1. Gene
  2. COL10A1 - collagen type X alpha 1 chain Gene

COL10A1 - collagen type X alpha 1 chain Gene

中文名称:X 型胶原α1 链

种属: Homo sapiens

基因 ID: 1300 | 基因类型: protein coding

关于 COL10A1

Cytogenetic location: 6q22.1 Genomic coordinates (GRCh38): 6:116,118,909-116,217,129 (from NCBI)

This gene has 5 transcripts (splice variants), 222 orthologues, 23 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码 X 型胶原蛋白的 α 链,这是一种短链胶原蛋白,在软骨内骨化过程中由肥大软骨细胞表达。与 VIII 型胶原蛋白 (另一种短链胶原蛋白) 不同,X 型胶原蛋白是同源三聚体。该基因的突变与 Schmid 型干骺端软骨发育不良 (SMCD) 和日本型脊椎干骺端发育不良 (SMD) 相关。[RefSeq 提供,2008 年 7 月]

This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008]

COL10A1 基因产物(1)

mRNA Protein Name
NM_000493.4 NP_000484.2 collagen alpha-1(X) chain precursor
基因本体论
  • 分子功能
  • 细胞组分
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
25416956 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of collagen type X trimer IPI
IPI: 通过物理相互作用推断
11839302 GOA
located in collagen-containing extracellular matrix EXP
EXP: 通过实验结果推断
17876790 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

COL10A1 蛋白结构

Collagen

Collagen: Collagen triple helix repeat (20 copies) (56 - 102)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (106 - 151)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (300 - 356)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (464 - 519)

C1q

C1q: C1q domain (553 - 677)

  • 0
  • 200
  • 400
  • 600
  • 680 a.a.
蛋白主名 其他名称

collagen alpha-1(X) chain

Schmid metaphyseal chondrodysplasia

COL10A1 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
Intra COL10A1 Q03692 UBQLN1 Homo sapiens Q9UMX0-2
Y2H Array
25416956
Intra COL10A1 Q03692 UBQLN1 Homo sapiens Q9UMX0-2
Validated Y2H
25416956
Intra COL10A1 Q03692 BANP Homo sapiens Q8N9N5-2
Validated Y2H
32296183
Intra COL10A1 Q03692 BANP Homo sapiens Q8N9N5-2
Y2H Array
32296183
Intra COL10A1 Q03692 BANP Homo sapiens Q8N9N5-2
Y2H Prey Pooling
32296183
Intra COL10A1 Q03692 ZNF410 Homo sapiens Q86VK4-3
Validated Y2H
32296183
Intra COL10A1 Q03692 NRF1 Homo sapiens Q16656-4
Validated Y2H
32296183
Intra COL10A1 Q03692 MESD Homo sapiens Q14696
Validated Y2H
32296183
Intra COL10A1 Q03692 MESD Homo sapiens Q14696
Y2H Array
32296183
Intra COL10A1 Q03692 MESD Homo sapiens Q14696
Y2H Prey Pooling
32296183
Intra COL10A1 Q03692 CIDEB Homo sapiens Q9UHD4
Y2H Array
32296183
Intra COL10A1 Q03692 CIDEB Homo sapiens Q9UHD4
Y2H Prey Pooling
32296183
Intra COL10A1 Q03692 CIDEB Homo sapiens Q9UHD4
Validated Y2H
32296183
Intra COL10A1 Q03692 VSNL1 Homo sapiens P62760
Y2H Prey Pooling
32296183
Intra COL10A1 Q03692 VSNL1 Homo sapiens P62760
Y2H Array
32296183
Intra COL10A1 Q03692 UBQLN1 Homo sapiens Q9UMX0
Y2H Prey Pooling
32296183
Intra COL10A1 Q03692 UBQLN1 Homo sapiens Q9UMX0
Validated Y2H
32296183
Intra COL10A1 Q03692 UBQLN1 Homo sapiens Q9UMX0
Y2H Array
32296183
Intra COL10A1 Q03692 SGTB Homo sapiens Q96EQ0
Y2H Prey Pooling
32296183
Intra COL10A1 Q03692 SGTB Homo sapiens Q96EQ0
Validated Y2H
32296183
Intra COL10A1 Q03692 SGTB Homo sapiens Q96EQ0
Y2H Array
32296183
Intra COL10A1 Q03692 UBQLN2 Homo sapiens Q9UHD9
Y2H Prey Pooling
32296183
Intra COL10A1 Q03692 UBQLN2 Homo sapiens Q9UHD9
Validated Y2H
32296183
Intra COL10A1 Q03692 UBQLN2 Homo sapiens Q9UHD9
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Metaphyseal Chondrodysplasia, Schmid Type

