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  2. DMP1 - dentin matrix acidic phosphoprotein 1 Gene

DMP1 - dentin matrix acidic phosphoprotein 1 Gene

中文名称:牙本质基质酸性磷蛋白 1

种属: Homo sapiens

同用名: ARHP; ARHR; DMP-1

基因 ID: 1758 | 基因类型: protein coding

关于 DMP1

Cytogenetic location: 4q22.1 Genomic coordinates (GRCh38): 4:87,650,280-87,664,357 (from NCBI)

This gene has 7 transcripts (splice variants), 109 orthologues and is associated with 3 phenotypes. Low expression observed in reference dataset.

功能概要

牙本质基质酸性磷蛋白是一种细胞外基质蛋白,是小整合素结合配体 N-连接糖蛋白家族的成员。这种蛋白质对骨骼和牙本质的正常矿化至关重要,存在于骨骼和牙齿组织的不同细胞中。该蛋白质包含大量酸性结构域、多个磷酸化位点、功能性 arg-gly-asp 细胞附着序列和 DNA 结合结构域。在未分化的成骨细胞中,它主要是一种调节成骨细胞特异性基因表达的核蛋白。在成骨细胞成熟过程中,蛋白质被磷酸化并输出到细胞外基质,在那里它协调矿化基质的形成。已知该基因的突变会导致常染色体隐性遗传性低磷血症,这是一种表现为佝偻病和骨软化症的疾病。该基因结构在哺乳动物中是保守的。已针对该基因描述了编码不同亚型的两种转录物变体。[RefSeq 提供,2008 年 7 月]

Dentin matrix acidic phosphoprotein is an extracellular matrix protein and a member of the small Integrin binding ligand N-linked glycoprotein family. This protein, which is critical for proper mineralization of bone and dentin, is present in diverse cells of bone and tooth tissues. The protein contains a large number of acidic domains, multiple phosphorylation sites, a functional arg-gly-asp cell attachment sequence, and a DNA binding domain. In undifferentiated osteoblasts it is primarily a nuclear protein that regulates the expression of osteoblast-specific genes. During osteoblast maturation the protein becomes phosphorylated and is exported to the extracellular matrix, where it orchestrates mineralized matrix formation. Mutations in the gene are known to cause autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia. The gene structure is conserved in mammals. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

DMP1 基因产物(2)

mRNA Protein Name
NM_001079911.3 NP_001073380.1 dentin matrix acidic phosphoprotein 1 isoform 2 precursor
NM_004407.4 NP_004398.1 dentin matrix acidic phosphoprotein 1 isoform 1 precursor

DMP1 蛋白结构

DMP1

DMP1: Dentin matrix protein 1 (DMP1) (1 - 513)

  • 0
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  • 400
  • 513 a.a.
蛋白主名 其他名称

dentin matrix acidic phosphoprotein 1

dentin matrix protein 1

重组 DMP1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70105 DMP-1 Protein, Human (HEK293, His) Q13316 (L17-Y513) ≥95%

