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Aliases for MIR711 Gene

Subcategory (RNA class) for MIR711 Gene

miRNA

Quality Score for this RNA gene is

3

Aliases for MIR711 Gene

  • MicroRNA 711 2 3
  • COL7A1 4 5
  • Collagen Type VII Alpha 1 Chain 5
  • Long-Chain Collagen 4
  • LC Collagen 4
  • Hsa-Mir-711 3

External Ids for MIR711 Gene

Previous GeneCards Identifiers for MIR711 Gene

  • GC00U924970
  • GC03M048616

Summaries for MIR711 Gene

Entrez Gene Summary for MIR711 Gene

  • microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]

GeneCards Summary for MIR711 Gene

MIR711 (MicroRNA 711) is an RNA Gene, and is affiliated with the miRNA class. Diseases associated with MIR711 include Epidermolysis Bullosa Pruriginosa and Epidermolysis Bullosa Dystrophica. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. An important paralog of this gene is COL12A1.

UniProtKB/Swiss-Prot for MIR711 Gene

  • Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIR711 Gene

Genomics for MIR711 Gene

Regulatory Elements for MIR711 Gene

Enhancers for MIR711 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F048551 1.5 FANTOM5 ENCODE 12.1 +36.0 35997 15.4 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF207 TMA7 WDR6 NICN1 FCF1P2 COL7A1 MIR711 ATRIP ENSG00000244380 CCDC51 FBXW12
GH03F048464 1.2 ENCODE 10.7 +125.2 125179 11.4 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 TMA7 ATRIP SHISA5 ENSG00000223343 ENSG00000244380 CCDC51 PLXNB1 MIR711 COL7A1 PFKFB4
GH03F048623 1.1 ENCODE 11.3 -29.0 -29046 1.6 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF766 ZNF143 ZNF207 WDR6 ENSG00000223343 MIR711 COL7A1 PFKFB4 UCN2 NICN1 ENSG00000244380 ATRIP FBXW12
GH03F048632 1 ENCODE 11.6 -39.8 -39762 4.1 HDGF PKNOX1 ATF1 ARID4B SIN3A GLI4 DMAP1 ZNF48 ZNF2 GLIS2 WDR6 COL7A1 MIR711 UCN2 PFKFB4 SLC26A6 MIR6824 TMEM89
GH03F048477 0.9 Ensembl ENCODE 10.9 +116.5 116481 3.2 KLF1 MAX ZIC2 ZFHX2 IKZF1 MLLT1 MYC EGR2 ZXDB TMA7 SHISA5 ATRIP ENSG00000244380 CCDC51 PFKFB4 UCN2 COL7A1 MIR711 FBXW12
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MIR711 on UCSC Golden Path with GeneCards custom track

Promoters for MIR711 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001363481 167 601 SMARCC1 MAZ TAF1 POLR2A SMARCB1

Genomic Location for MIR711 Gene

Chromosome:
3
Start:
48,564,073 bp from pter
End:
48,595,267 bp from pter
Size:
31,195 bases
Orientation:
Minus strand

Genomic View for MIR711 Gene

Genes around MIR711 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIR711 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIR711 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIR711 Gene

Proteins for MIR711 Gene

  • Protein details for MIR711 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02388-CO7A1_HUMAN
    Recommended name:
    Collagen alpha-1(VII) chain
    Protein Accession:
    Q02388
    Secondary Accessions:
    • Q14054
    • Q16507

    Protein attributes for MIR711 Gene

    Size:
    2944 amino acids
    Molecular mass:
    295220 Da
    Quaternary structure:
    • Homotrimer. Interacts with MIA3/TANGO1; facilitating its loading into transport carriers and subsequent secretion.
    • Homotrimer. Interacts with MIA3/TANGO1; facilitating its loading into transport carriers and subsequent secretion.
    SequenceCaution:
    • Sequence=BAA02853.1; Type=Frameshift; Positions=275, 282, 476, 494, 523, 541, 543; Evidence={ECO:0000305};

    Alternative splice isoforms for MIR711 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MIR711 Gene

Post-translational modifications for MIR711 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 Asn 337, Asn 786, Asn 1109, Lys 2625, and Lys 2631
  • Modification sites at PhosphoSitePlus

Other Protein References for MIR711 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for MIR711 Gene

Domains & Families for MIR711 Gene

Gene Families for MIR711 Gene

Graphical View of Domain Structure for InterPro Entry

Q02388

UniProtKB/Swiss-Prot:

CO7A1_HUMAN :
  • Contains 1 BPTI/Kunitz inhibitor domain.
Domain:
  • Contains 1 BPTI/Kunitz inhibitor domain.
  • Contains 9 fibronectin type-III domains.
  • Contains 2 VWFA domains.
genes like me logo Genes that share domains with MIR711: view

No data available for Suggested Antigen Peptide Sequences for MIR711 Gene

Function for MIR711 Gene

Molecular function for MIR711 Gene

UniProtKB/Swiss-Prot Function:
Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen.