MCDS

Schmid Metaphyseal Chondrodysplasia

Metaphyseal Chondrodysplasia Schmid Type

Spondylometaphyseal Dysplasia, Japanese Type

Japanese Type Spondylometaphyseal Dysplasia

Schmid Type Metaphyseal Dysplasia

Metaphyseal Chondrodysplasia Type Schmid

Schmid Type Metaphyseal Chondrodysplasia

SMCD

Chondrodysplasia, Metaphyseal, Schmid Type

Corneal Dystrophy, Subepithelial Mucinous

Cartilage Disease

Cartilage Diseases

Cartilage

Cartilage Disorder

Chondropathy

Cartilage Disorders

Cartilage-Hair Hypoplasia

Metaphyseal Chondrodysplasia, Mckusick Type

CHH

Mckusick Type Metaphyseal Chondrodysplasia

Metaphyseal Dysplasia Without Hypotrichosis

Cartilage Hair Hypoplasia Like Syndrome

Metaphyseal Chondrodysplasia Mckusick Type

Chhv

Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only

Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency

Cartilage-Hair Syndrome

Mckusick'S Metaphyseal Chondrodysplasia Syndrome

Metaphyseal Chondrodysplasia, Recessive Type

Autosomal Recessive Metaphyseal Chondrodysplasia

Spondyloepimetaphyseal Dysplasia, Strudwick Type

Spondylometaphyseal Dysplasia

Strudwick Syndrome

Dappled Metaphysis Syndrome

Semd, Strudwick Type

Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type

Smed, Strudwick Type

Smd

Smed Strudwick Type

SEMDSTWK

Smed, Type I

Semdc

Smed Type 1

Spondyloepimetaphyseal Dysplasia Strudwick Type

Sed Strudwick

Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type

Smed Type I

Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses

Dysplasia, Spondyloepimetaphyseal, Strudwick Type

Dysplasia, Spondylometaphyseal

Corneal Dystrophy, Subepithelial Mucinous

Subepithelial Mucinous Corneal Dystrophy

SMCD

Coxa Vara
Metaphyseal Dysplasia

Bakwin-Krida Syndrome

Pyle'S Disease

Pyle-Cohn Syndrome

Progressive Pseudorheumatoid Dysplasia

Progressive Pseudorheumatoid Arthropathy Of Childhood

Arthropathy, Progressive Pseudorheumatoid, Of Childhood

Spondyloepiphyseal Dysplasia Tarda With Progressive Arthropathy

Ppd

Ppac

Sedt-Pa

Spondyloepiphyseal Dysplasia Tarda-Progressive Arthropathy Syndrome

PPRD

Progressive Pseudorheumatoid Chondrodysplasia

Spondyloepiphyseal Dysplasia Tarda - Progressive Arthropathy

Spondyloepiphyseal Dysplasia Tarda With Progressive Arthropathy

Dysplasia, Pseudorheumatoid, Progressive

Cleidocranial Dysplasia

Cleidocranial Dysostosis

CLCD

Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only

Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly

CCD

Marie-Sainton Disease

Dysplasia Cleidocranial

Dento-Osseous Dysplasia

Marie-Sainton Syndrome

Dysplasia, Cleidocranial

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

PLSD-T

PLSDT

Platyspondylic Dysplasia, Torrance Type

Lethal Short-Limbed Platyspondylic Dwarfism, Torrance Type

Thanatophoric Dysplasia, Torrance Variant

Platyspondylic Skeletal Dysplasia, Torrance Type

Torrance Type Platyspondylic Dysplasia

Platyspondylic Dysplasia, Torrance-Luton Type

Platyspondylic Lethal Skeletal Dysplasia Torrance Type

Lethal Short-Limbed Platyspondylic Dwarfism Torrance Type

Thanatophoric Dysplasia Torrance Variant

Platyspondylic Chondrodysplasia, Torrance-Luton Type

Plsd-Tl

Dysplasia, Skeletal, Platyspondylic, Torrance Type

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Chondrosarcoma

Cartilaginous Cancer

Chondrosarcoma Of Bone

Primary Chondrosarcoma Of The Bone

CHDSA

Epithelial And Subepithelial Dystrophy
Osteoarthritis

Osteoarthrosis

Degenerative Joint Disease

Hypertrophic Arthritis

Arthropathy

Degenerative Polyarthritis

Degenerative Arthritis

Osteoarthrosis And Allied Disorder

Arthritis, Degenerative

Oa

Osteoarthritis Deformans

Osteoarthrosis Deformans

Kashin-Beck Disease

Spondyloperipheral Dysplasia

Spondyloperipheral Dysplasia With Short Ulna

