Free for academic non-profit institutions. Other users need a Commercial license
The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and al... See more...
Aliases for COL6A1 Gene
Aliases for COL6A1 Gene
External Ids for COL6A1 Gene
- HGNC: 2211
- Entrez Gene: 1291
- Ensembl: ENSG00000142156
- OMIM: 120220
- UniProtKB: P12109
Previous GeneCards Identifiers for COL6A1 Gene
- GC21P043908
- GC21P046259
- GC21P046260
- GC21P046261
- GC21P046226
- GC21P047401
- GC21P032782
Summaries for COL6A1 Gene
-
The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]
GeneCards Summary for COL6A1 Gene
COL6A1 (Collagen Type VI Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL6A1 include Ullrich Congenital Muscular Dystrophy 1 and Bethlem Myopathy 1. Among its related pathways are Integrin Pathway and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include platelet-derived growth factor binding. An important paralog of this gene is COL5A1.
UniProtKB/Swiss-Prot Summary for COL6A1 Gene
-
Collagen VI acts as a cell-binding protein.
Additional gene information for COL6A1 Gene
- HGNC(2211)
- Entrez Gene(1291)
- Ensembl(ENSG00000142156)
- OMIM(120220)
- UniProtKB(P12109)
- Open Targets Platform(ENSG00000142156)
- Monarch Initiative
- Search for COL6A1 at DataMed
- Search for COL6A1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL6A1 Gene
Genomics for COL6A1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for COL6A1 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 COL6A1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL6A1
- Top Transcription factor binding sites by QIAGEN in the COL6A1 gene promoter:
-
- AML1a
- AP-1
- ATF-2
- c-Jun
- c-Myc
- Ik-1
- Max1
- NF-kappaB
- NF-kappaB1
- RelA
Genomic Locations for COL6A1 Gene
Genomic Locations for COL6A1 Gene
- chr21:45,981,769-46,005,050
- (GRCh38/hg38)
- Size:
- 23,282 bases
- Orientation:
- Plus strand
- chr21:47,401,651-47,424,964
- (GRCh37/hg19)
- Size:
- 23,314 bases
- Orientation:
- Plus strand
Genomic View for COL6A1 Gene
Genes around COL6A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.3 by HGNC
- 21q22.3 by Entrez Gene
- 21q22.3 by Ensembl
COL6A1 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 COL6A1 Gene
Proteins for COL6A1 Gene
-
Protein details for COL6A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P12109-CO6A1_HUMAN
- Recommended name:
- Collagen alpha-1(VI) chain
- Protein Accession:
- P12109
- O00117
- O00118
- Q14040
- Q14041
- Q16258
- Q7Z645
- Q9BSA8
Protein attributes for COL6A1 Gene
- Size:
- 1028 amino acids
- Molecular mass:
- 108529 Da
- Quaternary structure:
-
- Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI).
Protein Expression for COL6A1 Gene
Post-translational modifications for COL6A1 Gene
Other Protein References for COL6A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ Collagen Type VI Antibody
- SouthernBiotech Goat Anti-Type VI Collagen-UNLB and Goat Anti-Type VI Collagen-BIOT
-
Custom Antibody ServicesOriGene Antibodies for COL6A1
- Novus Biologicals Antibodies for COL6A1
- Invitrogen Antibodies for COL6A1 (AFLGC-COL6A1)
- antibodies-online: Show 24 available COL6A1 Antibodies ranked by validation data
- Compare Top COL6A1 Antibodies
-
Recommended
- 46 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 28 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 13 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for COL6A1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for COL6A1
- Origene Custom Protein Services for COL6A1
Assay Products
- G Biosciences Immunotag™ Human COL6a1 (Collagen Type VI Alpha 1) ELISA
- Novus Biologicals ELISA Kits for COL6A1
No data available for DME Specific Peptides for COL6A1 Gene
Domains & Families for COL6A1 Gene
Gene Families for COL6A1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Plasma proteins
- Predicted secreted proteins
Protein Domains for COL6A1 Gene
- InterPro:
- Blocks:
-
- Collagen triple helix repeat
- Collagen helix repeat
- Von Willebrand factor type A domain signature
- ProtoNet:
Suggested Antigen Peptide Sequences for COL6A1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ61362, highly similar to Collagen alpha-1(VI) chain (B4DRR8_HUMAN)
- Collagen alpha-1(VI) chain (CO6A1_HUMAN)
- Collagen, type VI, alpha 1, isoform CRA_a (D3DSM7_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P12109- Family:
-
- Belongs to the type VI collagen family.
