Sign in to NCBI

Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

    COL6A3 collagen, type VI, alpha 3 [ Homo sapiens (human) ]

    Gene ID: 1293, updated on 11-May-2013
    Official Symbol
    COL6A3provided by HGNC
    Official Full Name
    collagen, type VI, alpha 3provided by HGNC
    Primary source
    HGNC:2213
    See related
    Ensembl:ENSG00000163359; HPRD:00371; MIM:120250; Vega:OTTHUMG00000150020
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]
    Location :
    2q37
    Sequence :
    Chromosome: 2; NC_000002.11 (238232655..238322850, complement)
    See COL6A3 in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC93463 Neighboring gene COP9 signalosome subunit 8 Neighboring gene melanophilin Neighboring gene prolactin releasing hormone

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. A genome-wide association study of aging. Walter S, et al. Neurobiol Aging, 2011 Nov. PMID 21782286.
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.
    3. Collagen Type VI-Related Disorders Lampe AK, et al. , 1993. PMID 20301676.
    4. Congenital Muscular Dystrophy Overview Sparks S, et al. , 1993. PMID 20301468.
    5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. Yoshida T, et al. Int J Mol Med, 2010 Apr. PMID 20198315.

    See all (38) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. in humans increased COL6A3 mRNA is associated with adipose tissue macrophage chemotaxis and inflammation and that weight gain
      Title: Adipose tissue collagen VI in obesity.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
    4. Study reports 10 unrelated patients with a Ullrich congenital muscular dystrophy clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2 and COL6A3.
      Title: Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
    5. Col6A3 fusion with colony-stimulating factor-1 gene is associated with tenosynovial giant cell tumors.
      Title: Molecular identification of COL6A3-CSF1 fusion transcripts in tenosynovial giant cell tumors.
    6. Haplotype analysis clearly suggested linkage of Ullrich muscular dystrophy to the COL6A1/2 locus in two cases and to the COL6A3 loci in the third case. In the remaining nine patients, primary collagen VI involvement was excluded
      Title: Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study.
    7. dominant mutations are common in Ullrich congenital muscular dystrophy (UCMD).
      Title: Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
    8. Postranslational processing of type VI collagen in articular cartilage was investigated: alpha3(VI) collagen C5 domain is initially incorporated into the newly formed type VI fibrils, but after secretion is cut and not in the mature pericellular matrix
      Title: The C5 domain of Col6A3 is cleaved off from the Col6 fibrils immediately after secretion.
    9. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
      Title: Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
    10. the alpha3(VI) C5 domain is present in the extracellular matrix of SaOS-2 N6-C5 expressing cells and fibroblasts, which demonstrates that processing of the C-terminal region of the alpha3(VI) chain is not essential for microfibril formation
      Title: The C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells.
    Submit: New GeneRIF Correction See all (12)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Bethlem myopathy

    Summary from GeneReviews: Collagen Type VI-Related Disorders Go to GeneReviews

    Disease Characteristics
    Collagen type VI-related disorders represent a continuum of overlapping phenotypes with Bethlem myopathy at the mild end, Ullrich congenital muscular dystrophy (CMD) at the severe end, and two rare, less well-defined disorders - autosomal dominant limb-girdle muscular dystrophy and autosomal recessive myosclerosis myopathy - in between. Although Bethlem myopathy and Ullrich CMD were defined long before their molecular basis was known, they remain useful for clarification of prognosis and management. Bethlem myopathy, characterized by the combination of proximal muscle weakness and variable contractures, affects most frequently the long finger flexors, elbows, and ankles. Onset may be prenatal (characterized by decreased fetal movements), neonatal (hypotonia or torticollis), in early childhood (delayed motor milestones, muscle weakness, and contractures), or in adulthood (proximal weakness and Achilles tendon or long finger flexor contractures). Because of slow progression, more than two thirds of affected individuals over age 50 years rely on supportive means for outdoor mobility. Respiratory involvement is rare and appears to be related to more severe muscle weakness in later life. Ullrich CMD is characterized by congenital weakness and hypotonia, proximal joint contractures, and striking hyperlaxity of distal joints. Some affected children acquire the ability to walk independently; however, progression of the disease often results in later loss of ambulation. Early and severe respiratory involvement may require ventilatory support in the first or second decade of life.
    Diagnosis Testing
    Diagnosis depends on typical clinical features; normal or only mildly elevated serum creatine kinase concentration; suggestive pattern on muscle magnetic resonance imaging (MRI); muscle biopsy with collagen VI immunolabeling (for suspected Ullrich CMD) or skin biopsy and dermal fibroblast culture with collagen VI immunolabeling (for suspected Bethlem myopathy); and molecular genetic testing of COL6A1, COL6A2, and COL6A3, the three genes encoding the three collagen VI peptide chains.
    Genetic Counseling
    The Bethlem myopathy phenotype is usually inherited in an autosomal dominant manner and the UMD phenotype is usually inherited in an autosomal recessive manner; however, exceptions occur. In the few cases reported to date, it appears that autosomal dominant limb-girdle muscular dystrophy is inherited in an autosomal dominant manner and the myosclerosis myopathy phenotype is inherited in an autosomal recessive manner. Carrier testing for autosomal recessive collagen VI-related disorders and prenatal testing are possible if the disease-causing mutations have been identified in an affected family member.
    References

    Summary from GeneReviews: Congenital Muscular Dystrophy Overview Go to GeneReviews

    Disease Characteristics
    Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. Muscle weakness typically presents from birth to early infancy. Affected infants typically appear "floppy" with low muscle tone and poor spontaneous movements. Affected children may present with delay or arrest of gross motor development together with joint and/or spinal rigidity. Muscle weakness may improve, worsen, or stabilize in the short term; however, with time progressive weakness and joint contractures, spinal deformities, and respiratory compromise may affect quality of life and life span. The main CMD subtypes, grouped by involved protein function and gene in which causative mutations occur, are laminin alpha-2 (merosin) deficiency (MDC1A), collagen VI-deficient CMD, the dystroglycanopathies (caused by mutations in POMT1, POMT2, FKTN, FKRP, LARGE, POMGNT1, and ISPD), SEPN1-related CMD (previously known as rigid spine syndrome, RSMD1) and LMNA-related CMD (L-CMD). Several less known CMD subtypes have been reported in a limited number of individuals. Cognitive impairment ranging from intellectual disability to mild cognitive delay, structural brain and/or eye abnormalities, and seizures are found almost exclusively in the dystroglycanopathies while white matter abnormalities without major cognitive involvement tend to be seen in the laminin alpha-2-deficient subtype.
    Diagnosis Testing
    The diagnosis of congenital muscular dystrophy relies on clinical findings, brain and muscle imaging, muscle biopsy histology (dystrophic features without the hallmarks of the structural changes seen in the congenital myopathies), muscle and/or skin immunohistochemical staining, and molecular genetic testing.
    Genetic Counseling
    The congenital muscular dystrophies are inherited in an autosomal recessive manner with the exception of collagen VI-deficient CMD which may be inherited in an autosomal recessive or an autosomal dominant manner and LMNA-related CMD (L-CMD) which is inherited in an autosomal dominant manner with all cases to date caused by de novo mutation. In autosomal recessive subtypes, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carriers are asymptomatic. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutations in the family are known. In autosomal dominant subtypes, the offspring of affected individuals have a 50% chance of being affected. The risk to sibs of an individual with an apparently de novo mutation is low, but not zero because of the possibility of germline mosaicism in one of the parents. Prenatal testing for pregnancies at increased risk is possible for families in which the disease-causing mutation has been identified.
    References

    Ullrich congenital muscular dystrophy

    Summary from GeneReviews: Collagen Type VI-Related Disorders Go to GeneReviews

    Disease Characteristics
    Collagen type VI-related disorders represent a continuum of overlapping phenotypes with Bethlem myopathy at the mild end, Ullrich congenital muscular dystrophy (CMD) at the severe end, and two rare, less well-defined disorders - autosomal dominant limb-girdle muscular dystrophy and autosomal recessive myosclerosis myopathy - in between. Although Bethlem myopathy and Ullrich CMD were defined long before their molecular basis was known, they remain useful for clarification of prognosis and management. Bethlem myopathy, characterized by the combination of proximal muscle weakness and variable contractures, affects most frequently the long finger flexors, elbows, and ankles. Onset may be prenatal (characterized by decreased fetal movements), neonatal (hypotonia or torticollis), in early childhood (delayed motor milestones, muscle weakness, and contractures), or in adulthood (proximal weakness and Achilles tendon or long finger flexor contractures). Because of slow progression, more than two thirds of affected individuals over age 50 years rely on supportive means for outdoor mobility. Respiratory involvement is rare and appears to be related to more severe muscle weakness in later life. Ullrich CMD is characterized by congenital weakness and hypotonia, proximal joint contractures, and striking hyperlaxity of distal joints. Some affected children acquire the ability to walk independently; however, progression of the disease often results in later loss of ambulation. Early and severe respiratory involvement may require ventilatory support in the first or second decade of life.
    Diagnosis Testing
    Diagnosis depends on typical clinical features; normal or only mildly elevated serum creatine kinase concentration; suggestive pattern on muscle magnetic resonance imaging (MRI); muscle biopsy with collagen VI immunolabeling (for suspected Ullrich CMD) or skin biopsy and dermal fibroblast culture with collagen VI immunolabeling (for suspected Bethlem myopathy); and molecular genetic testing of COL6A1, COL6A2, and COL6A3, the three genes encoding the three collagen VI peptide chains.
    Genetic Counseling
    The Bethlem myopathy phenotype is usually inherited in an autosomal dominant manner and the UMD phenotype is usually inherited in an autosomal recessive manner; however, exceptions occur. In the few cases reported to date, it appears that autosomal dominant limb-girdle muscular dystrophy is inherited in an autosomal dominant manner and the myosclerosis myopathy phenotype is inherited in an autosomal recessive manner. Carrier testing for autosomal recessive collagen VI-related disorders and prenatal testing are possible if the disease-causing mutations have been identified in an affected family member.
    References

    Summary from GeneReviews: Congenital Muscular Dystrophy Overview Go to GeneReviews

    Disease Characteristics
    Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. Muscle weakness typically presents from birth to early infancy. Affected infants typically appear "floppy" with low muscle tone and poor spontaneous movements. Affected children may present with delay or arrest of gross motor development together with joint and/or spinal rigidity. Muscle weakness may improve, worsen, or stabilize in the short term; however, with time progressive weakness and joint contractures, spinal deformities, and respiratory compromise may affect quality of life and life span. The main CMD subtypes, grouped by involved protein function and gene in which causative mutations occur, are laminin alpha-2 (merosin) deficiency (MDC1A), collagen VI-deficient CMD, the dystroglycanopathies (caused by mutations in POMT1, POMT2, FKTN, FKRP, LARGE, POMGNT1, and ISPD), SEPN1-related CMD (previously known as rigid spine syndrome, RSMD1) and LMNA-related CMD (L-CMD). Several less known CMD subtypes have been reported in a limited number of individuals. Cognitive impairment ranging from intellectual disability to mild cognitive delay, structural brain and/or eye abnormalities, and seizures are found almost exclusively in the dystroglycanopathies while white matter abnormalities without major cognitive involvement tend to be seen in the laminin alpha-2-deficient subtype.
    Diagnosis Testing
    The diagnosis of congenital muscular dystrophy relies on clinical findings, brain and muscle imaging, muscle biopsy histology (dystrophic features without the hallmarks of the structural changes seen in the congenital myopathies), muscle and/or skin immunohistochemical staining, and molecular genetic testing.
    Genetic Counseling
    The congenital muscular dystrophies are inherited in an autosomal recessive manner with the exception of collagen VI-deficient CMD which may be inherited in an autosomal recessive or an autosomal dominant manner and LMNA-related CMD (L-CMD) which is inherited in an autosomal dominant manner with all cases to date caused by de novo mutation. In autosomal recessive subtypes, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carriers are asymptomatic. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutations in the family are known. In autosomal dominant subtypes, the offspring of affected individuals have a 50% chance of being affected. The risk to sibs of an individual with an apparently de novo mutation is low, but not zero because of the possibility of germline mosaicism in one of the parents. Prenatal testing for pregnancies at increased risk is possible for families in which the disease-causing mutation has been identified.
    References
    Products Interactant Other Gene Complex Source Pubs Description
    P12111 P08253 MMP2    HPRD  PubMed  
    • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
      Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
      Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
    • Collagen formation, organism-specific biosystem (from REACTOME)
      Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • ECM-receptor interaction, organism-specific biosystem (from KEGG)
      ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • ECM-receptor interaction, conserved biosystem (from KEGG)
      ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin, fibronectin and laminin embedded in a viscoelastic gel of ani...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
      NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
    • NCAM1 interactions, organism-specific biosystem (from REACTOME)
      NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
      PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
      PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • Protein digestion and absorption, organism-specific biosystem (from KEGG)
      Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Protein digestion and absorption, conserved biosystem (from KEGG)
      Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by PDGF, organism-specific biosystem (from REACTOME)
      Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ34702, FLJ98399, DKFZp686N0262, DKFZp686D23123, DKFZp686K04147

