SERPINA10 (serpin family A member 10)

Gene

• Entrez ID: 51156
• Gene name: Serpin family A member 10
• Gene symbol: SERPINA10
• Synonyms (NCBI Gene): PZI, ZPI
• Chromosome: 14
• Chromosome location: 14q32.13
• Summary: The protein encoded by this gene belongs to the serpin family. It is predominantly expressed in the liver and secreted in plasma. It inhibits the activity of coagulation factors Xa and XIa in the presence of protein Z, calcium and phospholipid. Mutations

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1338580	hsa-miR-193a-5p	CLIP-seq
MIRT1338581	hsa-miR-297	CLIP-seq
MIRT1338582	hsa-miR-3148	CLIP-seq
MIRT1338583	hsa-miR-3713	CLIP-seq
MIRT1338584	hsa-miR-410	CLIP-seq
MIRT1338585	hsa-miR-4496	CLIP-seq
MIRT1338586	hsa-miR-4731-5p	CLIP-seq
MIRT1338587	hsa-miR-567	CLIP-seq
MIRT1338588	hsa-miR-637	CLIP-seq
MIRT2324988	hsa-miR-331-3p	CLIP-seq
MIRT2324989	hsa-miR-3614-3p	CLIP-seq
MIRT2324990	hsa-miR-4639-3p	CLIP-seq
MIRT2324991	hsa-miR-4684-5p	CLIP-seq
MIRT2324992	hsa-miR-4722-3p	CLIP-seq
MIRT2324993	hsa-miR-4769-3p	CLIP-seq
MIRT2324994	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	TAS	10460162
GO:0005515	Function	Protein binding	IPI	20427285, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007596	Process	Blood coagulation	IEA
GO:0007599	Process	Hemostasis	IEA
GO:0008201	Function	Heparin binding	IEA
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0060046	Process	Regulation of acrosome reaction	IDA	11751269
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 605271
• HGNC: 15996
• e!Ensembl: ENSG00000140093

Protein

• UniProt ID: Q9UK55
• Protein name: Protein Z-dependent protease inhibitor (PZ-dependent protease inhibitor) (PZI) (Serpin A10)
• Protein function: Inhibits activity of the coagulation protease factor Xa in the presence of PROZ, calcium and phospholipids. Also inhibits factor XIa in the absence of cofactors.
• PDB: 3F1S, 3H5C, 4AFX, 4AJU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00079	Serpin	77 → 441	Serpin (serine protease inhibitor)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
• Sequence:

  MKVVPSLLLSVLLAQVWLVPGLAPSPQSPETPAPQNQTSRVVQAPKEEEEDEQEASEEKA
  SEEEKAWLMASRQQLAKETSNFGFSLLRKISMRHDGNMVFSPFGMSLAMTGLMLGATGPT
  ETQIKRGLHLQALKPTKPGLLPSLFKGLRETLSRNLELGLTQGSFAFIHKDFDVKETFFN
  LSKRYFDTECVPMNFRNASQAKRLMNHYINKETRGKIPKLFDEINPETKLILVDYILFKG
  KWLTPFDPVFTEVDTFHLDKYKTIKVPMMYGAGKFASTFDKNFRCHVLKLPYQGNATMLV
  VLMEKMGDHLALEDYLTTDLVETWLRNMKTRNMEVFFPKFKLDQKYEMHELLRQMGIRRI
  FSPFADLSELSATGRNLQVSRVLQRTVIEVDERGTEAVAGILSEITAYSMPPVIKVDRPF
  HFMIYEETSGMLLFLGRVVNPTLL

• Sequence length: 444

Pathways

Reactome:

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
LAMB2-related infantile-onset nephrotic syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOPHILIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous thrombosis, susceptibility to	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autistic Disorder	Autism	Pubtator	40185380	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	24158387	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31545220	Associate	★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	CTD_human_DG	15461625		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	26982741		★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	26030696	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	31028196	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	30451376		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	31423718	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	30451376		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24158387		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Non rare thrombophilia	Non Rare Thrombophilia	Orphanet			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24158387		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24158387	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	25783867	Inhibit	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	GENOMICS_ENGLAND_DG	10829076		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	BEFREE	15461625		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	CTD_human_DG	15461625		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	Pubtator	15461625	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis	Thrombosis	Pubtator	15461625, 16527896, 25783867	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	15461625, 25341889, 37537391	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	15461625, 16527896, 25783867, 26982741	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations