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This gene is a member of the collagen gene family and is thought to regulate type I collagen fibrillogenesis during fetal development. [provided by RefSeq, Mar 2017]
COL24A1 (Collagen Type XXIV Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL24A1 include Anthracosilicosis and Osteochondrosis. Among its related pathways are Integrin Pathway and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL27A1.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH01J086154 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 608.2 | +0.9 | 915 | 2.9 | PRDM10 ZNF629 ZNF692 ZIC2 PATZ1 ZNF501 EZH2 ZNF600 ZNF341 ZNF140 | COL24A1 lnc-ODF2L-3 ODF2L ZNHIT6 BCL10 C1orf52 piR-61514-010 | |
GH01J085992 | Enhancer | 0.5 | ENCODE | 66.5 | +164.0 | 163996 | 1.4 | BACH1 RUNX3 NFE2 MAFK MAFG NFE2L2 | COL24A1 piR-35189-001 LOC107985061 ZNHIT6 | |
GH01J086105 | Enhancer | 0.7 | Ensembl ENCODE | 30.3 | +51.9 | 51886 | 0.6 | FOXA1 SMARCA5 CTBP1 ZNF217 DPF2 RFX5 MAZ SMARCE1 MYC | COL24A1 piR-31470-021 piR-38352-015 ZNHIT6 | |
GH01J086068 | Enhancer | 0.4 | Ensembl ENCODE | 20 | +88.1 | 88060 | 1.7 | ZIC2 | COL24A1 piR-34822-014 piR-38352-015 ZNHIT6 | |
GH01J086085 | Enhancer | 0.3 | Ensembl | 21.5 | +71.0 | 70986 | 0.8 | ZBTB40 | COL24A1 piR-38352-015 piR-31470-021 ZNHIT6 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005201 | extracellular matrix structural constituent | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0030020 | extracellular matrix structural constituent conferring tensile strength | RCA | 25037231 |
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:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0031012 | extracellular matrix | 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:0030198 | extracellular matrix organization | IBA | 21873635 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - |
ExUns: | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37a | · | 37b | ^ | 38 | ^ | 39 | ^ | 40a | · | 40b | ^ | 41 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COL24A1 30 |
|
||
Dog (Canis familiaris) |
Mammalia | COL24A1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Col24a1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Col24a1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | COL24A1 30 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-21p1.3 31 |
|
ManyToMany | |
si:dkey-61l1.4 31 |
|
ManyToMany | |||
si:ch211-196i2.2 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
712673 | Benign: not provided | 86,125,734(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
779856 | Benign: not provided | 86,125,672(-) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
782379 | Benign: not provided | 85,908,635(-) | G/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
783937 | Benign: not provided | 85,868,619(-) | G/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs774125436 | Uncertain Significance: Malignant tumor of prostate | 85,987,624(-) | G/A | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
anthracosilicosis |
|
|
osteochondrosis |
|
|
fibrochondrogenesis |
|
|