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

Gene ID: 81621, updated on 1-Jun-2020

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
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

Genomic context

See KAZALD1 in Genome Data Viewer
Location:
10q24.31
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (101061085..101068131)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102820999..102827888)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene sideroflexin 3 Neighboring gene uncharacterized LOC107984262 Neighboring gene Sharpr-MPRA regulatory region 11881 Neighboring gene Sharpr-MPRA regulatory region 9711 Neighboring gene TLX1 neighbor Neighboring gene T cell leukemia homeobox 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

General gene information

Homology

Clone Names

  • FLJ24094

Gene Ontology Provided by GOA

Function Evidence Code Pubs
insulin-like growth factor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
ossification IEA
Inferred from Electronic Annotation
more info
 
regulation of cell growth IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
interstitial matrix IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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)

  1. NM_001319303.2NP_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:48122
    IGc2; Immunoglobulin C-2 Type
    pfam07679
    Location:34132
    I-set; Immunoglobulin I-set domain
  2. NM_030929.5NP_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
    Q96I82
    Related
    ENSP00000359219.5, ENST00000370200.5
    Conserved Domains (3) summary
    cd00104
    Location:129168
    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:172270
    I-set; Immunoglobulin I-set domain
    pfam00219
    Location:54108
    IGFBP; Insulin-like growth factor binding protein

RNA

  1. NR_135067.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL133215
  2. NR_135068.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL133215
    Related
    ENST00000465807.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    101061085..101068131
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (3) summary
    cd00104
    Location:129168
    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:172270
    I-set; Immunoglobulin I-set domain
    pfam00219
    Location:54108
    IGFBP; Insulin-like growth factor binding protein
  2. XM_017016715.2XP_016872204.1  kazal-type serine protease inhibitor domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q96I82
    Conserved Domains (3) summary
    cd00104
    Location:129168
    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:172270
    I-set; Immunoglobulin I-set domain
    pfam00219
    Location:54108
    IGFBP; Insulin-like growth factor binding protein
  3. XM_005270194.4XP_005270251.1  kazal-type serine protease inhibitor domain-containing protein 1 isoform X2

    Conserved Domains (3) summary
    cd00104
    Location:129168
    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:54108
    IGFBP; Insulin-like growth factor binding protein
    cl11960
    Location:176218
    Ig; Immunoglobulin domain

RNA

  1. XR_246107.3 RNA Sequence

  2. XR_001747217.1 RNA Sequence

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