DST
Dystonin
Also known as: BP240, BPA, BPAG1, CATX-15, DYST_HUMAN, FLJ13425, FLJ21489, FLJ30627, FLJ32235, KIAA0728, MACF2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q03001
- Gene
- DST
- Ensembl
- ENSG00000151914
- Chromosome
- 6
- Canonical length
- 7570 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Microtubules,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010]
Canonical amino-acid sequenceUniProt
7570 residues, UniProt reviewed canonical sequence.
>Q03001|DST
1 MAGYLSPAAY LYVEEQEYLQ AYEDVLERYK DERDKVQKKT FTKWINQHLM KVRKHVNDLY
61 EDLRDGHNLI SLLEVLSGDT LPREKGRMRF HRLQNVQIAL DYLKRRQVKL VNIRNDDITD
121 GNPKLTLGLI WTIILHFQIS DIHVTGESED MSAKERLLLW TQQATEGYAG IRCENFTTCW
181 RDGKLFNAII HKYRPDLIDM NTVAVQSNLA NLEHAFYVAE KIGVIRLLDP EDVDVSSPDE
241 KSVITYVSSL YDAFPKVPEG GEGIGANDVE VKWIEYQNMV NYLIQWIRHH VTTMSERTFP
301 NNPVELKALY NQYLQFKETE IPPKETEKSK IKRLYKLLEI WIEFGRIKLL QGYHPNDIEK
361 EWGKLIIAML EREKALRPEV ERLEMLQQIA NRVQRDSVIC EDKLILAGNA LQSDSKRLES
421 GVQFQNEAEI AGYILECENL LRQHVIDVQI LIDGKYYQAD QLVQRVAKLR DEIMALRNEC
481 SSVYSKGRIL TTEQTKLMIS GITQSLNSGF AQTLHPSLTS GLTQSLTPSL TSSSMTSGLS
541 SGMTSRLTPS VTPAYTPGFP SGLVPNFSSG VEPNSLQTLK LMQIRKPLLK SSLLDQNLTE
601 EEINMKFVQD LLNWVDEMQV QLDRTEWGSD LPSVESHLEN HKNVHRAIEE FESSLKEAKI
661 SEIQMTAPLK LTYAEKLHRL ESQYAKLLNT SRNQERHLDT LHNFVSRATN ELIWLNEKEE
721 EEVAYDWSER NTNIARKKDY HAELMRELDQ KEENIKSVQE IAEQLLLENH PARLTIEAYR
781 AAMQTQWSWI LQLCQCVEQH IKENTAYFEF FNDAKEATDY LRNLKDAIQR KYSCDRSSSI
841 HKLEDLVQES MEEKEELLQY KSTIANLMGK AKTIIQLKPR NSDCPLKTSI PIKAICDYRQ
901 IEITIYKDDE CVLANNSHRA KWKVISPTGN EAMVPSVCFT VPPPNKEAVD LANRIEQQYQ
961 NVLTLWHESH INMKSVVSWH YLINEIDRIR ASNVASIKTM LPGEHQQVLS NLQSRFEDFL
1021 EDSQESQVFS GSDITQLEKE VNVCKQYYQE LLKSAEREEQ EESVYNLYIS EVRNIRLRLE
1081 NCEDRLIRQI RTPLERDDLH ESVFRITEQE KLKKELERLK DDLGTITNKC EEFFSQAAAS
1141 SSVPTLRSEL NVVLQNMNQV YSMSSTYIDK LKTVNLVLKN TQAAEALVKL YETKLCEEEA
1201 VIADKNNIEN LISTLKQWRS EVDEKRQVFH ALEDELQKAK AISDEMFKTY KERDLDFDWH
1261 KEKADQLVER WQNVHVQIDN RLRDLEGIGK SLKYYRDTYH PLDDWIQQVE TTQRKIQENQ
1321 PENSKTLATQ LNQQKMLVSE IEMKQSKMDE CQKYAEQYSA TVKDYELQTM TYRAMVDSQQ
1381 KSPVKRRRMQ SSADLIIQEF MDLRTRYTAL VTLMTQYIKF AGDSLKRLEE EEKSLEEEKK
