SERPINA5 serpin family A member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SERPINA5provided by HGNC
Official Full Name: serpin family A member 5provided by HGNC
Primary source: HGNC:HGNC:8723
See related: Ensembl:ENSG00000188488 MIM:601841; AllianceGenome:HGNC:8723
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: PCI; PAI3; PAI-3; PCI-B; PROCI; PLANH3
Summary: The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012]
Expression: Biased expression in testis (RPKM 322.5), adrenal (RPKM 213.7) and 6 other tissues See more
Orthologs: all
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Genomic context

Location:: 14q32.13

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (94581426..94593118)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (88811397..88823118)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (95047763..95059455)

Chromosome 14 - NC_000014.9 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: 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?

The SERPINA5 coding variant E228Q does not contribute to clinicopathologic characteristics in Alzheimer's disease: A cross-sectional study.
Title: The SERPINA5 coding variant E228Q does not contribute to clinicopathologic characteristics in Alzheimer's disease: A cross-sectional study.
SERPINA5 may promote the development of preeclampsia by disruption of the uPA/uPAR pathway.
Title: SERPINA5 may promote the development of preeclampsia by disruption of the uPA/uPAR pathway.
ANXA2, SP17, SERPINA5, PRDX2 genes, and sperm DNA fragmentation differentially represented in male partners of infertile couples with normal and abnormal sperm parameters.
Title: ANXA2, SP17, SERPINA5, PRDX2 genes, and sperm DNA fragmentation differentially represented in male partners of infertile couples with normal and abnormal sperm parameters.
SERPINA5 promotes tumour cell proliferation by modulating the PI3K/AKT/mTOR signalling pathway in gastric cancer.
Title: SERPINA5 promotes tumour cell proliferation by modulating the PI3K/AKT/mTOR signalling pathway in gastric cancer.
Proteomic analysis of human articular cartilage unravels the dyscoagulation in osteoarthritis and the potential value of serpinA5 as a biomarker for osteoarthritis.
Title: Proteomic analysis of human articular cartilage unravels the dyscoagulation in osteoarthritis and the potential value of serpinA5 as a biomarker for osteoarthritis.
Evaluation the Presence of SERPINA5 (Exon 3) and FTO rs9939609 Polymorphisms in Papillary Thyroid Cancer Patients.
Title: Evaluation the Presence of SERPINA5 (Exon 3) and FTO rs9939609 Polymorphisms in Papillary Thyroid Cancer Patients.
SERPIN A5 may have a potential as a biomarker in reflecting the improvement of semen quality in infertile men who underwent varicocele repair.
Title: SERPIN A5 may have a potential as a biomarker in reflecting the improvement of semen quality in infertile men who underwent varicocele repair.
Genetic association in female stress urinary incontinence based on proteomic findings: a case-control study.
Title: Genetic association in female stress urinary incontinence based on proteomic findings: a case-control study.
data suggests that SPA17, ANXA2, and SERPINA5 may potentially serve as non-invasive protein biomarkers associated with the fertilization process of the spermatozoa in unexplained male infertility
Title: Sperm Proteome Analysis and Identification of Fertility-Associated Biomarkers in Unexplained Male Infertility.
the snp rs1955656 in the SERPINA5 were associated with the development of severe acute kidney injury (KDIGO stage 2-3) in critically ill patients with septic shock
Title: Genetic variants in SERPINA4 and SERPINA5, but not BCL2 and SIK3 are associated with acute kidney injury in critically ill patients with septic shock.

Submit: New GeneRIF Correction See all GeneRIFs (38)

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

SHGC-12750 (e-PCR)
- UniSTS:72969

GDB:212834 (e-PCR)
- UniSTS:156175

STS-R07994 (e-PCR)
- UniSTS:83266

GDB:217872 (e-PCR)
- UniSTS:156232

RH68959 (e-PCR)
- UniSTS:18275

RH65034 (e-PCR)
- UniSTS:43131

D14S1340 (e-PCR)
- UniSTS:21639

RH70612 (e-PCR)
- UniSTS:64658

G60289 (e-PCR)
- UniSTS:137394

SERPINA5_1304 (e-PCR)
- UniSTS:277705

SERPINA5_v402 (e-PCR)
- UniSTS:277705

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acrosin binding	IPI Inferred from Physical Interaction more info	PubMed
enables glycosaminoglycan binding	TAS Traceable Author Statement more info	PubMed
enables heparin binding	TAS Traceable Author Statement more info	PubMed
enables phosphatidylcholine binding	IDA Inferred from Direct Assay more info	PubMed
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables retinoic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables serine-type endopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in fusion of sperm to egg plasma membrane involved in single fertilization	NAS Non-traceable Author Statement more info	PubMed
involved_in lipid transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of hydrolase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in acrosomal membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in platelet alpha granule	IDA Inferred from Direct Assay more info	PubMed
located_in platelet dense tubular network	IDA Inferred from Direct Assay more info	PubMed
part_of protein C inhibitor-KLK3 complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein C inhibitor-PLAT complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein C inhibitor-PLAU complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein C inhibitor-TMPRSS11E complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein C inhibitor-TMPRSS7 complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein C inhibitor-coagulation factor V complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein C inhibitor-coagulation factor XI complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein C inhibitor-coagulation factor Xa complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein C inhibitor-plasma kallikrein complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein C inhibitor-thrombin complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: plasma serine protease inhibitor

Names: acrosomal serine protease inhibitor; plasminogen activator inhibitor III; plasminogen activator inhibitor-3; protein C inhibitor; serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5

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_032908.2 RefSeqGene

Range

24985..36677

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_644

mRNA and Protein(s)

NM_000624.6 → NP_000615.3 plasma serine protease inhibitor preproprotein

See identical proteins and their annotated locations for NP_000615.3

Status: REVIEWED

Source sequence(s)

AI114432, AK293192, BC008915, DC394575, HY003178

Consensus CDS

CCDS9928.1

UniProtKB/Swiss-Prot

P05154, Q07616, Q9UG30

UniProtKB/TrEMBL

B3KTV6

Related

ENSP00000333203.7, ENST00000329597.12

Conserved Domains (1) summary

cd02056
Location:44 → 403

alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...