Aliases for COL3A1 Gene
Aliases for COL3A1 Gene
External Ids for COL3A1 Gene
- HGNC: 2201
- Entrez Gene: 1281
- Ensembl: ENSG00000168542
- OMIM: 120180
- UniProtKB: P02461
Previous HGNC Symbols for COL3A1 Gene
- EDS4A
Previous GeneCards Identifiers for COL3A1 Gene
- GC02P187975
- GC02P188522
- GC02P189803
- GC02P190041
- GC02P189664
- GC02P189547
- GC02P181698
Summaries for COL3A1 Gene
-
This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
GeneCards Summary for COL3A1 Gene
COL3A1 (Collagen Type III Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL3A1 include Ehlers-Danlos Syndrome, Vascular Type and Acrogeria, Gottron Type. Among its related pathways are ERK Signaling and Focal Adhesion. Gene Ontology (GO) annotations related to this gene include integrin binding and SMAD binding. An important paralog of this gene is COL2A1.
UniProtKB/Swiss-Prot for COL3A1 Gene
-
Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.
Additional gene information for COL3A1 Gene
- Monarch Initiative
- Search for COL3A1 at DataMed
- Search for COL3A1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL3A1 Gene
Genomics for COL3A1 Gene
GeneHancer (GH) Regulatory Elements for COL3A1 Gene
Promoters and enhancers for COL3A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around COL3A1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the COL3A1 gene promoter:
-
- Pbx1a
- NF-kappaB
- POU3F2 (N-Oct-5b)
- POU3F2 (N-Oct-5a)
- POU3F2
- Hlf
- NF-kappaB1
- Bach2
- FOXD1
- Nkx2-5
Regulatory Element Products
Genomic Locations for COL3A1 Gene
Genomic Locations for COL3A1 Gene
- chr2:188,974,320-189,012,746
- (GRCh38/hg38)
- Size:
- 38,427 bases
- Orientation:
- Plus strand
- chr2:189,839,046-189,877,472
- (GRCh37/hg19)
- Size:
- 38,427 bases
- Orientation:
- Plus strand
Genomic View for COL3A1 Gene
Genes around COL3A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q32.2 by Entrez Gene
- 2q32.2 by HGNC
- 2q32.2 by Ensembl
COL3A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for COL3A1 Gene
Proteins for COL3A1 Gene
-
Protein details for COL3A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P02461-CO3A1_HUMAN
- Recommended name:
- Collagen alpha-1(III) chain
- Protein Accession:
- P02461
- D2JYH5
- D3DPH4
- P78429
- Q15112
- Q16403
- Q53S91
- Q541P8
- Q6LDB3
- Q6LDJ2
- Q6LDJ3
- Q7KZ56
- Q8N6U4
- Q9UC88
- Q9UC89
- Q9UC90
- Q9UC91
- R4N3C5
- V9GZI1
Protein attributes for COL3A1 Gene
- Size:
- 1466 amino acids
- Molecular mass:
- 138564 Da
- Quaternary structure:
-
- Trimers of identical alpha 1(III) chains. The chains are linked to each other by interchain disulfide bonds. Trimers are also cross-linked via hydroxylysines.
Three dimensional structures from OCA and Proteopedia for COL3A1 Gene
Protein Expression for COL3A1 Gene
Post-translational modifications for COL3A1 Gene
- Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
- O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.
- Glycosylation at Ser1145 and Lys263
- Modification sites at PhosphoSitePlus
Other Protein References for COL3A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for COL3A1
-
Abcam antibodies for COL3A1
- Invitrogen Antibodies for COL3A1 (AFLGC-COL3A1)
- antibodies-online: Search results for 149 available COL3A1 Antibodies ranked by validation data
- Compare Top COL3A1 Antibodies
-
Recommended
- 104 WB Antibodies (anti-human)
- 2 RIA Antibodies (anti-human)
- 1 IHC (fro) Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 38 WB Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 53 WB Antibodies (anti-rat)
- 3 IF Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- GeneTex COL3A1 Antibody for COL3A1
-
Santa Cruz Biotechnology (SCBT) Antibodies for COL3A1
Protein Products
- R&D Systems Proteins and Enzymes for COL3A1 (Collagen III alpha 1/COL3A1)
-
OriGene Purified Proteins for COL3A1
- Search Origene for MassSpec and Protein Over-expression Lysates for COL3A1
- Origene Custom Protein Services for COL3A1
- Novus Biologicals proteins for COL3A1
- ProSpec Recombinant Proteins for COL3A1
- Search GeneTex for Proteins for COL3A1
-
ProSci Proteins for COL3A1
-
Abcam proteins for COL3A1
No data available for DME Specific Peptides for COL3A1 Gene
Domains & Families for COL3A1 Gene
Gene Families for COL3A1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for COL3A1 Gene
Suggested Antigen Peptide Sequences for COL3A1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P02461UniProtKB/Swiss-Prot:
CO3A1_HUMAN :- The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function.
