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Aliases for KAZALD1 Gene

Aliases for KAZALD1 Gene

  • Kazal-Type Serine Peptidase Inhibitor Domain 1 2 3
  • Kazal-Type Serine Protease Inhibitor Domain 1 2 3
  • Novel Kazal-Type Serine Protease Inhibitor Domain And Immunoglobulin Domain Containing Protein 3
  • Kazal-Type Serine Protease Inhibitor Domain-Containing Protein 1 3
  • 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. 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. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KAZALD1 Gene

Genomics for KAZALD1 Gene

Regulatory Elements for KAZALD1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KAZALD1 Gene

Start:
101,061,242 bp from pter
End:
101,068,131 bp from pter
Size:
6,890 bases
Orientation:
Plus strand

Genomic View for KAZALD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for KAZALD1 Gene at MOPED

Post-translational modifications for KAZALD1 Gene

  • Glycosylation at Asn159, Asn183, and Asn277

Other Protein References for KAZALD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KAZALD1 Gene

Domains for KAZALD1 Gene

Gene Families for KAZALD1 Gene

HGNC:
  • ISET :Immunoglobulin superfamily / I-set domain containing

Suggested Antigen Peptide Sequences for KAZALD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96I82

UniProtKB/Swiss-Prot:

KAZD1_HUMAN :
  • Q96I82
Domain:
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
  • Contains 1 IGFBP N-terminal domain.
  • Contains 1 Kazal-like domain.
genes like me logo Genes that share domains with KAZALD1: view

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:0005515 protein binding --
GO:0005520 insulin-like growth factor binding IEA --
genes like me logo Genes that share ontologies with KAZALD1: view

Phenotypes for KAZALD1 Gene

GenomeRNAi human phenotypes for KAZALD1:
genes like me logo Genes that share phenotypes with KAZALD1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KAZALD1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for KAZALD1 Gene COMPARTMENTS Subcellular localization image for KAZALD1 gene
Compartment Confidence
extracellular 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for KAZALD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region --
GO:0005614 interstitial matrix IEA --
GO:0031012 extracellular matrix --
genes like me logo Genes that share ontologies with KAZALD1: view

Pathways 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 organismal 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 for KAZALD1 Gene

Transcripts for KAZALD1 Gene

Unigene Clusters for KAZALD1 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KAZALD1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for KAZALD1

Flow Cytometry 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 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 (8.5).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for KAZALD1 Gene

SOURCE GeneReport for Unigene cluster for KAZALD1 Gene Hs.632079

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

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 99.15 (n)
  • 98.19 (a)
KAZALD1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KAZALD1 35
  • 90.51 (n)
  • 93.59 (a)
KAZALD1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KAZALD1 35
  • 89.21 (n)
  • 92 (a)
KAZALD1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kazald1 35
  • 85.45 (n)
  • 86.91 (a)
Kazald1 16
Kazald1 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KAZALD1 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KAZALD1 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kazald1 35
  • 85.21 (n)
  • 87.64 (a)
chicken
(Gallus gallus)
Aves KAZALD1 35
  • 76.61 (n)
  • 77.02 (a)
KAZALD1 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KAZALD1 36
  • 63 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19590 35
tropical clawed frog
(Silurana tropicalis)
Amphibia kazald1 35
  • 66.8 (n)
  • 71.6 (a)
Str.12245 35
zebrafish
(Danio rerio)
Actinopterygii kazald3 35
  • 57.99 (n)
  • 53.88 (a)
kazald3 36
  • 44 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToMany
Species with no ortholog for KAZALD1:
  • 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

Selected 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 MAF
rs701838 -- 101,062,067(-) TCCGA(A/T)AGAAA utr-variant-5-prime, nc-transcript-variant
rs807031 -- 101,067,157(-) CCTCC(C/G)TCCCC intron-variant
rs807036 -- 101,065,809(-) CCCCA(A/G)TGGAG downstream-variant-500B, intron-variant, nc-transcript-variant
rs807037 - 101,064,592(-) TGCGG(C/G)CAAGG missense, reference, utr-variant-3-prime, nc-transcript-variant
rs807038 -- 101,063,667(-) GAGCC(C/G)GGGCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831965 CNV Loss 17160897
nsv895963 CNV Loss 21882294

Relevant External Links for KAZALD1 Gene

HapMap Linkage Disequilibrium report
KAZALD1

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

Disorders for KAZALD1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for KAZALD1 Gene including...

Search for KAZALD1 Gene in MalaCards »

(2) University of Copenhagen DISEASES for KAZALD1 Gene

Relevant External Links for KAZALD1

Genetic Association Database (GAD)
KAZALD1
Human Genome Epidemiology (HuGE) Navigator
KAZALD1
genes like me logo Genes that share disorders with KAZALD1: view

No data available for UniProtKB/Swiss-Prot 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4
  4. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z. … Henzel W.J. (Protein Sci. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for KAZALD1 Gene

Sources for KAZALD1 Gene

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