1441 EHVEKAKELQ KWVSNISKTL KDAEKAGKPP FSKQKISSEE ISTKKEQLSE ALQTIQLFLA
1501 KHGDKMTDEE RNELEKQVKT LQESYNLLFS ESLKQLQESQ TSGDVKVEEK LDKVIAGTID
1561 QTTGEVLSVF QAVLRGLIDY DTGIRLLETQ LMISGLISPE LRKCFDLKDA KSHGLIDEQI
1621 LCQLKELSKA KEIISAASPT TIPVLDALAQ SMITESMAIK VLEILLSTGS LVIPATGEQL
1681 TLQKAFQQNL VSSALFSKVL ERQNMCKDLI DPCTSEKVSL IDMVQRSTLQ ENTGMWLLPV
1741 RPQEGGRITL KCGRNISILR AAHEGLIDRE TMFRLLSAQL LSGGLINSNS GQRMTVEEAV
1801 REGVIDRDTA SSILTYQVQT GGIIQSNPAK RLTVDEAVQC DLITSSSALL VLEAQRGYVG
1861 LIWPHSGEIF PTSSSLQQEL ITNELAYKIL NGRQKIAALY IPESSQVIGL DAAKQLGIID
1921 NNTASILKNI TLPDKMPDLG DLEACKNARR WLSFCKFQPS TVHDYRQEED VFDGEEPVTT
1981 QTSEETKKLF LSYLMINSYM DANTGQRLLL YDGDLDEAVG MLLEGCHAEF DGNTAIKECL
2041 DVLSSSGVFL NNASGREKDE CTATPSSFNK CHCGEPEHEE TPENRKCAID EEFNEMRNTV
2101 INSEFSQSGK LASTISIDPK VNSSPSVCVP SLISYLTQTE LADISMLRSD SENILTNYEN
2161 QSRVETNERA NECSHSKNIQ NFPSDLIENP IMKSKMSKFC GVNETENEDN TNRDSPIFDY
2221 SPRLSALLSH DKLMHSQGSF NDTHTPESNG NKCEAPALSF SDKTMLSGQR IGEKFQDQFL
2281 GIAAINISLP GEQYGQKSLN MISSNPQVQY HNDKYISNTS GEDEKTHPGF QQMPEDKEDE
2341 SEIEEYSCAV TPGGDTDNAI VSLTCATPLL DETISASDYE TSLLNDQQNN TGTDTDSDDD
2401 FYDTPLFEDD DHDSLLLDGD DRDCLHPEDY DTLQEENDET ASPADVFYDV SKENENSMVP
2461 QGAPVGSLSV KNKAHCLQDF LMDVEKDELD SGEKIHLNPV GSDKVNGQSL ETGSERECTN
2521 ILEGDESDSL TDYDIVGGKE SFTASLKFDD SGSWRGRKEE YVTGQEFHSD TDHLDSMQSE
2581 ESYGDYIYDS NDQDDDDDDG IDEEGGGIRD ENGKPRCQNV AEDMDIQLCA SILNENSDEN
2641 ENINTMILLD KMHSCSSLEK QQRVNVVQLA SPSENNLVTE KSNLPEYTTE IAGKSKENLL
2701 NHEMVLKDVL PPIIKDTESE KTFGPASISH DNNNISSTSE LGTDLANTKV KLIQGSELPE
2761 LTDSVKGKDE YFKNMTPKVD SSLDHIICTE PDLIGKPAEE SHLSLIASVT DKDPQGNGSD
2821 LIKGRDGKSD ILIEDETSIQ KMYLGEGEVL VEGLVEEENR HLKLLPGKNT RDSFKLINSQ
2881 FPFPQITNNE ELNQKGSLKK ATVTLKDEPN NLQIIVSKSP VQFENLEEIF DTSVSKEISD
2941 DITSDITSWE GNTHFEESFT DGPEKELDLF TYLKHCAKNI KAKDVAKPNE DVPSHVLITA
3001 PPMKEHLQLG VNNTKEKSTS TQKDSPLNDM IQSNDLCSKE SISGGGTEIS QFTPESIEAT
3061 LSILSRKHVE DVGKNDFLQS ERCANGLGND NSSNTLNTDY SFLEINNKKE RIEQQLPKEQ
3121 ALSPRSQEKE VQIPELSQVF VEDVKDILKS RLKEGHMNPQ EVEEPSACAD TKILIQNLIK
3181 RITTSQLVNE ASTVPSDSQM SDSSGVSPMT NSSELKPESR DDPFCIGNLK SELLLNILKQ
3241 DQHSQKITGV FELMRELTHM EYDLEKRGIT SKVLPLQLEN IFYKLLADGY SEKIEHVGDF
