Property Summary

NCBI Gene PubMed Count 97
Grant Count 83
R01 Count 64
Funding $8,922,841.32
PubMed Score 546.96
PubTator Score 519.52

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
malignant mesothelioma 1.500 0.000
cutaneous lupus erythematosus -1.400 0.018
psoriasis -1.400 0.000
osteosarcoma -1.422 0.000
non-small cell lung cancer 1.843 0.000
pancreatic cancer 1.700 0.000
lung adenocarcinoma 2.600 0.000
Breast cancer -3.400 0.000
breast carcinoma -1.400 0.000

Synonym

Accession Q9UMD9 Q02802 Q5JV36 Q99018 Q9NQK9 Q9UC14
Symbols ERED
BP180
BPA-2
BPAG2
LAD-1
BA16H23.2

Gene

Gene RIF (61)

PMID Text
26912707 The aging process can be recapitulated by Col17a1 deficiency and prevented by the forced maintenance of COL17A1 in hair follicle stem cell (HFSCs), demonstrating that COL17A1 in HFSCs orchestrates the stem cell-centric aging program of the epithelial mini-organ.
26786512 The COL17A1 c.3156C-->T variant is the likely causative mutation in our recurrent corneal erosion families, and its presence in 4 independent families suggests that it is prevalent in epithelial recurrent erosion dystrophy.
26604146 R1303Q in COL17 hampers C-terminal cleavage of COL17. Increase in remnants of non-cleaved COL17 ectodomain in extracellular matrix (ECM) induces aberrant laminin 332 deposition in ECM, which may be associated with disorganized basement membrane formation.
25797173 IgE anti-BP180 autoantibody level is increased in some Chinese patients with bullous pemphigoid.
25771164 Letter/Case Report: IgE BP180 antibodies contribute to the occurrence of urticarial erythema in bullous pemphigoid patients.
25758329 Elevated serum levels of BP180 antibodies in the first trimester of pregnancy precede gestational pemphigoid and remain elevated for a long time after remission of the disease.
25676728 Our findings implicate presumed gain-of-function COL17A1 mutations causing dominantly inherited ERED and improve understanding of the underlying pathology.
25623077 study reports for the first time the expression of collagen XVII in colon epithelium and the association of increased collagen XVII immunoexpression with poor outcome in colorectal carcinoma.
24676719 Circulating anti-BP180 autoantibodies are not correlated with severity of genital lichen sclerosis or itching.
24676568 Case Reports: two Japanese patients with bullous pemphigoid with only BP230 autoantibodies detected by ELISA.
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AA Sequence

