Seroatlas · Human Serome Atlas

OBSCN

Obscurin

Also known as: ARHGEF30, KIAA1556, KIAA1639, OBSCN_HUMAN, UNC89

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q5VST9
Gene: OBSCN
Ensembl: ENSG00000154358
Chromosome: 1
Canonical length: 7968 aa
Protein class: Disease related genes, Enzymes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Plasma membrane,Cytosol

OverviewNCBI Gene

The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

7968 residues, UniProt reviewed canonical sequence.

>Q5VST9|OBSCN
     1  MDQPQFSGAP RFLTRPKAFV VSVGKDATLS CQIVGNPTPQ VSWEKDQQPV AAGARFRLAQ
    61  DGDLYRLTIL DLALGDSGQY VCRARNAIGE AFAAVGLQVD AEAACAEQAP HFLLRPTSIR
   121  VREGSEATFR CRVGGSPRPA VSWSKDGRRL GEPDGPRVRV EELGEASALR IRAARPRDGG
   181  TYEVRAENPL GAASAAAALV VDSDAADTAS RPGTSTAALL AHLQRRREAM RAEGAPASPP
   241  STGTRTCTVT EGKHARLSCY VTGEPKPETV WKKDGQLVTE GRRHVVYEDA QENFVLKILF
   301  CKQSDRGLYT CTASNLVGQT YSSVLVVVRE PAVPFKKRLQ DLEVREKESA TFLCEVPQPS
   361  TEAAWFKEET RLWASAKYGI EEEGTERRLT VRNVSADDDA VYICETPEGS RTVAELAVQG
   421  NLLRKLPRKT AVRVGDTAMF CVELAVPVGP VHWLRNQEEV VAGGRVAISA EGTRHTLTIS
   481  QCCLEDVGQV AFMAGDCQTS TQFCVSAPRK PPLQPPVDPV VKARMESSVI LSWSPPPHGE
   541  RPVTIDGYLV EKKKLGTYTW IRCHEAEWVA TPELTVADVA EEGNFQFRVS ALNSFGQSPY
   601  LEFPGTVHLA PKLAVRTPLK AVQAVEGGEV TFSVDLTVAS AGEWFLDGQA LKASSVYEIH
   661  CDRTRHTLTI REVPASLHGA QLKFVANGIE SSIRMEVRAA PGLTANKPPA AAAREVLARL
   721  HEEAQLLAEL SDQAAAVTWL KDGRTLSPGP KYEVQASAGR RVLLVRDVAR DDAGLYECVS
   781  RGGRIAYQLS VQGLARFLHK DMAGSCVDAV AGGPAQFECE TSEAHVHVHW YKDGMELGHS
   841  GERFLQEDVG TRHRLVAATV TRQDEGTYSC RVGEDSVDFR LRVSEPKVVF AKEQLARRKL
   901  QAEAGASATL SCEVAQAQTE VTWYKDGKKL SSSSKVCMEA TGCTRRLVVQ QAGQADAGEY
   961  SCEAGGQRLS FHLDVKEPKV VFAKDQVAHS EVQAEAGASA TLSCEVAQAQ TEVMWYKDGK
  1021  KLSSSLKVHV EAKGCRRRLV VQQAGKTDAG DYSCEARGQR VSFRLHITEP KMMFAKEQSV
  1081  HNEVQAEAGA SAMLSCEVAQ AQTEVTWYKD GKKLSSSSKV GMEVKGCTRR LVLPQAGKAD
  1141  AGEYSCEAGG QRVSFHLHIT EPKGVFAKEQ SVHNEVQAEA GTTAMLSCEV AQPQTEVTWY
  1201  KDGKKLSSSS KVRMEVKGCT RRLVVQQVGK ADAGEYSCEA GGQRVSFQLH ITEPKAVFAK
  1261  EQLVHNEVRT EAGASATLSC EVAQAQTEVT WYKDGKKLSS SSKVRIEAAG CMRQLVVQQA
  1321  GQADAGEYTC EAGGQRLSFH LDVSEPKAVF AKEQLAHRKV QAEAGAIATL SCEVAQAQTE
  1381  VTWYKDGKKL SSSSKVRMEA VGCTRRLVVQ QACQADTGEY SCEAGGQRLS FSLDVAEPKV
  1441  VFAKEQPVHR EVQAQAGAST TLSCEVAQAQ TEVMWYKDGK KLSFSSKVRM EAVGCTRRLV
  1501  VQQAGQAVAG EYSCEAGSQR LSFHLHVAEP KAVFAKEQPA SREVQAEAGT SATLSCEVAQ
  1561  AQTEVTWYKD GKKLSSSSKV RMEAVGCTRR LVVQEAGQAD AGEYSCKAGD QRLSFHLHVA
  1621  EPKVVFAKEQ PAHREVQAEA GASATLSCEV AQAQTEVTWY KDGKKLSSSS KVRVEAVGCT
  1681  RRLVVQQAGQ AEAGEYSCEA GGQQLSFRLH VAELEPQISE RPCRREPLVV KEHEDIILTA
  1741  TLATPSAATV TWLKDGVEIR RSKRHETASQ GDTHTLTVHG AQVLDSAIYS CRVGAEGQDF
  1801  PVQVEEVAAK FCRLLEPVCG ELGGTVTLAC ELSPACAEVV WRCGNTQLRV GKRFQMVAEG
  1861  PVRSLTVLGL RAEDAGEYVC ESRDDHTSAQ LTVSVPRVVK FMSGLSTVVA EEGGEATFQC
  1921  VVSPSDVAVV WFRDGALLQP SEKFAISQSG ASHSLTISDL VLEDAGQITV EAEGASSSAA
  1981  LRVREAPVLF KKKLEPQTVE ERSSVTLEVE LTRPWPELRW TRNATALAPG KNVEIHAEGA
  2041  RHRLVLHNVG FADRGFFGCE TPDDKTQAKL TVEMRQVRLV RGLQAVEARE QGTATMEVQL
  2101  SHADVDGSWT RDGLRFQQGP TCHLAVRGPM HTLTLSGLRP EDSGLMVFKA EGVHTSARLV
  2161  VTELPVSFSR PLQDVVTTEK EKVTLECELS RPNVDVRWLK DGVELRAGKT MAIAAQGACR
  2221  SLTIYRCEFA DQGVYVCDAH DAQSSASVKV QGRTYTLIYR RVLAEDAGEI QFVAENAESR
  2281  AQLRVKELPV TLVRPLRDKI AMEKHRGVLE CQVSRASAQV RWFKGSQELQ PGPKYELVSD
  2341  GLYRKLIISD VHAEDEDTYT CDAGDVKTSA QFFVEEQSIT IVRGLQDVTV MEPAPAWFEC
  2401  ETSIPSVRPP KWLLGKTVLQ AGGNVGLEQE GTVHRLMLRR TCSTMTGPVH FTVGKSRSSA
  2461  RLVVSDIPVV LTRPLEPKTG RELQSVVLSC DFRPAPKAVQ WYKDDTPLSP SEKFKMSLEG
  2521  QMAELRILRL MPADAGVYRC QAGSAHSSTE VTVEAREVTV TGPLQDAEAT EEGWASFSCE
  2581  LSHEDEEVEW SLNGMPLYND SFHEISHKGR RHTLVLKSIQ RADAGIVRAS SLKVSTSARL
  2641  EVRVKPVVFL KALDDLSAEE RGTLALQCEV SDPEAHVVWR KDGVQLGPSD KYDFLHTAGT
  2701  RGLVVHDVSP EDAGLYTCHV GSEETRARVR VHDLHVGITK RLKTMEVLEG ESCSFECVLS
  2761  HESASDPAMW TVGGKTVGSS SRFQATRQGR KYILVVREAA PSDAGEVVFS VRGLTSKASL
  2821  IVRERPAAII KPLEDQWVAP GEDVELRCEL SRAGTPVHWL KDRKAIRKSQ KYDVVCEGTM
  2881  AMLVIRGASL KDAGEYTCEV EASKSTASLH VEEKANCFTE ELTNLQVEEK GTAVFTCKTE
  2941  HPAATVTWRK GLLELRASGK HQPSQEGLTL RLTISALEKA DSDTYTCDIG QAQSRAQLLV
  3001  QGRRVHIIED LEDVDVQEGS SATFRCRISP ANYEPVHWFL DKTPLHANEL NEIDAQPGGY
  3061  HVLTLRQLAL KDSGTIYFEA GDQRASAALR VTEKPSVFSR ELTDATITEG EDLTLVCETS
  3121  TCDIPVCWTK DGKTLRGSAR CQLSHEGHRA QLLITGATLQ DSGRYKCEAG GACSSSIVRV
  3181  HARPVRFQEA LKDLEVLEGG AATLRCVLSS VAAPVKWCYG NNVLRPGDKY SLRQEGAMLE
  3241  LVVRNLRPQD SGRYSCSFGD QTTSATLTVT ALPAQFIGKL RNKEATEGAT ATLRCELSKA
  3301  APVEWRKGSE TLRDGDRYCL RQDGAMCELQ IRGLAMVDAA EYSCVCGEER TSASLTIRPM
  3361  PAHFIGRLRH QESIEGATAT LRCELSKAAP VEWRKGRESL RDGDRHSLRQ DGAVCELQIC
  3421  GLAVADAGEY SCVCGEERTS ATLTVKALPA KFTEGLRNEE AVEGATAMLW CELSKVAPVE
  3481  WRKGPENLRD GDRYILRQEG TRCELQICGL AMADAGEYLC VCGQERTSAT LTIRALPARF
  3541  IEDVKNQEAR EGATAVLQCE LNSAAPVEWR KGSETLRDGD RYSLRQDGTK CELQIRGLAM
  3601  ADTGEYSCVC GQERTSAMLT VRALPIKFTE GLRNEEATEG ATAVLRCELS KMAPVEWWKG
  3661  HETLRDGDRH SLRQDGARCE LQIRGLVAED AGEYLCMCGK ERTSAMLTVR AMPSKFIEGL
  3721  RNEEATEGDT ATLWCELSKA APVEWRKGHE TLRDGDRHSL RQDGSRCELQ IRGLAVVDAG
  3781  EYSCVCGQER TSATLTVRAL PARFIEDVKN QEAREGATAV LQCELSKAAP VEWRKGSETL
  3841  RGGDRYSLRQ DGTRCELQIH GLSVADTGEY SCVCGQERTS ATLTVKAPQP VFREPLQSLQ
  3901  AEEGSTATLQ CELSEPTATV VWSKGGLQLQ ANGRREPRLQ GCTAELVLQD LQREDTGEYT
  3961  CTCGSQATSA TLTVTAAPVR FLRELQHQEV DEGGTAHLCC ELSRAGASVE WRKGSLQLFP
  4021  CAKYQMVQDG AAAELLVRGV EQEDAGDYTC DTGHTQSMAS LSVRVPRPKF KTRLQSLEQE
  4081  TGDIARLCCQ LSDAESGAVV QWLKEGVELH AGPKYEMRSQ GATRELLIHQ LEAKDTGEYA
  4141  CVTGGQKTAA SLRVTEPEVT IVRGLVDAEV TADEDVEFSC EVSRAGATGV QWCLQGLPLQ
  4201  SNEVTEVAVR DGRIHTLRLK GVTPEDAGTV SFHLGNHASS AQLTVRAPEV TILEPLQDVQ
  4261  LSEGQDASFQ CRLSRASGQE ARWALGGVPL QANEMNDITV EQGTLHLLTL HKVTLEDAGT
  4321  VSFHVGTCSS EAQLKVTAKN TVVRGLENVE ALEGGEALFE CQLSQPEVAA HTWLLDDEPV
  4381  HTSENAEVVF FENGLRHLLL LKNLRPQDSC RVTFLAGDMV TSAFLTVRGW RLEILEPLKN
  4441  AAVRAGAQAC FTCTLSEAVP VGEASWYING AAVQPDDSDW TVTADGSHHA LLLRSAQPHH
  4501  AGEVTFACRD AVASARLTVL GLPDPPEDAE VVARSSHTVT LSWAAPMSDG GGGLCGYRVE
  4561  VKEGATGQWR LCHELVPGPE CVVDGLAPGE TYRFRVAAVG PVGAGEPVHL PQTVRLAEPP
  4621  KPVPPQPSAP ESRQVAAGED VSLELEVVAE AGEVIWHKGM ERIQPGGRFE VVSQGRQQML
  4681  VIKGFTAEDQ GEYHCGLAQG SICPAAATFQ VALSPASVDE APQPSLPPEA AQEGDLHLLW
  4741  EALARKRRMS REPTLDSISE LPEEDGRSQR LPQEAEEVAP DLSEGYSTAD ELARTGDADL
  4801  SHTSSDDESR AGTPSLVTYL KKAGRPGTSP LASKVGAPAA PSVKPQQQQE PLAAVRPPLG
  4861  DLSTKDLGDP SMDKAAVKIQ AAFKGYKVRK EMKQQEGPMF SHTFGDTEAQ VGDALRLECV
  4921  VASKADVRAR WLKDGVELTD GRHHHIDQLG DGTCSLLITG LDRADAGCYT CQVSNKFGQV
  4981  THSACVVVSG SESEAESSSG GELDDAFRRA ARRLHRLFRT KSPAEVSDEE LFLSADEGPA
  5041  EPEEPADWQT YREDEHFICI RFEALTEARQ AVTRFQEMFA TLGIGVEIKL VEQGPRRVEM
  5101  CISKETPAPV VPPEPLPSLL TSDAAPVFLT ELQNQEVQDG YPVSFDCVVT GQPMPSVRWF
  5161  KDGKLLEEDD HYMINEDQQG GHQLIITAVV PADMGVYRCL AENSMGVSST KAELRVDLTS
  5221  TDYDTAADAT ESSSYFSAQG YLSSREQEGT ESTTDEGQLP QVVEELRDLQ VAPGTRLAKF
  5281  QLKVKGYPAP RLYWFKDGQP LTASAHIRMT DKKILHTLEI ISVTREDSGQ YAAYISNAMG
  5341  AAYSSARLLV RGPDEPEEKP ASDVHEQLVP PRMLERFTPK KVKKGSSITF SVKVEGRPVP
  5401  TVHWLREEAE RGVLWIGPDT PGYTVASSAQ QHSLVLLDVG RQHQGTYTCI ASNAAGQALC
  5461  SASLHVSGLP KVEEQEKVKE ALISTFLQGT TQAISAQGLE TASFADLGGQ RKEEPLAAKE
  5521  ALGHLSLAEV GTEEFLQKLT SQITEMVSAK ITQAKLQVPG GDSDEDSKTP SASPRHGRSR
  5581  PSSSIQESSS ESEDGDARGE IFDIYVVTAD YLPLGAEQDA ITLREGQYVE VLDAAHPLRW
  5641  LVRTKPTKSS PSRQGWVSPA YLDRRLKLSP EWGAAEAPEF PGEAVSEDEY KARLSSVIQE
  5701  LLSSEQAFVE ELQFLQSHHL QHLERCPHVP IAVAGQKAVI FRNVRDIGRF HSSFLQELQQ
  5761  CDTDDDVAMC FIKNQAAFEQ YLEFLVGRVQ AESVVVSTAI QEFYKKYAEE ALLAGDPSQP
  5821  PPPPLQHYLE QPVERVQRYQ ALLKELIRNK ARNRQNCALL EQAYAVVSAL PQRAENKLHV
  5881  SLMENYPGTL QALGEPIRQG HFIVWEGAPG ARMPWKGHNR HVFLFRNHLV ICKPRRDSRT
  5941  DTVSYVFRNM MKLSSIDLND QVEGDDRAFE VWQEREDSVR KYLLQARTAI IKSSWVKEIC
  6001  GIQQRLALPV WRPPDFEEEL ADCTAELGET VKLACRVTGT PKPVISWYKD GKAVQVDPHH
  6061  ILIEDPDGSC ALILDSLTGV DSGQYMCFAA SAAGNCSTLG KILVQVPPRF VNKVRASPFV
  6121  EGEDAQFTCT IEGAPYPQIR WYKDGALLTT GNKFQTLSEP RSGLLVLVIR AASKEDLGLY
  6181  ECELVNRLGS ARASAELRIQ SPMLQAQEQC HREQLVAAVE DTTLERADQE VTSVLKRLLG
  6241  PKAPGPSTGD LTGPGPCPRG APALQETGSQ PPVTGTSEAP AVPPRVPQPL LHEGPEQEPE
  6301  AIARAQEWTV PIRMEGAAWP GAGTGELLWD VHSHVVRETT QRTYTYQAID THTARPPSMQ
  6361  VTIEDVQAQT GGTAQFEAII EGDPQPSVTW YKDSVQLVDS TRLSQQQEGT TYSLVLRHVA
  6421  SKDAGVYTCL AQNTGGQVLC KAELLVLGGD NEPDSEKQSH RRKLHSFYEV KEEIGRGVFG
  6481  FVKRVQHKGN KILCAAKFIP LRSRTRAQAY RERDILAALS HPLVTGLLDQ FETRKTLILI
  6541  LELCSSEELL DRLYRKGVVT EAEVKVYIQQ LVEGLHYLHS HGVLHLDIKP SNILMVHPAR
  6601  EDIKICDFGF AQNITPAELQ FSQYGSPEFV SPEIIQQNPV SEASDIWAMG VISYLSLTCS
  6661  SPFAGESDRA TLLNVLEGRV SWSSPMAAHL SEDAKDFIKA TLQRAPQARP SAAQCLSHPW
  6721  FLKSMPAEEA HFINTKQLKF LLARSRWQRS LMSYKSILVM RSIPELLRGP PDSPSLGVAR
  6781  HLCRDTGGSS SSSSSSDNEL APFARAKSLP PSPVTHSPLL HPRGFLRPSA SLPEEAEASE
  6841  RSTEAPAPPA SPEGAGPPAA QGCVPRHSVI RSLFYHQAGE SPEHGALAPG SRRHPARRRH
  6901  LLKGGYIAGA LPGLREPLME HRVLEEEAAR EEQATLLAKA PSFETALRLP ASGTHLAPGH
  6961  SHSLEHDSPS TPRPSSEACG EAQRLPSAPS GGAPIRDMGH PQGSKQLPST GGHPGTAQPE
  7021  RPSPDSPWGQ PAPFCHPKQG SAPQEGCSPH PAVAPCPPGS FPPGSCKEAP LVPSSPFLGQ
  7081  PQAPPAPAKA SPPLDSKMGP GDISLPGRPK PGPCSSPGSA SQASSSQVSS LRVGSSQVGT
  7141  EPGPSLDAEG WTQEAEDLSD STPTLQRPQE QATMRKFSLG GRGGYAGVAG YGTFAFGGDA
  7201  GGMLGQGPMW ARIAWAVSQS EEEEQEEARA ESQSEEQQEA RAESPLPQVS ARPVPEVGRA
  7261  PTRSSPEPTP WEDIGQVSLV QIRDLSGDAE AADTISLDIS EVDPAYLNLS DLYDIKYLPF
  7321  EFMIFRKVPK SAQPEPPSPM AEEELAEFPE PTWPWPGELG PHAGLEITEE SEDVDALLAE
  7381  AAVGRKRKWS SPSRSLFHFP GRHLPLDEPA ELGLRERVKA SVEHISRILK GRPEGLEKEG
  7441  PPRKKPGLAS FRLSGLKSWD RAPTFLRELS DETVVLGQSV TLACQVSAQP AAQATWSKDG
  7501  APLESSSRVL ISATLKNFQL LTILVVVAED LGVYTCSVSN ALGTVTTTGV LRKAERPSSS
  7561  PCPDIGEVYA DGVLLVWKPV ESYGPVTYIV QCSLEGGSWT TLASDIFDCC YLTSKLSRGG
  7621  TYTFRTACVS KAGMGPYSSP SEQVLLGGPS HLASEEESQG RSAQPLPSTK TFAFQTQIQR
  7681  GRFSVVRQCW EKASGRALAA KIIPYHPKDK TAVLREYEAL KGLRHPHLAQ LHAAYLSPRH
  7741  LVLILELCSG PELLPCLAER ASYSESEVKD YLWQMLSATQ YLHNQHILHL DLRSENMIIT
  7801  EYNLLKVVDL GNAQSLSQEK VLPSDKFKDY LETMAPELLE GQGAVPQTDI WAIGVTAFIM
  7861  LSAEYPVSSE GARDLQRGLR KGLVRLSRCY AGLSGGAVAF LRSTLCAQPW GRPCASSCLQ
  7921  CPWLTEEGPA CSRPAPVTFP TARLRVFVRN REKRRALLYK RHNLAQVR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OBSCN 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: 320 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 320 nTPM
tongue: 105 nTPM
heart muscle: 22 nTPM
cerebellum: 5.9 nTPM
salivary gland: 4.8 nTPM
thymus: 4.6 nTPM