3301 NQKACSTSEM MEEKPHILGD IKSKEGNYYS PNLETVKEIG LESSTVWAST LPRDEKLKDL
3361 CNDFPSHLEC TSGSKEMASG DSSTEQFSSE LQQCLQHTEK MHEYLTLLQD MKPPLDNQES
3421 LDNNLEALKN QLRQLETFEL GLAPIAVILR KDMKLAEEFL KSLPSDFPRG HVEELSISHQ
3481 SLKTAFSSLS NVSSERTKQI MLAIDSEMSK LAVSHEEFLH KLKSFSDWVS EKSKSVKDIE
3541 IVNVQDSEYV KKRLEFLKNV LKDLGHTKMQ LETTAFDVQF FISEYAQDLS PNQSKQLLRL
3601 LNTTQKCFLD VQESVTTQVE RLETQLHLEQ DLDDQKIVAE RQQEYKEKLQ GICDLLTQTE
3661 NRLIGHQEAF MIGDGTVELK KYQSKQEELQ KDMQGSAQAL AEVVKNTENF LKENGEKLSQ
3721 EDKALIEQKL NEAKIKCEQL NLKAEQSKKE LDKVVTTAIK EETEKVAAVK QLEESKTKIE
3781 NLLDWLSNVD KDSERAGTKH KQVIEQNGTH FQEGDGKSAI GEEDEVNGNL LETDVDGQVG
3841 TTQENLNQQY QKVKAQHEKI ISQHQAVIIA TQSAQVLLEK QGQYLSPEEK EKLQKNMKEL
3901 KVHYETALAE SEKKMKLTHS LQEELEKFDA DYTEFEHWLQ QSEQELENLE AGADDINGLM
3961 TKLKRQKSFS EDVISHKGDL RYITISGNRV LEAAKSCSKR DGGKVDTSAT HREVQRKLDH
4021 ATDRFRSLYS KCNVLGNNLK DLVDKYQHYE DASCGLLAGL QACEATASKH LSEPIAVDPK
4081 NLQRQLEETK ALQGQISSQQ VAVEKLKKTA EVLLDARGSL LPAKNDIQKT LDDIVGRYED
4141 LSKSVNERNE KLQITLTRSL SVQDGLDEML DWMGNVESSL KEQGQVPLNS TALQDIISKN
4201 IMLEQDIAGR QSSINAMNEK VKKFMETTDP STASSLQAKM KDLSARFSEA SHKHKETLAK
4261 MEELKTKVEL FENLSEKLQT FLETKTQALT EVDVPGKDVT ELSQYMQEST SEFLEHKKHL
4321 EVLHSLLKEI SSHGLPSDKA LVLEKTNNLS KKFKEMEDTI KEKKEAVTSC QEQLDAFQVL
4381 VKSLKSWIKE TTKKVPIVQP SFGAEDLGKS LEDTKKLQEK WSLKTPEIQK VNNSGISLCN
4441 LISAVTTPAK AIAAVKSGGA VLNGEGTATN TEEFWANKGL TSIKKDMTDI SHGYEDLGLL
4501 LKDKIAELNT KLSKLQKAQE ESSAMMQWLQ KMNKTATKWQ QTPAPTDTEA VKTQVEQNKS
4561 FEAELKQNVN KVQELKDKLT ELLEENPDTP EAPRWKQMLT EIDSKWQELN QLTIDRQQKL
4621 EESSNNLTQF QTVEAQLKQW LVEKELMVSV LGPLSIDPNM LNTQRQQVQI LLQEFATRKP
4681 QYEQLTAAGQ GILSRPGEDP SLRGIVKEQL AAVTQKWDSL TGQLSDRCDW IDQAIVKSTQ
4741 YQSLLRSLSD KLSDLDNKLS SSLAVSTHPD AMNQQLETAQ KMKQEIQQEK KQIKVAQALC
4801 EDLSALVKEE YLKAELSRQL EGILKSFKDV EQKAENHVQH LQSACASSHQ FQQMSRDFQA
4861 WLDTKKEEQN KSHPISAKLD VLESLIKDHK DFSKTLTAQS HMYEKTIAEG ENLLLKTQGS
4921 EKAALQLQLN TIKTNWDTFN KQVKERENKL KESLEKALKY KEQVETLWPW IDKCQNNLEE
4981 IKFCLDPAEG ENSIAKLKSL QKEMDQHFGM VELLNNTANS LLSVCEIDKE VVTDENKSLI
5041 QKVDMVTEQL HSKKFCLENM TQKFKEFQEV SKESKRQLQC AKEQLDIHDS LGSQAYSNKY
5101 LTMLQTQQKS LQALKHQVDL AKRLAQDLVV EASDSKGTSD VLLQVETIAQ EHSTLSQQVD
