Aliases for COL5A1 Gene
Aliases for COL5A1 Gene
External Ids for COL5A1 Gene
- HGNC: 2209
- Entrez Gene: 1289
- Ensembl: ENSG00000130635
- OMIM: 120215
- UniProtKB: P20908
Previous GeneCards Identifiers for COL5A1 Gene
- GC09P128683
- GC09P129302
- GC09P131056
- GC09P132972
- GC09P134759
- GC09P136673
- GC09P137533
- GC09P106996
Summaries for COL5A1 Gene
-
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. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
GeneCards Summary for COL5A1 Gene
COL5A1 (Collagen Type V Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL5A1 include Ehlers-Danlos Syndrome, Classic Type and Ehlers-Danlos Syndrome Type Ii. Among its related pathways are Collagen chain trimerization and Phospholipase-C Pathway. GO annotations related to this gene include heparin binding and extracellular matrix structural constituent. An important paralog of this gene is COL11A1.
UniProtKB/Swiss-Prot for COL5A1 Gene
-
Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL5A1 Gene
Genomics for COL5A1 Gene
Regulatory Elements for COL5A1 Gene
Enhancers for COL5A1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around COL5A1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the COL5A1 gene promoter:
Regulatory Element Products
Genomic Location for COL5A1 Gene
- Chromosome:
- 9
- Start:
- 134,641,774 bp from pter
- End:
- 134,844,843 bp from pter
- Size:
- 203,070 bases
- Orientation:
- Plus strand
Genomic View for COL5A1 Gene
Genes around COL5A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q34.3 by Ensembl
- 9q34.3 by Entrez Gene
- 9q34.3 by HGNC
COL5A1 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 COL5A1 Gene
Proteins for COL5A1 Gene
-
Protein details for COL5A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P20908-CO5A1_HUMAN
- Recommended name:
- Collagen alpha-1(V) chain
- Protein Accession:
- P20908
- Q15094
- Q5SUX4
Protein attributes for COL5A1 Gene
- Size:
- 1838 amino acids
- Molecular mass:
- 183560 Da
- Quaternary structure:
-
- Trimers of two alpha 1(V) and one alpha 2(V) chains in most tissues and trimers of one alpha 1(V), one alpha 2(V), and one alpha 3(V) chains in placenta. Interacts with CSPG4.
Protein Expression for COL5A1 Gene
Selected DME Specific Peptides for COL5A1 Gene
- P20908:
-
- KSEGARI
- VDAEGNPV
Post-translational modifications for COL5A1 Gene
- Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
- Sulfated on 40% of tyrosines.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for COL5A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for COL5A1
-
Custom Antibody ServicesOriGene Antibodies for COL5A1
- Novus Biologicals Antibodies for COL5A1
- Invitrogen Antibodies for COL5A1
- antibodies-online Antibodies for COL5A1: See all 45
- GeneTex COL5A1 antibody for COL5A1
-
Santa Cruz Biotechnology (SCBT) Antibodies for COL5A1
Protein Products
- EMD Millipore Purified and/or Recombinant COL5A1 Protein
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for COL5A1
- Origene Custom Protein Services for COL5A1
- Novus Biologicals proteins for COL5A1
- Search GeneTex for Proteins for COL5A1
Assay Products
- antibodies-online Kits for COL5A1: See all 13
Domains & Families for COL5A1 Gene
Gene Families for COL5A1 Gene
- HGNC:
Protein Domains for COL5A1 Gene
Suggested Antigen Peptide Sequences for COL5A1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P20908UniProtKB/Swiss-Prot:
CO5A1_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 (By similarity).
- 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 (By similarity).
- Family:
-
- Belongs to the fibrillar collagen family.
Function for COL5A1 Gene
Molecular function for COL5A1 Gene
- GENATLAS Biochemistry:
- collagen type V,alpha 1,fibril forming,incorporated into,and contributing to regulate the shape and diameter of type I collagen fibrils;cleaved by BMP1 within the large globular N-propeptide
- UniProtKB/Swiss-Prot Function:
- Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.