Function for COL6A1 Gene
Molecular function for COL6A1 Gene
- UniProtKB/Swiss-Prot Function:
- Collagen VI acts as a cell-binding protein.
- GENATLAS Biochemistry:
- collagen type VI,alpha 1 (150kDa),microfibrillar
Phenotypes From GWAS Catalog for COL6A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005518 | collagen binding | IPI | 18400749 |
| GO:0030020 | extracellular matrix structural constituent conferring tensile strength | RCA | 20551380 |
| GO:0048407 | platelet-derived growth factor binding | IDA | 8900172 |
Phenotypes for COL6A1 Gene
- MGI mutant phenotypes for COL6A1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for COL6A1:
Animal Models for COL6A1 Gene
- MGI Knock Outs for COL6A1:
-
- Col6a1 Col6a1<tm1Gmb>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for COL6A1 - Select products 50% OFF >
- * COL6A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for COL6A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL6A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL6A1
miRNA for COL6A1 Gene
- miRTarBase miRNAs that target COL6A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL6A1
- Browse OriGene Inhibitory RNA Products For COL6A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL6A1
Clone Products
- Applied Biological Materials (abm): Clones for COL6A1 - Select products 50% OFF >
- * COL6A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for COL6A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL6A1
Cell Line Products
- ESI BIO PureStem 7PEND24, NCr-fac & Meso-prx Progenitor and PureStem SK11, NCr-fac & Meso-prx Progenitor for COL6A1
-
Horizon Cell Lines for COL6A1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL6A1 Gene
Localization for COL6A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for COL6A1 Gene
- Secreted, extracellular space, extracellular matrix.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 4 |
| lysosome | 4 |
| plasma membrane | 3 |
| mitochondrion | 3 |
| cytosol | 3 |
| cytoskeleton | 2 |
| nucleus | 2 |
| peroxisome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | HDA,TAS | -- |
| GO:0005581 | collagen trimer | IEA | -- |
| GO:0005589 | collagen type VI trimer | NAS | 2551668 |
| GO:0005615 | extracellular space | IBA | 21873635 |
| GO:0005765 | lysosomal membrane | HDA | 17897319 |
Pathways & Interactions for COL6A1 Gene
| 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 | PI3K-Akt signaling pathway | ||
| 5 | Phospholipase-C Pathway |
Phospholipase-C Pathway
.56
|
PTEN Pathway
.56
|
Pathways by source for COL6A1 Gene
1 BioSystems pathway for COL6A1 Gene
11 Reactome pathways for COL6A1 Gene
5 KEGG pathways for COL6A1 Gene
15 Qiagen pathways for COL6A1 Gene
- Blood Coagulation Cascade
- ERK Signaling
- FAK1 Signaling
- GnRH Signaling
- ILK Signaling
Interacting Proteins for COL6A1 Gene
Selected Interacting proteins:
P12109-CO6A1_HUMAN
ENSP00000355180
for COL6A1 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for COL6A1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001649 | osteoblast differentiation | HDA | 16210410 |
| GO:0003429 | growth plate cartilage chondrocyte morphogenesis | IBA | -- |
| GO:0007155 | cell adhesion | IEA | -- |
| GO:0030198 | extracellular matrix organization | TAS | -- |
| GO:0035987 | endodermal cell differentiation | IEP | 23154389 |
No data available for SIGNOR curated interactions for COL6A1 Gene
Transcripts for COL6A1 Gene
mRNA/cDNA for COL6A1 Gene
- 1 REFSEQ mRNAs :
- 20 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000361866 4203 nts (view in UCSC)
- ENST00000492851 435 nts (view in UCSC)
- ENST00000466285 500 nts (view in UCSC)
- ENST00000463060 863 nts (view in UCSC)
- ENST00000498614 2358 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for COL6A1 - Select products 50% OFF >
- * COL6A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for COL6A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL6A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL6A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL6A1
- Browse OriGene Inhibitory RNA Products For COL6A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL6A1
Clone Products
- Applied Biological Materials (abm): Clones for COL6A1 - Select products 50% OFF >
- * COL6A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for COL6A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL6A1
Relevant External Links for COL6A1 Gene
- GeneLoc Exon Structure for
- COL6A1
Expression for COL6A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Cartilage (Muscoskeletal System)
- Neural Crest (Gastrulation Derivatives)
- Paraxial Mesoderm (Gastrulation Derivatives)
This gene is overexpressed in Adipocyte (16.2), Urinary Bladder (11.7), Bone marrow mesenchymal stem cell (8.0), and Colon muscle (7.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COL6A1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL6A1
SOURCE GeneReport for Unigene cluster for COL6A1 Gene:
Hs.474053Evidence on tissue expression from TISSUES for COL6A1 Gene
- Liver(4.6)
- Kidney(4.6)
- Lung(4.3)
- Bone(4.2)
- Nervous system(4)
- Heart(4)
- Skin(3.9)
- Intestine(3.5)
- Eye(3.3)
- Muscle(3.3)
- Pancreas(3)
- Gall bladder(2.6)
- Spleen(2.3)
- Lymph node(2.3)
- Blood(2.2)
- Stomach(2.1)
- Adrenal gland(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for COL6A1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cheek
- chin
- cranial nerve
- ear
- face
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- outer ear
- skull
Thorax:
- bronchus
- chest wall
- clavicle
- diaphragm
- heart
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- kidney
Pelvis:
- pelvis
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
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- sweat gland
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for COL6A1
-
OriGene qPCR primer pairs and template standards for COL6A1
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for COL6A1 Gene
Orthologs for COL6A1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | COL6A1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | COL6A1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | COL6A1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Col6a1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Col6a1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | COL6A1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | COL6A1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | COL6A1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | COL6A1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | col6a1 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | col6a1-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | col6a1 30 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | mec-5 31 |
|
OneToMany |
- Species where no ortholog for COL6A1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- 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)
Evolution for COL6A1 Gene
- ENSEMBL:
- Gene Tree for COL6A1 (if available)
- TreeFam:
- Gene Tree for COL6A1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for COL6A1: view image
Paralogs for COL6A1 Gene
Paralogs for COL6A1 Gene
- COL5A1 5
- COL11A1 5
- COL5A3 5
- COL3A1 5
- COL4A5 5
- COL11A2 5
- COL2A1 5
- COL1A1 5
- COL4A1 5
- COL4A6 5
- COL1A2 5
- COL4A2 5
- COL4A4 5
- COL4A3 5
- COL16A1 5
- COL27A1 5
- COL6A2 5
- COL7A1 5
- COL5A2 5
- COL24A1 5
- COL22A1 5
- COL18A1 5
- COL17A1 5
- COL28A1 5
- COL9A1 5
- COL15A1 5
- COL9A3 5
- COL20A1 5
- COL13A1 5
- COL25A1 5
- COL23A1 5
- COL21A1 5
- COLQ 5
- COL9A2 5
- EMID1 5
- COL26A1 5
- EDA 5
(7) SIMAP similar genes for COL6A1 Gene using alignment to 3 proteins:
- CO6A1_HUMAN
- D3DSM7_HUMAN
- Q05BT9_HUMAN
Variants for COL6A1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL6A1 Gene
| SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 17175 | Pathogenic: Ullrich congenital muscular dystrophy 1, autosomal dominant | 45,988,512(+) | GCCGTGCAGGGTGTGG | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
| 476408 | Uncertain Significance: Bethlem myopathy 1 | 45,991,017(+) | TG/CA | MISSENSE_VARIANT | |
| 639559 | Pathogenic: Bethlem myopathy 1 | 45,989,627(+) | G/A | MISSENSE_VARIANT | |
| 640152 | Uncertain Significance: Bethlem myopathy 1 | 45,984,416(+) | G/C | MISSENSE_VARIANT | |
| 641573 | Uncertain Significance: Bethlem myopathy 1 | 45,998,904(+) | A/G | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2416n106 | CNV | deletion | 24896259 |
| dgv254n21 | CNV | loss | 19592680 |
| dgv7919n54 | CNV | loss | 21841781 |
| dgv7920n54 | CNV | loss | 21841781 |
| esv1025241 | CNV | insertion | 17803354 |
| esv1396032 | CNV | insertion | 17803354 |
| esv1409667 | CNV | insertion | 17803354 |
| esv1561412 | CNV | insertion | 17803354 |
| esv2723849 | CNV | deletion | 23290073 |
| esv2723851 | CNV | deletion | 23290073 |
| esv2723852 | CNV | deletion | 23290073 |
| esv2723853 | CNV | deletion | 23290073 |
| esv3557859 | CNV | deletion | 23714750 |
| nsv1109448 | CNV | deletion | 24896259 |
| nsv1126010 | CNV | deletion | 24896259 |
| nsv1129227 | CNV | insertion | 24896259 |
| nsv470910 | CNV | gain | 18288195 |
| nsv509804 | CNV | insertion | 20534489 |
| nsv513579 | CNV | insertion | 21212237 |
| nsv587930 | CNV | loss | 21841781 |
| nsv587933 | CNV | loss | 21841781 |
| nsv587934 | CNV | loss | 21841781 |
| nsv587935 | CNV | gain | 21841781 |
