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    COL7A1 collagen type VII alpha 1 chain [ Canis lupus familiaris (dog) ]

    Gene ID: 403467, updated on 17-Aug-2024

    Summary

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    Official Symbol
    COL7A1provided by VGNC
    Official Full Name
    collagen type VII alpha 1 chainprovided by VGNC
    Primary source
    VGNC:VGNC:39483
    See related
    Ensembl:ENSCAFG00845005927
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Canis lupus familiaris (sub-species: familiaris)
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
    Orthologs
    human mouse all
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    Genomic context

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    See COL7A1 in Genome Data Viewer
    Location:
    chromosome: 20
    Exon count:
    119
    Annotation release Status Assembly Chr Location
    106 current ROS_Cfam_1.0 (GCF_014441545.1) 20 NC_051824.1 (41004719..41035678)
    106 current Dog10K_Boxer_Tasha (GCF_000002285.5) 20 NC_006602.4 (40436737..40467232)
    106 current UU_Cfam_GSD_1.0 (GCF_011100685.1) 20 NC_049241.1 (40928007..40958502)
    106 current UMICH_Zoey_3.1 (GCF_005444595.1) 20 NC_049280.1 (40242306..40272806)
    106 current UNSW_CanFamBas_1.0 (GCF_013276365.1) 20 NC_049761.1 (40647074..40677568)

    Chromosome 20 - NC_051824.1Genomic Context describing neighboring genes Neighboring gene transmembrane protein 89 Neighboring gene uncharacterized LOC119864696 Neighboring gene ubiquinol-cytochrome c reductase core protein 1 Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 Neighboring gene urocortin 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa. Garcia TM, et al. Genes (Basel), 2020 Dec 4. PMID 33291836, Free PMC Article
    2. Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs. Niskanen J, et al. PLoS One, 2017. PMID 28493971, Free PMC Article
    3. Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Baldeschi C, et al. Hum Mol Genet, 2003 Aug 1. PMID 12874109
    4. Molecular cloning and characterization of a cDNA encoding canine type VII collagen non-collagenous (NC1) domain, the target antigen of autoimmune disease epidermolysis bullosa acquisita (EBA). Xu L, et al. Biochim Biophys Acta, 1998 Oct 22. PMID 9784596
    5. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa.
      Title: A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa.
    2. this study reveals a novel COL7A1 variant causing recessive dystrophic epidermolysis bullosa.
      Title: Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables protein binding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    enables serine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    collagen alpha-1(VII) chain
    Names
    collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive)

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001002980.1 → NP_001002980.1  collagen alpha-1(VII) chain precursor

      See identical proteins and their annotated locations for NP_001002980.1

      Status: PROVISIONAL

      Source sequence(s)
      AY183408
      UniProtKB/TrEMBL
      Q7YRK8
      Conserved Domains (6) summary
      pfam01391
      Location:2235 → 2294
      Collagen; Collagen triple helix repeat (20 copies)
      cd00063
      Location:687 → 771
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00109
      Location:2866 → 2922
      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.
      cd01482
      Location:37 → 201
      vWA_collagen_alphaI-XII-like; Collagen: 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 20 different ...
      pfam00041
      Location:233 → 317
      fn3; Fibronectin type III domain
      pfam00092
      Location:1054 → 1222
      VWA; von Willebrand factor type A domain

    RefSeqs of Annotated Genomes: Canis lupus familiaris Annotation Release 106 details...Open this link in a new tab

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

    Reference ROS_Cfam_1.0

    Genomic

    1. NC_051824.1 Reference ROS_Cfam_1.0

      Range
      41004719..41035678
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_038426346.1 → XP_038282274.1  collagen alpha-1(VII) chain isoform X1

      Related
      ENSCAFT00845010552.1
      Conserved Domains (8) summary
      smart00060
      Location:509 → 584
      FN3; Fibronectin type 3 domain
      PHA03169
      Location:1397 → 1584
      PHA03169; hypothetical protein; Provisional
      cd00063
      Location:687 → 771
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00109
      Location:2866 → 2922
      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.
      cd01482
      Location:37 → 201
      vWA_collagen_alphaI-XII-like; Collagen: 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 20 different ...
      pfam00041
      Location:235 → 317
      fn3; Fibronectin type III domain
      pfam00092
      Location:1054 → 1222
      VWA; von Willebrand factor type A domain
      pfam01391
      Location:2235 → 2291
      Collagen; Collagen triple helix repeat (20 copies)

    2. XM_038426347.1 → XP_038282275.1  collagen alpha-1(VII) chain isoform X2

      Conserved Domains (8) summary
      smart00060
      Location:509 → 584
      FN3; Fibronectin type 3 domain
      PHA03169
      Location:1397 → 1584
      PHA03169; hypothetical protein; Provisional
      cd00063
      Location:687 → 771
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00109
      Location:2836 → 2892
      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.
      cd01482
      Location:37 → 201
      vWA_collagen_alphaI-XII-like; Collagen: 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 20 different ...
      pfam00041
      Location:235 → 317
      fn3; Fibronectin type III domain
      pfam00092
      Location:1054 → 1222
      VWA; von Willebrand factor type A domain
      pfam01391
      Location:2235 → 2291
      Collagen; Collagen triple helix repeat (20 copies)

    Alternate UMICH_Zoey_3.1

    Genomic

    1. NC_049280.1 Alternate UMICH_Zoey_3.1

      Range
      40242306..40272806
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate UNSW_CanFamBas_1.0

    Genomic

    1. NC_049761.1 Alternate UNSW_CanFamBas_1.0

      Range
      40647074..40677568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate UU_Cfam_GSD_1.0

    Genomic

    1. NC_049241.1 Alternate UU_Cfam_GSD_1.0

      Range
      40928007..40958502
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate Dog10K_Boxer_Tasha Primary Assembly

    Genomic

    1. NC_006602.4 Alternate Dog10K_Boxer_Tasha Primary Assembly

      Range
      40436737..40467232
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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    Research Materials