2. Gene
  3. SERPIND1 - serpin family D member 1 Gene

SERPIND1 - serpin family D member 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：serpin 家族 D 成员 1

种属: Homo sapiens

同用名: HC2; LS2; HCF2; HCII; HLS2; THPH10; D22S673

基因 ID: 3053 | 基因类型: protein coding

关于 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).

功能概要

该基因属于 serpin 基因超家族。 Serpins 在许多过程中发挥作用，包括炎症、血液凝固和癌症转移。该家族的成员具有高度保守的二级结构，其具有与蛋白酶活性位点相互作用以抑制蛋白酶活性的反应性中心环。该基因编码一种血浆丝氨酸蛋白酶，可作为凝血酶和胰凝乳蛋白酶抑制剂发挥作用。该蛋白被肝素、硫酸皮肤素和糖胺聚糖激活。该基因的等位基因变异与肝素辅因子 II 缺乏有关。[RefSeq 提供，2015 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_000185.4 NP_000176.2 heparin cofactor 2 precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SERPIND1 蛋白结构

Serpin

Serpin: Serpin (serine protease inhibitor) (130 - 496)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 499 a.a.
蛋白主名 其他名称

heparin cofactor 2

leuserpin 2

SERPIND1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SERPIND1 P05546 VAT1L Homo sapiens Q9HCJ6
Anti Tag CoIP
28514442
种属内
SERPIND1 P05546 VAT1L Homo sapiens Q9HCJ6
Anti Tag CoIP
33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 SERPIND1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77199 Serpin D1 Protein, Human (HEK293, His) P05546 (G20-S499) ≥95%

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12719 SERPIND1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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