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COL27A1 - collagen type XXVII alpha 1 chain Gene

Also Known as STLS

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 85301

About COL27A1

Cytogenetic location: 9q32 Genomic coordinates (GRCh38): 9:114,154,098-114,312,511 (from NCBI)

This gene has 8 transcripts (splice variants), 107 orthologues, 37 paralogues and is associated with 3 phenotypes. Ubiquitous expression in endometrium (RPKM 17.8), prostate (RPKM 8.1) and 23 other tissues.

Summary

This gene encodes a member of the fibrillar Collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]

COL27A1 Products (1)

mRNA	Protein	Name
NM_032888.4	NP_116277.2	collagen alpha-1(XXVII) chain preproprotein

COL27A1 Protein Structure

Collagen

COLFI

0
300
600
900
1200
1500
1860 a.a.

Protein Preferred Names	Protein Names
collagen alpha-1(XXVII) chain	collagen, type XXVII, alpha 1

関連疾患

Diseases	Alias
Steel Syndrome	STLS Dislocated Hips And Radial Heads, Carpal Coalition, Scoliosis, And Short Stature Bilateral Hip And Radial Head Dislocations-Short Stature-Scoliosis-Carpal Coalitions-Pes Cavus-Facial Dysmorphism Syndrome
Fibrochondrogenesis 1	FBCG1 Fibrochondrogenesis, Type 1
Trichothiodystrophy 5, Nonphotosensitive	TTD5 Nonphotosensitive Trichothiodystrophy 5 Trichothiodystrophy 5, Non-Photosensitive
Scoliosis
Ovarian Lymphoma
Deafness, X-Linked 6	DFNX6 X-Linked Deafness 6 Deafness, X-Linked, 6 Deafness, X-Linked, Type 6
Caffey Disease	Infantile Cortical Hyperostosis CAFYD Cortical Congenital Hyperostosis Caffey-Silverman Syndrome De Toni-Caffey Disease Hyperostosis Cortical Infantile Hyperostosis, Cortical, Congenital
Fibrochondrogenesis	Fbcg1 Fbcg2 Fibrochondrogenesis-1 Fibrochondrogenesis-2 Fibrochondrogenesis 1 Fibrochondrogenesis 2
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
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Marshall Syndrome	MRSHS Deafness, Myopia, Cataract, Saddle Nose-Marshall Type Periodic Fever, Aphthous Stomatitis, Pharyngitis And Adenitis Pfapa Syndrome Pfapa Marshall Syndrome With Periodic Fever Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome
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
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis With Renal Tubular Acidosis Marble Brain Disease OPTB3 Guibaud-Vainsel Syndrome Carbonic Anhydrase Ii Deficiency Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis Autosomal Recessive Osteopetrosis 3 Carbonic Anhydrase 2 Deficiency Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis Osteopetrosis Autosomal Recessive 3 Autosomal Recessive Osteopetrosis Type 3 Guibaud Vainsel Syndrome Mixed Rta Mixed Renal Tubular Acidosis Renal Tubular Acidosis Type 3 Carbonic Anhydrase Ii Deficiency Syndrome Carbonic Anhydrase Ii Variant Osteopetrosis, Autosomal Recessive, Type 3 Carbonic Anhydrase 2
Osteogenesis Imperfecta, Type I	Osteogenesis Imperfecta Type I OI1 Oi, Type I Osteogenesis Imperfecta Tarda Osteogenesis Imperfecta With Blue Sclerae Osteogenesis Imperfecta Type 1 Adair-Dighton Syndrome Mild Osteogenesis Imperfecta Non-Deforming Osteogenesis Imperfecta Oi Type 1 Van Der Hoeve Syndrome Classic Non-Deforming Oi With Blue Sclerae Osteogenesis Imperfecta 1 Oi-I Osteopenic Non-Fracture Syndrome Osteogenesis Imperfecta, Mild Osteogenesis Imperfecta Lobstein'S Disease
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv

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 (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS02979	COL27A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Macaca mulatta	COL27A1	VGNC	VGNC:104888
Canis familiaris	COL27A1	VGNC	VGNC:59038
Bos taurus	COL27A1	VGNC	VGNC:56941
Mus musculus	COL27A1	MGD	MGI:2672118
Rattus norvegicus	COL27A1	RGD	RGD:735115
Others	COL27A1	NCBI