Male Infertility Database

Search Result

Gene id

354

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

KLK3 Gene UCSC Ensembl

Aliases

APS, KLK2A1, PSA, hK3

Gene name

kallikrein related peptidase 3

Alternate names

prostate-specific antigen, P-30 antigen, gamma-seminoprotein, kallikrein-3, semenogelase, seminin,

Gene location

19q13.33 (50854914: 50860763) Exons: 5 NC_000019.10

Gene summary(Entrez)

Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one

OMIM

176820

SNPs

rs387907021

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.73689432A>G
NC_000014.8   g.74156135A>G
NG_028083.2   g.49558A>G
NG_028083.1   g.49558A>G
NM_031427.4   c.449A>G
NM_031427.3   c.449A>G
NM_001201366.1   c.332A>G
NM_001201366.2   c.332A>G
XM_017021679.2   c.332A>G
XM_024449715.1   c.332A>G
NP_113615.2   p.

rs61752561

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.50858126G>A
NC_000019.9   g.51361382G>A
NG_011653.1   g.8212G>A
NM_001648.2   c.304G>A
NM_001030047.1   c.304G>A
NP_001639.1   p.Asp102Asn
NP_001025218.1   p.Asp102Asn|SEQ=[G/A]|GENE=KLK3

rs61736309

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.50860022G>A
NC_000019.10   g.50860022G>T
NC_000019.9   g.51363278G>A
NC_000019.9   g.51363278G>T
NG_011653.1   g.10108G>A
NG_011653.1   g.10108G>T
NM_001648.2   c.681G>A
NM_001648.2   c.681G>T
NM_001030047.1   c.*406G>A
NM_001030047.1   c.*406G>T
NM_001

rs45588133

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.50859699G>A
NC_000019.9   g.51362955G>A
NG_011653.1   g.9785G>A
NM_001030047.1   c.*83G>A|SEQ=[G/A]|GENE=KLK3

rs35192866

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.50859547C>T
NC_000019.9   g.51362803C>T
NG_011653.1   g.9633C>T
NM_001030047.1   c.648C>T|SEQ=[C/T]|GENE=KLK3

rs17632542

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.50858501T>C
NC_000019.9   g.51361757T>C
NG_011653.1   g.8587T>C
NM_001648.2   c.536T>C
NM_001030047.1   c.536T>C
NM_001030048.1   c.407T>C
NP_001639.1   p.Ile179Thr
NP_001025218.1   p.Ile179Thr
NP_001025219.1   p.Ile136Thr|SEQ=[T/C]|GENE=KLK3

rs2053087

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.50856460G>A
NC_000019.9   g.51359716G>A
NG_011653.1   g.6546G>A|SEQ=[G/A]|GENE=KLK3

rs2003783

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.50858216C>A
NC_000019.10   g.50858216C>T
NC_000019.9   g.51361472C>A
NC_000019.9   g.51361472C>T
NG_011653.1   g.8302C>A
NG_011653.1   g.8302C>T
NM_001648.2   c.394C>A
NM_001648.2   c.394C>T
NM_001030047.1   c.394C>A
NM_001030047.1   c.394C>T
NM_0010300

rs1810020

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.50858388A>G
NC_000019.10   g.50858388A>T
NC_000019.9   g.51361644A>G
NC_000019.9   g.51361644A>T
NG_011653.1   g.8474A>G
NG_011653.1   g.8474A>T|SEQ=[A/G/T]|GENE=KLK3

rs266881

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.50855077C>A
NC_000019.10   g.50855077C>G
NC_000019.9   g.51358333C>A
NC_000019.9   g.51358333C>G
NG_011653.1   g.5163C>A
NG_011653.1   g.5163C>G|SEQ=[C/A/G]|GENE=KLK3

rs266875

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.50858681G>A
NC_000019.10   g.50858681G>C
NC_000019.9   g.51361937G>A
NC_000019.9   g.51361937G>C
NG_011653.1   g.8767G>A
NG_011653.1   g.8767G>C|SEQ=[G/A/C]|GENE=KLK3

rs174776

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.50856596T>C
NC_000019.9   g.51359852T>C
NG_011653.1   g.6682T>C|SEQ=[T/C]|GENE=KLK3

rs11573

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.50856241T>C
NC_000019.9   g.51359497T>C
NG_011653.1   g.6327T>C
NM_001648.2   c.48T>C
NM_001030047.1   c.48T>C
NM_001030048.1   c.48T>C|SEQ=[T/C]|GENE=KLK3

rs6998

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.50860405G>A
NC_000019.9   g.51363661G>A
NG_011653.1   g.10491G>A
NM_001648.2   c.*278G>A
NM_001030047.1   c.*789G>A
NM_001030048.1   c.*278G>A|SEQ=[G/A]|GENE=KLK3

Protein Summary

Protein general information

P07288

Name: Prostate specific antigen (PSA) (EC 3.4.21.77) (Gamma seminoprotein) (Seminin) (Kallikrein 3) (P 30 antigen) (Semenogelase)