5161 EKCSFLETKL QGIGHFQNTI REMFSQFAEF DDELDSMAPV GRDAETLQKQ KETIKAFLKK
5221 LEALMASNDN ANKTCKMMLA TEETSPDLVG IKRDLEALSK QCNKLLDRAQ AREEQVEGTI
5281 KRLEEFYSKL KEFSILLQKA EEHEESQGPV GMETETINQQ LNMFKVFQKE EIEPLQGKQQ
5341 DVNWLGQGLI QSAAKSTSTQ GLEHDLDDVN ARWKTLNKKV AQRAAQLQEA LLHCGRFQDA
5401 LESLLSWMVD TEELVANQKP PSAEFKVVKA QIQEQKLLQR LLDDRKSTVE VIKREGEKIA
5461 TTAEPADKVK ILKQLSLLDS RWEALLNKAE TRNRQLEGIS VVAQQFHETL EPLNEWLTTI
5521 EKRLVNCEPI GTQASKLEEQ IAQHKALEDD IINHNKHLHQ AVSIGQSLKV LSSREDKDMV
5581 QSKLDFSQVW YIEIQEKSHS RSELLQQALC NAKIFGEDEV ELMNWLNEVH DKLSKLSVQD
5641 YSTEGLWKQQ SELRVLQEDI LLRKQNVDQA LLNGLELLKQ TTGDEVLIIQ DKLEAIKARY
5701 KDITKLSTDV AKTLEQALQL ARRLHSTHEE LCTWLDKVEV ELLSYETQVL KGEEASQAQM
5761 RPKELKKEAK NNKALLDSLN EVSSALLELV PWRAREGLEK MVAEDNERYR LVSDTITQKV
5821 EEIDAAILRS QQFDQAADAE LSWITETEKK LMSLGDIRLE QDQTSAQLQV QKTFTMEILR
5881 HKDIIDDLVK SGHKIMTACS EEEKQSMKKK LDKVLKNYDT ICQINSERYL QLERAQSLVN
5941 QFWETYEELW PWLTETQSII SQLPAPALEY ETLRQQQEEH RQLRELIAEH KPHIDKMNKT
6001 GPQLLELSPG EGFSIQEKYV AADTLYSQIK EDVKKRAVAL DEAISQSTQF HDKIDQILES
6061 LERIVERLRQ PPSISAEVEK IKEQISENKN VSVDMEKLQP LYETLKQRGE EMIARSGGTD
6121 KDISAKAVQD KLDQMVFIWE NIHTLVEERE AKLLDVMELA EKFWCDHMSL IVTIKDTQDF
6181 IRDLEDPGID PSVVKQQQEA AETIREEIDG LQEELDIVIN LGSELIAACG EPDKPIVKKS
6241 IDELNSAWDS LNKAWKDRID KLEEAMQAAV QYQDGLQAVF DWVDIAGGKL ASMSPIGTDL
6301 ETVKQQIEEL KQFKSEAYQQ QIEMERLNHQ AELLLKKVTE ESDKHTVQDP LMELKLIWDS
6361 LEERIINRQH KLEGALLALG QFQHALDELL AWLTHTEGLL SEQKPVGGDP KAIEIELAKH
6421 HVLQNDVLAH QSTVEAVNKA GNDLIESSAG EEASNLQNKL EVLNQRWQNV LEKTEQRKQQ
6481 LDGALRQAKG FHGEIEDLQQ WLTDTERHLL ASKPLGGLPE TAKEQLNVHM EVCAAFEAKE
6541 ETYKSLMQKG QQMLARCPKS AETNIDQDIN NLKEKWESVE TKLNERKTKL EEALNLAMEF
6601 HNSLQDFINW LTQAEQTLNV ASRPSLILDT VLFQIDEHKV FANEVNSHRE QIIELDKTGT
6661 HLKYFSQKQD VVLIKNLLIS VQSRWEKVVQ RLVERGRSLD DARKRAKQFH EAWSKLMEWL
6721 EESEKSLDSE LEIANDPDKI KTQLAQHKEF QKSLGAKHSV YDTTNRTGRS LKEKTSLADD
6781 NLKLDDMLSE LRDKWDTICG KSVERQNKLE EALLFSGQFT DALQALIDWL YRVEPQLAED
6841 QPVHGDIDLV MNLIDNHKAF QKELGKRTSS VQALKRSARE LIEGSRDDSS WVKVQMQELS
6901 TRWETVCALS ISKQTRLEAA LRQAEEFHSV VHALLEWLAE AEQTLRFHGV LPDDEDALRT
6961 LIDQHKEFMK KLEEKRAELN KATTMGDTVL AICHPDSITT IKHWITIIRA RFEEVLAWAK
