COL10A1 - collagen type X alpha 1 chain Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1300

About 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.

Summary

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 Products (1)

mRNA	Protein	Name
NM_000493.4	NP_000484.2	collagen alpha-1(X) chain precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of collagen type X trimer	IPI IPI: Inferred from physical interaction	11839302	GOA
located in collagen-containing extracellular matrix	EXP EXP: Inferred from Experiment	17876790	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

COL10A1 Protein Structure

Collagen

C1q

0
200
400
600
680 a.a.

Protein Preferred Names	Protein Names
collagen alpha-1(X) chain	Schmid metaphyseal chondrodysplasia

COL10A1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

COL10A1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81102	Collagen X Antibody (YA3502)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02959	COL10A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21235	Col10a1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27752	Col10a1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	COL10A1	NCBI