Gene Ontology (GO) - Molecular Function for MIR711 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0005515 protein binding IPI --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with MIR711: view

Animal Model Products

miRNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MIR711 Gene

Localization for MIR711 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIR711 Gene

Secreted, extracellular space, extracellular matrix, basement membrane.

Gene Ontology (GO) - Cellular Components for MIR711 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005590 collagen type VII trimer TAS --
GO:0005604 basement membrane TAS --
genes like me logo Genes that share ontologies with MIR711: view

No data available for Subcellular locations from COMPARTMENTS for MIR711 Gene

Pathways & Interactions for MIR711 Gene

genes like me logo Genes that share pathways with MIR711: view

Gene Ontology (GO) - Biological Process for MIR711 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007155 cell adhesion IEA --
GO:0008544 epidermis development TAS --
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
genes like me logo Genes that share ontologies with MIR711: view

No data available for SIGNOR curated interactions for MIR711 Gene

Transcripts for MIR711 Gene

mRNA/cDNA for MIR711 Gene

(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for MIR711 Gene

No ASD Table

Relevant External Links for MIR711 Gene

GeneLoc Exon Structure for
MIR711
ECgene alternative splicing isoforms for
MIR711

Expression for MIR711 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MIR711 Gene

mRNA differential expression in normal tissues according to GTEx for MIR711 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x7.8), Skin - Sun Exposed (Lower leg) (x5.6), and Prostate (x4.0).

NURSA nuclear receptor signaling pathways regulating expression of MIR711 Gene:

MIR711
genes like me logo Genes that share expression patterns with MIR711: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MIR711 Gene

Orthologs for MIR711 Gene

This gene was present in the common ancestor of animals.

Orthologs for MIR711 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL7A1 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL7A1 35
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL7A1 35
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col7a1 35
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL7A1 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL7A1 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL7A1 35
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL7A1 35
  • 57 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii col7a1 35
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta vkg 35
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea emb-9 35
  • 35 (a)
ManyToMany
let-2 35
  • 35 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10972 35
  • 35 (a)
ManyToMany
CSA.6298 35
  • 34 (a)
ManyToMany
Species where no ortholog for MIR711 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MIR711 Gene

ENSEMBL:
Gene Tree for MIR711 (if available)
TreeFam:
Gene Tree for MIR711 (if available)

Paralogs for MIR711 Gene

genes like me logo Genes that share paralogs with MIR711: view

Variants for MIR711 Gene

Sequence variations from dbSNP and Humsavar for MIR711 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs121912841 Pathogenic 48,578,497(-) TCCGT(A/C/G)GAGAA nc-transcript-variant, downstream-variant-500B, reference, missense
rs121912845 Pathogenic 48,580,301(-) GGAGC(C/T)GGTGA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs730880285 Likely pathogenic 48,580,881(-) TTCGG(C/G)TGAGT upstream-variant-2KB, splice-donor-variant
rs200931039 Likely benign 48,579,177(+) ACCAG(A/G)CAGGA intron-variant, upstream-variant-2KB
rs864321654 Uncertain significance 48,580,633(-) TCGGG(A/G)GCCTG nc-transcript-variant, upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MIR711 Gene

Variant ID Type Subtype PubMed ID
nsv1004383 CNV loss 25217958
nsv3811 CNV deletion 18451855
nsv523981 CNV loss 19592680
nsv818138 CNV gain 17921354
nsv834685 CNV loss 17160897
nsv954484 CNV deletion 24416366

Relevant External Links for MIR711 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIR711

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for MIR711 Gene

Disorders for MIR711 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MIR711 Gene - From: GeneCards

