LOCUS       NM_001008212            3479 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens optineurin (OPTN), transcript variant 3, mRNA.
ACCESSION   NM_001008212
VERSION     NM_001008212.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3479)
  AUTHORS   Nan,H., Kim,Y.J., Chu,M., Li,D., Li,J., Jiang,D., Wu,Y., Ohtsuka,T.
            and Wu,L.
  TITLE     Genetic and clinical landscape of Chinese frontotemporal dementia:
            dominance of TBK1 and OPTN mutations
  JOURNAL   Alzheimers Res Ther 16 (1), 127 (2024)
   PUBMED   38872230
  REMARK    GeneRIF: Genetic and clinical landscape of Chinese frontotemporal
            dementia: dominance of TBK1 and OPTN mutations.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3479)
  AUTHORS   Jin,J., Huang,R., Chang,Y. and Yi,X.
  TITLE     Roles and mechanisms of optineurin in bone metabolism
  JOURNAL   Biomed Pharmacother 172, 116258 (2024)
   PUBMED   38350370
  REMARK    GeneRIF: Roles and mechanisms of optineurin in bone metabolism.
            Review article
REFERENCE   3  (bases 1 to 3479)
  AUTHORS   Yamano,K., Sawada,M., Kikuchi,R., Nagataki,K., Kojima,W., Endo,R.,
            Kinefuchi,H., Sugihara,A., Fujino,T., Watanabe,A., Tanaka,K.,
            Hayashi,G., Murakami,H. and Matsuda,N.
  TITLE     Optineurin provides a mitophagy contact site for TBK1 activation
  JOURNAL   EMBO J 43 (5), 754-779 (2024)
   PUBMED   38287189
  REMARK    GeneRIF: Optineurin provides a mitophagy contact site for TBK1
            activation.
REFERENCE   4  (bases 1 to 3479)
  AUTHORS   D'Urso,B., Weil,R. and Genin,P.
  TITLE     [Optineurin and mitochondrial dysfunction in neurodegeneration]
  JOURNAL   Med Sci (Paris) 40 (2), 167-175 (2024)
   PUBMED   38411425
  REMARK    GeneRIF: [Optineurin and mitochondrial dysfunction in
            neurodegeneration].
            Review article
REFERENCE   5  (bases 1 to 3479)
  AUTHORS   Mishra,D., Narain,P., Dave,U. and Gomes,J.
  TITLE     Role of ALS-associated OPTN-K489E mutation in neuronal cell-death
            regulation
  JOURNAL   Mol Cell Neurosci 127, 103904 (2023)
   PUBMED   37918554
  REMARK    GeneRIF: Role of ALS-associated OPTN-K489E mutation in neuronal
            cell-death regulation.
REFERENCE   6  (bases 1 to 3479)
  AUTHORS   Fong,K.S. and de Couet,H.G.
  TITLE     Novel proteins interacting with the leucine-rich repeat domain of
            human flightless-I identified by the yeast two-hybrid system
  JOURNAL   Genomics 58 (2), 146-157 (1999)
   PUBMED   10366446
REFERENCE   7  (bases 1 to 3479)
  AUTHORS   Faber,P.W., Barnes,G.T., Srinidhi,J., Chen,J., Gusella,J.F. and
            MacDonald,M.E.
  TITLE     Huntingtin interacts with a family of WW domain proteins
  JOURNAL   Hum Mol Genet 7 (9), 1463-1474 (1998)
   PUBMED   9700202
REFERENCE   8  (bases 1 to 3479)
  AUTHORS   Sarfarazi,M., Child,A., Stoilova,D., Brice,G., Desai,T.,
            Trifan,O.C., Poinoosawmy,D. and Crick,R.P.
  TITLE     Localization of the fourth locus (GLC1E) for adult-onset primary
            open-angle glaucoma to the 10p15-p14 region
  JOURNAL   Am J Hum Genet 62 (3), 641-652 (1998)
   PUBMED   9497264
REFERENCE   9  (bases 1 to 3479)
  AUTHORS   Li,Y., Kang,J. and Horwitz,M.S.
  TITLE     Interaction of an adenovirus E3 14.7-kilodalton protein with a
            novel tumor necrosis factor alpha-inducible cellular protein
            containing leucine zipper domains
  JOURNAL   Mol Cell Biol 18 (3), 1601-1610 (1998)
   PUBMED   9488477
REFERENCE   10 (bases 1 to 3479)
  AUTHORS   Siddique,N. and Siddique,T.
  TITLE     Amyotrophic Lateral Sclerosis Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301623
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI552635.1, AF420373.1,
            BC032762.1, AF420371.1, AF070533.1 and AL355355.25.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001008212.1.
            
            Summary: This gene encodes the coiled-coil containing protein
            optineurin. Optineurin may play a role in normal-tension glaucoma
            and adult-onset primary open angle glaucoma. Optineurin interacts
            with adenovirus E3-14.7K protein and may utilize tumor necrosis
            factor-alpha or Fas-ligand pathways to mediate apoptosis,
            inflammation or vasoconstriction. Optineurin may also function in
            cellular morphogenesis and membrane trafficking, vesicle
            trafficking, and transcription activation through its interactions
            with the RAB8, huntingtin, and transcription factor IIIA proteins.
            Alternative splicing results in multiple transcript variants
            encoding the same protein. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.228417.1,
                                           SRR1660809.111304.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378747.8/ ENSP00000368021.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-62                BI552635.1         109-170
            63-292              AF420373.1         1-230
            293-929             BC032762.1         348-984
            930-2070            AF420371.1         937-2077
            2071-3447           AF070533.1         85-1461
            3448-3479           AL355355.25        161805-161836
FEATURES             Location/Qualifiers
     source          1..3479
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p13"
     gene            1..3479
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="optineurin"
                     /db_xref="GeneID:10133"
                     /db_xref="HGNC:HGNC:17142"
                     /db_xref="MIM:602432"
     exon            1..140
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /inference="alignment:Splign:2.1.0"
     exon            141..292
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /inference="alignment:Splign:2.1.0"
     exon            293..469
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /inference="alignment:Splign:2.1.0"
     CDS             304..2037
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="nemo-related protein; tumor necrosis factor
                     alpha-inducible cellular protein containing leucine zipper
                     domains; transcrption factor IIIA-interacting protein;
                     Huntingtin interacting protein L; FIP-2; HIP-7; huntingtin
                     yeast partner L; E3-14.7K-interacting protein;
                     huntingtin-interacting protein 7; huntingtin-interacting
                     protein L; optic neuropathy-inducing protein;
                     transcription factor IIIA-interacting protein"
                     /codon_start=1
                     /product="optineurin"
                     /protein_id="NP_001008213.1"
                     /db_xref="CCDS:CCDS7094.1"
                     /db_xref="GeneID:10133"
                     /db_xref="HGNC:HGNC:17142"
                     /db_xref="MIM:602432"
                     /translation="MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQM
                     KELLTENHQLKEAMKLNNQAMKGRFEELSAWTEKQKEERQFFEIQSKEAKERLMALSH
                     ENEKLKEELGKLKGKSERSSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGI
                     VSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRS
                     ADGAKNYFEHEELTVSQLLLCLREGNQKVERLEVALKEAKERVSDFEKKTSNRSEIET
                     QTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKLSEAELMKKRLQEKC
                     QALERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMT
                     HNKLLQEHNNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQT
                     IAKQEEDLETMTILRAQMEVYCSDFHAERAAREKIHEEKEQLALQLAVLLKENDAFED
                     GGRQSLMEMQSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGEVLPDID
                     TLQIHVMDCII"
     exon            470..672
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /inference="alignment:Splign:2.1.0"
     exon            673..855
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /inference="alignment:Splign:2.1.0"
     exon            856..929
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /inference="alignment:Splign:2.1.0"
     exon            930..1082
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /inference="alignment:Splign:2.1.0"
     exon            1083..1185
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /inference="alignment:Splign:2.1.0"
     exon            1186..1301
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /inference="alignment:Splign:2.1.0"
     exon            1302..1451
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /inference="alignment:Splign:2.1.0"
     exon            1452..1545
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /inference="alignment:Splign:2.1.0"
     exon            1546..1704
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /inference="alignment:Splign:2.1.0"
     exon            1705..1835
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /inference="alignment:Splign:2.1.0"
     exon            1836..1915
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /inference="alignment:Splign:2.1.0"
     exon            1916..3479
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2093
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="major polyA site"
     regulatory      3448..3453
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="hexamer: AAGAAA"
     regulatory      3456..3461
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
                     /note="hexamer: ATTAAA"
     polyA_site      3456
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
     polyA_site      3479
                     /gene="OPTN"
                     /gene_synonym="ALS12; FIP2; GLC1E; HIP7; HYPL; NRP;
                     TFIIIA-INTP"
ORIGIN      
        1 agtcccggct gccccctccg ccaccgccgc cgcccgccgg caggttccct ggtcagcgtc
       61 ccatcccggt cgggagttct ctccaggcgg cacgatgccg aggaaacagt gaccctgagc
      121 gaagccaagc cgggcggcag gtgtggcttt gatagctggt ggtgccactt cctggccttg
      181 gatgagccgt acgcctctgt aaacccaact tcctcacctt tgaaacagct gcctggttca
      241 gcattaatga agattagtca gtgacaggcc tggtgtgctg agtccgcaca tagaacttct
      301 gcaatgtccc atcaacctct cagctgcctc actgaaaagg aggacagccc cagtgaaagc
      361 acaggaaatg gaccccccca cctggcccac ccaaacctgg acacgtttac cccggaggag
      421 ctgctgcagc agatgaaaga gctcctgacc gagaaccacc agctgaaaga agccatgaag
      481 ctaaataatc aagccatgaa agggagattt gaggagcttt cggcctggac agagaaacag
      541 aaggaagaac gccagttttt tgagatacag agcaaagaag caaaagagcg tctaatggcc