| nsv953657 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
94.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
13.20;
95.21% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for COL6A1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL6A1 Gene
Disorders for COL6A1 Gene
(18) MalaCards diseases for COL6A1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ullrich congenital muscular dystrophy 1 |
|
|
| bethlem myopathy 1 |
|
|
| myopathy |
|
|
| collagen vi-related myopathy |
|
|
| diffuse idiopathic skeletal hyperostosis |
|
|
Search COL6A1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CO6A1_HUMAN- Bethlem myopathy 1 (BTHLM1) [MIM:158810]: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. {ECO:0000269 PubMed:11865138, ECO:0000269 PubMed:15689448, ECO:0000269 PubMed:15955946, ECO:0000269 PubMed:8782832}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]: A congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. {ECO:0000269 PubMed:15689448, ECO:0000269 PubMed:16130093, ECO:0000269 PubMed:17785674}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Note=A mutation in COL6A1 is the cause of autosomal recessive limb-girdle muscular dystrophy. The affected individual with a homozygous recessive COL6A1 mutation showed progressive muscle weakness with an onset at the age of 4 years and loss of ambulation at the age of 15 years. Muscle biopsy showed end stage dystrophy. {ECO:0000269 PubMed:30345904}.
Additional Disease Information for COL6A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for COL6A1 Gene
Publications for COL6A1 Gene
- Single nucleotide polymorphism of COL6A1 in patients with ankylosing spondylitis. (PMID: 18634150) Kim TH … Jun JB (The Journal of rheumatology 2008) 3 23 41
- COL6A1 polymorphisms associated with ossification of the ligamentum flavum and ossification of the posterior longitudinal ligament. (PMID: 18246005) Kong Q … Chen Z (Spine 2007) 3 23 41
- Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. (PMID: 16130093) Giusti B … Pepe G (Annals of neurology 2005) 3 4 23
- COL6A1, the candidate gene for ossification of the posterior longitudinal ligament, is associated with diffuse idiopathic skeletal hyperostosis in Japanese. (PMID: 16227896) Tsukahara S … Inoue I (Spine 2005) 3 23 41
- New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. (PMID: 12840783) Pan TC … Chu ML (American journal of human genetics 2003) 3 23 41
ExternalLinks
Products for COL6A1 Gene
- Custom Antibody ServicesOriGene Antibodies for COL6A1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for COL6A1
- Origene Custom Protein Services for COL6A1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL6A1
- Browse OriGene Inhibitory RNA Products For COL6A1
- OriGene qPCR primer pairs for COL6A1
- OriGene qPCR primer pairs and template standards for COL6A1
- OriGene CRISPR knockouts for COL6A1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For COL6A1
- Sino Biological Human cDNA Clone for COL6A1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for COL6A1
- Novus Biologicals proteins and lysates for COL6A1
- Novus Biologicals ELISA Kits for COL6A1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- ESI BIO PureStem 7PEND24, NCr-fac & Meso-prx Progenitor and PureStem SK11, NCr-fac & Meso-prx Progenitor for COL6A1
- Invitrogen Antibodies for COL6A1 (AFLGC-COL6A1)
- VectorBuilder Custom and pre-made DNA vectors for COL6A1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for COL6A1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for COL6A1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for COL6A1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for COL6A1
- antibodies-online: Show 24 available COL6A1 Antibodies ranked by validation data
- Compare Top COL6A1 Antibodies
- Recommended
- 46 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 28 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 13 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- antibodies-online: Show 42 available COL6A1 Elisa Kits ranked by validation data
- Compare Top COL6A1 Elisa Kits
- antibodies-online: Show 14 available COL6A1 Proteins ranked by validation data
- Compare Top COL6A1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for COL6A1
- Search Santa Cruz Biotechnology (SCBT) for COL6A1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for COL6A1
- Horizon Cell Lines for COL6A1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL6A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL6A1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for COL6A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL6A1
Sources for COL6A1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB