10G101059 1.4 ENCODE dbSUPER 0.7 +2.7 2658 8.6 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 SLC30A9 ZNF143 ZNF263 SP3 ENSG00000272572 ENSG00000273030 SFXN3 MRPL43 KAZALD1 GC10M101091
GH10G101071 1.4 Ensembl ENCODE dbSUPER 0.4 +10.6 10561 1.8 ELF3 PKNOX1 TBL1XR1 ZNF48 RAD21 YY1 RARA TCF12 ZNF766 GATA2 BLOC1S2 KAZALD1 GC10M101091
GH10G101070 0.8 ENCODE dbSUPER 0.4 +9.2 9218 0.2 ZFHX2 KLF1 EGR1 EGR2 MRPL43 KAZALD1 GC10M101091
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KAZALD1 on UCSC Golden Path with GeneCards custom track

Promoters for KAZALD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000032576 -241 1801 HDGF HNRNPUL1 CREB3L1 AGO1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for KAZALD1 Gene

Chromosome:
10
Start:
101,061,141 bp from pter
End:
101,068,131 bp from pter
Size:
6,991 bases
Orientation:
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:
    Q96I82-KAZD1_HUMAN
    Recommended name:
    Kazal-type serine protease inhibitor domain-containing protein 1
    Protein Accession:
    Q96I82
    Secondary Accessions:
    • D3DR74
    • Q6ZMB1
    • Q9BQ73

    Protein attributes for KAZALD1 Gene

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

    Alternative splice isoforms for KAZALD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KAZALD1 Gene

Post-translational modifications for KAZALD1 Gene

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

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

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).

Gene Ontology (GO) - Molecular Function for KAZALD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

CRISPR Products

miRNA for KAZALD1 Gene

Inhibitory RNA Products

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

COMPARTMENTS
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:0005578 proteinaceous extracellular matrix IEA --
GO:0005614 interstitial matrix IEA --
genes like me logo Genes that share ontologies with KAZALD1: view

Pathways & Interactions for KAZALD1 Gene

SuperPathways for KAZALD1 Gene

No Data Available

Interacting Proteins for KAZALD1 Gene

Selected Interacting proteins: Q96I82-KAZD1_HUMAN for KAZALD1 Gene via IID

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:

CRISPR Products

Inhibitory RNA Products

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: -
SP7:

Relevant External Links for KAZALD1 Gene

GeneLoc Exon Structure for
KAZALD1
ECgene alternative splicing isoforms for
KAZALD1

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:

KAZALD1

SOURCE GeneReport for Unigene cluster for KAZALD1 Gene:

Hs.632079

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia KAZALD1 34 35
  • 99.15 (n)
cow
(Bos Taurus)
Mammalia KAZALD1 34 35
  • 90.51 (n)
dog
(Canis familiaris)
Mammalia KAZALD1 34 35
  • 89.21 (n)
mouse
(Mus musculus)
Mammalia Kazald1 16 35 34
  • 85.45 (n)
rat
(Rattus norvegicus)
Mammalia Kazald1 34
  • 85.21 (n)
oppossum
(Monodelphis domestica)
Mammalia KAZALD1 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KAZALD1 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves KAZALD1 34 35
  • 76.61 (n)
lizard
(Anolis carolinensis)
Reptilia KAZALD1 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kazald1 34
  • 66.8 (n)
Str.12245 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.19590 34
zebrafish
(Danio rerio)
Actinopterygii kazald3 34 35
  • 57.99 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToMany
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

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

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 Sequence Context AA Info Type
rs1000096923 -- 101,060,152(+) ACAAG(A/C/G)CCACC nc-transcript-variant, upstream-variant-2KB
rs1000408810 -- 101,060,525(+) CCCCA(A/G)GGTGT nc-transcript-variant, upstream-variant-2KB
rs1001109941 -- 101,064,838(+) GAACT(C/T)TACAG nc-transcript-variant, downstream-variant-500B, upstream-variant-2KB, reference, missense
rs1001456143 -- 101,063,234(+) CAGTA(C/T)AAAAC intron-variant
rs1002115556 -- 101,063,639(+) TGGTA(A/G)CTTTA 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)

Relevant External Links for KAZALD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KAZALD1

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
retinitis pigmentosa 10
  • rp10
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KAZALD1

Genetic Association Database (GAD)
KAZALD1
Human Genome Epidemiology (HuGE) Navigator
KAZALD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KAZALD1
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 H.F. … Gray A.M. (Genome Res. 2003) 2 3 4 64
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64
  5. Bono1: a gene associated with regions of deposition of bone and dentine. (PMID: 15261838) James M.J. … Thesleff I. (Gene Expr. Patterns 2004) 3 22 64

Products for KAZALD1 Gene

Sources for KAZALD1 Gene

Content
Loading form....