      601 ttgagtcatg agaatgagaa attgaaggaa gagcttggaa aactaaaagg gaaatcagaa
      661 aggtcatctg aggaccccac tgatgactcc aggcttccca gggccgaagc ggagcaggaa
      721 aaggaccagc tcaggaccca ggtggtgagg ctacaagcag agaaggcaga cctgttgggc
      781 atcgtgtctg aactgcagct caagctgaac tccagcggct cctcagaaga ttcctttgtt
      841 gaaattagga tggctgaagg agaagcagaa gggtcagtaa aagaaatcaa gcatagtcct
      901 gggcccacga gaacagtctc cactggcacg gcattgtcta aatataggag cagatctgca
      961 gatggggcca agaattactt cgaacatgag gagttaactg tgagccagct cctgctgtgc
     1021 ctaagggaag ggaatcagaa ggtggagaga cttgaagttg cactcaagga ggccaaagaa
     1081 agagtttcag attttgaaaa gaaaacaagt aatcgttctg agattgaaac ccagacagag
     1141 gggagcacag agaaagagaa tgatgaagag aaaggcccgg agactgttgg aagcgaagtg
     1201 gaagcactga acctccaggt gacatctctg tttaaggagc ttcaagaggc tcatacaaaa
     1261 ctcagcgaag ctgagctaat gaagaagaga cttcaagaaa agtgtcaggc ccttgaaagg
     1321 aaaaattctg caattccatc agagttgaat gaaaagcaag agcttgttta tactaacaaa
     1381 aagttagagc tacaagtgga aagcatgcta tcagaaatca aaatggaaca ggctaaaaca
     1441 gaggatgaaa agtccaaatt aactgtgcta cagatgacac acaacaagct tcttcaagaa
     1501 cataataatg cattgaaaac aattgaggaa ctaacaagaa aagagtcaga aaaagtggac
     1561 agggcagtgc tgaaggaact gagtgaaaaa ctggaactgg cagagaaggc tctggcttcc
     1621 aaacagctgc aaatggatga aatgaagcaa accattgcca agcaggaaga ggacctggaa
     1681 accatgacca tcctcagggc tcagatggaa gtttactgtt ctgattttca tgctgaaaga
     1741 gcagcgagag agaaaattca tgaggaaaag gagcaactgg cattgcagct ggcagttctg
     1801 ctgaaagaga atgatgcttt cgaagacgga ggcaggcagt ccttgatgga gatgcagagt
     1861 cgtcatgggg cgagaacaag tgactctgac cagcaggctt accttgttca aagaggagct
     1921 gaggacaggg actggcggca acagcggaat attccgattc attcctgccc caagtgtgga
     1981 gaggttctgc ctgacataga cacgttacag attcacgtga tggattgcat catttaagtg
     2041 ttgatgtatc acctccccaa aactgttggt aaatgtcaga ttttttcctc caagagttgt
     2101 gcttttgtgt tatttgtttt cactcaaata ttttgcctca ttattcttgt tttaaaagaa
     2161 agaaaacagg ccgggcacag tggctcatgc ctgtaatccc agcactttgg gaggtcgagg
     2221 tgggtggatc acttggggtc agggtttgag accagcctgg ccaacatggc ggaaccctgt
     2281 ctctaccaaa attacaaaaa ttagccgagc atggtggcgc atgcctgtag tcgcagctac
     2341 tcgcgaggtt gaggcaggag aattgcttga acccaggaag tggcagttgc agtgagccga
     2401 gacgacacca ctgcactcca gcctgggtga cagagggaga ctctgtctcg aaagaaagaa
     2461 agaaaaaaag gaaggaagga gaaggaagga aggagaagaa aaggtacctg ttctacgtag
     2521 aacacctttg gtggagttcc atcaactcgc aaagtagaat ccttacctac tactcttctg
     2581 ataataattt taatattttt tatgtttggt tgatgcgagc agctgcactg ctcatgcagt
     2641 tagctagcat gtgacatcat gtgacaaagt tcatgtaatt agatggaaga aacctcactg
     2701 attaatttta agaacctttt agggatgcag gaacaatgaa gtggccacag tatgtgctgt
     2761 ttttgaagca tttttaaaaa cgaattgtag ttgtttttct tcatttaaaa tggatctgtt
     2821 ggaggttatg tgtgtatgtt gtagttttat tgcagccaca ataattttac caaagttttc
     2881 acataggcag ttagccttta cttaatatca agacaagtga aaaaatattg gcatcgatga
     2941 aaccgataac attggcctca ttggatttct ttacccattc acagtgtaaa gaagttacct
     3001 tcatgctttc attgtacctg caggcctgtg ggcttgtaca gtagataatt aatttctaaa
     3061 aagaacagct gcctattttc ttcctaggtt aggttatatc ttcataatca caagaattag
     3121 tgatggcaaa ataaaatttt gcttatgaat cttttacatt gtttatatat gattaatatc
     3181 atcatatata ttttctgtat taagctcatt tggcttcatt taagctgtat acttagtcat
     3241 atatctttca ttagttctat ggatatgagc agatcccttt actggagccc agtatgtgct
     3301 gtgtgagtta gaagtcattc ttgctgagaa ggtgaatagg tagggatttg ccttgttttg
     3361 taagtctaca atttgccaag agtaaataac actggaccag ctgtaaaagt aaacagtgtg
     3421 tttatgcatt gagatactaa agcatttaag aaaaaattaa aagatctctt ttgtttaaa
//
