ID:CO7A1_HUMAN DESCRIPTION: RecName: Full=Collagen alpha-1(VII) chain; AltName: Full=Long-chain collagen; Short=LC collagen; Flags: Precursor; 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. SUBUNIT: Homotrimer. Interacts with MIA3/TANGO1; facilitating its loading into transport carriers and subsequent secretion. INTERACTION: Q5JRA6:MIA3; NbExp=2; IntAct=EBI-724237, EBI-2291868; SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane. PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. DISEASE: Note=Epidermolysis bullosa acquisita (EBA) is an autoimmune acquired blistering skin disease resulting from autoantibodies to type VII collagen. DISEASE: Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]. DDEB defines 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. DISEASE: Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]. RDEB defines 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. DISEASE: Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica Pasini type (P-DEB) [MIM:131750]; also known as albopapuloid dominant dystrophic epidermolysis bullosa. P-DEB is 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. DISEASE: Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]. HS-DEB is the most severe recessive form and 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. DISEASE: Defects in COL7A1 are the cause of 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. DISEASE: Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica pretibial type (PR-DEB) [MIM:131850]. PR-DEB is 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. DISEASE: Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica Bart type (B-DEB) [MIM:132000]. B-DEB is an autosomal dominant form of dystrophic epidermolysis bullosa characterized by congenital localized absence of skin, skin fragility and deformity of nails. DISEASE: Defects in COL7A1 are the cause of epidermolysis bullosa pruriginosa (EBP) [MIM:604129]. EBP is a distinct clinical subtype of DEB. 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. DISEASE: Defects in COL7A1 are the cause of nail disorder non- syndromic congenital type 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. DISEASE: Defects in COL7A1 are the cause of 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. SIMILARITY: Contains 1 BPTI/Kunitz inhibitor domain. SIMILARITY: Contains 9 fibronectin type-III domains. SIMILARITY: Contains 2 VWFA domains. SEQUENCE CAUTION: Sequence=BAA02853.1; Type=Frameshift; Positions=275, 282, 476, 494, 523, 541, 543; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL7A1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00014 - Kunitz/Bovine pancreatic trypsin inhibitor domain PF00041 - Fibronectin type III domain PF00092 - von Willebrand factor type A domain PF01391 - Collagen triple helix repeat (20 copies) PF13519 - von Willebrand factor type A domain
SCOP Domains: 49363 - Purple acid phosphatase, N-terminal domain 49265 - Fibronectin type III 53300 - vWA-like 57362 - BPTI-like
ModBase Predicted Comparative 3D Structure on Q02388
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