关联疾病

疾病名称 别名
Hypophosphatemic Rickets, Autosomal Recessive, 1

ARHR1

Arhp

Hypophosphatemic Rickets, Ar

Arhr

Hypophosphatemia, Autosomal Recessive

Hypophosphatemia Autosomal Recessive

Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets

Hypophosphatemic Rickets, X-Linked Recessive

Hypophosphatemic Rickets

X-Linked Recessive Hypophosphatemic Rickets

XLRHR

Hypophosphatemic Rickets Disorders

Rickets Hypophosphatemic

Rickets, Hypophosphatemic, X-Linked Recessive

Familial Hypophosphatemic Rickets

Autosomal Recessive Hypophosphatemic Rickets

Arhr

Hypophosphatemic Rickets, Autosomal Recessive

Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets

Osteomalacia

Adult Rickets

Hypophosphatemia

Vitamin D-Resistant Rickets

Hereditary Hypophosphatemic Rickets

Vdrr

Vitamin D Resistant Rickets

Hypophosphatemic Rickets, X-Linked Dominant

Familial Hypophosphatemic Rickets

Rickets

Vitamin D Deficiency

Vitamin D

Active Rickets

Hypovitaminosis D

Nutritional Rickets

Vitamin D Deficiency Disease

Vitamin-D Deficiency Rickets

Vitamin D-Dependent Rickets

Avitaminosis D

Infantile Osteomalacia

Juvenile Osteomalacia

Dentinogenesis Imperfecta

Hereditary Opalescent Dentin

Dentinogenesis Imperfecta Without Osteogenesis Imperfecta

Dgi

Capdepont Teeth

Dgi Without Oi

Di

Non-Syndromic Dgi

Non-Syndromic Dentinogenesis Imperfecta

Opalescent Teeth Without Oi

Opalescent Teeth Without Osteogenesis Imperfecta

Opalescent Dentin

Dentinogenesis Imperfecta 1

Capdepont Teeth

Dentinogenesis Imperfecta Type 2

Opalescent Dentin

Dentinogenesis Imperfecta Without Osteogenesis Imperfecta

Dgi-Ii

Dentinogenesis Imperfecta, Shields Type 2

DGI1

Opalescent Teeth Without Osteogenesis Imperfecta

Dentinogenesis Imperfecta, Shields Type Ii

Dgi-2

Di-2

DGI2

Dentinogenesis Imperfecta Shields Type Ii

Non-Syndromic Dentinogenesis Imperfecta

Non-Syndromic Dgi

Dentin Dysplasia

Dentinal Dysplasia

Dd

Dysplasia, Dentin

Shell Teeth

Raine Syndrome

Lethal Osteosclerotic Bone Dysplasia

RNS

Renal Nutcracker Syndrome

Osteomalacia, Sclerosing, With Cerebral Calcification

Left Renal Vein Entrapment Syndrome

Csocc

Osteosclerotic Bone Dysplasia, Lethal

Combination Of Microcephaly, Exophthalmos, Hypoplastic Nose And Midface, Gum Hyperplasia, Cleft Palate, Apparently Low-Set Ears, And Osteosclerosis

Nutcracker Syndrome

Vitamin D-Dependent Rickets Type 2b
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1