7021 QHQQRLASAL AGLIAKQELL EALLAWLQWA ETTLTDKDKE VIPQEIEEVK ALIAEHQTFM
7081 EEMTRKQPDV DKVTKTYKRR AADPSSLQSH IPVLDKGRAG RKRFPASSLY PSGSQTQIET
7141 KNPRVNLLVS KWQQVWLLAL ERRRKLNDAL DRLEELREFA NFDFDIWRKK YMRWMNHKKS
7201 RVMDFFRRID KDQDGKITRQ EFIDGILSSK FPTSRLEMSA VADIFDRDGD GYIDYYEFVA
7261 ALHPNKDAYK PITDADKIED EVTRQVAKCK CAKRFQVEQI GDNKYRFFLG NQFGDSQQLR
7321 LVRILRSTVM VRVGGGWMAL DEFLVKNDPC RVHHHGSKML RSESNSSITT TQPTIAKGRT
7381 NMELREKFIL ADGASQGMAA FRPRGRRSRP SSRGASPNRS TSVSSQAAQA ASPQVPATTT
7441 PKGTPIQGSK LRLPGYLSGK GFHSGEDSGL ITTAAARVRT QFADSKKTPS RPGSRAGSKA
7501 GSRASSRRGS DASDFDISEI QSVCSDVETV PQTHRPTPRA GSRPSTAKPS KIPTPQRKSP
7561 ASKLDKSSKRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DST can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0
- Highest tissue expression
- 258 nTPM
Expression across tissuesHPA
Tissue
- midbrain: 258 nTPM
- spinal cord: 229 nTPM
- basal ganglia: 198 nTPM
- amygdala: 185 nTPM
- hippocampal formation: 185 nTPM
- colon: 177 nTPM
Single-cell type
- basal keratinocytes: 4,071 nCPM
- salivary myoepithelial cells: 2,558 nCPM
- podocytes: 1,830 nCPM
- oligodendrocytes: 1,791 nCPM
- myonuclei: 1,722 nCPM
- alveolar cells type 1: 1,658 nCPM
Immune cell
- plasmacytoid DC: 1.2 nTPM
- NK-cell: 0.9 nTPM
- myeloid DC: 0.8 nTPM
- classical monocyte: 0.7 nTPM
- intermediate monocyte: 0.3 nTPM
- non-classical monocyte: 0.3 nTPM
Brain region
- white matter: 510 nTPM
- basal ganglia: 419 nTPM
- medulla oblongata: 401 nTPM
- midbrain: 378 nTPM
- pons: 365 nTPM
- cerebellum: 354 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DST.
Disease | AllUniProt
Conditions DST is implicated in, by any mechanism.
- Neuropathy, hereditary sensory and autonomic, 6 (HSAN6) MIM:614653
- Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency (EBS3) MIM:615425
Disease | GeneticClinVar
200 pathogenic / likely-pathogenic of 4,102 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hereditary sensory and autonomic neuropathy type 6
- Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
- Inborn genetic diseases
- Congenital myopathy 29 with contractures
- DST-related disorder
Disease | ImmuneIEDB
Conditions an epitope on DST was assayed in.
- pemphigus B cell
Disease | AutoantibodyPubMed
Conditions in which antibodies against DST are reported. Each links to that disease's full target list.
Showing 4 of 7 — disease pages carrying at least 10 antigens.
ReferencesPubMed · IEDB
Publications for DST from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.
Reference: AutoantibodyPubMed
135 publications
- Evaluation of Dupilumab in Patients With Bullous Pemphigoid.
2023 · JAMA Dermatol · RCR 10.5 · 74 citations - Bullous Pemphigoid Severity and Levels of Antibodies to BP180 and BP230: A Systematic Review and Meta-Analysis.
2024 · JAMA Dermatol · RCR 6.1 · 16 citations - What's new in the pathogeneses and triggering factors of bullous pemphigoid.
2023 · J Dermatol · RCR 5.5 · 35 citations - International validation of the Bullous Pemphigoid Disease Area Index severity score and calculation of cut-off values for defining mild, moderate and severe types of bullous pemphigoid.
2021 · Br J Dermatol · RCR 5.4 · 55 citations - The Role of Eosinophils in Bullous Pemphigoid: A Developing Model of Eosinophil Pathogenicity in Mucocutaneous Disease.
2018 · Front Med (Lausanne) · RCR 4.8 · 99 citations
Show 20 more of 135 total
- Modern diagnosis of autoimmune blistering skin diseases.
2010 · Autoimmun Rev · RCR 4.7 · 134 citations - Human autoantibodies against the 230-kD bullous pemphigoid antigen (BPAG1) bind only to the intracellular domain of the hemidesmosome, whereas those against the 180-kD bullous pemphigoid antigen (BPAG2) bind along the plasma membrane of the hemidesmosome in normal human and swine skin.
1993 · J Clin Invest · RCR 4.7 · 154 citations - Detection of IgE autoantibodies to BP180 and BP230 and their relationship to clinical features in bullous pemphigoid.
2017 · Br J Dermatol · RCR 4 · 77 citations - Bullous Pemphigoid Associated With COVID-19 Vaccines: An Italian Multicentre Study.
2022 · Front Med (Lausanne) · RCR 3.9 · 36 citations - Cytoplasmic domain of the 180-kD bullous pemphigoid antigen, a hemidesmosomal component: molecular and cell biologic characterization.
1992 · J Invest Dermatol · RCR 3.8 · 134 citations - Enzyme-linked immunosorbent assay using bacterial recombinant proteins of human BP230 as a diagnostic tool for bullous pemphigoid.
2006 · J Dermatol Sci · RCR 3.6 · 109 citations - Regulatory T-cell deficiency leads to pathogenic bullous pemphigoid antigen 230 autoantibody and autoimmune bullous disease.
2018 · J Allergy Clin Immunol · RCR 3.6 · 78 citations - Usefulness of BP230 and BP180-NC16a enzyme-linked immunosorbent assays in the initial diagnosis of bullous pemphigoid: a retrospective study of 138 patients.
2011 · Arch Dermatol · RCR 3.4 · 82 citations - Human eosinophils express the high affinity IgE receptor, FcεRI, in bullous pemphigoid.
2014 · PLoS One · RCR 3.3 · 82 citations - Correlation of IgE autoantibody to BP180 with a severe form of bullous pemphigoid.
2008 · Arch Dermatol · RCR 3.2 · 104 citations - Prevalence and clinical significance of anti-laminin 332 autoantibodies detected by a novel enzyme-linked immunosorbent assay in mucous membrane pemphigoid.
2013 · JAMA Dermatol · RCR 3.1 · 71 citations - IgE-mediated mechanisms in bullous pemphigoid and other autoimmune bullous diseases.
2016 · Expert Rev Clin Immunol · RCR 3 · 64 citations - Clinical and immunologic factors associated with bullous pemphigoid relapse during the first year of treatment: a multicenter, prospective study.
2014 · JAMA Dermatol · RCR 3 · 67 citations - Anti-BP180 autoantibodies as a marker of poor prognosis in bullous pemphigoid: a cohort analysis of 94 elderly patients.
