OPALI_HUMAN
ID OPALI_HUMAN Reviewed; 141 AA.
AC Q96PE5; A8MX69; A8MYG4; B4DK96; B4DKH0; Q5W102;
DT 10-MAY-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 146.
DE RecName: Full=Opalin;
DE AltName: Full=Oligodendrocytic myelin paranodal and inner loop protein;
DE AltName: Full=Transmembrane protein 10;
GN Name=OPALIN;
GN Synonyms=HTMP10 {ECO:0000303|PubMed:14702039},
GN TMEM10 {ECO:0000303|PubMed:30837646};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RX PubMed=11814680; DOI=10.1016/s0378-1119(01)00846-0;
RA Nobile C., Hinzmann B., Scannapieco P., Siebert R., Zimbello R.,
RA Perez-Tur J., Sarafidou T., Moschonas N.K., French L., Deloukas P.,
RA Ciccodicola A., Gesk S., Poza J.J., Lo Nigro C., Seri M.,
RA Schlegelberger B., Rosenthal A., Valle G., Lopez de Munain A.,
RA Tassinari C.A., Michelucci R.;
RT "Identification and characterization of a novel human brain-specific gene,
RT homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region
RT for temporal lobe epilepsy and spastic paraplegia.";
RL Gene 282:87-94(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 4).
RC TISSUE=Brain, and Thalamus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Amygdala;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain, Lung, and Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP TISSUE SPECIFICITY.
RX PubMed=30837646; DOI=10.1038/s41598-019-40342-x;
RA de Faria O. Jr., Dhaunchak A.S., Kamen Y., Roth A.D., Kuhlmann T.,
RA Colman D.R., Kennedy T.E.;
RT "TMEM10 Promotes Oligodendrocyte Differentiation and is Expressed by
RT Oligodendrocytes in Human Remyelinating Multiple Sclerosis Plaques.";
RL Sci. Rep. 9:3606-3606(2019).
CC -!- FUNCTION: Central nervous system-specific myelin protein that increase
CC myelin genes expression during oligodendrocyte differentiation.
CC Promotes oligodendrocyte terminal differentiation.
CC {ECO:0000250|UniProtKB:Q7M750}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q7M750};
CC Single-pass type I membrane protein {ECO:0000255}. Note=In the CNS,
CC enriched in the myelin paranodal and inner loop membranes, but not that
CC of the PNS. Enriched in the leading edge of extending processes.
CC {ECO:0000250|UniProtKB:Q7M750}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q96PE5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96PE5-2; Sequence=VSP_042943;
CC Name=3;
CC IsoId=Q96PE5-3; Sequence=VSP_046290;
CC Name=4;
CC IsoId=Q96PE5-4; Sequence=VSP_054892;
CC -!- TISSUE SPECIFICITY: Brain specific; expressed in oligodendrocytes
CC (PubMed:11814680, PubMed:30837646). Expressed in oligodendrocytes in
CC remyelinating multiple sclerosis plaques (PubMed:30837646).
CC {ECO:0000269|PubMed:11814680, ECO:0000269|PubMed:30837646}.
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DR EMBL; AF367761; AAK62349.1; -; mRNA.
DR EMBL; AK296462; BAG59108.1; -; mRNA.
DR EMBL; AK289835; BAF82524.1; -; mRNA.
DR EMBL; AK296562; BAG59182.1; -; mRNA.
DR EMBL; AK316090; BAH14461.1; -; mRNA.
DR EMBL; AL834229; CAD38907.1; -; mRNA.
DR EMBL; AL136181; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471066; EAW49978.1; -; Genomic_DNA.
DR EMBL; BC033737; AAH33737.1; -; mRNA.
DR CCDS; CCDS41556.1; -. [Q96PE5-3]
DR CCDS; CCDS44466.1; -. [Q96PE5-2]
DR CCDS; CCDS60602.1; -. [Q96PE5-4]
DR CCDS; CCDS7448.1; -. [Q96PE5-1]
DR RefSeq; NP_001035191.1; NM_001040102.2. [Q96PE5-3]
DR RefSeq; NP_001035192.1; NM_001040103.2. [Q96PE5-2]
DR RefSeq; NP_001271249.1; NM_001284320.1. [Q96PE5-4]
DR RefSeq; NP_001271250.1; NM_001284321.1.
DR RefSeq; NP_001271251.1; NM_001284322.1. [Q96PE5-2]
DR RefSeq; NP_001271252.1; NM_001284323.1. [Q96PE5-2]
DR RefSeq; NP_001271253.1; NM_001284324.1. [Q96PE5-2]
DR RefSeq; NP_001271255.1; NM_001284326.1.
DR RefSeq; NP_001271256.1; NM_001284327.1.
DR RefSeq; NP_149984.1; NM_033207.4. [Q96PE5-1]
DR AlphaFoldDB; Q96PE5; -.
DR BioGRID; 125020; 240.
DR IntAct; Q96PE5; 2.
DR MINT; Q96PE5; -.
DR STRING; 9606.ENSP00000360214; -.
DR GlyGen; Q96PE5; 3 sites.
DR iPTMnet; Q96PE5; -.
DR PhosphoSitePlus; Q96PE5; -.
DR BioMuta; OPALIN; -.
DR DMDM; 20532275; -.
DR MassIVE; Q96PE5; -.
DR MaxQB; Q96PE5; -.
DR PaxDb; Q96PE5; -.
DR PeptideAtlas; Q96PE5; -.
DR PRIDE; Q96PE5; -.
DR ProteomicsDB; 2298; -.
DR ProteomicsDB; 2399; -.
DR ProteomicsDB; 77682; -. [Q96PE5-1]
DR ProteomicsDB; 77683; -. [Q96PE5-2]
DR Antibodypedia; 2734; 41 antibodies from 11 providers.
DR DNASU; 93377; -.
DR Ensembl; ENST00000371172.8; ENSP00000360214.3; ENSG00000197430.11. [Q96PE5-1]
DR Ensembl; ENST00000393871.5; ENSP00000377449.1; ENSG00000197430.11. [Q96PE5-3]
DR Ensembl; ENST00000419479.5; ENSP00000398025.2; ENSG00000197430.11. [Q96PE5-4]
DR Ensembl; ENST00000611913.4; ENSP00000484599.1; ENSG00000197430.11. [Q96PE5-2]
DR GeneID; 93377; -.
DR KEGG; hsa:93377; -.
DR MANE-Select; ENST00000371172.8; ENSP00000360214.3; NM_033207.5; NP_149984.1.
DR UCSC; uc001kmj.5; human. [Q96PE5-1]
DR CTD; 93377; -.
DR DisGeNET; 93377; -.
DR GeneCards; OPALIN; -.
DR HGNC; HGNC:20707; OPALIN.
DR HPA; ENSG00000197430; Group enriched (brain, choroid plexus).
DR MIM; 617200; gene.
DR neXtProt; NX_Q96PE5; -.
DR OpenTargets; ENSG00000197430; -.
DR PharmGKB; PA162398424; -.
DR VEuPathDB; HostDB:ENSG00000197430; -.
DR eggNOG; ENOG502RWAT; Eukaryota.
DR GeneTree; ENSGT00390000009395; -.
DR HOGENOM; CLU_1824653_0_0_1; -.
DR InParanoid; Q96PE5; -.
DR OMA; DCGPSVG; -.
DR OrthoDB; 1457772at2759; -.
DR PhylomeDB; Q96PE5; -.
DR TreeFam; TF337818; -.
DR PathwayCommons; Q96PE5; -.
DR SignaLink; Q96PE5; -.
DR BioGRID-ORCS; 93377; 12 hits in 1059 CRISPR screens.
DR GeneWiki; TMEM10; -.
DR GenomeRNAi; 93377; -.
DR Pharos; Q96PE5; Tdark.
DR PRO; PR:Q96PE5; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q96PE5; protein.
DR Bgee; ENSG00000197430; Expressed in lateral globus pallidus and 67 other tissues.
DR ExpressionAtlas; Q96PE5; baseline and differential.
DR Genevisible; Q96PE5; HS.
DR GO; GO:0044291; C:cell-cell contact zone; IBA:GO_Central.
DR GO; GO:0005794; C:Golgi apparatus; IDA:LIFEdb.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; ISS:UniProtKB.
DR GO; GO:0048713; P:regulation of oligodendrocyte differentiation; ISS:UniProtKB.
DR InterPro; IPR026609; Opalin.
DR PANTHER; PTHR21102; PTHR21102; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell membrane; Glycoprotein; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..141
FT /note="Opalin"
FT /id="PRO_0000072591"
FT TOPO_DOM 1..29
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 30..50
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 51..141
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 61..99
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 77..93
FT /note="Required for plasma membrane localization"
FT /evidence="ECO:0000250|UniProtKB:Q7M750"
FT COMPBIAS 61..90
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 6
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 12
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 14
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000250"
FT VAR_SEQ 1..24
FT /note="MSFSLNFTLPANTTSSPVTGGKET -> M (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_046290"
FT VAR_SEQ 1..13
FT /note="MSFSLNFTLPANT -> MRM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042943"
FT VAR_SEQ 13..23
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054892"
SQ SEQUENCE 141 AA; 15683 MW; 86DE9B7AF4C89B85 CRC64;
MSFSLNFTLP ANTTSSPVTG GKETDCGPSL GLAAGIPLLV ATALLVALLF TLIHRRRSSI
EAMEESDRPC EISEIDDNPK ISENPRRSPT HEKNTMGAQE AHIYVKTVAG SEEPVHDRYR
PTIEMERRRG LWWLVPRLSL E
