Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]
COL5A3 (Collagen Type V Alpha 3 Chain) is a Protein Coding gene. Diseases associated with COL5A3 include Ehlers-Danlos Syndrome and Lactocele. Among its related pathways are Integrin Pathway and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include heparin binding and extracellular matrix structural constituent. An important paralog of this gene is COL5A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005201 | extracellular matrix structural constituent | NAS | 10722718 |
GO:0005518 | collagen binding | NAS | 10722718 |
GO:0008201 | heparin binding | IEA | -- |
GO:0030020 | extracellular matrix structural constituent conferring tensile strength | RCA | 27559042 |
GO:0043394 | proteoglycan binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005581 | collagen trimer | IEA | -- |
GO:0005588 | collagen type V trimer | IEA,NAS | 1571108 |
GO:0005594 | collagen type IX trimer | IBA | -- |
GO:0005615 | extracellular space | IBA | 21873635 |
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:0007160 | cell-matrix adhesion | IEA | -- |
GO:0030198 | extracellular matrix organization | TAS | -- |
GO:0030199 | collagen fibril organization | NAS | 10722718 |
GO:0043588 | skin development | NAS | 10722718 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: |
ExUns: | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39 | ^ | 40 | ^ | 41 | ^ | 42 | ^ | 43 | ^ | 44 | ^ | 45 | ^ | 46 | ^ | 47 | ^ | 48 | ^ | 49 | ^ | 50 | ^ | 51 | ^ | 52 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: |
ExUns: | 53 | ^ | 54 | ^ | 55 | ^ | 56 | ^ | 57 | ^ | 58a | · | 58b | ^ | 59 | ^ | 60 | ^ | 61a | · | 61b | ^ | 62 | ^ | 63 | ^ | 64 | ^ | 65 | ^ | 66 | ^ | 67 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||
SP2: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COL5A3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | COL5A3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | COL5A3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Col5a3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Col5a3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | COL5A3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | COL5A3 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | COL5A3 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | col5a3a 31 |
|
OneToMany | |
col5a3b 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
714631 | Benign: not provided | 9,980,687(-) | A/G | SYNONYMOUS_VARIANT | |
724669 | Likely Benign: not provided | 9,996,111(-) | G/A | SYNONYMOUS_VARIANT | |
727368 | Likely Benign: not provided | 9,979,394(-) | C/T | SYNONYMOUS_VARIANT | |
768969 | Benign: not provided | 10,005,618(-) | G/A | SYNONYMOUS_VARIANT | |
770806 | Benign: not provided | 9,973,784(-) | A/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1171542 | CNV | insertion | 17803354 |
esv1205344 | CNV | deletion | 17803354 |
esv1756302 | CNV | deletion | 17803354 |
esv2406867 | CNV | deletion | 18987734 |
esv2659051 | CNV | deletion | 23128226 |
esv2667691 | CNV | deletion | 23128226 |
esv2718163 | CNV | deletion | 23290073 |
esv2718164 | CNV | deletion | 23290073 |
esv2718165 | CNV | deletion | 23290073 |
esv2718166 | CNV | deletion | 23290073 |
esv2718167 | CNV | deletion | 23290073 |
esv3404998 | CNV | insertion | 20981092 |
esv3449361 | CNV | duplication | 20981092 |
esv3643646 | CNV | loss | 21293372 |
nsv1059984 | CNV | gain | 25217958 |
nsv1072321 | CNV | deletion | 25765185 |
nsv1131398 | CNV | deletion | 24896259 |
nsv520683 | CNV | loss | 19592680 |
nsv833742 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ehlers-danlos syndrome |
|
|
lactocele |
|
|