1997 · Br J Dermatol · RCR 2.9 · 71 citations - Epitope mapping of BP230 leading to a novel enzyme-linked immunosorbent assay for autoantibodies in bullous pemphigoid.
2012 · Br J Dermatol · RCR 2.7 · 67 citations - Serum levels of IgE anti-BP180 and anti-BP230 autoantibodies in patients with bullous pemphigoid.
2008 · J Dermatol Sci · RCR 2.5 · 84 citations - Disease Endotypes Predict the Severity of Mucous Membrane Pemphigoid.
2023 · J Invest Dermatol · RCR 2.4 · 8 citations - BPDAI and ABSIS correlate with serum anti-BP180 NC16A IgG but not with anti-BP230 IgG in patients with bullous pemphigoid.
2018 · Arch Dermatol Res · RCR 2.4 · 37 citations - Childhood vulval pemphigoid: a clinical and immunopathological study of five patients.
1999 · Br J Dermatol · RCR 2.3 · 46 citations - BP180- and BP230-specific IgG autoantibodies in pruritic disorders of the elderly: a preclinical stage of bullous pemphigoid?
2014 · Br J Dermatol · RCR 2.2 · 48 citations
Reference: B cellIEDB
1 publication
- Epitopes in the linker subdomain region of envoplakin recognized by autoantibodies in paraneoplastic pemphigus patients.
2006 · J Invest Dermatol · RCR 1.2 · 34 citations
Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.18
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.22
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell adhesion
- cell motility
- cytoskeleton organization
- hemidesmosome assembly
- integrin-mediated signaling pathway
- intermediate filament cytoskeleton organization
- maintenance of cell polarity
- microtubule cytoskeleton organization
- response to wounding
- retrograde axonal transport
- wound healing
Molecular functions
- actin binding
- calcium ion binding
- integrin binding
- microtubule binding
- microtubule plus-end binding
- protein homodimerization activity
- structural molecule activity
Cellular components
- actin cytoskeleton
- axon
- axon cytoplasm
- basal plasma membrane
- basement membrane
- cell cortex
- cell leading edge
- cytoplasm
- cytoplasmic vesicle
- cytosol
- endoplasmic reticulum membrane
- focal adhesion
- H zone
- hemidesmosome
- intermediate filament
- intermediate filament cytoskeleton
- membrane
- microtubule cytoskeleton
- microtubule plus-end
- nuclear envelope
- nucleoplasm
- nucleus
- stress fiber
- Z disc
Protein domainsUniProt · Pfam · InterPro
- Plectin repeat
- SH3 domain
- Actinin-type actin-binding domain, conserved site
- Calponin homology domain
- Spectrin repeat
- EF-hand domain
- GAR domain
- EF-hand domain pair
- Spectrin/alpha-actinin
- EF-Hand 1, calcium-binding site
- Plakin repeat superfamily
- GAR domain superfamily
- CH domain superfamily
- Desmoplakin, spectrin-like domain
- Desmoplakin, SH3 domain
- Plakin
- Plectin-like, spectrin-like repeat
- Calponin homology (CH) domain
- Spectrin repeat
- Plectin repeat
- Growth-Arrest-Specific Protein 2 Domain
- EF-hand domain pair
- SH3 domain
- Spectrin like domain
- Spectrin-like repeat
- Spectrin-like repeat
- Spectrin repeat
KeywordsUniProt
- Actin-binding
- Alternative promoter usage
- Calcium
- Cell adhesion
- Cell junction
- Cell membrane
- Cell projection
- Coiled coil
- Cytoplasm
- Cytoskeleton
- Endoplasmic reticulum
- Epidermolysis bullosa
- Intermediate filament
- Isopeptide bond
- Lipoprotein
- Membrane
- Metal-binding
- Microtubule
- Muscle protein
- Neurodegeneration
- Neuropathy
- Nucleus
- Palmitate
- Phosphoprotein
- Repeat
- SH3 domain
- Transmembrane
- Ubl conjugation
InteractionsUniProt · HPA
Protein binding partners of DST in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DST as an antibody target. Whether an autoantibody or antibody against DST could matter depends on whether native DST is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DST is annotated at the cell surface, where native DST is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label DST as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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