LOCUS       NM_018306               2025 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens transmembrane protein 40 (TMEM40), transcript variant
            2, mRNA.
ACCESSION   NM_018306
VERSION     NM_018306.4
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 2025)
  AUTHORS   Lim,S.H., Snider,J., Birimberg-Schwartz,L., Ip,W., Serralha,J.C.,
            Botelho,H.M., Lopes-Pacheco,M., Pinto,M.C., Moutaoufik,M.T.,
            Zilocchi,M., Laselva,O., Esmaeili,M., Kotlyar,M., Lyakisheva,A.,
            Tang,P., Lopez Vazquez,L., Akula,I., Aboualizadeh,F., Wong,V.,
            Grozavu,I., Opacak-Bernardi,T., Yao,Z., Mendoza,M., Babu,M.,
            Jurisica,I., Gonska,T., Bear,C.E., Amaral,M.D. and Stagljar,I.
  TITLE     CFTR interactome mapping using the mammalian membrane two-hybrid
            high-throughput screening system
  JOURNAL   Mol Syst Biol 18 (2), e10629 (2022)
   PUBMED   35156780
REFERENCE   2  (bases 1 to 2025)
  AUTHORS   Zhang,Q., Huang,D., Zhang,Z., Feng,Y., Fu,M., Wei,M., Zhou,J.,
            Huang,Y., Liu,S. and Shi,R.
  TITLE     High expression of TMEM40 contributes to progressive features of
            tongue squamous cell carcinoma
  JOURNAL   Oncol Rep 41 (1), 154-164 (2019)
   PUBMED   30320346
  REMARK    GeneRIF: Study found that TMEM40 expression was increased in tongue
            squamous cell carcinoma (TSCC) tissues and associated with
            clinicopathological parameters. Further results indicated that
            TMEM40 promoted TSCC development and progression via regulation of
            p53, Bax and MMP9.
REFERENCE   3  (bases 1 to 2025)
  AUTHORS   Zhang,Z.F., Zhang,H.R., Zhang,Q.Y., Lai,S.Y., Feng,Y.Z., Zhou,Y.,
            Zheng,S.R., Shi,R. and Zhou,J.Y.
  TITLE     High expression of TMEM40 is associated with the malignant behavior
            and tumorigenesis in bladder cancer
  JOURNAL   J Transl Med 16 (1), 9 (2018)
   PUBMED   29351801
  REMARK    GeneRIF: TMEM40 represents a potential oncogene, which exert a
            crucial role in the proliferation and apoptosis via the p53
            signaling pathway in bladder cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2025)
  AUTHORS   Pankow,S., Bamberger,C., Calzolari,D., Martinez-Bartolome,S.,
            Lavallee-Adam,M., Balch,W.E. and Yates,J.R. 3rd.
  TITLE     F508 CFTR interactome remodelling promotes rescue of cystic
            fibrosis
  JOURNAL   Nature 528 (7583), 510-516 (2015)
   PUBMED   26618866
REFERENCE   5  (bases 1 to 2025)
  AUTHORS   Macaulay,I.C., Tijssen,M.R., Thijssen-Timmer,D.C., Gusnanto,A.,
            Steward,M., Burns,P., Langford,C.F., Ellis,P.D., Dudbridge,F.,
            Zwaginga,J.J., Watkins,N.A., van der Schoot,C.E. and Ouwehand,W.H.
  TITLE     Comparative gene expression profiling of in vitro differentiated
            megakaryocytes and erythroblasts identifies novel activatory and
            inhibitory platelet membrane proteins
  JOURNAL   Blood 109 (8), 3260-3269 (2007)
   PUBMED   17192395
REFERENCE   6  (bases 1 to 2025)
  AUTHORS   Gevaert,K., Goethals,M., Martens,L., Van Damme,J., Staes,A.,
            Thomas,G.R. and Vandekerckhove,J.
  TITLE     Exploring proteomes and analyzing protein processing by mass
            spectrometric identification of sorted N-terminal peptides
  JOURNAL   Nat Biotechnol 21 (5), 566-569 (2003)
   PUBMED   12665801
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK092470.1, AK001898.1, AI452552.1 and AC034198.7.
            
            On Nov 23, 2018 this sequence version replaced NM_018306.3.