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    serine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    axon guidance TAS
    Traceable Author Statement
    more info
    		  
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    collagen catabolic process TAS
    Traceable Author Statement
    more info
    		  
    extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
    		  
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
    		  
    muscle organ development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    collagen type VI TAS
    Traceable Author Statement
    more info
    		 PubMed 
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		  
    colocalizes_with extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    extracellular region TAS
    Traceable Author Statement
    more info
    		  
    extracellular space IDA
    Inferred from Direct Assay
    more info
    		  
    sarcolemma IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    collagen alpha-3(VI) chain
    Names
    collagen alpha-3(VI) chain
    collagen VI, alpha-3 polypeptide

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008676.1 RefSeqGene

      Range
      5001..95196
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004369.3 → NP_004360.2  collagen alpha-3(VI) chain isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the full-length isoform (1).
      Source sequence(s)
      AK092021, AK308451, BC033174, BU687672, BX647500, DC411101, X52022
      Consensus CDS
      CCDS33412.1
      UniProtKB/TrEMBL
      D9ZGF2
      UniProtKB/Swiss-Prot
      P12111
      UniProtKB/TrEMBL
      Q63HQ4
      UniProtKB/TrEMBL
      Q8N4Z1
      Related
      ENSP00000295550, OTTHUMP00000195994, ENST00000295550, OTTHUMT00000315790
      Conserved Domains (7) summary
      cd00109
      Location:3110 – 3162
      Blast Score: 247
      KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
      cd01450
      Location:2401 – 2543
      Blast Score: 212
      vWFA_subfamily_ECM; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cd01481
      Location:1435 – 1599
      Blast Score: 661
      vWA_collagen_alpha3-VI-like; VWA_collagen alpha 3(VI) like: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than ...
      pfam01391
      Location:2316 – 2371
      Blast Score: 187
      Collagen; Collagen triple helix repeat (20 copies)
      smart00060
      Location:2993 – 3061
      Blast Score: 98
      FN3; Fibronectin type 3 domain
      smart00327
      Location:1838 – 1994
      Blast Score: 128
      VWA; von Willebrand factor (vWF) type A domain
      cl00057
      Location:1028 – 1191
      Blast Score: 546
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    2. NM_057164.4 → NP_476505.3  collagen alpha-3(VI) chain isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 5' coding region, lacks several exons in the 3' coding region, but contains an alternate 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) is significantly shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK092021, BX647500, DC411101
      Consensus CDS
      CCDS54439.1
      UniProtKB/Swiss-Prot
      P12111
      UniProtKB/TrEMBL
      Q63HQ4
      Related
      ENSP00000375860, OTTHUMP00000195996, ENST00000392003, OTTHUMT00000315792
      Conserved Domains (2) summary
      cd01481
      Location:37 – 201
      Blast Score: 626
      vWA_collagen_alpha3-VI-like; VWA_collagen alpha 3(VI) like: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than ...
      cl00057
      Location:231 – 395
      Blast Score: 536
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    3. NM_057165.4 → NP_476506.3  collagen alpha-3(VI) chain isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, lacks several exons in the 3' coding region, but contains an alternate 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is significantly shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK304870, BX647500, DC411101
      Consensus CDS
      CCDS33411.2
      UniProtKB/TrEMBL
      B4E3U5
      UniProtKB/TrEMBL
      E9PGQ9
      UniProtKB/TrEMBL
      Q63HQ4
      Related
      ENSP00000375861, OTTHUMP00000195995, ENST00000392004, OTTHUMT00000315791
      Conserved Domains (2) summary
      cd01481
      Location:238 – 402
      Blast Score: 624
      vWA_collagen_alpha3-VI-like; VWA_collagen alpha 3(VI) like: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than ...
      cl00057
      Location:432 – 596
      Blast Score: 534
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    4. NM_057166.4 → NP_476507.3  collagen alpha-3(VI) chain isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks three alternate in-frame exons in the 5' coding region, compared to variant 1, resulting in an isoform (4) that is shorter than isoform 1.
      Source sequence(s)
      BC144595, BC171790, BU687672, DC411101
      Consensus CDS
      CCDS33410.2
      UniProtKB/TrEMBL
      B7ZW00
      UniProtKB/Swiss-Prot
      P12111
      Related
      ENSP00000418285, OTTHUMP00000213923, ENST00000472056, OTTHUMT00000353032
      Conserved Domains (6) summary
      cd00109
      Location:2503 – 2555
      Blast Score: 245
      KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
      cd01450
      Location:1794 – 1936
      Blast Score: 214
      vWFA_subfamily_ECM; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cd01481
      Location:828 – 992
      Blast Score: 662
      vWA_collagen_alpha3-VI-like; VWA_collagen alpha 3(VI) like: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than ...
      pfam01391
      Location:1709 – 1764
      Blast Score: 183
      Collagen; Collagen triple helix repeat (20 copies)
      smart00060
      Location:2386 – 2454
      Blast Score: 98
      FN3; Fibronectin type 3 domain
      cl00057
      Location:229 – 392
      Blast Score: 480
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    5. NM_057167.3 → NP_476508.2  collagen alpha-3(VI) chain isoform 5 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (5) that is shorter than isoform 1.
      Source sequence(s)
      AK092021, AK308451, BC033174, BU687672, BX647500, DC411101, X52022
      Consensus CDS
      CCDS33409.1
      UniProtKB/Swiss-Prot
      P12111
      UniProtKB/TrEMBL
      Q63HQ4
      UniProtKB/TrEMBL
      Q8N4Z1
      Related
      ENSP00000315873, ENST00000353578
      Conserved Domains (6) summary
      cd00109
      Location:2904 – 2956
      Blast Score: 247
      KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
      cd01450
      Location:2195 – 2337
      Blast Score: 212
      vWFA_subfamily_ECM; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cd01481
      Location:1229 – 1393
      Blast Score: 660
      vWA_collagen_alpha3-VI-like; VWA_collagen alpha 3(VI) like: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than ...
      pfam01391
      Location:2110 – 2165
      Blast Score: 186
      Collagen; Collagen triple helix repeat (20 copies)
      smart00060
      Location:2787 – 2855
      Blast Score: 98
      FN3; Fibronectin type 3 domain
      cl00057
      Location:432 – 596
      Blast Score: 546
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p10 Primary Assembly