Hypophosphatemic Nephrolithiasis/Osteoporosis 1

NPHLOP1

Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1

Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1

Root Resorption
Dental Pulp Necrosis

Pulp Necrosis

Necrotic Pulp

Necrosis Of The Pulp

Dead Pulp

Devitalised Pulp

Putrescent Pulpitis

Devitalized Tooth

Dental Pulp Gangrene

Pulp Gangrene

Nonvital Tooth

Pulpless Tooth

Putrescent Pulp

Fanconi Renotubular Syndrome 2

FRTS2

Fanconi Renotubular Syndrome, Type 2

Hypophosphatemic Nephrolithiasis/Osteoporosis

Nephrolithiasis/Osteoporosis, Hypophosphatemic

Sclerosteosis 1

SOST1

Sost

Cortical Hyperostosis With Syndactyly

Sclerosteosis

Sclerosteosis, Type 1

Osteoglophonic Dysplasia

Osteoglophonic Dwarfism

OGD

Fairbank-Keats Syndrome

Osteoglosphonic Dysplasia

Dysplasia, Osteoglophonic

Dental Caries

Dental Caries Extending Into Pulp

Dental Caries Of Smooth Surface

Dental Caries Pit And Fissure

Smooth Surface Dental Caries

Dental Decay

Carious Teeth

Dental Cavity

Saprodontia

Teeth Decayed

Tooth Caries

Tooth Decay

Dental Pulp Disease

Dental Pulp Diseases

Dental Pulp Disorder

Disorder Of Pulp Of Tooth

Pulp Disorder

Hypophosphatemic Rickets, Autosomal Dominant

Autosomal Dominant Hypophosphatemic Rickets

ADHR

Autosomal Dominant Hypophosphatemia

Vitamin D-Resistant Rickets, Autosomal Dominant

Hypophosphatemia, Autosomal Dominant

Autosomal Dominant Vitamin D-Resistant Rickets

Rickets, Hypophosphatemic, Autosomal Dominant

Vitamin D Hydroxylation-Deficient Rickets, Type 1b

VDDR1B

Vitamin D-Dependent Rickets Type 1b

Vitamin D-Dependent Rickets, Type 1b

25-Hydroxyvitamin D3 Deficiency, Selective

Pseudovitamin D3 Deficiency Rickets Due To 25-Hydroxylase Deficiency

Rickets Due To Defect In Vitamin D 25-Hydroxylation Deficiency

Rickets Vitamin D-Dependent 1b

25-Hydroxyvitamimn D3 Deficiency Selective

25-Hydroxyvitamin D(3) Deficiency

Pseudovitamin D(3) Deficiency Rickets Due To 25-Hydroxylase Deficiency

Selective 25-Hydroxyvitamin D(3) Deficiency

Rickets Due To Defect In Vitamin D 25-Hydroxylation

Hypophosphatemic Rickets, X-Linked Dominant

X-Linked Hypophosphatemia

Xlh

Vitamin D-Resistant Rickets, X-Linked

X-Linked Hypophosphatemic Rickets

XLHR

Hyp

Hypophosphatemic Vitamin D-Resistant Rickets

Hpdr

X-Linked Dominant Hypophosphatemic Rickets

Familial Hypophosphatemic Rickets

Hypophosphatemia, X-Linked

Hypophosphatemia, Vitamin D-Resistant Rickets

Hypophosphatemic Rickets X-Linked Dominant

X-Linked Vitamin D-Resistant Rickets

Hypophophatemia, X-Linked

Hypophophatemic Vitamin D-Resistant Rickets

Hypophosphatemia X-Linked

Vitamin D-Resistant Rickets X-Linked

Vitamin D-Resistant Rickets

Rickets, X-Linked Hypophosphatemic

Vitamin D Hydroxylation-Deficient Rickets, Type 1a

Vitamin D-Dependent Rickets, Type 1a

Vitamin D-Dependent Rickets, Type 1

VDDR1A

25-Hydroxycholecalciferol-1-Hydroxylase Deficiency

1-Alpha-Hydroxylase Deficiency

Vdd1

Pddr1a

Pddr Ia

Vitamin D-Dependent Rickets, Type I

Vitamin D-Dependent Rickets Type 1a

1-Alpha, 25-Hydroxyvitamin D3 Deficiency, Selective

Vitamin D Dependency, Type 1

Pseudovitamin D-Deficiency Rickets, Type Ia

Rickets Vitamin D-Dependent 1a

1-Alpha 25-Hydroxyvitamin D3 Deficiency Selective

Pddr

Pseudovitamin D Deficiency Rickets

Pseudovitamin D-Deficiency Rickets Type Ia

Vitamin D Dependency Type 1

Familial Isolated Hypoparathyroidism

Fih

Arterial Calcification Of Infancy

Idiopathic Infantile Arterial Calcification

Generalized Arterial Calcification Of Infancy

Iiac

Occlusive Infantile Arteriopathy

Infantile Arteriosclerosis

Gaci

Idiopathic Obliterative Arteriopathy

Generalized Arterial Calcification In Infancy

Arteriopathia Calcificans Infantum

Diffuse Arterial Calcifying Elastopathy Of Infancy

Infantile Calcifying Arteriopathy

Medial Coronary Sclerosis Of Infancy

Coronary Sclerosis, Medial, Of Infancy

Calcification, Arterial, Generalized, Infancy

Dental Abscess
Vitamin D-Dependent Rickets, Type 2a

Hvdrr

Generalized Resistance To 1,25-Dihydroxyvitamin D

Hypocalcemic Vitamin D-Resistant Rickets

VDDR2A

Rickets, Hereditary Vitamin D-Resistant

Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol

Pddr Iia

Rickets-Alopecia Syndrome

Rickets, Vitamin D-Resistant, Type Iia

Vitamin D-Dependent Rickets Type 2a

Vitamin D-Dependent Rickets, Type 2

Vitamin D-Dependent Rickets, Type 2a, With Or Without Alopecia

Generalized 1,25-Dihydroxyvitamin D

Pseudovitamin D-Deficiency, Type Iia

Hereditary Vitamin D-Resistant Rickets

Vddr Ii

Vdrr Ii

Vitamin D-Dependent Rickets Type Ii

Vitamin D-Resistant Rickets Type Ii

Rickets Vitamin D-Dependent 2a

Pseudovitamin D-Deficiency Type Iia

Rickets Hereditary Vitamin D-Resistant

Type Iia Rickets

Vitamin D-Dependent Rickets Type 2a With Or Without Alopecia

Vitamin D-Dependent Rickets, Type Ii

Familial Hypophosphatemic Rickets

Hypophosphatemic Rickets, X-Linked Dominant

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris DMP1 VGNC VGNC:57414
Mus musculus DMP1 MGD MGI:94910
Rattus norvegicus DMP1 RGD RGD:2508
Felis catus DMP1 VGNC VGNC:107327
Macaca mulatta DMP1 VGNC VGNC:71933
Bos taurus DMP1 VGNC VGNC:28108
Others DMP1 NCBI