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream in-frame start codon, compared to variant 1. The encoded
            isoform (b) is shorter at the N-terminus, compared to isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK092470.1, BX334345.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968540,
                                           SAMEA1968832 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000314124.12/ ENSP00000322837.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-859               AK092470.1         51-909
            860-1360            AK001898.1         752-1252
            1361-1660           AK092470.1         1411-1710
            1661-2023           AI452552.1         5-367               c
            2024-2025           AC034198.7         147822-147823
FEATURES             Location/Qualifiers
     source          1..2025
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.2"
     gene            1..2025
                     /gene="TMEM40"
                     /note="transmembrane protein 40"
                     /db_xref="GeneID:55287"
                     /db_xref="HGNC:HGNC:25620"
     exon            1..69
                     /gene="TMEM40"
                     /inference="alignment:Splign:2.1.0"
     exon            70..150
                     /gene="TMEM40"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..779
                     /gene="TMEM40"
                     /note="isoform b is encoded by transcript variant 2"
                     /codon_start=1
                     /product="transmembrane protein 40 isoform b"
                     /protein_id="NP_060776.2"
                     /db_xref="CCDS:CCDS2613.1"
                     /db_xref="GeneID:55287"
                     /db_xref="HGNC:HGNC:25620"
                     /translation="METSASSSQPQDNSQVHRETEDVDYGETDFHKQDGKAGLFSQEQ
                     YERNKSSSSSSSSSSSSSSSSSSSSSESNDEDQQPRATGKHRRSLGAGYPHGNGSPGP
                     GHGEPDVLKDELQLYGDAPGEVVPSGESGLRRRGSDPASGEVEASQLRRLNIKKDDEF
                     FHFVLLCFAIGALLVCYHYYADWFMSLGVGLLTFASLETVGIYFGLVYRIHSVLQGFI
                     PLFQKFRLTGFRKTD"
     exon            151..288
                     /gene="TMEM40"
                     /inference="alignment:Splign:2.1.0"
     exon            289..378
                     /gene="TMEM40"
                     /inference="alignment:Splign:2.1.0"
     exon            379..432
                     /gene="TMEM40"
                     /inference="alignment:Splign:2.1.0"
     exon            433..468
                     /gene="TMEM40"
                     /inference="alignment:Splign:2.1.0"
     exon            469..501
                     /gene="TMEM40"
                     /inference="alignment:Splign:2.1.0"
     exon            502..549
                     /gene="TMEM40"
                     /inference="alignment:Splign:2.1.0"
     exon            550..621
                     /gene="TMEM40"
                     /inference="alignment:Splign:2.1.0"
     exon            622..696
                     /gene="TMEM40"
                     /inference="alignment:Splign:2.1.0"
     exon            697..759
                     /gene="TMEM40"
                     /inference="alignment:Splign:2.1.0"
     exon            760..2025
                     /gene="TMEM40"
                     /inference="alignment:Splign:2.1.0"
     regulatory      894..899
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM40"
                     /note="hexamer: AATAAA"
     polyA_site      918
                     /gene="TMEM40"
                     /note="major polyA site"
     regulatory      2003..2008
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM40"
                     /note="hexamer: AATAAA"
     polyA_site      2025
                     /gene="TMEM40"
                     /note="major polyA site"
ORIGIN      
        1 gaccagccca gcatccacat agtctacaca gagctcccct tgctgcccag acaagctgaa
       61 ggaccacagg aaaagccatg gagacttcag catcctcctc ccagcctcag gacaacagtc
      121 aagtccacag agaaacagaa gatgtagact atggagagac agatttccac aagcaagatg
      181 ggaaggctgg actcttttcc caagaacaat atgagagaaa caagtcttct tcctcctcct
      241 cctcttcctc ctcatcctcc tcatcttctt catcctcctc ctcctcagag agcaatgatg
      301 aggaccagca acccagagca accggaaaac atcgacggag cctgggggct ggataccccc
      361 acgggaacgg ctcacccggt cctgggcatg gggagcctga cgttttgaag gatgagcttc
      421 aactctatgg agatgctcct ggagaggtgg taccctctgg ggaatcagga ctccgaagga
      481 gaggctctga cccagcaagt ggagaagtgg aggcctctca gttaagaaga ctgaatataa
      541 agaaagatga tgagtttttc catttcgtcc tcctgtgctt tgccatcggg gccttgctgg
      601 tgtgttatca ctattacgca gactggttca tgtctcttgg ggtcggcctg ctcaccttcg
      661 cctccctgga aaccgttggc atctacttcg gactagtgta ccgtatccac agcgtcctcc
      721 aaggcttcat ccccctcttc cagaagttta ggctgacagg gttcaggaag actgactgag
      781 gccacttcca ggtgggcagc agaggcaggc cccagtgtga ccaccactgc gacccctgag
      841 cccacaaggg cagagcagca ttctgagaga cgcacaggag accaagccag accaataaac
      901 agaacacttt tccttccatg tggtctgaat gttggcacca gcccgggcag gggcatctca
      961 tttgggcagt actgctgtgc aacccagctg caaggatgga aggcagaggg tgggtgtggg
     1021 gcctgaggct tcacagtacc tggaccagca ggaagattct gggaggtcac tgctctcaga
     1081 ggacagcaag ggaccctgag ctctgcaagc tgtgatctgt ctgggttcat ggtttttctc
     1141 aaatcccagg ctatctgcat gcgctctcag gtgctaccga gccatcctgg gagagatgga
     1201 tggtccactg ctttgaggca gggagccatc gggctggggc cccttggtga acctgatgca
     1261 ggtaagatgc tgaggactaa aaccattttt tttgcaccca aaaaaaaagg caggaaaatg
     1321 atcatcagaa actaaatggc agccaggcat gggggctcac aactgtaatc ctcgcacttt
     1381 gggaggctca ggctaagggt cgcttgaagc tgagagttca agaccaacct gggcaacata
     1441 gtgagacccc catctctaca attttttttt aatgaccaaa tgtggcggta catacctgta
     1501 catacctgcg gttccagcta ctcaagaggc tgaggcagga ggactgcttg agcccaggag
     1561 ttcagggctg cagtgaggta cgatcaagcc actgcactcc agcctgggcg acagagcaag
     1621 atcgtttctc taaaattaaa aaaaaaaaaa aaagacaaat aaaaattgca tgtatttgta
     1681 gtgtacaaca tgttttgaaa tatgtggaat ggctaaatca agctaattaa catatgtatc
     1741 cctcacatac ccttttttta tgatgagaac agtaaaaacc tactgtcagc aatttgcaaa
     1801 gtatacaata cattgttatt aactatggtc accatgctat gtgattgata tcctgaactt
     1861 gaactgagtt cttgatggtc acagacatgc tgttctcaaa actcagaagg gtaacttctg
     1921 aggttttgat ttcaagtact tgtatgtaac ctaatttaac gggagcccag agtgcacaga
     1981 tcagatattt attaaacata taaataaaac acagttttca cgata
//
