KAZALD1 - Kazal type serine peptidase inhibitor domain 1 Gene

Homo sapiens

Also known as BONO1; FKSG28; FKSG40; IGFBP-rP10

Gene ID: 81621 | Gene type: protein coding

About KAZALD1

Cytogenetic location: 10q24.31 Genomic coordinates (GRCh38): 10:101,061,989-101,068,131 (from NCBI)

This gene has 6 transcripts (splice variants), 191 orthologues and 2 paralogues. Broad expression in spleen (RPKM 7.9), stomach (RPKM 5.2) and 17 other tissues.

Summary

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]

KAZALD1 Products(2)

mRNA	Protein	Name
NM_001319303.2	NP_001306232.1	kazal-type serine protease inhibitor domain-containing protein 1 isoform b
NM_030929.5	NP_112191.2	kazal-type serine protease inhibitor domain-containing protein 1 isoform a precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KAZALD1 Protein Structure

IGFBP

Kazal_1

I-set

0
100
200
304 a.a.

Protein Preferred Names

Protein Names

kazal-type serine protease inhibitor domain-containing protein 1

IGFBP-related protein 10

Related Diseases

Diseases

Alias

Low Grade Glioma

Benign Glioma

Oculomotor Nerve Paralysis

Iii Nerve Palsy	Iiird Nerve Paralysis
Third Cranial Nerve Paralysis

Epiphyseal Dysplasia, Multiple, 5

EDM5	Multiple Epiphyseal Dysplasia 5
Bhmed	Multiple Epiphyseal Dysplasia Type 5
Multiple Epiphyseal Dysplasia, Matn3-Related	Microepiphyseal Dysplasia, Bilateral Hereditary
Bilateral Hereditary Microepiphyseal Dysplasia	Multiple Epiphyseal Dysplasia Matn3-Related
Epiphyseal Dysplasia Multiple 5	Multiple Epiphyseal Dysplasia, Matn3 Related
Bilateral Hereditary Micro-Epiphyseal Dysplasia	Med5
Polyepiphyseal Dysplasia Type 5	Dysplasia, Epiphyseal, Multiple, Type 5

Third Cranial Nerve Disease

Disorder Of Oculomotor Nerve	Oculomotor Nerve Disorder
Oculomotor Nerve Paralysis	Third Cranial Nerve Disorder

Holoprosencephaly

Holoprosencephaly Sequence	Hpe
Hpe - [Holoprosencephaly]

High Grade Glioma

Malignant Glioma	Glial Cell Tumor
Glioma, Malignant	Malignant Neuroglial Tumor
Neuroglial Tumor	Glioma
Malignant Gliomas

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07089	KAZALD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KAZALD1	RGD	RGD:1310698
Canis familiaris	KAZALD1	VGNC	VGNC:42220
Bos taurus	KAZALD1	VGNC	VGNC:30410
Mus musculus	KAZALD1	MGD	MGI:2147606
Macaca mulatta	KAZALD1	VGNC	VGNC:73906

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