KAZALD1

Protein identityUniProt · HPA

UniProt accession

Q96I82

Gene

KAZALD1

Ensembl

ENSG00000107821

Chromosome

10

Canonical length

304 aa

Protein class

Predicted secreted proteins

Secretome location

Secreted to extracellular matrix

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

304 residues, UniProt reviewed canonical sequence.

>Q96I82|KAZALD1
     1  MLPPPRPAAA LALPVLLLLL VVLTPPPTGA RPSPGPDYLR RGWMRLLAEG EGCAPCRPEE
    61  CAAPRGCLAG RVRDACGCCW ECANLEGQLC DLDPSAHFYG HCGEQLECRL DTGGDLSRGE
   121  VPEPLCACRS QSPLCGSDGH TYSQICRLQE AARARPDANL TVAHPGPCES GPQIVSHPYD
   181  TWNVTGQDVI FGCEVFAYPM ASIEWRKDGL DIQLPGDDPH ISVQFRGGPQ RFEVTGWLQI
   241  QAVRPSDEGT YRCLGRNALG QVEAPASLTV LTPDQLNSTG IPQLRSLNLV PEEEAESEEN
   301  DDYY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KAZALD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.42

Highest tissue expression

14 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.46

gnomAD pLI

0

gnomAD missense Z

0.12

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell differentiation
• extracellular matrix organization
• ossification
• regulation of cell growth
• regulation of signal transduction

Molecular functions

• insulin-like growth factor binding

Cellular components

• extracellular space
• interstitial matrix

Protein domainsUniProt · Pfam · InterPro

• Insulin-like growth factor-binding protein, IGFBP
• Kazal domain
• Immunoglobulin subtype 2
• Immunoglobulin domain subtype
• Immunoglobulin-like domain
• Growth factor receptor cysteine-rich domain superfamily
• Insulin-like growth factor binding protein-related protein (IGFBP-rP), MAC25
• Immunoglobulin I-set
• Immunoglobulin-like fold
• Kazal domain superfamily
• Immunoglobulin-like domain superfamily
• Insulin-like growth factor binding protein
• Kazal-type serine protease inhibitor domain
• Immunoglobulin I-set domain

KeywordsUniProt

• Developmental protein
• Differentiation
• Disulfide bond
• Extracellular matrix
• Glycoprotein
• Immunoglobulin domain
• Osteogenesis
• Secreted
• Signal