LOCUS       NM_014573               2463 bp    mRNA    linear   PRI 14-APR-2024
DEFINITION  Homo sapiens transmembrane protein 97 (TMEM97), mRNA.
ACCESSION   NM_014573
VERSION     NM_014573.3
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 2463)
  AUTHORS   Colom-Cadena,M., Toombs,J., Simzer,E., Holt,K., McGeachan,R.,
            Tulloch,J., Jackson,R.J., Catterson,J.H., Spires-Jones,M.P.,
            Rose,J., Waybright,L., Caggiano,A.O., King,D., Gobbo,F., Davies,C.,
            Hooley,M., Dunnett,S., Tempelaar,R., Meftah,S., Tzioras,M.,
            Hamby,M.E., Izzo,N.J., Catalano,S.M., Durrant,C.S., Smith,C.,
            Dando,O. and Spires-Jones,T.L.
  TITLE     Transmembrane protein 97 is a potential synaptic amyloid beta
            receptor in human Alzheimer's disease
  JOURNAL   Acta Neuropathol 147 (1), 32 (2024)
   PUBMED   38319380
  REMARK    GeneRIF: Transmembrane protein 97 is a potential synaptic amyloid
            beta receptor in human Alzheimer's disease.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2463)
  AUTHORS   Xu,Y., Tang,Y., Xu,Q. and He,W.
  TITLE     TMEM97 knockdown inhibits 5-fluorouracil resistance by regulating
            epithelial-mesenchymal transition and ABC transporter expression
            via inactivating the Akt/mTOR pathway in 5-fluorouracil-resistant
            colorectal cancer cells
  JOURNAL   Chem Biol Drug Des 103 (2), e14490 (2024)
   PUBMED   38388887
  REMARK    GeneRIF: TMEM97 knockdown inhibits 5-fluorouracil resistance by
            regulating epithelial-mesenchymal transition and ABC transporter
            expression via inactivating the Akt/mTOR pathway in
            5-fluorouracil-resistant colorectal cancer cells.
REFERENCE   3  (bases 1 to 2463)
  AUTHORS   Thejer,B.M., Infantino,V., Santarsiero,A., Pappalardo,I.,
            Abatematteo,F.S., Teakel,S., Van Oosterum,A., Mach,R.H., Denora,N.,
            Lee,B.C., Resta,N., Bagnulo,R., Niso,M., Contino,M., Montsch,B.,
            Heffeter,P., Abate,C. and Cahill,M.A.
  TITLE     Sigma-2 Receptor Ligand Binding Modulates Association between TSPO
            and TMEM97
  JOURNAL   Int J Mol Sci 24 (7), 6381 (2023)
   PUBMED   37047353
  REMARK    GeneRIF: Sigma-2 Receptor Ligand Binding Modulates Association
            between TSPO and TMEM97.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2463)
  AUTHORS   Mao,D., Zhang,X., Wang,Z., Xu,G. and Zhang,Y.
  TITLE     TMEM97 is transcriptionally activated by YY1 and promotes
            colorectal cancer progression via the GSK-3beta/beta-catenin
            signaling pathway
  JOURNAL   Hum Cell 35 (5), 1535-1546 (2022)
   PUBMED   35907137
  REMARK    GeneRIF: TMEM97 is transcriptionally activated by YY1 and promotes
            colorectal cancer progression via the GSK-3beta/beta-catenin
            signaling pathway.
REFERENCE   5  (bases 1 to 2463)
  AUTHORS   Ma,D., Sun,W., Fu,C., Nazmi,K., Veerman,E.C.I., Jaspers,R.T.,
            Bolscher,J.G.M., Bikker,F.J. and Wu,G.
  TITLE     GPCR/endocytosis/ERK signaling/S2R is involved in the regulation of
            the internalization, mitochondria-targeting and -activating
            properties of human salivary histatin 1
  JOURNAL   Int J Oral Sci 14 (1), 42 (2022)
   PUBMED   35970844
  REMARK    GeneRIF: GPCR/endocytosis/ERK signaling/S2R is involved in the
            regulation of the internalization, mitochondria-targeting and
            -activating properties of human salivary histatin 1.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2463)
  AUTHORS   Bartz,F., Kern,L., Erz,D., Zhu,M., Gilbert,D., Meinhof,T.,
            Wirkner,U., Erfle,H., Muckenthaler,M., Pepperkok,R. and Runz,H.
  TITLE     Identification of cholesterol-regulating genes by targeted RNAi
            screening
  JOURNAL   Cell Metab 10 (1), 63-75 (2009)
   PUBMED   19583955
REFERENCE   7  (bases 1 to 2463)
  AUTHORS   Wilcox,C.B., Feddes,G.O., Willett-Brozick,J.E., Hsu,L.C.,
            DeLoia,J.A. and Baysal,B.E.
  TITLE     Coordinate up-regulation of TMEM97 and cholesterol biosynthesis
            genes in normal ovarian surface epithelial cells treated with
            progesterone: implications for pathogenesis of ovarian cancer
  JOURNAL   BMC Cancer 7, 223 (2007)
   PUBMED   18070364
  REMARK    GeneRIF: The most up-regulated gene was TMEM97 which encodes a
            transmembrane protein of unknown function (MAC30).
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2463)
  AUTHORS   Moparthi,S.B., Arbman,G., Wallin,A., Kayed,H., Kleeff,J.,
            Zentgraf,H. and Sun,X.F.
  TITLE     Expression of MAC30 protein is related to survival and biological
            variables in primary and metastatic colorectal cancers
  JOURNAL   Int J Oncol 30 (1), 91-95 (2007)
   PUBMED   17143516
  REMARK    GeneRIF: MAC30 protein may play a role in development of colorectal
            cancer, and can be considered as a prognostic factor.
REFERENCE   9  (bases 1 to 2463)
  AUTHORS   Kayed,H., Kleeff,J., Ding,J., Hammer,J., Giese,T., Zentgraf,H.,
            Buchler,M.W. and Friess,H.
  TITLE     Expression analysis of MAC30 in human pancreatic cancer and tumors
            of the gastrointestinal tract
  JOURNAL   Histol Histopathol 19 (4), 1021-1031 (2004)
   PUBMED   15375745
  REMARK    GeneRIF: MAC30 mRNA and protein expression in normal and cancerous
            tissue samples of the esophagus, stomach, colon and pancreas
REFERENCE   10 (bases 1 to 2463)
  AUTHORS   Murphy,M., Pykett,M.J., Harnish,P., Zang,K.D. and George,D.L.
  TITLE     Identification and characterization of genes differentially
            expressed in meningiomas
  JOURNAL   Cell Growth Differ 4 (9), 715-722 (1993)
   PUBMED   7694637
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA410183.1, BC091504.1, AC002094.1 and CA441136.1.
            
            On Nov 23, 2018 this sequence version replaced NM_014573.2.
            
            Summary: TMEM97 is a conserved integral membrane protein that plays
            a role in controlling cellular cholesterol levels (Bartz et al.,
            2009 [PubMed 19583955]).[supplied by OMIM, Aug 2009].
            
            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 :: SRR1803614.97499.1,
                                           SRR5189661.190685.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000226230.8/ ENSP00000226230.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                DA410183.1         106-129
            25-756              BC091504.1         1-732
            757-1940            AC002094.1         72905-74088         c
            1941-2463           CA441136.1         18-540              c
FEATURES             Location/Qualifiers
     source          1..2463
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..2463
                     /gene="TMEM97"
                     /gene_synonym="MAC30; S2R; sigma2R"
                     /note="transmembrane protein 97"
                     /db_xref="GeneID:27346"
                     /db_xref="HGNC:HGNC:28106"
                     /db_xref="MIM:612912"
     exon            1..166
                     /gene="TMEM97"
                     /gene_synonym="MAC30; S2R; sigma2R"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..571
                     /gene="TMEM97"
                     /gene_synonym="MAC30; S2R; sigma2R"
                     /note="meningioma-associated protein 30; sigma2 receptor;
                     sigma-2 receptor"
                     /codon_start=1
                     /product="sigma intracellular receptor 2"
                     /protein_id="NP_055388.2"
                     /db_xref="CCDS:CCDS11226.2"
                     /db_xref="GeneID:27346"
                     /db_xref="HGNC:HGNC:28106"
                     /db_xref="MIM:612912"
                     /translation="MGAPATRRCVEWLLGLYFLSHIPITLFMDLQAVLPRELYPVEFR
                     NLLKWYAKEFKDPLLQEPPAWFKSFLFCELVFQLPFFPIATYAFLKGSCKWIRTPAII
                     YSVHTMTTLIPILSTFLFEDFSKASGFKGQRPETLHERLTLVSVYAPYLLIPFILLIF
                     MLRSPYYKYEEKRKKK"
     exon            167..311
                     /gene="TMEM97"
                     /gene_synonym="MAC30; S2R; sigma2R"
                     /inference="alignment:Splign:2.1.0"
     exon            312..2463
                     /gene="TMEM97"
                     /gene_synonym="MAC30; S2R; sigma2R"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1983..1988
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM97"
                     /gene_synonym="MAC30; S2R; sigma2R"
                     /note="hexamer: AATAAA"
     polyA_site      2003
                     /gene="TMEM97"
                     /gene_synonym="MAC30; S2R; sigma2R"
                     /note="major polyA site"
     regulatory      2442..2447
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM97"
                     /gene_synonym="MAC30; S2R; sigma2R"
                     /note="hexamer: AATAAA"
     polyA_site      2463
                     /gene="TMEM97"
                     /gene_synonym="MAC30; S2R; sigma2R"
ORIGIN      
        1 ctcttctcac atcagcgggt ccaggcccaa ccgacagact atgggggctc cggcaaccag
       61 gcgctgcgtg gagtggctgc tgggcctcta cttcctcagc cacatcccca tcaccctgtt
      121 catggacctg caggcggtgc tgccgcgcga gctctaccca gtcgagttta gaaacctgct
      181 gaagtggtat gctaaggagt tcaaagaccc actgctacag gagcccccag cctggtttaa
      241 gtcctttctg ttttgcgagc ttgtgtttca gctgcctttc tttcccattg caacgtatgc
      301 cttcctcaaa ggaagctgca agtggattcg aactcctgca atcatctact ctgttcacac
      361 catgacaacc ttaattccga tactctccac atttctgttt gaggatttct ccaaagccag
      421 tggtttcaag ggacaaagac ctgagacttt gcatgaacgg ttaacccttg tgtctgtcta
      481 tgccccctac ttactcatcc cattcatact tttaattttc atgttgcgga gcccctacta
      541 caagtatgaa gagaaaagaa aaaaaaaatg aaggaaacaa ccactggccc agggtagaga
      601 tgcctacagg gtggttgctt gttggataca atacaaggaa cactgctcag aacccacgtc
      661 ttcagcagca tttgaaacac tggcagcaat gcacaagagc aagatggtgt caggaaccat
      721 gtcaaaccct caccttcttc catttttttt ttttttttaa gacagtctca ctctgttgcc
      781 caggctggag taaagggcag tggcatgatc tcggctcact gcaacctccg cctcctgggc
      841 tcaagccatc ttccttagcc tcccaagtag ctagaactac aggtgtgtac caacacgtat
      901 ggctaatttg ttttgttttt tttgtgtgtg tggagacagg gttttgccat gttgcccagg
      961 ttggtctcga acgcctaggc tcaagtgatc tgcccacctc agtctcccta agtgctggga
     1021 ttacagacgt gaaccactgg gcccagccca aaccttcacc ttctaagggc actgggatga
     1081 acagaccgat cggcttgagg gtgggcaaag gggtgtgggc taggttataa ggaagtggta
     1141 ccaaataact gtgtgcctga gttccaccgc aagattacta aaagcaggac cagaccagaa
     1201 actgctaaag aacatggcct gtttgacatg ttcatgagtc acctgaccca cagcatatat
     1261 gcttatgact aaaccctcca ctcctgattc tcaagagtgt atcacctgtc agcaaaatga
     1321 atagtgggat attttgggcc attttaaatg tgaaattttg cctctttaat gttaattcaa
     1381 aactatatca atgttttctt gttcccacct ctaacccaag gaaaaaagag aaaacatact
     1441 atgcaaagga agtttaaact taagttttcc ttaagggtca gcccaacaat gactttcagt
     1501 caaatggatt aaactggaaa atgtttttgt ttctgttgta aacagatcat cctaggcgaa
     1561 agtttttttt gtttgtttgc ttttaaatta gtttatttct aaatcttagt cttccacatt
     1621 tctagaggcc acctgacaca agtccctgta tctgaagtct agcatctcaa ggctgatctg
     1681 gaagtgtgct agtatgctcc ctagtggata acttaatctt ttaatacagt tccgtcattc
     1741 ccatcttgtt ttcagaagag aaggtggcta cagccaggca taacatatcc actgtgtgca
     1801 tagagggtct cttcacgttg atgcttggca ttccatcagc tttctctaag tctttgctca
     1861 agttcaacct taaaatgatg ttagacaaca ggtcccagtc agttccctct attttcaccc
     1921 attttgctca caagccatat tggcccgatt agtggtactg tctgactcac gtgtgtgatc
     1981 caaataaagg tagctgctga ccactgcctg gtttgttttg tggactaggg gatagagaat
     2041 ccagggttct ctcatgagga gttaaacata tttcaagagc aacaggaaaa aaggtacatc
     2101 aagccatttg aaaacaaaaa tttattgctt ctccttccaa agctttgtga atttacaaaa
     2161 aaaaggatga aagtttacaa actgcttagt tccaactaag cataagaggt gagaacgtac
     2221 actgcagggc caccagcagc agctgtgcac tgatgttaaa actggctccc ccagacttgt
     2281 agtgctgtct tcagggggct gcattcctta cacgccacct cttgtgacat aggtcattgg
     2341 tcaagccgct ggaatgctac agaggttttt ttggttttga gaggcttttt tttgttttgc
     2401 cttcctacta taaaagcgaa attttcagtt catttctgaa aaataaattg gtcaataaat
     2461 tca
//