Enzyme Numbers (IUBMB) for COL5A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005178 | integrin binding | NAS | 14970208 |
| GO:0005201 | extracellular matrix structural constituent | IEA | -- |
| GO:0008201 | heparin binding | IDA,IEA | 2203476 |
| GO:0043394 | proteoglycan binding | IPI | 9099729 |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for COL5A1 Gene
- MGI mutant phenotypes for COL5A1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for COL5A1:
Animal Models for COL5A1 Gene
- MGI Knock Outs for COL5A1:
-
- Col5a1 tm1Rjw
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for COL5A1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for COL5A1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for COL5A1 gene
- Search ViGene Biosciences for COL5A1
CRISPR Products
-
OriGene CRISPR knockouts for COL5A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL5A1
- GenScript: Design CRISPR guide RNA sequences for COL5A1
miRNA for COL5A1 Gene
- miRTarBase miRNAs that target COL5A1
-
- hsa-mir-26b-5p (MIRT029467)
- hsa-mir-744-5p (MIRT037642)
- hsa-mir-145-5p (MIRT053211)
- hsa-mir-143-3p (MIRT053642)
- hsa-mir-543 (MIRT440916)
- hsa-mir-6780a-5p (MIRT479001)
- hsa-mir-6779-5p (MIRT479002)
- hsa-mir-3689c (MIRT479003)
- hsa-mir-3689b-3p (MIRT479004)
- hsa-mir-3689a-3p (MIRT479005)
- hsa-mir-30b-3p (MIRT479006)
- hsa-mir-1273h-5p (MIRT479007)
- hsa-mir-6778-5p (MIRT479008)
- hsa-mir-6825-5p (MIRT479009)
- hsa-mir-1233-5p (MIRT479010)
- hsa-mir-6799-5p (MIRT479011)
- hsa-mir-6883-5p (MIRT479012)
- hsa-mir-6785-5p (MIRT479013)
- hsa-mir-4728-5p (MIRT479014)
- hsa-mir-149-3p (MIRT479015)
- hsa-mir-6878-5p (MIRT479016)
- hsa-mir-7106-5p (MIRT479017)
- hsa-mir-5703 (MIRT479018)
- hsa-mir-4516 (MIRT479019)
- hsa-mir-4434 (MIRT479020)
- hsa-mir-3934-5p (MIRT479021)
- hsa-mir-764 (MIRT479022)
- hsa-mir-125a-3p (MIRT479023)
- hsa-mir-6760-5p (MIRT479025)
miRNA Products
- Search ViGene Biosciences for COL5A1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for COL5A1
- Browse OriGene Inhibitory RNA Products For COL5A1
-
ViGene Biosciences ready-to-package AAV shRNAs for COL5A1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for COL5A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL5A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for COL5A1
-
ViGene Biosciences adenoviral particle packaged cDNA for COL5A1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for COL5A1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for COL5A1 gene
Flow Cytometry Products
No data available for Transcription Factor Targets and HOMER Transcription for COL5A1 Gene
Localization for COL5A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for COL5A1 Gene
- Secreted, extracellular space, extracellular matrix.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| plasma membrane | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| cytosol | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005578 | proteinaceous extracellular matrix | IEA | -- |
| GO:0005581 | collagen trimer | IEA | -- |
| GO:0005588 | collagen type V trimer | IMP | 9683580 |
| GO:0005604 | basement membrane | IEA | -- |
Pathways & Interactions for COL5A1 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 | Degradation of the extracellular matrix | ||
Pathways by source for COL5A1 Gene
3 BioSystems pathways for COL5A1 Gene
1 KEGG pathway for COL5A1 Gene
15 Qiagen pathways for COL5A1 Gene
Interacting Proteins for COL5A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001568 | blood vessel development | IEA | -- |
| GO:0003007 | heart morphogenesis | IEA | -- |
| GO:0007155 | cell adhesion | IMP | 18305566 |
| GO:0016477 | cell migration | IMP | 18305566 |
| GO:0030198 | extracellular matrix organization | TAS | -- |
No data available for SIGNOR curated interactions for COL5A1 Gene
Transcripts for COL5A1 Gene
mRNA/cDNA for COL5A1 Gene
- (3) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (436) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for COL5A1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for COL5A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL5A1
- GenScript: Design CRISPR guide RNA sequences for COL5A1
miRNA Products
- Search ViGene Biosciences for COL5A1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for COL5A1
- Browse OriGene Inhibitory RNA Products For COL5A1
-
ViGene Biosciences ready-to-package AAV shRNAs for COL5A1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for COL5A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL5A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
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| SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP13: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: |
| ExUns: | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | · | 29c | · | 29d | ^ | 30a | · | 30b | · | 30c | ^ | 31 | ^ | 32a | · | 32b | ^ | 33 | ^ | 34a | · | 34b | · | 34c | · | 34d | ^ | 35a | · | 35b | · | 35c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP15: |
Expression for COL5A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Tendon & Ligament (Muscoskeletal System)
- Tenocytes Limb Tendons and Ligaments
- Early Tenocyte Cells Axial Tendon Primordia
- Tenocytes Axial Tendons and Ligamnets
- Early Tenocyte Cells Limb Tendon Primordia
-
Gonad
- Primordial Germ Cell Precursors Epiblast
- Primordial Germ Cells Allantois
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
-
Epiblast (Early Embryonic Tissues)
- Primordial Germ Cell Precursors Epiblast
-
Heart (Cardiovascular System)
- Subepicardial Cells Epicardium
-
Adipose (Muscoskeletal System)
- Visceral White Adipocytes Visceral White Adipose
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Endothelium (Cardiovascular System)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Placenta (Extraembryonic Tissues)
- Primordial Germ Cells Allantois
-
Epidermis (Integumentary System)
- Basal Keratinocytes Embryonic Epidermis
-
Epithelial Cells
- Basal Keratinocytes Embryonic Epidermis
-
Hair
- Basal Keratinocytes Embryonic Epidermis
- Eye (Sensory Organs)
- Dermis (Integumentary System)
- Fibroblasts
- Liver (Hepatobiliary System)
- Primitive Streak (Early Embryonic Tissues)
-
Uterus (Reproductive System)
-
Smooth Muscle (Muscoskeletal System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Bone (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for COL5A1 Gene
This gene is overexpressed in Uterus (x4.2) and Cervix - Ectocervix (x4.0).
This gene is overexpressed in Amniocyte (29.6), Bone marrow mesenchymal stem cell (16.9), and Bone marrow stromal cell (11.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COL5A1 Gene
NURSA nuclear receptor signaling pathways regulating expression of COL5A1 Gene:
COL5A1SOURCE GeneReport for Unigene cluster for COL5A1 Gene:
Hs.210283Evidence on tissue expression from TISSUES for COL5A1 Gene
- Eye(2.9)
- Nervous system(2.9)
- Skin(2.8)
- Pancreas(2.7)
- Bone(2.5)
- Lung(2.5)
- Muscle(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for COL5A1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- mouth
- neck
- outer ear
- scalp
- skull
- tooth
Thorax:
- aorta
- bronchus
- chest wall
- clavicle
- diaphragm
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
- trachea
Abdomen:
- abdominal wall
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- stomach
Pelvis:
- pelvis
- 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 COL5A1
No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for COL5A1 Gene
Orthologs for COL5A1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| oppossum (Monodelphis domestica) |
Mammalia | COL5A1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | COL5A1 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | COL5A1 35 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Col5a1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Col5a1 34 16 35 |
|
||
| cow (Bos Taurus) |
Mammalia | COL5A1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | COL5A1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | COL5A1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | col5a1 34 |
|
||
| Str.15319 34 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | col5a1 34 35 |
|
||
| Dr.17775 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12219 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for COL5A1 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)
- chimpanzee (Pan troglodytes)
- 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)
- fruit fly (Drosophila melanogaster)
- 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)
- 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)
