SERPIND1 - serpin family D member 1 Gene

Also Known as HC2; LS2; HCF2; HCII; HLS2; THPH10; D22S673

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 3053

About SERPIND1

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:20,774,113-20,787,720 (from NCBI)

This gene has 2 transcripts (splice variants), 199 orthologues, 36 paralogues and is associated with 1 phenotype. Restricted expression toward liver (RPKM 330.2).

Summary

This gene belongs to the Serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and Cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a Thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with Heparin Cofactor II deficiency. [provided by RefSeq, Jul 2015]

SERPIND1 Products (1)

mRNA	Protein	Name
NM_000185.4	NP_000176.2	heparin cofactor 2 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SERPIND1 Protein Structure

Serpin

0
100
200
300
400
499 a.a.

Protein Preferred Names	Protein Names
heparin cofactor 2	leuserpin 2

SERPIND1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	SERPIND1	P05546	VAT1L	Homo sapiens	Q9HCJ6	Anti Tag CoIP	28514442
Intra	SERPIND1	P05546	VAT1L	Homo sapiens	Q9HCJ6	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SERPIND1 Proteins

製品番号	製品名	アクセッション番号	純度
HY-P77199	Serpin D1 Protein, Human (HEK293, His)	P05546 (G20-S499)	≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

Diseases	Alias
Heparin Cofactor Ii Deficiency	Thrombophilia Due To Heparin Cofactor Ii Deficiency THPH10 Hcf Ii Deficiency Hcf2 Deficiency Thrombophilia 10 Due To Heparin Cofactor Ii Deficiency Hcf 2 Deficiency Thrombophilia Due To Heparin Cofactor 2 Deficiency Thrombophilia, Due To Heparin Cofactor Ii Deficiency
Thrombophilia	Hypercoagulability State
Dysfibrinogenemia, Congenital	Dysfibrinogenemia Hypodysfibrinogenemia Familial Dysfibrinogenemia Familial Hypodysfibrinogenemia Hypodysfibrinogenemia, Congenital Dysfibrinogenemia, Familial Congenital Dysfibrinogenemia DYSFIBRIN
Uterus Carcinoma In Situ
Thrombosis	Thrombosis Of Blood Vessel
Cervix Uteri Carcinoma In Situ	Carcinoma In Situ Of Cervix Carcinoma In Situ Of Uterine Cervix Cervical Intraepithelial Neoplasia Carcinoma Of Cervix Stage 0 Cervical Intraepithelial Neoplasia Grade Iii With Severe Dysplasia Cervix Ca In Situ Cin Iii Cin Iii - Carcinoma In Situ Of Cervix Cin Iii - Severe Dyskaryosis Severe Dysplasia Of Cervix Severe Dysplasia Of The Cervix Uteri Squamous Intraepithelial Neoplasia, Grade Iii Cervix Intraepithelial Neoplasia Grade 3 Ajcc V7
Chronic Cervicitis
Prothrombin Thrombophilia	Prothrombin G20210a Thrombophilia Hyperprothrombinemia
Stroke, Ischemic	Cerebral Infarction Stroke Ischemic Stroke Cerebrovascular Accident Cerebral Infarction, Susceptibility To Stroke, Ischemic, Susceptibility To Cerebral Infarct Ischemic Stroke, Susceptibility To Stroke, Susceptibility To Cva - Cerebral Infarction ISCHSTR Ischemic Cerebrovascular Accident
Hurler-Scheie Syndrome	Mucopolysaccharidosis Type Ih/S Mucopolysaccharidosis Ih/S MPS1H/S Mpsih/S Mucopolysaccharidosis Type 1h/S Mps1-Hs Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis I Mucopolysaccharidosis 1h/S Mps-Ih/S
Waardenburg Syndrome, Type 3	Waardenburg Syndrome Type 3 Klein-Waardenburg Syndrome WS3 Waardenburg Syndrome With Upper Limb Anomalies Waardenburg Syndrome Type Iii Waardenburg Syndrome, Type Iii White Forelock Syndrome With Multiple Congenital Malformations Waardenburg Syndrome With Limb Anomalies Waardenburg Syndrome 3 White Forelock With Malformations Klein'S Syndrome
Cervicitis	Uterine Cervicitis Inflammation Of Cervix
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Familial Encephalopathy With Neuroserpin Inclusion Bodies FENIB Encephalopathy, Familial, With Collins Bodies Familial Dementia With Neuroserpin Inclusion Bodies Familial Encephalopathy With Collins Bodies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS12719	SERPIND1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Bos taurus	SERPIND1	VGNC	VGNC:34475
Rattus norvegicus	SERPIND1	RGD	RGD:619854
Macaca mulatta	SERPIND1	VGNC	VGNC:77357
Canis familiaris	SERPIND1	VGNC	VGNC:46035
Mus musculus	SERPIND1	MGD	MGI:96051
Felis catus	SERPIND1	VGNC	VGNC:67540
Others	SERPIND1	NCBI