LF208642 - JP 2014500723-A/16145: Polycomb-Associated Non-Coding RNAs. L02870 - Human alpha-1 type VII collagen (COL7A1) mRNA, complete cds. D13694 - Homo sapiens Col VII mRNA for type VII collagen, partial cds. M96984 - Homo sapiens type VII collagen mRNA, partial cds. S51236 - collagen VII {noncollagenous domain} [human, WISH cell line, mRNA Partial, 2661 nt]. MA444219 - JP 2018138019-A/16145: Polycomb-Associated Non-Coding RNAs. L06862 - Human type VII collagen (COL7A1) mRNA, 3' end. AB209645 - Homo sapiens mRNA for alpha 1 type VII collagen precursor variant protein. JD557949 - Sequence 538973 from Patent EP1572962. JD222983 - Sequence 204007 from Patent EP1572962. JD156821 - Sequence 137845 from Patent EP1572962. JD114006 - Sequence 95030 from Patent EP1572962. JD158118 - Sequence 139142 from Patent EP1572962. JD531812 - Sequence 512836 from Patent EP1572962. JD078330 - Sequence 59354 from Patent EP1572962. LF378637 - JP 2014500723-A/186140: Polycomb-Associated Non-Coding RNAs. LF378636 - JP 2014500723-A/186139: Polycomb-Associated Non-Coding RNAs. LF378635 - JP 2014500723-A/186138: Polycomb-Associated Non-Coding RNAs. LF378633 - JP 2014500723-A/186136: Polycomb-Associated Non-Coding RNAs. LF378630 - JP 2014500723-A/186133: Polycomb-Associated Non-Coding RNAs. LF378629 - JP 2014500723-A/186132: Polycomb-Associated Non-Coding RNAs. LF378628 - JP 2014500723-A/186131: Polycomb-Associated Non-Coding RNAs. LF378627 - JP 2014500723-A/186130: Polycomb-Associated Non-Coding RNAs. HZ408753 - JP 2015528002-A/1350: CHIRAL CONTROL. HZ460783 - WO 2015190584-A/280: Kit or device and method for detecting prostate cancer. HZ461452 - WO 2015190586-A/265: Kit and method for detecting colon cancer. HZ462190 - WO 2015190591-A/345: Kit and method for detecting breast cancer. HZ463154 - WO 2015194535-A/248: Kit and method for detecting stomach cancer. HZ463794 - WO 2015194610-A/230: Kit and method for detecting lung cancer. HZ465266 - WO 2015194627-A/319: Kit and method for detecting esophageal cancer. LG052087 - KR 1020150036642-A/1353: CHIRAL CONTROL. LP896790 - Sequence 1654 from Patent EP3253886. LY496449 - KR 1020170018406-A/319: ESOPHAGEAL CANCER DETECTION KIT OR DEVICE, AND DETECTION METHOD. LY497095 - KR 1020170016485-A/265: COLORECTAL CANCER DETECTION KIT OR DEVICE, AND DETECTION METHOD. LY497695 - KR 1020170018409-A/230: KIT OR DEVICE FOR DETECTING LUNG CANCER, AND LUNG CANCER DETECTION METHOD. LY499193 - KR 1020170018412-A/345: BREAST CANCER DETECTION KIT OR DEVICE, AND METHOD FOR DETECTING BREAST CANCER. LY499967 - KR 1020170019425-A/248: STOMACH CANCER DETECTION KIT OR DEVICE, AND DETECTION METHOD. LY500656 - KR 1020170016490-A/280: PROSTATE CANCER DETECTION KIT OR DEVICE, AND DETECTION METHOD. LZ238813 - WO 2017171048-A/474: Kit, device and method for detecting early pancreatic cancer or precancerous lesion of pancreas. MS869575 - Sequence 280 from Patent EP3156483. MS880508 - Sequence 345 from Patent EP3156498. MS884282 - Sequence 265 from Patent EP3156499. MS885086 - Sequence 248 from Patent EP3156503. MS994457 - Sequence 319 from Patent EP3159406. MS996761 - Sequence 230 from Patent EP3159416. LF378625 - JP 2014500723-A/186128: Polycomb-Associated Non-Coding RNAs. HI964789 - Sequence 74 from Patent WO2010139812. HW060389 - JP 2012527478-A/53: Identification of MicroRNAs Involved in Post-Myocardial Infarction Remodeling and Heart Failure. HW122350 - JP 2013504331-A/9: MICRO-RNA, AUTOANTIBODY AND PROTEIN MARKERS FOR DIAGNOSIS OF NEURONAL INJURY. HW799013 - WO 2014192907-A/119: Method for detecting miRNA used for differentiating disorders causing motor neuropathy. HW823949 - JP 2015502176-A/10: Methods and Kits for Detecting Subjects at Risk of Having Cancer. HZ074798 - JP 2013535982-A/889: Single-Stranded RNAi Agents Containing an Internal, Non-Nucleic Acid Spacer. HZ460598 - WO 2015190584-A/95: Kit or device and method for detecting prostate cancer. HZ461258 - WO 2015190586-A/71: Kit and method for detecting colon cancer. HZ461916 - WO 2015190591-A/71: Kit and method for detecting breast cancer. HZ462954 - WO 2015194535-A/48: Kit and method for detecting stomach