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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 (Collagen Type XXVII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL27A1 include Steel Syndrome and Ovarian Lymphoma. Among its related pathways are ERK Signaling and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL24A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005201 | extracellular matrix structural constituent | IBA | 21873635 |
GO:0030020 | extracellular matrix structural constituent conferring tensile strength | HDA | 28344315 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005581 | collagen trimer | IEA | -- |
GO:0005583 | fibrillar collagen trimer | IEA | -- |
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Collagen chain trimerization |
Intrinsic Prothrombin Activation Pathway
.48
Blood Coagulation Cascade
.46
|
|
2 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
4 | Phospholipase-C Pathway |
Phospholipase-C Pathway
.56
|
PTEN Pathway
.56
|
5 | Degradation of the extracellular matrix |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003431 | growth plate cartilage chondrocyte development | IEA | -- |
GO:0030198 | extracellular matrix organization | IEA,IBA | 21873635 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COL27A1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | COL27A1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | COL27A1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Col27a1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Col27a1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | COL27A1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | COL27A1 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | COL27A1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100490770 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | col27a1b 31 |
|
OneToMany | |
col27a1a 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
692220 | Uncertain Significance: Steel syndrome | 114,231,822(+) |
G/A NM_032888.4(COL27A1):c.2521G>A (p.Gly841Arg) |
MISSENSE | |
828066 | Likely Pathogenic: Steel syndrome | 114,306,556(+) |
GGAGGA/G NM_032888.4(COL27A1):c.4979_4983del (p.Gly1660fs) |
FRAMESHIFT | |
843810 | Pathogenic: not provided | 114,283,743(+) |
CG/C NM_032888.4(COL27A1):c.3917del (p.Gly1306fs) |
FRAMESHIFT | |
870446 | Pathogenic: Steel syndrome | 114,219,828(+) |
G/A NM_032888.4(COL27A1):c.2405G>A (p.Gly802Glu) |
MISSENSE | |
939040 | Likely Pathogenic: not provided | 114,195,957(+) |
A/G NM_032888.4(COL27A1):c.2071-2A>G |
SPLICE_ACCEPTOR |
Disorder | Aliases | PubMed IDs |
---|---|---|
steel syndrome |
|
|
ovarian lymphoma |
|
|
fibrochondrogenesis 1 |
|
|
achondrogenesis, type ii |
|
|
fibrochondrogenesis |
|
|