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This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
COL21A1 (Collagen Type XXI Alpha 1 Chain) is a Protein Coding gene. Among its related pathways are Integrin Pathway and Collagen chain trimerization. An important paralog of this gene is COL18A1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH06J056245 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE CraniofacialAtlas | 608.9 | +147.3 | 147326 | 2.8 | CTCF TEAD4 PRDM10 PRDM1 ZIC2 PATZ1 ZNF501 ZNF600 KLF9 ZBTB20 | COL21A1 HSALNG0050778 L13714-388 BMP5 | |
GH06J056394 | Promoter | 0.6 | EPDnew | 600.7 | 0.0 | -20 | 0.1 | MGA ZFHX2 EGR2 | COL21A1 RCC2P7 DST | |
GH06J056231 | Enhancer | 0.6 | Ensembl ENCODE | 19.5 | +162.5 | 162508 | 3.2 | NFE2 MAFK JUN NFE2L2 CEBPB | COL21A1 KIAA1586 HSALNG0050778 L13714-388 BMP5 | |
GH06J056220 | Enhancer | 0.7 | Ensembl ENCODE | 14.7 | +173.7 | 173727 | 1.6 | SP1 CTBP1 PKNOX1 ZNF217 FOSL2 DPF2 FOXA1 ZNF843 FEZF1 FOS | RF00017-5603 COL21A1 piR-55036-083 BMP5 | |
GH06J056090 | Promoter/Enhancer | 1.1 | Ensembl ENCODE | 8.7 | +302.6 | 302616 | 1.6 | CEBPG GATAD2A ATF7 PRDM10 TFE3 FOXA1 RXRB CEBPA KMT2B SOX13 | lnc-BMP5-2 COL21A1 piR-38351-399 BMP5 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0030020 | extracellular matrix structural constituent conferring tensile strength | RCA | 20551380 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005581 | collagen trimer | IEA | -- |
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0005737 | cytoplasm | IEA | -- |
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 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COL21A1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | COL21A1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | COL21A1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | COL21A1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | COL21A1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | COL21A1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | COL21A1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | col21a1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100333837 30 |
|
||
COL21A1 31 |
|
OneToOne | |||
Worm (Caenorhabditis elegans) |
Secernentea | col-135 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
771399 | Benign: not provided | 56,059,169(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
771715 | Benign: not provided | 56,124,072(-) | G/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs12209452 | - | p.Leu821Pro | |||
rs1555131 | - | p.Pro827Ala | |||
rs2764043 | - | p.Leu277Pro |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1388199 | CNV | deletion | 17803354 |
esv2427713 | CNV | deletion | 19546169 |
esv27231 | CNV | loss | 19812545 |
esv2732118 | CNV | deletion | 23290073 |
esv2732119 | CNV | deletion | 23290073 |
esv3539781 | CNV | deletion | 23714750 |
esv3571085 | CNV | loss | 25503493 |
esv3571087 | CNV | loss | 25503493 |
esv3609088 | CNV | loss | 21293372 |
esv3609089 | CNV | loss | 21293372 |
esv993486 | CNV | deletion | 20482838 |
nsv1034037 | CNV | gain | 25217958 |
nsv1074397 | CNV | deletion | 25765185 |
nsv1117623 | CNV | deletion | 24896259 |
nsv1140630 | CNV | deletion | 24896259 |
nsv349404 | CNV | deletion | 16902084 |
nsv477746 | CNV | novel sequence insertion | 20440878 |
nsv526703 | CNV | loss | 19592680 |
nsv5313 | CNV | insertion | 18451855 |
nsv819041 | CNV | gain | 19587683 |
No disorders were found for COL21A1 Gene.