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 Bethlem Myopathy 1 and Ullrich Congenital Muscular Dystrophy 1. Among its related pathways are ERK Signaling 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 COL6A2.
UniProtKB/Swiss-Prot for COL6A1 Gene
-
Collagen VI acts as a cell-binding protein.
Additional gene information for COL6A1 Gene
- Monarch Initiative
- Search for COL6A1 at DataMed
- Search for COL6A1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL6A1 Gene
Genomics for COL6A1 Gene
GeneHancer (GH) Regulatory Elements for COL6A1 Gene
Promoters and enhancers for COL6A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around COL6A1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the COL6A1 gene promoter:
-
- AP-1
- c-Jun
- ATF-2
- NF-kappaB
- NF-kappaB1
- RelA
- AML1a
- Max1
- c-Myc
- Ik-1
Regulatory Element Products
Genomic Locations for COL6A1 Gene
Genomic Locations for COL6A1 Gene
- chr21:45,981,737-46,005,050
- (GRCh38/hg38)
- Size:
- 23,314 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 Entrez Gene
- 21q22.3 by HGNC
- 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
- Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
- Glycosylation at Asn896, posLast=804804, Asn537, Asn516, and Asn212
- Modification sites at PhosphoSitePlus
Other Protein References for COL6A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for COL6A1
- Novus Biologicals Antibodies for COL6A1
- Invitrogen Antibodies for COL6A1
- GeneTex COL6A1 Antibody for COL6A1
-
Santa Cruz Biotechnology (SCBT) Antibodies for COL6A1
Protein Products
-
OriGene Purified Proteins for COL6A1
- Search Origene for MassSpec and Protein Over-expression Lysates for COL6A1
- Origene Custom Protein Services for COL6A1
- Search GeneTex for Proteins for COL6A1
Assay Products
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
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for COL6A1 Gene
- GenScript: Design optimal peptide antigens:
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:0048407 | platelet-derived growth factor binding | IDA | 8900172 |
Phenotypes for COL6A1 Gene
- MGI mutant phenotypes for COL6A1:
- inferred from 2 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
- Cyagen custom Knockout/knockin (KOKI) mouse models for COL6A1
-
CRISPR Products
-
OriGene CRISPR knockouts for COL6A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL6A1
- genomics-online: gRNA clones - Search results for available COL6A1 gene related products
- Applied Biological Materials CRISPR for COL6A1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL6A1
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for available COL6A1 gene related products
Clone Products
- GenScript: Custom all cDNA clones Services for COL6A1
- Sino Biological Human cDNA Clone for COL6A1
- VectorBuilder custom plasmid, inducible vectors for COL6A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL6A1
-
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
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL6A1
- genomics-online: cdna clones - Search results for available COL6A1 gene related products
- orf clones - Search results for available COL6A1 gene related products
- Applied Biological Materials Clones for COL6A1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 | 5 |
| lysosome | 5 |
| plasma membrane | 3 |
| cytosol | 3 |
| mitochondrion | 2 |
| cytoskeleton | 1 |
| nucleus | 1 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS,IDA | -- |
| GO:0005581 | collagen trimer | IEA | -- |
| GO:0005589 | collagen type VI trimer | NAS | 2551668 |
| GO:0005615 | extracellular space | IEA | -- |
| GO:0005765 | lysosomal membrane | HDA | 17897319 |
Pathways & Interactions for COL6A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Collagen chain trimerization | ||
| 2 | Integrin Pathway |
.67
.67
.56
|
.56
|
| 3 | ERK Signaling |
.61
.58
|
.49
|
| 4 | PI3K-Akt signaling pathway | ||
| 5 | Phospholipase-C 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
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:0007155 | cell adhesion | IEA | -- |
| GO:0030198 | extracellular matrix organization | TAS | -- |
| GO:0030574 | collagen catabolic process | 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 :
- (12) Additional mRNA sequences :
- (700) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000361866 4238 bps (uc002zhu.2)
- ENST00000492851 435 bps (uc062axq.1)
- ENST00000466285 500 bps (uc062axr.1)
- ENST00000463060 863 bps (uc062axs.1)
- ENST00000498614 2358 bps (uc002zhv.2)
Unigene Clusters for COL6A1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for COL6A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL6A1
- genomics-online: gRNA clones - Search results for available COL6A1 gene related products
- Applied Biological Materials CRISPR for COL6A1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL6A1
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for available COL6A1 gene related products
Clone Products
- GenScript: Custom all cDNA clones Services for COL6A1
- Sino Biological Human cDNA Clone for COL6A1
- VectorBuilder custom plasmid, inducible vectors for COL6A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL6A1
-
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
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL6A1
- genomics-online: cdna clones - Search results for available COL6A1 gene related products
- orf clones - Search results for available COL6A1 gene related products
- Applied Biological Materials Clones for COL6A1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
NURSA nuclear receptor signaling pathways regulating expression of COL6A1 Gene:
COL6A1SOURCE GeneReport for Unigene cluster for COL6A1 Gene:
Hs.474053Evidence on tissue expression from TISSUES for COL6A1 Gene
- Kidney(4.4)
- Liver(4.4)
- Lung(4.1)
- Bone(3.9)
- Skin(3.7)
- Nervous system(3.7)
- Heart(3.4)
- Muscle(3)
- Intestine(2.9)
- Eye(2.8)
- Gall bladder(2.6)
- Pancreas(2.4)
- 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 and template standards for COL6A1
-
OriGene qPCR primer pairs for COL6A1
- genomics-online: primer clones - Search results for available COL6A1 gene related products
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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | COL6A1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | COL6A1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Col6a1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Col6a1 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | COL6A1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | COL6A1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | COL6A1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | COL6A1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | col6a1 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | col6a1-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | col6a1 34 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | mec-5 34 |
|
OneToMany |
- Species where no ortholog for COL6A1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
Variants for COL6A1 Gene
| SNP ID | Clin | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1024831382 | uncertain-significance, Collagen VI-related myopathy | 45,987,490(+) | C/T | intron_variant | |
| rs1045044140 | uncertain-significance, Collagen VI-related myopathy | 45,999,172(+) | G/A | coding_sequence_variant, missense_variant | |
| rs1053312 | benign, not specified, Collagen VI-related myopathy, Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1 | 46,003,475(+) | G/A | coding_sequence_variant, missense_variant | |
| rs1053315 | conflicting-interpretations-of-pathogenicity, benign, not specified, Collagen VI-related myopathy, Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1 | 46,003,593(+) | G/A/T | coding_sequence_variant, synonymous_variant | |
| rs1053320 | benign, not specified, Collagen VI-related myopathy | 46,003,722(+) | C/T | coding_sequence_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv953657 | CNV | deletion | 24416366 |
| nsv587935 | CNV | gain | 21841781 |
| nsv587934 | CNV | loss | 21841781 |
| nsv587933 | CNV | loss | 21841781 |
| nsv587930 | CNV | loss | 21841781 |
| nsv513579 | CNV | insertion | 21212237 |
| nsv509804 | CNV | insertion | 20534489 |
| nsv470910 | CNV | gain | 18288195 |
| nsv1129227 | CNV | insertion | 24896259 |
| nsv1126010 | CNV | deletion | 24896259 |
| nsv1109448 | CNV | deletion | 24896259 |
| esv3557859 | CNV | deletion | 23714750 |
| esv2723853 | CNV | deletion | 23290073 |
| esv2723852 | CNV | deletion | 23290073 |
| esv2723851 | CNV | deletion | 23290073 |
| esv2723849 | CNV | deletion | 23290073 |
| esv1561412 | CNV | insertion | 17803354 |
| esv1409667 | CNV | insertion | 17803354 |
| esv1396032 | CNV | insertion | 17803354 |
| esv1025241 | CNV | insertion | 17803354 |
| dgv7920n54 | CNV | loss | 21841781 |
| dgv7919n54 | CNV | loss | 21841781 |
| dgv254n21 | CNV | loss | 19592680 |
| dgv2416n106 | CNV | deletion | 24896259 |
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
(12) MalaCards diseases for COL6A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| bethlem myopathy 1 |
|
|
| ullrich congenital muscular dystrophy 1 |
|
|
| myopathy |
|
|
| collagen vi-related myopathy |
|
|
| ossification of the posterior longitudinal ligament of spine |
|
|
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.
Additional Disease Information for COL6A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 44 58
- 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 22 44 58
- Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. (PMID: 16130093) Giusti B … Pepe G (Annals of neurology 2005) 3 4 22 58
- 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 22 44 58
- 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 22 44 58
Products for COL6A1 Gene
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- Custom Antibody ServicesOriGene Antibodies for COL6A1
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- GenScript: Custom all cDNA clones Services for COL6A1
- GenScript Custom Purified and Recombinant Proteins Services for COL6A1
- GenScript Custom Assay Services for COL6A1
- GenScript Custom overexpressing Cell Line Services for COL6A1
- GenScript: Design CRISPR guide RNA sequences for COL6A1
- 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
- GenScript Custom Peptide Services 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 cDNA Clones
- 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 lysates and proteins for COL6A1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- 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
- Cyagen custom Knockout/knockin (KOKI) mouse models for COL6A1
- VectorBuilder custom plasmid, inducible vectors for COL6A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL6A1
- 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
- antibodies-online: Search results for 82 available COL6A1 Antibodies ranked by validation data
- Compare Top COL6A1 Antibodies
- antibodies-online: Search results for 32 available COL6A1 Elisa Kits ranked by validation data
- Compare Top COL6A1 Elisa Kits
- antibodies-online: Search results for 12 available COL6A1 Proteins ranked by validation data
- Compare Top COL6A1 Proteins
- GeneTex COL6A1 Antibody for COL6A1
- Search GeneTex for Proteins for COL6A1
- 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
- genomics-online: cdna clones - Search results for available COL6A1 gene related products
- orf clones - Search results for available COL6A1 gene related products
- genomics-online: gRNA clones - Search results for available COL6A1 gene related products
- genomics-online: primer clones - Search results for available COL6A1 gene related products
- genomics-online: shRNA clones - Search results for available COL6A1 gene related products
- 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
- GeneCopoeia 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) 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