Paralogs for COL5A1 Gene
Paralogs for COL5A1 Gene
(12) SIMAP similar genes for COL5A1 Gene using alignment to 5 proteins:
Variants for COL5A1 Gene
| SNP ID | Clin | Chr 09 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs61735045 | Pathogenic, Ehlers-Danlos syndrome, classic type (EDS) [MIM:130000] | 134,750,808(+) | GTGGC(A/G)GCGAT | nc-transcript-variant, reference, missense | |
| rs80338764 | Pathogenic, Ehlers-Danlos syndrome, classic type (EDS) [MIM:130000] | 134,824,817(+) | CACCT(C/G)CAAGG | intron-variant, nc-transcript-variant, reference, missense | |
| VAR_015413 | Ehlers-Danlos syndrome, classic type (EDS) [MIM:130000] | ||||
| VAR_057902 | Ehlers-Danlos syndrome, classic type (EDS) [MIM:130000] | ||||
| VAR_057903 | Ehlers-Danlos syndrome, classic type (EDS) [MIM:130000] |
Residual Variation Intolerance Score:
2.55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.73;
73.26% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for COL5A1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL5A1 Gene
Disorders for COL5A1 Gene
(23) MalaCards diseases for COL5A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ehlers-danlos syndrome, classic type |
|
|
| ehlers-danlos syndrome type ii |
|
|
| type i ehlers-danlos syndrome |
|
|
| ehlers-danlos syndrome, type iv |
|
|
| ehlers-danlos syndrome, classic type, col5a1-related |
|
|
Search COL5A1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CO5A1_HUMAN- Ehlers-Danlos syndrome, classic type (EDS) [MIM:130000]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. {ECO:0000269 PubMed:10602121, ECO:0000269 PubMed:11992482, ECO:0000269 PubMed:15580559, ECO:0000269 PubMed:18972565, ECO:0000269 PubMed:9042913}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for COL5A1
No data available for Genatlas for COL5A1 Gene
Publications for COL5A1 Gene
- Investigation of the Sp1-binding site polymorphism within the COL1A1 gene in participants with Achilles tendon injuries and controls. (PMID: 18353721) Posthumus M. … Collins M. (J Sci Med Sport 2009) 3 22 46 64
- Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations. (PMID: 18443036) September A.V. … Collins M. (Br J Sports Med 2009) 3 22 46 64
- COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. (PMID: 18972565) Symoens S. … De Paepe A. (Hum. Mutat. 2009) 3 4 22 64
- Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene. (PMID: 19042922) Raleigh S.M. … Collins M. (Br J Sports Med 2009) 3 22 46 64
- The COL5A1 gene is associated with increased risk of anterior cruciate ligament ruptures in female participants. (PMID: 19654427) Posthumus M. … Collins M. (Am J Sports Med 2009) 3 22 46 64
Products for COL5A1 Gene
- Browse Small Molecules at EMD Millipore
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for COL5A1
- EMD Millipore Purified and/or Recombinant COL5A1 Protein
- Browse Kits and Assays available from EMD Millipore
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- Custom Antibody ServicesOriGene Antibodies for COL5A1
- Browse OriGene ELISA Kits
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- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for COL5A1
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- Novus Biologicals Antibodies for COL5A1
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- Invitrogen Antibodies for COL5A1
- antibodies-online Antibodies for COL5A1: See all 45
- antibodies-online Kits for COL5A1: See all 13
- Search antibodies-online for proteins
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- GeneTex COL5A1 antibody for COL5A1
- Search GeneTex for Proteins for COL5A1
- ViGene Biosciences adenoviral particle packaged cDNA for COL5A1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for COL5A1 gene
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- Santa Cruz Biotechnology (SCBT) Antibodies for COL5A1
- Search Santa Cruz Biotechnology (SCBT) for COL5A1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for COL5A1
- Horizon Cell Lines for COL5A1
- Cyagen custom Knockout/knockin (KOKI) mouse models for COL5A1
- VectorBuilder custom plasmid, inducible vectors for COL5A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL5A1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for COL5A1 Gene
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