KAZALD1 Kazal type serine peptidase inhibitor domain 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KAZALD1provided by HGNC
Official Full Name: Kazal type serine peptidase inhibitor domain 1provided by HGNC
Primary source: HGNC:HGNC:25460
See related: Ensembl:ENSG00000107821 MIM:609208; AllianceGenome:HGNC:25460
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BONO1; FKSG28; FKSG40; IGFBP-rP10
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]
Expression: Broad expression in spleen (RPKM 7.9), stomach (RPKM 5.2) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q24.31

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (101061989..101068131)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (101945371..101951514)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (102821746..102827888)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KAZALD1 hypomethylation indicates bad prognosis in small bowel adenocarcinoma
Title: Comprehensive molecular pathology analysis of small bowel adenocarcinoma reveals novel targets with potential for clinical utility.
KAZALD1 promotes glioma malignant progression through invasion and proliferation
Title: Epigenetic silencing of KAZALD1 confers a better prognosis and is associated with malignant transformation/progression in glioma.
KAZALD1 gene was hypermethylated in sarcomatoid-type malignant peritoneal mesothelioma.
Title: Characterization of DNA hypermethylation in two cases of peritoneal mesothelioma.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
This paper suggests that the mouse ortholog of this human gene plays a role in bone formation and regeneration.
Title: Role of a new member of IGFBP superfamily, IGFBP-rP10, in proliferation and differentiation of osteoblastic cells.
This paper describes the identification and expression pattern of the mouse ortholog of the human gene.
Title: Bono1: a gene associated with regions of deposition of bone and dentine.
Expression of Bono1 was detected in osteoblasts and secretory odontoblasts by in situ hybridization.
Title: Bono1: a gene associated with regions of deposition of bone and dentine.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables insulin-like growth factor binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	IEA Inferred from Electronic Annotation more info
involved_in ossification	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell growth	IEA Inferred from Electronic Annotation more info
involved_in regulation of signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in interstitial matrix	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: kazal-type serine protease inhibitor domain-containing protein 1

Names: IGFBP-related protein 10; bone- and odontoblast-expressed gene 1; novel kazal-type serine protease inhibitor domain and immunoglobulin domain containing protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001319303.2 → NP_001306232.1 kazal-type serine protease inhibitor domain-containing protein 1 isoform b

Status: REVIEWED

Source sequence(s)

AL133215

UniProtKB/Swiss-Prot

Q96I82

Conserved Domains (2) summary

smart00408
Location:48 → 122

IGc2; Immunoglobulin C-2 Type

pfam07679
Location:34 → 132

I-set; Immunoglobulin I-set domain
NM_030929.5 → NP_112191.2 kazal-type serine protease inhibitor domain-containing protein 1 isoform a precursor

See identical proteins and their annotated locations for NP_112191.2

Status: REVIEWED

Source sequence(s)

AL133215

Consensus CDS

CCDS7509.1

UniProtKB/Swiss-Prot

D3DR74, Q6ZMB1, Q96I82, Q9BQ73

Related

ENSP00000359219.6, ENST00000370200.6

Conserved Domains (3) summary

cd00104
Location:129 → 168

KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...

pfam07679
Location:172 → 270

I-set; Immunoglobulin I-set domain

pfam00219
Location:54 → 108

IGFBP; Insulin-like growth factor binding protein

RNA

NR_135067.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL133215
NR_135068.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL133215

Related

ENST00000465807.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

101061989..101068131

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024448213.2 → XP_024303981.1 kazal-type serine protease inhibitor domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

D3DR74, Q6ZMB1, Q96I82, Q9BQ73

Conserved Domains (3) summary

cd00104
Location:129 → 168

KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...

pfam07679
Location:172 → 270

I-set; Immunoglobulin I-set domain

pfam00219
Location:54 → 108

IGFBP; Insulin-like growth factor binding protein
XM_017016715.3 → XP_016872204.1 kazal-type serine protease inhibitor domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

D3DR74, Q6ZMB1, Q96I82, Q9BQ73

Conserved Domains (3) summary

cd00104
Location:129 → 168

KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...

pfam07679
Location:172 → 270

I-set; Immunoglobulin I-set domain

pfam00219
Location:54 → 108

IGFBP; Insulin-like growth factor binding protein
XM_005270194.5 → XP_005270251.1 kazal-type serine protease inhibitor domain-containing protein 1 isoform X2

Conserved Domains (3) summary

cd00104
Location:129 → 168

KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...

pfam00219
Location:54 → 108

IGFBP; Insulin-like growth factor binding protein

cl11960
Location:176 → 218

Ig; Immunoglobulin domain

RNA

XR_246107.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

101945371..101951514

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054366841.1 → XP_054222816.1 kazal-type serine protease inhibitor domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

D3DR74, Q6ZMB1, Q96I82, Q9BQ73
XM_054366842.1 → XP_054222817.1 kazal-type serine protease inhibitor domain-containing protein 1 isoform X1

UniProtKB/Swiss-Prot

D3DR74, Q6ZMB1, Q96I82, Q9BQ73
XM_054366843.1 → XP_054222818.1 kazal-type serine protease inhibitor domain-containing protein 1 isoform X2