COHA1_HUMAN » Collagen alpha-1(XVII) chain

COHA1_HUMAN » Collagen alpha-1(XVII) chain
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
COHA1_HUMAN » Collagen alpha-1(XVII) chain » 180 kDa bullous pemphigoid antigen 2;Bullous pemphigoid antigen 2;
Hydrophobic Thickness 34.8 ± 2.8 Å
Tilt Angle 34 ± 2°
ΔGtransfer -31.2 kcal/mol
ΔGfold -25.7 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology In
TM Segments 467-493 (463-497)
Pathways

Cell-Cell communication (Reactome)

Extracellular matrix organization (Reactome)

Protein digestion and absorption (KEGG)

PDB none
OPM none
Complexes none
Interactions

CSTN1, Complex: COHA1:CSTN1, PubMed

DYST, Complex: COHA1:DYST, PubMed

EGFR, Complex: COHA1:EGFR, PubMed

ITA6, Complex: COHA1:ITA6, PubMed

ITB4, Complex: COHA1:ITB4, PubMed

Domains

AA: 561-624, PDBID: 3GXE, Subunit F, Seq Identity:44%, Collagen triple helix repeat (20 copies)

AA: 749-809, PDBID: 2JG8, Subunit B, Seq Identity:46%, Collagen triple helix repeat (20 copies)

AA: 1434-1488, PDBID: 2JG8, Subunit C, Seq Identity:45%, Collagen triple helix repeat (20 copies)

UniProt annotation for COHA1_HUMAN » Collagen alpha-1(XVII) chain
FUNCTION: May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.

FUNCTION: The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies.

SUBUNIT: Homotrimers of alpha 1(XVII)chains. Interacts (via cytoplasmic region) with ITGB4 (via cytoplasmic region). Interacts (via cytoplasmic region) with DST isoform 3 (via N-terminus). Interacts (via N-terminus) with PLEC. Interacts (via cytoplasmic region) with DSP.

TISSUE SPECIFICITY: Stratified squamous epithelia. Found in hemidesmosomes. Expressed in cornea, oral mucosa, esophagus, intestine, kidney collecting ducts, ureter, bladder, urethra and thymus but is absent in lung, blood vessels, skeletal muscle and nerves.

DISEASE: Generalized atrophic benign epidermolysis bullosa (GABEB) OMIM: A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. mutations affecting the gene represented in this entry.

MISCELLANEOUS: Both the 120 kDa linear IgA disease antigen and the 97 kDa linear IgA disease antigen of COL17A1, represent major antigenic targets of autoantibodies in patients with linear IgA disease (LAD). LAD is a subepidermal blistering disorder characterized by tissue-bound and circulating IgA autoantibodies to the dermal-epidermal junction. These IgA autoantibodies preferentially react with 97 and the 120 kDa forms, but not with the full-length COL17A1, suggesting that the cleavage of the ectodomain generates novel autoantigenic epitopes.

UniProt features for COHA1_HUMAN » Collagen alpha-1(XVII) chain
CHAIN 1 1497 Collagen alpha-1(XVII) chain.
CHAIN 524 1497 120 kDa linear IgA disease antigen.
CHAIN 531 ? 97 kDa linear IgA disease antigen.
REGION 1 566 Nonhelical region (NC16).
REGION 145 230 Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.
REGION 567 1482 Triple-helical region.
REGION 1483 1497 Nonhelical region (NC1).
Amino Acid Sequence for COHA1_HUMAN » Collagen alpha-1(XVII) chain
MDVTKKNKRD GTEVTERIVT ETVTTRLTSL PPKGGTSNGY AKTASLGGGS RLEKQSLTHG SSGYINSTGS TRGHASTSSY RRAHSPASTL PNSPGSTFER KTHVTRHAYE GSSSGNSSPE YPRKEFASSS TRGRSQTRES EIRVRLQSAS PSTRWTELDD VKRLLKGSRS ASVSPTRNSS NTLPIPKKGT VETKIVTASS QSVSGTYDAT ILDANLPSHV WSSTLPAGSS MGTYHNNMTT QSSSLLNTNA YSAGSVFGVP NNMASCSPTL HPGLSTSSSV FGMQNNLAPS LTTLSHGTTT TSTAYGVKKN MPQSPAAVNT GVSTSAACTT SVQSDDLLHK DCKFLILEKD NTPAKKEMEL LIMTKDSGKV FTASPASIAA TSFSEDTLKK EKQAAYNADS GLKAEANGDL KTVSTKGKTT TADIHSYGSS GGGGSGGGGG VGGAGGGPWG PAPAWCPCGS CCSWWKWLLG LLLTWLLLLG LLFGLIALAE EVRKLKARVD ELERIRRSIL PYGDSMDRIE KDRLQGMAPA AGADLDKIGL HSDSQEELWM FVRKKLMMEQ ENGNLRGSPG PKGDMGSPGP KGDRGFPGTP GIPGPLGHPG PQGPKGQKGS VGDPGMEGPM GQRGREGPMG PRGEAGPPGS GEKGERGAAG EPGPHGPPGV PGSVGPKGSS GSPGPQGPPG PVGLQGLRGE VGLPGVKGDK GPMGPPGPKG DQGEKGPRGL TGEPGMRGLP GAVGEPGAKG AMGPAGPDGH QGPRGEQGLT GMPGIRGPPG PSGDPGKPGL TGPQGPQGLP GTPGRPGIKG EPGAPGKIVT SEGSSMLTVP GPPGPPGAMG PPGPPGAPGP AGPAGLPGHQ EVLNLQGPPG PPGPRGPPGP SIPGPPGPRG PPGEGLPGPP GPPGSFLSNS ETFLSGPPGP PGPPGPKGDQ GPPGPRGHQG EQGLPGFSTS GSSSFGLNLQ GPPGPPGPQG PKGDKGDPGV PGALGIPSGP SEGGSSSTMY VSGPPGPPGP PGPPGSISSS GQEIQQYISE YMQSDSIRSY LSGVQGPPGP PGPPGPVTTI TGETFDYSEL ASHVVSYLRT SGYGVSLFSS SISSEDILAV LQRDDVRQYL RQYLMGPRGP PGPPGASGDG SLLSLDYAEL SSRILSYMSS SGISIGLPGP PGPPGLPGTS YEELLSLLRG SEFRGIVGPP GPPGPPGIPG NVWSSISVED LSSYLHTAGL SFIPGPPGPP GPPGPRGPPG VSGALATYAA ENSDSFRSEL ISYLTSPDVR SFIVGPPGPP GPQGPPGDSR LLSTDASHSR GSSSSSHSSS VRRGSSYSSS MSTGGGGAGS LGAGGAFGEA AGDRGPYGTD IGPGGGYGAA AEGGMYAGNG GLLGADFAGD LDYNELAVRV SESMQRQGLL QGMAYTVQGP PGQPGPQGPP GISKVFSAYS NVTADLMDFF QTYGAIQGPP GQKGEMGTPG PKGDRGPAGP PGHPGPPGPR GHKGEKGDKG DQVYAGRRRR RSIAVKP