Length: 261 Mass: 28,741

Sequence

MWVPVVFLTLSVTWIGAAPLILSRIVGGWECEKHSQPWQVLVASRGRAVCGGVLVHPQWVLTAAHCIRNKSVILL
GRHSLFHPEDTGQVFQVSHSFPHPLYDMSLLKNRFLRPGDDSSHDLMLLRLSEPAELTDAVKVMDLPTQEPALGT
TCYASGWGSIEPEEFLTPKKLQCVDLHVISNDVCAQVHPQKVTKFMLCAGRWTGGKSTCSGDSGGPLVCNGVLQG
ITSWGSEPCALPERPSLYTKVVHYRKWIKDTIVANP

Structural information

Protein Domains	Peptidase (25-258)
Interpro:	IPR009003 IPR001314 IPR001254 IPR018114 IPR033116
Prosite:	PS50240 PS00134 PS00135
CDD:	cd00190
PDB:	1PFA 2PSA 2ZCH 2ZCK 2ZCL 3QUM
PDBsum:	1PFA 2PSA 2ZCH 2ZCK 2ZCL 3QUM
STRING:	ENSP00000314151

Other Databases

GeneCards: KLK3 Malacards: KLK3

Gene ontology

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GO accession	Term name	Evidence code	Go category
GO:0002778	antibacterial peptide pro duction	IDA	biological process
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004252	serine-type endopeptidase activity	IMP	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0006508	proteolysis	IMP	biological process
GO:0008236	serine-type peptidase act ivity	TAS	molecular function
GO:0016525	negative regulation of an giogenesis	NAS	biological process
GO:0016811	hydrolase activity, actin g on carbon-nitrogen (but not peptide) bonds, in l inear amides	IMP	molecular function
GO:0043234	protein complex	IDA	cellular component
GO:0044267	cellular protein metaboli c process	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0002778	antibacterial peptide pro duction	IDA	biological process
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0004252	serine-type endopeptidase activity	IMP	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IMP	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008236	serine-type peptidase act ivity	IEA	molecular function
GO:0008236	serine-type peptidase act ivity	TAS	molecular function
GO:0016525	negative regulation of an giogenesis	NAS	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016811	hydrolase activity, actin g on carbon-nitrogen (but not peptide) bonds, in l inear amides	IMP	molecular function
GO:0043234	protein complex	IDA	cellular component
GO:0044267	cellular protein metaboli c process	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0002778	antibacterial peptide pro duction	IDA	biological process
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0004252	serine-type endopeptidase activity	IMP	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0006508	proteolysis	IMP	biological process
GO:0008236	serine-type peptidase act ivity	TAS	molecular function
GO:0016525	negative regulation of an giogenesis	NAS	biological process
GO:0016811	hydrolase activity, actin g on carbon-nitrogen (but not peptide) bonds, in l inear amides	IMP	molecular function
GO:0043234	protein complex	IDA	cellular component
GO:0044267	cellular protein metaboli c process	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

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Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05215	Prostate cancer

Diseases

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Associated diseases	References
Cancer	GAD: 11299734
Cancer (prostate)	GAD: 14693733
Cancer (breast)	GAD: 16365023
Hyperandrogenism	INFBASE: 11297583
Female infertility	INFBASE: 24280142
Premature ovarian failure (POF)	INFBASE: 24103315
Polycystic ovary syndrome (PCOS)	INFBASE: 16699296
Oligoasthenozoospermia	MIK: 8867597
Azoospermia	MIK: 22182811
Oligozoospermia	MIK: 22182811
Male factor infertility	MIK: 1897760
Oligozoospermia	MIK: 22182811
Azoospermia	MIK: 22182811
Endometriosis	INFBASE: 25134292
Azoospermia	MIK: 22182811
Oligospermia	MIK: 22182811
Male infertility	MIK: 1897760
Oligoasthenozoospermia	MIK: 8867597
Teratozoospermia	MIK: 17327269

PubMed references

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PMID	Condition	Population details	Infertility_type	Associated_genes	Abstract
22182811	Azoospermi a, Oligosp ermia		Male infertility	Lactoferrin Prostatic acid phosphatase Human Zinc-Alpha-2-Glycoprotein Prostate specific antigen Progestagen-associated endometrial protein Kinesin light chain 4 Kinesin light chain 4 Prolactin inducible protein Izumo sperm-egg fusion protein 1	Show abstract
8867597	Oligo-asth enozoosper mia	62 (35 normozoo spermic men, 27 asthenozoosper mic men, oligoz oospermic)	Male infertility	PSA PAP Zn alpha 2-glycoprotein (Zn alpha 2-GP) beta-microseminoprotein (beta-MSP)	Show abstract
1897760	Male infer tility	62 (14 normozoo spermia, 17 ast henozoospermia, 18 OAT-syndrom e, 13 azoosperm ia)	Male infertility	G-SM	Show abstract
17327269	Teratozoos permia	13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

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Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways Expand All | Collapse All

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Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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