      Range
      238232655..238322850, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      230024688..230114910, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018913.1 Alternate CHM1_1.0

      Range
      237602955..237693265, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01042583.1 (41184..75785) None
    genomic ABBA01042584.1 None
    genomic AC112715.4 AAY14906.1
    genomic AC112721.3 AAY24135.1
    genomic AMYH01011597.1 (780871..788954) None
    genomic AMYH01011598.1 None
    genomic CH471063.1 EAW71103.1
      EAW71104.1
      EAW71105.1
      EAW71106.1
      EAW71107.1
      EAW71108.1
      EAW71109.1
      EAW71110.1
    genomic HM015590.1 ADL14511.1
    mRNA AB209636.1 BAD92873.1
    mRNA AK092021.1 BAG52467.1
    mRNA AK303290.1 BAG64366.1
    mRNA AK304870.1 BAG65607.1
    mRNA AK308451.1 None
    mRNA AL698472.1 None
    mRNA AL706147.1 None
    mRNA AL710464.1 None
    mRNA BC033174.1 AAH33174.1
    mRNA BC144595.1 AAI44596.1
    mRNA BC150625.1 AAI50626.1
    mRNA BC171790.1 AAI71790.1
    mRNA BQ446249.1 None
    mRNA BU687672.1 None
    mRNA BX641155.1 CAE46068.1
    mRNA BX647361.1 None
    mRNA BX647500.1 CAH56139.1
    mRNA CN281809.1 None
    mRNA DC411101.1 None
    mRNA M20778.1 None
    mRNA M27449.1 AAA52057.1
    mRNA S49432.1 AAB24261.1
    mRNA X06196.1 CAA29557.1
    mRNA X52022.1 CAA36267.1
    other-genetic BC172233.1 AAI72233.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P12111.5 GenPept UniProtKB/Swiss-Prot:P12111

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • 3D structures
        3D structure of a gene
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • Books
        Links between Entrez Gene and 'Books' are established if a GeneID is explicitly referenced in a book.
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

      General information

      Related sites

      Feedback

      Subscription

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...