KLK9 kallikrein related peptidase 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLK9provided by HGNC
Official Full Name: kallikrein related peptidase 9provided by HGNC
Primary source: HGNC:HGNC:6370
See related: Ensembl:ENSG00000213022 MIM:605504; AllianceGenome:HGNC:6370
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: KLKL3; KLK-L3
Summary: The protein encoded by this gene is a kallikrein-related serine protease. This gene is activated by steroid hormones in a human breast cancer cell line, making it a good marker for cancer detection. The encoded protein is found primarily in the cytoplasm.[provided by RefSeq, Oct 2010]
Annotation information: Note: The KLK9 gene is immediately upstream of the KLK8 gene. There are a few transcripts (DQ267419, DQ267420, AY566267, and BC040887) that span the gap between these two genes and which suggest the presence of a bicistronic transcript. However, there is no published support for that, so they will continue to be represented as separate genes. [13 Feb 2013]
Expression: Restricted expression toward skin (RPKM 5.2) See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.41

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (51002508..51009592, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (54090979..54098065, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (51505764..51512848, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pronounced correlations between KLK10/KLK11 (rs = 0.647) and between KLK9/KLK15 (rs = 0.716) mRNA, but not between other combinations, indicate coordinate expression of distinct pairs of peptidases
Title: Clinical relevance of kallikrein-related peptidase 9, 10, 11, and 15 mRNA expression in advanced high-grade serous ovarian cancer.
Data suggest that mature KLK9 (kallikrein 9) is a glycosylated chymotrypsin-like enzyme with strong preference for tyrosine over phenylalanine at P1 cleavage position; substrate specificity of KLK9 appears to extend to KLK10 and midkine; enzyme activity is enhanced by Mg2+ and Ca2+, but is reversibly attenuated by Zn2+; KLK9 is inhibited in vitro by many naturally occurring or synthetic protease inhibitors.
Title: Biochemical and functional characterization of the human tissue kallikrein 9.
Data demonstrate that elevated levels of KLK6, KLK7 and KLK9 proteins are associated with poor glioblastoma patients survival.
Title: Prognostic significance of multiple kallikreins in high-grade astrocytoma.
the serum level has the potential to be used as a biomarker for asthma
Title: Human tissue kallikrein 9 in asthmatic patients.
Observational study of gene-disease association. (HuGE Navigator)
Title: Blood biomarker levels to aid discovery of cancer-related single-nucleotide polymorphisms: kallikreins and prostate cancer.

Submit: New GeneRIF Correction

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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Markers

NoName (e-PCR)
- UniSTS:495177

NoName (e-PCR)
- UniSTS:483955

KLK9_3646 (e-PCR)
- UniSTS:462303

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in protein maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

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

General protein information

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Preferred Names: kallikrein-9

Names: kallikrein-like protein 3

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.

Genomic

NG_027832.1 RefSeqGene

Range

5043..12127

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_012315.2 → NP_036447.1 kallikrein-9 precursor

See identical proteins and their annotated locations for NP_036447.1

Status: REVIEWED

Source sequence(s)

AC011473

Consensus CDS

CCDS12816.1

UniProtKB/Swiss-Prot

Q6QA55, Q9UKQ9

UniProtKB/TrEMBL

A0A1R3UF82, Q2XQG6

Related

ENSP00000469417.1, ENST00000594211.2

Conserved Domains (1) summary

cd00190
Location:24 → 247

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...