- Belongs to the fibrillar collagen family.
- Domain:
-
- The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function.
- Family:
-
- Belongs to the fibrillar collagen family.
Function for COL3A1 Gene
Molecular function for COL3A1 Gene
- UniProtKB/Swiss-Prot Function:
- Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.
- GENATLAS Biochemistry:
- collagen type III,alpha 1,fibril forming,putative down-regulated c-Myc target gene,
Phenotypes From GWAS Catalog for COL3A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002020 | protease binding | IPI | 19932771 |
| GO:0005178 | integrin binding | NAS | 14970208 |
| GO:0005201 | extracellular matrix structural constituent | IMP | 7487954 |
| GO:0005515 | protein binding | IPI | 2839553 |
| GO:0046332 | SMAD binding | IEA | -- |
Phenotypes for COL3A1 Gene
- MGI mutant phenotypes for COL3A1:
-
inferred from 3 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- integument phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- liver/biliary system phenotype
- adipose tissue phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for COL3A1:
Animal Models for COL3A1 Gene
- MGI Knock Outs for COL3A1:
-
- Col3a1 Col3a1<tm1Jae>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for COL3A1
-
CRISPR Products
-
OriGene CRISPR knockouts for COL3A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL3A1
- genomics-online: gRNA clones - Search results for 89 available COL3A1 gene related products
- Overview of 89 available COL3A1 gene related products
- Applied Biological Materials CRISPR for COL3A1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL3A1
- GenScript: Design CRISPR guide RNA sequences for COL3A1
miRNA for COL3A1 Gene
- miRTarBase miRNAs that target COL3A1
-
- hsa-mir-29c-3p (MIRT000927)
- hsa-mir-29b-3p (MIRT005567)
- hsa-mir-335-5p (MIRT018299)
- hsa-mir-29a-3p (MIRT028683)
- hsa-mir-455-3p (MIRT037808)
- hsa-let-7b-5p (MIRT054120)
- hsa-mir-767-5p (MIRT437563)
- hsa-mir-143-3p (MIRT438362)
- hsa-mir-29b-1-5p (MIRT734149)
- hsa-let-7d-5p (MIRT734638)
- hsa-mir-29a-5p (MIRT734764)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL3A1
- Browse OriGene Inhibitory RNA Products For COL3A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL3A1
- genomics-online: shRNA clones - Search results for 89 available COL3A1 gene related products
- Overview of 89 available COL3A1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for COL3A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL3A1
- Applied Biological Materials Clones for COL3A1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for COL3A1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL3A1 Gene
Localization for COL3A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for COL3A1 Gene
- Secreted, extracellular space, extracellular matrix.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| nucleus | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS,IDA | -- |
| GO:0005581 | collagen trimer | IEA | -- |
| GO:0005586 | collagen type III trimer | NAS,IDA | 1672129 |
| GO:0005615 | extracellular space | NAS | 9036918 |
| GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for COL3A1 Gene
Pathways & Interactions for COL3A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Collagen chain trimerization | ||
| 2 | Integrin Pathway |
.67
.67
.56
|
.56
|
| 3 | ERK Signaling |
.61
.58
|
.49
|
| 4 | Phospholipase-C Pathway |
.56
|
|
| 5 | Binding and Uptake of Ligands by Scavenger Receptors | ||
Pathways by source for COL3A1 Gene
5 BioSystems pathways for COL3A1 Gene
8 Reactome pathways for COL3A1 Gene
1 PharmGKB pathway for COL3A1 Gene
5 KEGG pathways for COL3A1 Gene
1 GeneGo (Thomson Reuters) pathway for COL3A1 Gene
1 R&D Systems pathway for COL3A1 Gene
15 Qiagen pathways for COL3A1 Gene
Interacting Proteins for COL3A1 Gene
Selected Interacting proteins:
ENSP00000304408
P02461-CO3A1_HUMAN
for COL3A1 Gene via
STRING
UniProtKB
IID
GPS-Prot Interaction Network for COL3A1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001501 | skeletal system development | IEA | -- |
| GO:0001568 | blood vessel development | IEA | -- |
| GO:0007160 | cell-matrix adhesion | IDA | 16912226 |
| GO:0007179 | transforming growth factor beta receptor signaling pathway | IDA | 16360482 |
| GO:0007229 | integrin-mediated signaling pathway | IMP | 14970208 |
No data available for SIGNOR curated interactions for COL3A1 Gene
Drugs & Compounds for COL3A1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Collagenase | Approved, Investigational | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
Transcripts for COL3A1 Gene
mRNA/cDNA for COL3A1 Gene
- (1) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (1770) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000304636 5543 bps (uc002uqj.2)
- ENST00000470167 628 bps (uc061qnu.1)
- ENST00000450867 268 bps (uc061qnw.1)
- ENST00000467886 226 bps (uc061qnx.1)
- ENST00000487010 2054 bps (uc061qny.1)
Unigene Clusters for COL3A1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for COL3A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL3A1
- genomics-online: gRNA clones - Search results for 89 available COL3A1 gene related products
- Overview of 89 available COL3A1 gene related products
- Applied Biological Materials CRISPR for COL3A1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL3A1
- GenScript: Design CRISPR guide RNA sequences for COL3A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL3A1
- Browse OriGene Inhibitory RNA Products For COL3A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL3A1
- genomics-online: shRNA clones - Search results for 89 available COL3A1 gene related products
- Overview of 89 available COL3A1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for COL3A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL3A1
- Applied Biological Materials Clones for COL3A1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37a | · | 37b | ^ | 38a | · | 38b | ^ | 39 | ^ | 40 | ^ | 41 | ^ | 42 | ^ | 43 | ^ | 44 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 45 | ^ | 46 | ^ | 47 | ^ | 48a | · | 48b | · | 48c | ^ | 49 | ^ | 50a | · | 50b | ^ | 51a | · | 51b | ^ | 52a | · | 52b | · | 52c | · | 52d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | ||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | |||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||
| SP8: |
Expression for COL3A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Limb (Muscoskeletal System)
- Central Intermediate Lamina Cells Autopod Synovial Joint
- Interzone Cells Autopod Synovial Joint
- Central Intermediate Lamina Cells Zeugopod Synovial Joint
- Interzone Cells Stylopod Synovial Joint
- Interzone Cells Zeugopod Synovial Joint
-
Cartilage (Muscoskeletal System)
- Central Intermediate Lamina Cells Autopod Synovial Joint
- Interzone Cells Autopod Synovial Joint
- Central Intermediate Lamina Cells Zeugopod Synovial Joint
- Interzone Cells Stylopod Synovial Joint
- Interzone Cells Zeugopod Synovial Joint
-
Bone (Muscoskeletal System)
- Presumptive Suture Cells Rostral Sutures
- Suture Cells Facial Sutures
- Suture Cells Rostral Sutures
- Presumptive Suture Cells Facial Sutures
-
Dermis (Integumentary System)
- Dermal Fibroblasts Ventral Dermis
- Dermal Fibroblasts Cranial Dermis
- Dermal Fibroblasts Dorsal Dermis
-
Fibroblasts
- Dermal Fibroblasts Ventral Dermis
- Dermal Fibroblasts Cranial Dermis
- Dermal Fibroblasts Dorsal Dermis
This gene is overexpressed in Lung (12.7), Gallbladder (11.0), and Urinary Bladder (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COL3A1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of COL3A1 Gene:
COL3A1SOURCE GeneReport for Unigene cluster for COL3A1 Gene:
Hs.443625Evidence on tissue expression from TISSUES for COL3A1 Gene
- Skin(4.8)
- Pancreas(4.6)
- Bone(4.5)
- Liver(4.4)
- Lung(4.4)
- Eye(4.3)
- Intestine(4.3)
- Heart(4.2)
- Nervous system(4)
- Stomach(3.8)
- Muscle(3.2)
- Gall bladder(3)
- Kidney(2.9)
- Thyroid gland(2.1)
- Spleen(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for COL3A1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- chin
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- outer ear
- pharynx
- scalp
- skull
- tooth
Thorax:
- aorta
- bronchus
- chest wall
- clavicle
- diaphragm
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
- trachea
Abdomen:
- abdominal wall
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- stomach
Pelvis:
- pelvis
- rectum
- testicle
- ureter
- urethra
- urinary bladder
- uterus
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- coagulation system
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for COL3A1
-
OriGene qPCR primer pairs and template standards for COL3A1
- genomics-online: primer clones - Search results for 89 available COL3A1 gene related products
- Overview of 89 available COL3A1 gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for COL3A1 Gene
Orthologs for COL3A1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | COL3A1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | COL3A1 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | COL3A1 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Col3a1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Col3a1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | COL3A1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | COL3A1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | COL3A1 33 |
|
||
| -- 34 |
|
ManyToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | COL3A1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | col3a1 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Cg25C 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.7880 34 |
|
OneToMany |
- Species where no ortholog for COL3A1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Evolution for COL3A1 Gene
- ENSEMBL:
- Gene Tree for COL3A1 (if available)
- TreeFam:
- Gene Tree for COL3A1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for COL3A1: view image
Paralogs for COL3A1 Gene
Paralogs for COL3A1 Gene
(17) SIMAP similar genes for COL3A1 Gene using alignment to 10 proteins:
- CO3A1_HUMAN
- D2JYH5_HUMAN
- E7ENY8_HUMAN
- H7C435_HUMAN
- R4N3C5_HUMAN
- V9GZG2_HUMAN
- V9GZI1_HUMAN
- V9GZL2_HUMAN
- V9GZM1_HUMAN
- V9GZS3_HUMAN
Variants for COL3A1 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1001748912 | uncertain-significance, Ehlers-Danlos syndrome, type 4 | 188,995,086(+) | T/C | coding_sequence_variant, missense_variant | |
| rs10166835 | benign, conflicting-interpretations-of-pathogenicity, not specified, Ehlers-Danlos syndrome, type 4 | 188,988,582(+) | C/T | intron_variant | |
| rs1039226542 | uncertain-significance, Ehlers-Danlos syndrome, type 4, not specified | 188,997,340(+) | C/T | coding_sequence_variant, missense_variant | |
| rs1045040851 | likely-benign, Ehlers-Danlos syndrome, type 4 | 189,007,589(+) | A/G | coding_sequence_variant, synonymous_variant | |
| rs1057519250 | uncertain-significance, Ehlers-Danlos syndrome, type 4 | 188,994,274(+) | C/A/T | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv7233n54 | CNV | loss | 21841781 |
| dgv7234n54 | CNV | loss | 21841781 |
| esv1030122 | CNV | deletion | 17803354 |
| esv2203663 | CNV | deletion | 18987734 |
| esv2721255 | CNV | deletion | 23290073 |
| esv2721256 | CNV | deletion | 23290073 |
| esv2721257 | CNV | deletion | 23290073 |
| esv3360634 | CNV | insertion | 20981092 |
| esv3371950 | CNV | insertion | 20981092 |
| esv3893522 | CNV | loss | 25118596 |
| esv990670 | CNV | deletion | 20482838 |
| esv993048 | CNV | deletion | 20482838 |
| nsv1114155 | CNV | deletion | 24896259 |
| nsv459992 | CNV | loss | 19166990 |
| nsv834490 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
7.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
8.78;
86.75% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for COL3A1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL3A1 Gene
Disorders for COL3A1 Gene
(26) MalaCards diseases for COL3A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ehlers-danlos syndrome, vascular type |
|
|
| acrogeria, gottron type |
|
|
| ehlers-danlos syndrome, hypermobility type |
|
|
| ehlers-danlos syndrome |
|
|
| seizure disorder |
|
|
Search COL3A1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CO3A1_HUMAN- Ehlers-Danlos syndrome 3 (EDS3) [MIM:130020]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. It is a form of Ehlers-Danlos syndrome characterized by marked joint hyperextensibility without skeletal deformity. {ECO:0000269 PubMed:7833919}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050]: The most severe form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Characterized by the joint and dermal manifestations as in other forms of the syndrome, characteristic facial features (acrogeria) in most patients, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas. {ECO:0000269 PubMed:10706896, ECO:0000269 PubMed:10923041, ECO:0000269 PubMed:11168790, ECO:0000269 PubMed:12694234, ECO:0000269 PubMed:12786757, ECO:0000269 PubMed:1352273, ECO:0000269 PubMed:1357232, ECO:0000269 PubMed:1370809, ECO:0000269 PubMed:1496983, ECO:0000269 PubMed:1895316, ECO:0000269 PubMed:2243125, ECO:0000269 PubMed:2349939, ECO:0000269 PubMed:2492273, ECO:0000269 PubMed:2808425, ECO:0000269 PubMed:7749417, ECO:0000269 PubMed:7912131, ECO:0000269 PubMed:8019562, ECO:0000269 PubMed:8098182, ECO:0000269 PubMed:8411057, ECO:0000269 PubMed:8514866, ECO:0000269 PubMed:8664902, ECO:0000269 PubMed:8680408, ECO:0000269 PubMed:8884076, ECO:0000269 PubMed:8990011, ECO:0000269 PubMed:9036918, ECO:0000269 PubMed:9147870, ECO:0000269 PubMed:9452103, ECO:0000269 Ref.46, ECO:0000269 Ref.51}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for COL3A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for COL3A1 Gene
Publications for COL3A1 Gene
- The relationship between COL3A1 exon 31 polymorphism and pelvic organ prolapse. (PMID: 19152942) Jeon MJ … Bai SW (The Journal of urology 2009) 3 22 44 58
- Collagen type III alpha I is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus hernia. (PMID: 19398442) Asling B … Lagerström-Fermer M (Gut 2009) 3 22 44 58
- Collagen type 3 alpha 1 polymorphism and risk of pelvic organ prolapse. (PMID: 18722615) Chen HY … Tsai CH (International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2008) 3 22 44 58
- [Correlation of COL3A1 gene with type III collagen stability in intracranial aneurysm]. (PMID: 18642782) Hua T … Zhao JZ (Zhonghua yi xue za zhi 2008) 3 22 44 58
- Genetic association between functional haplotype of collagen type III alpha 1 and chronic hepatitis B and cirrhosis in Koreans. (PMID: 19000145) Lee SK … Kwack K (Tissue antigens 2008) 3 22 44 58
Products for COL3A1 Gene
- Browse R&D Systems for Antibodies
- R&D Systems Proteins and Enzymes for COL3A1 (Collagen III alpha 1/COL3A1)
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- Custom Antibody ServicesOriGene Antibodies for COL3A1
- Browse OriGene ELISA Kits
- Custom Assay Services
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL3A1
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- OriGene qPCR primer pairs and template standards for COL3A1
- OriGene CRISPR knockouts for COL3A1
- OriGene ORF clones in human for COL3A1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For COL3A1
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- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
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- Sino Biological Human cDNA Clone for COL3A1
- Browse Sino Biological Recombinant Proteins
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- Browse cDNA Clones
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for COL3A1
- Novus Biologicals proteins for COL3A1
- Novus Biologicals ELISA Kits for COL3A1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
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- Browse ELISA Kits
- Abcam antibodies for COL3A1
- Abcam proteins for COL3A1
- Find your target
- Browse Primary Antibodies
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- ProSpec Recombinant Proteins for COL3A1
- Invitrogen Antibodies for COL3A1 (AFLGC-COL3A1)
- Cyagen custom Knockout/knockin (KOKI) mouse models for COL3A1
- antibodies-online: Search results for 149 available COL3A1 Antibodies ranked by validation data
- Compare Top COL3A1 Antibodies
- Recommended
- 104 WB Antibodies (anti-human)
- 2 RIA Antibodies (anti-human)
- 1 IHC (fro) Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 38 WB Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 53 WB Antibodies (anti-rat)
- 3 IF Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- antibodies-online: Search results for 42 available COL3A1 Elisa Kits ranked by validation data
- Compare Top COL3A1 Elisa Kits
- antibodies-online: Search results for 15 available COL3A1 Proteins ranked by validation data
- Compare Top COL3A1 Proteins
- GeneTex COL3A1 Antibody for COL3A1
- Search GeneTex for Proteins for COL3A1
- Santa Cruz Biotechnology (SCBT) Antibodies for COL3A1
- Search Santa Cruz Biotechnology (SCBT) for COL3A1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for COL3A1
- Search for COL3A1 Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for COL3A1
- Horizon Cell Lines for COL3A1
- genomics-online: cdna clones - Search results for 89 available COL3A1 gene related products
- Overview of 89 available COL3A1 gene related products
- orf clones - Search results for 89 available COL3A1 gene related products
- Overview of 89 available COL3A1 gene related products
- genomics-online: gRNA clones - Search results for 89 available COL3A1 gene related products
- Overview of 89 available COL3A1 gene related products
- genomics-online: primer clones - Search results for 89 available COL3A1 gene related products
- Overview of 89 available COL3A1 gene related products
- genomics-online: shRNA clones - Search results for 89 available COL3A1 gene related products
- Overview of 89 available COL3A1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL3A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL3A1
- GeneCopoeia miRNA 3'UTR Target clone products for COL3A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL3A1
Sources for COL3A1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt