LOCUS       NM_019026               1912 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens transmembrane and coiled-coil domains 1 (TMCO1),
            transcript variant 1, mRNA.
ACCESSION   NM_019026
VERSION     NM_019026.6
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 1912)
  AUTHORS   Sun,G., Gong,S., Lan,S., He,Y., Sun,Y. and Zhang,Z.
  TITLE     TMCO1 regulates cell proliferation, metastasis and EMT signaling
            through CALR, promoting ovarian cancer progression and cisplatin
            resistance
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 70 (1), 99-109 (2024)
   PUBMED   38372107
  REMARK    GeneRIF: TMCO1 regulates cell proliferation, metastasis and EMT
            signaling through CALR, promoting ovarian cancer progression and
            cisplatin resistance.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1912)
  AUTHORS   Mukamel,R.E., Handsaker,R.E., Sherman,M.A., Barton,A.R.,
            Hujoel,M.L.A., McCarroll,S.A. and Loh,P.R.
  TITLE     Repeat polymorphisms underlie top genetic risk loci for glaucoma
            and colorectal cancer
  JOURNAL   Cell 186 (17), 3659-3673 (2023)
   PUBMED   37527660
  REMARK    GeneRIF: Repeat polymorphisms underlie top genetic risk loci for
            glaucoma and colorectal cancer.
REFERENCE   3  (bases 1 to 1912)
  AUTHORS   Abdelrazek,I.M., Holling,T., Harms,F.L., Alawi,M., Omar,T.,
            Abdalla,E. and Kutsche,K.
  TITLE     Craniofacial dysmorphism, skeletal anomalies, and impaired
            intellectual development syndrome-1 in two new patients with the
            same homozygous TMCO1 variant and review of the literature
  JOURNAL   Eur J Med Genet 66 (3), 104715 (2023)
   PUBMED   36708876
  REMARK    GeneRIF: Craniofacial dysmorphism, skeletal anomalies, and impaired
            intellectual development syndrome-1 in two new patients with the
            same homozygous TMCO1 variant and review of the literature.
            Review article
REFERENCE   4  (bases 1 to 1912)
  AUTHORS   Sundaram,A., Yamsek,M., Zhong,F., Hooda,Y., Hegde,R.S. and
            Keenan,R.J.
  TITLE     Substrate-driven assembly of a translocon for multipass membrane
            proteins
  JOURNAL   Nature 611 (7934), 167-172 (2022)
   PUBMED   36261522
REFERENCE   5  (bases 1 to 1912)
  AUTHORS   Zheng,S., Zhao,D., Hou,G., Zhao,S., Zhang,W., Wang,X., Li,L.,
            Lin,L., Tang,T.S. and Hu,Y.
  TITLE     iASPP suppresses Gp78-mediated TMCO1 degradation to maintain Ca2+
            homeostasis and control tumor growth and drug resistance
  JOURNAL   Proc Natl Acad Sci U S A 119 (6) (2022)
   PUBMED   35121659
  REMARK    GeneRIF: iASPP suppresses Gp78-mediated TMCO1 degradation to
            maintain Ca(2+) homeostasis and control tumor growth and drug
            resistance.
REFERENCE   6  (bases 1 to 1912)
  AUTHORS   Sharma,S., Burdon,K.P., Chidlow,G., Klebe,S., Crawford,A.,
            Dimasi,D.P., Dave,A., Martin,S., Javadiyan,S., Wood,J.P.,
            Casson,R., Danoy,P., Griggs,K., Hewitt,A.W., Landers,J.,
            Mitchell,P., Mackey,D.A. and Craig,J.E.
  TITLE     Association of genetic variants in the TMCO1 gene with clinical
            parameters related to glaucoma and characterization of the protein
            in the eye
  JOURNAL   Invest Ophthalmol Vis Sci 53 (8), 4917-4925 (2012)
   PUBMED   22714896
  REMARK    GeneRIF: This study shows a relationship between genetic variation
            in and around TMCO1 with age at diagnosis of POAG and provides
            clues to the potential cellular function/s of this gene.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1912)
  AUTHORS   van Koolwijk,L.M., Ramdas,W.D., Ikram,M.K., Jansonius,N.M.,
            Pasutto,F., Hysi,P.G., Macgregor,S., Janssen,S.F., Hewitt,A.W.,
            Viswanathan,A.C., ten Brink,J.B., Hosseini,S.M., Amin,N.,
            Despriet,D.D., Willemse-Assink,J.J., Kramer,R., Rivadeneira,F.,
            Struchalin,M., Aulchenko,Y.S., Weisschuh,N., Zenkel,M.,
            Mardin,C.Y., Gramer,E., Welge-Lussen,U., Montgomery,G.W.,
            Carbonaro,F., Young,T.L., Bellenguez,C., McGuffin,P., Foster,P.J.,
            Topouzis,F., Mitchell,P., Wang,J.J., Wong,T.Y., Czudowska,M.A.,
            Hofman,A., Uitterlinden,A.G., Wolfs,R.C., de Jong,P.T.,
            Oostra,B.A., Paterson,A.D., Mackey,D.A., Bergen,A.A., Reis,A.,
            Hammond,C.J., Vingerling,J.R., Lemij,H.G., Klaver,C.C. and van
            Duijn,C.M.
  CONSRTM   DCCT/EDIC Research Group; Wellcome Trust Case Control Consortium 2
  TITLE     Common genetic determinants of intraocular pressure and primary
            open-angle glaucoma
  JOURNAL   PLoS Genet 8 (5), e1002611 (2012)
   PUBMED   22570627
  REMARK    GeneRIF: Intraocular pressure (IOP)was significantly associated
            with rs11656696, located in GAS7 at 17p13.1 and with rs7555523,
            located in TMCO1 at 1q24.1.These data suggest that we have
            identified two clinically relevant genes involved in IOP
            regulation.
REFERENCE   8  (bases 1 to 1912)
  AUTHORS   Burdon,K.P., Macgregor,S., Hewitt,A.W., Sharma,S., Chidlow,G.,
            Mills,R.A., Danoy,P., Casson,R., Viswanathan,A.C., Liu,J.Z.,
            Landers,J., Henders,A.K., Wood,J., Souzeau,E., Crawford,A., Leo,P.,
            Wang,J.J., Rochtchina,E., Nyholt,D.R., Martin,N.G.,
            Montgomery,G.W., Mitchell,P., Brown,M.A., Mackey,D.A. and
            Craig,J.E.
  TITLE     Genome-wide association study identifies susceptibility loci for
            open angle glaucoma at TMCO1 and CDKN2B-AS1
  JOURNAL   Nat Genet 43 (6), 574-578 (2011)
   PUBMED   21532571
  REMARK    GeneRIF: We report a genome-wide association study for open-angle
            glaucoma (OAG) blindness at tnco1 and cdkn2b loci.
REFERENCE   9  (bases 1 to 1912)
  AUTHORS   Xin,B., Puffenberger,E.G., Turben,S., Tan,H., Zhou,A. and Wang,H.
  TITLE     Homozygous frameshift mutation in TMCO1 causes a syndrome with
            craniofacial dysmorphism, skeletal anomalies, and mental
            retardation
  JOURNAL   Proc Natl Acad Sci U S A 107 (1), 258-263 (2010)
   PUBMED   20018682
  REMARK    GeneRIF: This report shows a TMCO1 sequence variant being
            associated with a genetic disorder in humans.
REFERENCE   10 (bases 1 to 1912)
  AUTHORS   Iwamuro,S., Saeki,M. and Kato,S.
  TITLE     Multi-ubiquitination of a nascent membrane protein produced in a
            rabbit reticulocyte lysate
  JOURNAL   J Biochem 126 (1), 48-53 (1999)
   PUBMED   10393320
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF070626.1 and AL451074.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 26, 2020 this sequence version replaced NM_019026.5.
            
            Summary: This locus encodes a transmembrane protein. Mutations at
            this locus have been associated with craniofacial dysmorphism,
            skeletal anomalies, and cognitive disability. Mutations at this
            locus have also been associated with open angle glaucoma blindness.
            Alternatively spliced transcript variants have been described.
            [provided by RefSeq, Jan 2012].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: SRR1660803.153680.1, AY763589.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367881.11/ ENSP00000356856.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1166              AF070626.1         11-1176
            1167-1912           AL451074.13        79722-80467         c
FEATURES             Location/Qualifiers
     source          1..1912
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.1"
     gene            1..1912
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
                     /note="transmembrane and coiled-coil domains 1"
                     /db_xref="GeneID:54499"
                     /db_xref="HGNC:HGNC:18188"
                     /db_xref="MIM:614123"
     exon            1..187
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
                     /inference="alignment:Splign:2.1.0"
     CDS             118..684
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
                     /note="isoform a is encoded by transcript variant 1;
                     transmembrane and coiled-coil domains 4; putative membrane
                     protein; transmembrane and coiled-coil domain-containing
                     protein 1; xenogeneic cross-immune protein PCIA3; CLAC
                     channel; calcium load-activated calcium channel; Ca(2+)
                     load-activated Ca(2+) channel; GEL complex subunit TMCO1"
                     /codon_start=1
                     /product="calcium load-activated calcium channel isoform
                     a"
                     /protein_id="NP_061899.3"
                     /db_xref="CCDS:CCDS1251.3"
                     /db_xref="GeneID:54499"
                     /db_xref="HGNC:HGNC:18188"
                     /db_xref="MIM:614123"
                     /translation="MSTMFADTLLIVFISVCTALLAEGITWVLVYRTDKYKRLKAEVE
                     KQSKKLEKKKETITESAGRQQKKKIERQEEKLKNNNRDLSMVRMKSMFAIGFCFTALM
                     GMFNSIFDGRVVAKLPFTPLSYIQGLSHRNLLGDDTTDCSFIFLYILCTMSIRQNIQK
                     ILGLAPSRAATKQAGGFLGPPPPSGKFS"
     exon            188..265
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
                     /inference="alignment:Splign:2.1.0"
     exon            266..325
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
                     /inference="alignment:Splign:2.1.0"
     exon            326..372
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
                     /inference="alignment:Splign:2.1.0"
     exon            373..440
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
                     /inference="alignment:Splign:2.1.0"
     exon            441..585
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
                     /inference="alignment:Splign:2.1.0"
     exon            586..1912
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1133..1138
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
                     /note="hexamer: AATAAA"
     polyA_site      1166
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
                     /note="major polyA site"
     regulatory      1241..1246
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
                     /note="hexamer: AATAAA"
     polyA_site      1264
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
     regulatory      1427..1432
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
                     /note="hexamer: AATAAA"
     polyA_site      1437
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
     regulatory      1674..1679
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
                     /note="hexamer: AATAAA"
     polyA_site      1696
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
     regulatory      1886..1891
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
                     /note="hexamer: AATAAA"
     polyA_site      1912
                     /gene="TMCO1"
                     /gene_synonym="CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4"
ORIGIN      
        1 agagttggtc tgttactcgg tggtggcgga gtctacggaa gccgttttcg cttcactttt
       61 cctggctgta gagcgctttc cccctggcgg gtgagagtgc agagacgaag gtgcgagatg
      121 agcactatgt tcgcggacac tctcctcatc gtttttatct ctgtgtgcac ggctctgctc
      181 gcagagggca taacctgggt cctggtttac aggacagaca agtacaagag actgaaggca
      241 gaagtggaaa aacagagtaa aaaattggaa aagaagaagg aaacaataac agagtcagct
      301 ggtcgacaac agaaaaagaa aatagagaga caagaagaga aactgaagaa taacaacaga
      361 gatctatcaa tggttcgaat gaaatccatg tttgctattg gcttttgttt tactgcccta
      421 atgggaatgt tcaattccat atttgatggt agagtggtgg caaagcttcc ttttacccct
      481 ctttcttaca tccaaggact gtctcatcga aatctgctgg gagatgacac cacagactgt
      541 tccttcattt tcctgtatat tctctgtact atgtcgattc gacagaacat tcagaagatt
      601 ctcggccttg ccccttcacg agccgccacc aagcaggcag gtggatttct tggcccacca
      661 cctccttctg ggaagttctc ttgaactcaa gaactcttta ttttctatca ttctttctag
      721 acacacacac atcagactgg caactgtttt gtagcaagag ccataggtag ccttactact
      781 tgggcctctt tctagttttg aattatttct aagccttttg ggtatgatta gagtgaaaat
      841 ggcagccagc aaacttgata gtgcttttgg tcctagatga tttttatcaa ataagtggat
      901 tgattagtta agttcaggta atgtttatgt aatgaaaaac aaatagcatc cttcttgttt
      961 catttacata agtattttct gtgggaccga ctctcaaggc actgtgtatg ccctgcaagt
     1021 tggctgtcta tgagcattta gagatttaga agaaaaattt agtttgttta acccttgtaa
     1081 ctgtttgttt tgttgttgtt tttttttcaa gccaaataca tgacataaga tcaataaaga
     1141 ggccaaattt ttagctgttt tatgtacaag gagagatctg tttcattttg ttttgccgta
     1201 tttctagata taagttttag catgggccag gaaggactaa aataaaagtt tttaaggtac
     1261 tgtacttttt gccatacttg actcatatac tcaaaataca gagttgtctt ggtgtaggaa
     1321 ttggaaagca agagtggaaa ggaacgtaat aactcgttgg agtttaaaaa tgagggtctt
     1381 ggcaagtaac actgatgtct gaaaaaaaat taaatataaa taaataaata aaaatgaggg
     1441 tcctcagctg ttctcttcat atcctattac agtctctcag attcttgtgg gggcactctt
     1501 agatctccct tggagacaag gttatagtta tatgttgtta atctcgcaga gcttcctttt
     1561 agtcacaata gccttcattt tctgccatgc cccttcataa gggagaagga tgtttgtacc
     1621 atgatcctcc ccgcataatc tatggaatta ggagtcctgt gtggagtctt atcaataaat
     1681 atgcacattc atcaaatgtc tacttaaatg tgagtattct accagtgaga aaaaacacat
     1741 aattttcaag gtaatcattg ttaaaccaac agcaaacttc tttcttatca gcaccataaa
     1801 gtccagaaga cagtagaaaa gtatcttcaa agtgctgagg aaaataagta tcaacttaga
     1861 attttatgta caatattgga ggcaaaataa agacatgttt agacatacaa aa
//