Disorder Aliases PubMed IDs
epidermolysis bullosa pruriginosa
  • dystrophic epidermolysis bullosa pruriginosa
epidermolysis bullosa dystrophica
  • dystrophic epidermolysis bullosa
dominant dystrophic epidermolysis bullosa
  • autosomal dominant dystrophic epidermolysis bullosa, pasini and cockayne-touraine types
epidermolysis bullosa simplex superficialis
  • ebss
epidermolysis bullosa, pretibial
  • epidermolysis bullosa dystrophica, pretibial
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CO7A1_HUMAN
  • Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]: A group of autosomal dominant blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. {ECO:0000269 PubMed:10084325, ECO:0000269 PubMed:10232406, ECO:0000269 PubMed:10232407, ECO:0000269 PubMed:10232408, ECO:0000269 PubMed:10836608, ECO:0000269 PubMed:11142768, ECO:0000269 PubMed:20598510, ECO:0000269 PubMed:7861014, ECO:0000269 PubMed:9215684, ECO:0000269 PubMed:9668111, ECO:0000269 PubMed:9740253, ECO:0000269 PubMed:9856843}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]: A group of autosomal recessive blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. Mild forms include epidermolysis bullosa mitis and epidermolysis bullosa localisata. {ECO:0000269 PubMed:10084325, ECO:0000269 PubMed:10620140, ECO:0000269 PubMed:11167698, ECO:0000269 PubMed:20598510, ECO:0000269 PubMed:8618018, ECO:0000269 PubMed:8757758, ECO:0000269 PubMed:9215684, ECO:0000269 PubMed:9444387, ECO:0000269 PubMed:9740253, ECO:0000269 PubMed:9804332}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa dystrophica, Bart type (B-DEB) [MIM:132000]: An autosomal dominant form of dystrophic epidermolysis bullosa characterized by congenital localized absence of skin, skin fragility and deformity of nails. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB) [MIM:226600]: The most severe recessive form of dystrophic epidermolysis bullosa. It manifests with mutilating scarring, joint contractures, corneal erosions, esophagus structures, and propensity to formation of cutaneous squamous cell carcinomas leading to premature demise of the affected individuals. {ECO:0000269 PubMed:10084325, ECO:0000269 PubMed:8513326, ECO:0000269 PubMed:8592061, ECO:0000269 PubMed:9326325, ECO:0000269 PubMed:9740253}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa dystrophica, Pasini type (P-DEB) [MIM:131750]: A severe, dominantly inherited form of dystrophic epidermolysis bullosa characterized by albopapuloid Pasini papule, dorsal extremity blistering, milia formation and red atrophic scarring after recurrent blisters. {ECO:0000269 PubMed:10233777, ECO:0000269 PubMed:8170945}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa dystrophica, pretibial type (PR-DEB) [MIM:131850]: A form of dystrophic epidermolysis bullosa characterized by pretibial blisters that develop into prurigo-like hyperkeratotic lesions. It predominantly affects the pretibial areas, sparing the knees and other parts of the skin. Other clinical features include nail dystrophy, albopapuloid skin lesions, and hypertrophic scars without pretibial predominance. The phenotype shows considerable interindividual variability. Inheritance is autosomal dominant. {ECO:0000269 PubMed:8541842}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa dystrophica, with subcorneal cleavage (EBDSC) [MIM:131750]: A bullous skin disorder with variable sized clefts just beneath the level of the stratum corneum. Clinical features include blisters, milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement, as seen in dystrophic epidermolysis bullosa. {ECO:0000269 PubMed:11874498, ECO:0000269 PubMed:2653224}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]: A distinct clinical subtype of epidermolysis bullosa dystrophica. It is characterized by skin fragility, blistering, scar formation, intense pruritus and excoriated prurigo nodules. Onset is in early childhood, but in some cases is delayed until the second or third decade of life. Inheritance can be autosomal dominant or recessive. {ECO:0000269 PubMed:10383749, ECO:0000269 PubMed:11142768}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Nail disorder, non-syndromic congenital, 8 (NDNC8) [MIM:607523]: A nail disorder characterized by isolated toenail dystrophy. The nail changes are most severe in the great toes and consist of the nail plate being buried in the nail bed with a deformed and narrow free edge. {ECO:0000269 PubMed:11843659}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Epidermolysis bullosa acquisita (EBA) is an autoimmune acquired blistering skin disease resulting from autoantibodies to type VII collagen.
  • Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]: TBDN is a neonatal form of dystrophic epidermolysis bullosa characterized by sub-epidermal blisters, reduced or abnormal anchoring fibrils at the dermo-epidermal junction, and electron-dense inclusions in keratinocytes. TBDN heals spontaneously or strongly improves within the first months and years of life. {ECO:0000269 PubMed:9856844}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MIR711

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIR711
genes like me logo Genes that share disorders with MIR711: view

No data available for Genatlas for MIR711 Gene

Publications for MIR711 Gene

  1. RASSF1A inhibits gastric cancer cell proliferation by miR-711- mediated downregulation of CDK4 expression. (PMID: 26735582) Liao A. … Hu H. (Oncotarget 2016) 3 64
  2. Initial characterization of the human central proteome. (PMID: 21269460) Burkard T.R. … Colinge J. (BMC Syst. Biol. 2011) 4 64
  3. Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. (PMID: 20598510) Jerabkova B. … Fajkusova L. (J. Dermatol. Sci. 2010) 4 64
  4. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (PMID: 20108428) Garcia M. … Del Rio M. (Hum. Genet. 2010) 4 64
  5. TANGO1 facilitates cargo loading at endoplasmic reticulum exit sites. (PMID: 19269366) Saito K. … Malhotra V. (Cell 2009) 4 64

Products for MIR711 Gene

Sources for MIR711 Gene

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