COL27A1 - collagen type XXVII alpha 1 chain Gene

Homo sapiens

Also known as STLS

Gene ID: 85301 | Gene type: protein coding

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

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02979	COL27A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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