MDVTKKNKRDGTEVTERIVTETVTTRLTSLPPKGGTSNGYAKTASLGGGSRLEKQSLTHGSSGYINSTGS      1 - 70
TRGHASTSSYRRAHSPASTLPNSPGSTFERKTHVTRHAYEGSSSGNSSPEYPRKEFASSSTRGRSQTRES     71 - 140
EIRVRLQSASPSTRWTELDDVKRLLKGSRSASVSPTRNSSNTLPIPKKGTVETKIVTASSQSVSGTYDAT    141 - 210
ILDANLPSHVWSSTLPAGSSMGTYHNNMTTQSSSLLNTNAYSAGSVFGVPNNMASCSPTLHPGLSTSSSV    211 - 280
FGMQNNLAPSLTTLSHGTTTTSTAYGVKKNMPQSPAAVNTGVSTSAACTTSVQSDDLLHKDCKFLILEKD    281 - 350
NTPAKKEMELLIMTKDSGKVFTASPASIAATSFSEDTLKKEKQAAYNADSGLKAEANGDLKTVSTKGKTT    351 - 420
TADIHSYGSSGGGGSGGGGGVGGAGGGPWGPAPAWCPCGSCCSWWKWLLGLLLTWLLLLGLLFGLIALAE    421 - 490
EVRKLKARVDELERIRRSILPYGDSMDRIEKDRLQGMAPAAGADLDKIGLHSDSQEELWMFVRKKLMMEQ    491 - 560
ENGNLRGSPGPKGDMGSPGPKGDRGFPGTPGIPGPLGHPGPQGPKGQKGSVGDPGMEGPMGQRGREGPMG    561 - 630
PRGEAGPPGSGEKGERGAAGEPGPHGPPGVPGSVGPKGSSGSPGPQGPPGPVGLQGLRGEVGLPGVKGDK    631 - 700
GPMGPPGPKGDQGEKGPRGLTGEPGMRGLPGAVGEPGAKGAMGPAGPDGHQGPRGEQGLTGMPGIRGPPG    701 - 770
PSGDPGKPGLTGPQGPQGLPGTPGRPGIKGEPGAPGKIVTSEGSSMLTVPGPPGPPGAMGPPGPPGAPGP    771 - 840
AGPAGLPGHQEVLNLQGPPGPPGPRGPPGPSIPGPPGPRGPPGEGLPGPPGPPGSFLSNSETFLSGPPGP    841 - 910
PGPPGPKGDQGPPGPRGHQGEQGLPGFSTSGSSSFGLNLQGPPGPPGPQGPKGDKGDPGVPGALGIPSGP    911 - 980
SEGGSSSTMYVSGPPGPPGPPGPPGSISSSGQEIQQYISEYMQSDSIRSYLSGVQGPPGPPGPPGPVTTI    981 - 1050
TGETFDYSELASHVVSYLRTSGYGVSLFSSSISSEDILAVLQRDDVRQYLRQYLMGPRGPPGPPGASGDG   1051 - 1120
SLLSLDYAELSSRILSYMSSSGISIGLPGPPGPPGLPGTSYEELLSLLRGSEFRGIVGPPGPPGPPGIPG   1121 - 1190
NVWSSISVEDLSSYLHTAGLSFIPGPPGPPGPPGPRGPPGVSGALATYAAENSDSFRSELISYLTSPDVR   1191 - 1260
SFIVGPPGPPGPQGPPGDSRLLSTDASHSRGSSSSSHSSSVRRGSSYSSSMSTGGGGAGSLGAGGAFGEA   1261 - 1330
AGDRGPYGTDIGPGGGYGAAAEGGMYAGNGGLLGADFAGDLDYNELAVRVSESMQRQGLLQGMAYTVQGP   1331 - 1400
PGQPGPQGPPGISKVFSAYSNVTADLMDFFQTYGAIQGPPGQKGEMGTPGPKGDRGPAGPPGHPGPPGPR   1401 - 1470
GHKGEKGDKGDQVYAGRRRRRSIAVKP                                              1471 - 1497
//

Text Mined References (102)

PMID Year Title
26912707 2016 Hair follicle aging is driven by transepidermal elimination of stem cells via COL17A1 proteolysis.
26786512 2016 A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.
26604146 2016 Extracellular cleavage of collagen XVII is essential for correct cutaneous basement membrane formation.
25797173 2015 Circulating IgE anti-BP180 autoantibody and its correlation to clinical and laboratorial aspects in bullous pemphigoid patients.
25771164 2015 Possible correlation of IgE autoantibody to BP180 with disease activity in bullous pemphigoid.
25758329 2015 Elevated serum levels of BP180 antibodies in the first trimester of pregnancy precede gestational pemphigoid and remain elevated for a long time after remission of the disease.
25676728 2015 Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).
25623077 2015 Collagen XVII expression correlates with the invasion and metastasis of colorectal cancer.
24676719 2014 Circulating anti-BP180 NC16a and anti-BP230 autoantibodies in patients with genital lichen sclerosus do not correlate with disease activity and pruritus.
24676568 2014 Characterization of two cases of bullous pemphigoid reactive only with BP230 on Japanese enzyme-linked immunosorbent assays.
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