cancer. HZ463620 - WO 2015194610-A/56: Kit and method for detecting lung cancer. HZ465051 - WO 2015194627-A/104: Kit and method for detecting esophageal cancer. HZ482574 - JP 2015535430-A/3080: TERMINALLY MODIFIED RNA. HZ792505 - JP 2016504050-A/4250: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES. JA400827 - Sequence 74 from Patent WO2011080318. JA401805 - Sequence 74 from Patent WO2011080315. JA402812 - Sequence 74 from Patent WO2011080316. JA405443 - Sequence 74 from Patent EP2336353. JA428969 - Sequence 74 from Patent WO2011095623. JB233521 - Sequence 53 from Patent EP2437750. JB249285 - Sequence 53 from Patent EP2478360. JB620983 - Sequence 963 from Patent WO2013063544. JC515237 - Sequence 5490 from Patent WO2014113089. LF161764 - JP 2016513950-A/1830: Oligomers with improved off-target profile. LF632712 - WO 2016117582-A/141: miRNA biomarkers for mental disorders. LQ072825 - Sequence 3149 from Patent EP2964234. LX280722 - JP 2016105097-A/9: MICRO-RNA, AUTOANTIBODY AND PROTEIN MARKERS FOR DIAGNOSIS OF NEURONAL INJURY. LY496234 - KR 1020170018406-A/104: ESOPHAGEAL CANCER DETECTION KIT OR DEVICE, AND DETECTION METHOD. LY496901 - KR 1020170016485-A/71: COLORECTAL CANCER DETECTION KIT OR DEVICE, AND DETECTION METHOD. LY497521 - KR 1020170018409-A/56: KIT OR DEVICE FOR DETECTING LUNG CANCER, AND LUNG CANCER DETECTION METHOD. LY498919 - KR 1020170018412-A/71: BREAST CANCER DETECTION KIT OR DEVICE, AND METHOD FOR DETECTING BREAST CANCER. LY499767 - KR 1020170019425-A/48: STOMACH CANCER DETECTION KIT OR DEVICE, AND DETECTION METHOD. LY500471 - KR 1020170016490-A/95: PROSTATE CANCER DETECTION KIT OR DEVICE, AND DETECTION METHOD. LZ234340 - JP 2017181518-A/9: MICRO-RNA, AUTOANTIBODY AND PROTEIN MARKERS FOR DIAGNOSIS OF NEURONAL INJURY. LZ238553 - WO 2017171048-A/214: Kit, device and method for detecting early pancreatic cancer or precancerous lesion of pancreas. MS833928 - Sequence 74 from Patent EP3112479. MS869390 - Sequence 95 from Patent EP3156483. MS880234 - Sequence 71 from Patent EP3156498. MS884088 - Sequence 71 from Patent EP3156499. MS884886 - Sequence 48 from Patent EP3156503. MS994242 - Sequence 104 from Patent EP3159406. MS996587 - Sequence 56 from Patent EP3159416. LF378624 - JP 2014500723-A/186127: Polycomb-Associated Non-Coding RNAs. LF378623 - JP 2014500723-A/186126: Polycomb-Associated Non-Coding RNAs. M65158 - Homo sapiens type VII collagen (COL7A1) mRNA, partial cds. MA646326 - JP 2017113010-A/4250: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES. MA734210 - JP 2017140048-A/3080: TERMINALLY MODIFIED RNA. LQ970600 - Sequence 10 from Patent EP2800820. MA614214 - JP 2018138019-A/186140: Polycomb-Associated Non-Coding RNAs. MA614213 - JP 2018138019-A/186139: Polycomb-Associated Non-Coding RNAs. MA614212 - JP 2018138019-A/186138: Polycomb-Associated Non-Coding RNAs. MA614210 - JP 2018138019-A/186136: Polycomb-Associated Non-Coding RNAs. MA614207 - JP 2018138019-A/186133: Polycomb-Associated Non-Coding RNAs. MA614206 - JP 2018138019-A/186132: Polycomb-Associated Non-Coding RNAs. MA614205 - JP 2018138019-A/186131: Polycomb-Associated Non-Coding RNAs. MA614204 - JP 2018138019-A/186130: Polycomb-Associated Non-Coding RNAs. MA614202 - JP 2018138019-A/186128: Polycomb-Associated Non-Coding RNAs. MA614201 - JP 2018138019-A/186127: Polycomb-Associated Non-Coding RNAs. MA614200 - JP 2018138019-A/186126: Polycomb-Associated Non-Coding RNAs. MA806129 - WO 2018199275-A/389: Kit, device and method for detection of ovary tumor. MA803379 - JP 2018183181-A/4250: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES. MA805854 - WO 2018199275-A/114: Kit, device and