Single-cell type

myonuclei: 2,490 nCPM
cardiomyocytes: 1,085 nCPM
thymic myoid cells: 484 nCPM
pituitary stem cells: 185 nCPM
choroid plexus epithelial cells: 174 nCPM
epicardial cells: 109 nCPM

Immune cell

naive CD4 T-cell: 0.3 nTPM
intermediate monocyte: 0.2 nTPM
myeloid DC: 0.2 nTPM
classical monocyte: 0.1 nTPM
gdT-cell: 0.1 nTPM
naive B-cell: 0.1 nTPM

Brain region

choroid plexus: 45 nTPM
basal ganglia: 45 nTPM
cerebellum: 28 nTPM
hypothalamus: 20 nTPM
medulla oblongata: 14 nTPM
thalamus: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OBSCN.

Disease | AllUniProt

Conditions OBSCN is implicated in, by any mechanism.

Rhabdomyolysis 1 (RHABDO1) MIM:620235

Disease | GeneticClinVar

62 pathogenic / likely-pathogenic of 5,955 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Rhabdomyolysis, susceptibility to, 1
OBSCN-related disorder
Hypertrophic cardiomyopathy 1
Short stature
Inborn genetic diseases

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): 0.87
gnomAD pLI: 0
gnomAD missense Z: -1.14
DepMap mean gene effect: 0.23
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of OBSCN 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 OBSCN as an antibody target. Whether an autoantibody or antibody against OBSCN could matter depends on whether native OBSCN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

OBSCN is annotated at the cell surface, where native OBSCN 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 OBSCN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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