2. Gene
  3. MMRN1 - multimerin 1 Gene

MMRN1 - multimerin 1 Gene

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

中文名称：多聚蛋白 1

种属: Homo sapiens

同用名: ECM; MMRN; GPIa*; EMILIN4

基因 ID: 22915 | 基因类型: protein coding

关于 MMRN1

Cytogenetic location: 4q22.1 Genomic coordinates (GRCh38): 4:89,879,511-89,954,614 (from NCBI)

This gene has 4 transcripts (splice variants), 124 orthologues and 4 paralogues. Broad expression in placenta (RPKM 19.8), gall bladder (RPKM 14.4) and 19 other tissues.

功能概要

Multimerin 是一种大量的可溶性蛋白质，存在于血小板和血管内皮细胞中。它由通过链间二硫键连接的亚基组成，形成大的、大小可变的同源多聚体。 Multimerin 是一种因子 V/Va 结合蛋白，可作为血小板因子 V 的载体蛋白。它还可能具有细胞外基质或粘附蛋白的功能。最近，发现患有异常常染色体显性遗传性出血性疾病 (因子 V 魁北克) 的患者存在血小板多聚体缺乏症。[RefSeq 提供，2008 年 7 月]

Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers. Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have functions as an extracellular matrix or adhesive protein. Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin. [provided by RefSeq, Jul 2008]

MMRN1 基因产物(3)

mRNA Protein Name
NM_001371403.1 NP_001358332.1 multimerin-1 isoform 1 precursor
NM_001410735.1 NP_001397664.1 multimerin-1 isoform 2
NM_007351.3 NP_031377.2 multimerin-1 isoform 1 precursor

MMRN1 蛋白结构

EMI

EMI: EMI domain (207 - 278)

EGF

EGF: EGF-like domain (1045 - 1075)

C1q

C1q: C1q domain (1102 - 1225)

  • 0
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  • 1228 a.a.
蛋白主名 其他名称

multimerin-1

elastin microfibril interface located protein 4

关联疾病

疾病名称 别名
Quebec Platelet Disorder

Factor V Quebec

QPD

Bdplt5

Bleeding Disorder, Platelet-Type, 5

Platelet-Type Bleeding Disorder 5

Bleeding Disorder Platelet-Type 5

Platelet Disorder, Quebec
Blood Platelet Disease

Platelet Disorder

Blood Platelet Disorders

Thrombocytopathy

Platelet Dysfunction

Platelet Disorders

Qualitative Platelet Deficiency
Thrombocytopenia With Beta-Thalassemia, X-Linked

XLTT

Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis

Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome

Gata1-Related X-Linked Cytopenia

X-Linked Thrombocytopenia With Beta-Thalassemia

Thrombocytopenia Platelet Dysfunction Hemolysis And Imbalanced Globin Synthesis
Multicentric Carpotarsal Osteolysis Syndrome

Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy

MCTO

Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy

Idiopathic Multicentric Osteolysis With Or Without Nephropathy

Autosomal Dominant Multicentric Osteolysis

Hereditary Osteolysis Of Carpal Bones With Or Without Nephropathy

Multicentric Osteolysis, Autosomal Dominant

Multicentric Osteolysis Nephropathy

Osteolysis, Carpotarsal, Multicentric Syndrome

Lytic Lesion
Vascular Disease

Vascular Diseases

Aneurysm

Spinal Cord Ischemia

Vascular Anomaly

Spinal Cord Vascular Diseases

Vascular Tissue Disease
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08560 MMRN1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21651 Mmrn1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS28169 Mmrn1 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta MMRN1 VGNC VGNC:74904
Canis familiaris MMRN1 VGNC VGNC:43291
Rattus norvegicus MMRN1 RGD RGD:1587248
Mus musculus MMRN1 MGD MGI:1918195
Felis catus MMRN1 VGNC VGNC:68293
Bos taurus MMRN1 VGNC VGNC:31532
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