method for detection of ovary tumor. MA822815 - WO 2019004436-A/628: Kit, device, and method for detection of lung cancer. MA822480 - WO 2019004436-A/293: Kit, device, and method for detection of lung cancer. LY616577 - KR 1020180129785-A/474: KIT OR DEVICE FOR DETECTING EARLY STAGE PANCREATIC CANCER OR PANCREATIC CANCER PRECURSOR LESIONS AND DETECTION METHOD THEREFOR. LY616317 - KR 1020180129785-A/214: KIT OR DEVICE FOR DETECTING EARLY STAGE PANCREATIC CANCER OR PANCREATIC CANCER PRECURSOR LESIONS AND DETECTION METHOD THEREFOR. MB408341 - WO 2019163900-A/48: Method of analysis and diagnose using RNA modification. MB473050 - WO 2019208671-A/449: Kit or device and method for detecting bladder cancer. MB472819 - WO 2019208671-A/218: Kit or device and method for detecting bladder cancer. LF378619 - JP 2014500723-A/186122: Polycomb-Associated Non-Coding RNAs. LF378618 - JP 2014500723-A/186121: Polycomb-Associated Non-Coding RNAs. LF378617 - JP 2014500723-A/186120: Polycomb-Associated Non-Coding RNAs. JD422514 - Sequence 403538 from Patent EP1572962. MA614196 - JP 2018138019-A/186122: Polycomb-Associated Non-Coding RNAs. MA614195 - JP 2018138019-A/186121: Polycomb-Associated Non-Coding RNAs. MA614194 - JP 2018138019-A/186120: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q02388 (Reactome details) participates in the following event(s):
R-HSA-8944255 Association of procollagen type VII R-HSA-2002460 P4HB binds Collagen chains R-HSA-8948230 P3HB binds 4-Hyp-collagen propeptides R-HSA-2214330 Cleavage of collagen VII NC2 region by BMP1 R-HSA-5694427 MIA3 binds procollagen VII R-HSA-1650808 Prolyl 4-hydroxylase converts collagen prolines to 4-hydroxyprolines R-HSA-1980233 Collagen prolyl 3-hydroxylase converts 4-Hyp collagen to 3,4-Hyp collagen R-HSA-8948219 PLOD3 binds Lysyl hydroxylated collagen propeptides R-HSA-8948228 COLGALT1,COLGALT2 bind Lysyl hydroxylated collagen propeptides R-HSA-2214324 Collagen type VII dimerization R-HSA-2022073 Procollagen triple helix formation R-HSA-5694436 CTAGE5 and MIA3 dissociate from procollagen VII vesicle R-HSA-5694435 CTAGE5 and MIA3 load procollagen VII into COPII vesicles R-HSA-1981104 Procollagen lysyl hydroxylases convert collagen lysines to 5-hydroxylysines R-HSA-1981120 Galactosylation of collagen propeptide hydroxylysines by procollagen galactosyltransferases 1, 2. R-HSA-1981128 Galactosylation of collagen propeptide hydroxylysines by PLOD3 R-HSA-1981157 Glucosylation of collagen propeptide hydroxylysines R-HSA-5694522 Inner coat assembly and cargo binding R-HSA-5694527 Loss of SAR1B GTPase R-HSA-5694446 BET1:GOSR2:STX5 bind v-SNARES on tethered vesicle R-HSA-5694417 SEC16 complex binds SAR1B:GTP:SEC23:SEC24 R-HSA-5694441 CSNK1D phosphorylates SEC23 R-HSA-5694439 COPII coat binds TRAPPCII and RAB1:GDP R-HSA-203973 Vesicle budding R-HSA-204008 SEC31:SEC13 and v-SNARE recruitment R-HSA-5694418 RAB1:GTP binds USO1 and GORASP1:GOLGA2 R-HSA-5694409 Nucleotide exchange on RAB1 R-HSA-8948216 Collagen chain trimerization R-HSA-1650814 Collagen biosynthesis and modifying enzymes R-HSA-2214320 Anchoring fibril formation R-HSA-5694530 Cargo concentration in the ER R-HSA-1474290 Collagen formation R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures R-HSA-199977 ER to Golgi Anterograde Transport R-HSA-1474244 Extracellular matrix organization R-HSA-204005 COPII-mediated vesicle transport R-HSA-199991 Membrane Trafficking R-HSA-948021 Transport to the Golgi and subsequent modification R-HSA-5653656 Vesicle-mediated transport R-HSA-446203 Asparagine N-linked glycosylation R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