Spondyloperipheral Dysplasia-Short Ulna Syndrome

SPD

Dysplasia, Spondyloperipheral

Spondyloperipheral Dysplasia Short Ulna

Hyperostosis

Hypertrophy Of Bone

Bone Hypertrophy

Bone Thickening

Periosteum Thickening

Bone Disease

Bone Diseases

Skeletal Disease

Skeletal Disorder

Disorder Of Skeletal System

Spondyloepiphyseal Dysplasia Congenita

SEDC

Sed Congenita

Spondyloepiphyseal Dysplasia, Congenital Type

Late Spondyloepiphyseal Dysplasia

Sed, Congenital Type

Congenital Spondyloepiphyseal Dysplasia

Spranger-Wiedemann Disease

Spondyloepiphyseal Dysplasia Congenital Type

Dysplasia, Spondyloepiphyseal, Congenita

Spondyloepiphyseal Dysplasia, Congenita

Spondyloepiphyseal Dysplasia Tarda, X-Linked

Metachondromatosis

METCDS

MC

Achondrogenesis, Type Ii

Achondrogenesis Type Ii

ACG2

Achondrogenesis, Langer-Saldino Type

Achondrogenesis Type 2

Chondrogenesis Imperfecta

Achondrogenesis, Type Ib, Formerly

Achondrogenesis, Type Ii Or Hypochondrogenesis

Achondrogenesis 2

Acg-Ii

Achondrogenesis-Hypochondrogenesis Type Ii

Achondrogenesis Langer-Saldino Type

Achondrogenesis-Hypochondrogenesis, Type Ii

Hypochondrogenesis

Kniest Dysplasia

Kniest Syndrome

Metatropic Dwarfism, Type Ii

Kniest Chondrodystrophy

Metatropic Dysplasia Type Ii

Swiss Cheese Cartilage Dysplasia

KD

Ks

Metatropic Dwarfism Type Ii

Dysplasia, Kniest

Hypochondrogenesis

Achondrogenesis Type Ii/Hypochondrogenesis

Achondrogenesis

Achondrogenesis Syndrome

Multiple Epiphyseal Dysplasia

Med

Polyepiphyseal Dysplasia

Edm

Epiphyseal Dysplasia, Multiple, 1

Epiphyseal Dysplasia, Multiple, 2

Epiphyseal Dysplasia, Multiple, 3

Epiphyseal Dysplasia, Multiple, 4

Epiphyseal Dysplasia, Multiple, 5

Epiphyseal Dysplasia, Multiple

Edm1

Edm2

Edm3

Edm4

Edm5

Epiphyseal Dysplasia, Fairbank Type

Epiphyseal Dysplasia, Ribbing Type

Multiple Epiphyseal Dysplasia, Autosomal Dominant

Multiple Epiphyseal Dysplasia, Autosomal Recessive

Rmed

Dysplasia, Epiphyseal, Multiple

Osteochondrodysplasias

Spondyloepiphyseal Dysplasia, Nishimura Type

SEDN

Spondyloepiphyseal Dysplasia Nishimura Type

Acromesomelic Dysplasia

Acromesomelic Dwarfism

Dysplasia, Acromesomelic

Acromesomelic Dysplasia Hunter-Thompson Type

Campomelic Dysplasia

Acampomelic Campomelic Dysplasia

Camptomelic Dysplasia

Campomelic Dysplasia With Autosomal Sex Reversal

Cmpd

CMD1

Cmpd1

Cmpd1/Sra1

Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal

Campomelic Dwarfism

Campomelic Syndrome

Dysplasia, Campomelic

Chronic Myeloproliferative Disorder

Familial Dilated Cardiomyopathy

Unilateral Focal Polymicrogyria
Scoliosis
Bone Development Disease
Hypochondroplasia

HCH

Hypochondrodysplasia

Chondrogenesis Imperfecta

Hypochondroplastic Dwarfism

Hypochondroplastic Short Stature

Stickler Syndrome

Arthroophthalmopathy

Hereditary Arthro-Ophthalmo-Dystrophy

Hereditary Arthro-Ophthalmopathy

Stickler Dysplasia

Hereditary Progressive Arthroophthalmopathy

Stickler Syndrome, Type 1

Brittle Bone Disorder

Osteogenesis Imperfecta

Brittle Bone Disease

Fragilitas Ossium

Osteopsathyrosis

Lobstein Disease

Oi

Vrolik Disease

Lobstein'S Disease

Lobstein'S Syndrome

Vrolik'S Disease

Porak And Durante Disease

Glass Bone Disease

Osteogenesis Imperfecta, Dominant Perinatal Lethal

Osteogenesis Imperfecta, Recessive Perinatal Lethal

Brittle Bone Syndrome

Oi - [Osteogenesis Imperfecta]

Ossium Fragility

Osteitis Fragilitans

Bony Fragility

Blue Sclera With Fragility Of Bone And Deafness

White Blue Sclera - Fragility Of Bone - Deafness

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
Rattus norvegicus COL10A1 RGD RGD:2371
Bos taurus COL10A1 VGNC VGNC:27553
Felis catus COL10A1 VGNC VGNC:102404
Macaca mulatta COL10A1 VGNC VGNC:104370
Mus musculus COL10A1 MGD MGI:88445
Canis familiaris COL10A1 VGNC VGNC:39455