LOCUS       NM_032635                868 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens transmembrane protein 147 (TMEM147), transcript
            variant 1, mRNA.
ACCESSION   NM_032635 NM_006326
VERSION     NM_032635.4
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 868)
  AUTHORS   Ghorashi,T., Darvish,H., Bakhtiari,S., Tafakhori,A., Kruer,M.C. and
            Mozdarani,H.
  TITLE     A biallelic loss-of-function variant in TMEM147 causes profound
            intellectual disability and spasticity
  JOURNAL   Neurogenetics 24 (4), 311-316 (2023)
   PUBMED   37668766
  REMARK    GeneRIF: A biallelic loss-of-function variant in TMEM147 causes
            profound intellectual disability and spasticity.
REFERENCE   2  (bases 1 to 868)
  AUTHORS   Cheng,S., Li,J., Xu,M., Bao,Q., Wu,J., Sun,P. and Han,B.
  TITLE     TMEM147 Correlates with Immune Infiltration and Serve as a
            Potential Prognostic Biomarker in Hepatocellular Carcinoma
  JOURNAL   Anal Cell Pathol (Amst) 2023, 4413049 (2023)
   PUBMED   37305689
  REMARK    GeneRIF: TMEM147 Correlates with Immune Infiltration and Serve as a
            Potential Prognostic Biomarker in Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 868)
  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   4  (bases 1 to 868)
  AUTHORS   Thomas,Q., Motta,M., Gautier,T., Zaki,M.S., Ciolfi,A., Paccaud,J.,
            Girodon,F., Boespflug-Tanguy,O., Besnard,T., Kerkhof,J.,
            McConkey,H., Masson,A., Denomme-Pichon,A.S., Cogne,B., Trochu,E.,
            Vignard,V., El It,F., Rodan,L.H., Alkhateeb,M.A., Jamra,R.A.,
            Duplomb,L., Tisserant,E., Duffourd,Y., Bruel,A.L., Jackson,A.,
            Banka,S., McEntagart,M., Saggar,A., Gleeson,J.G., Sievert,D.,
            Bae,H., Lee,B.H., Kwon,K., Seo,G.H., Lee,H., Saeed,A., Anjum,N.,
            Cheema,H., Alawbathani,S., Khan,I., Pinto-Basto,J., Teoh,J.,
            Wong,J., Sahari,U.B.M., Houlden,H., Zhelcheska,K., Pannetier,M.,
            Awad,M.A., Lesieur-Sebellin,M., Barcia,G., Amiel,J., Delanne,J.,
            Philippe,C., Faivre,L., Odent,S., Bertoli-Avella,A., Thauvin,C.,
            Sadikovic,B., Reversade,B., Maroofian,R., Govin,J., Tartaglia,M.
            and Vitobello,A.
  TITLE     Bi-allelic loss-of-function variants in TMEM147 cause moderate to
            profound intellectual disability with facial dysmorphism and
            pseudo-Pelger-Huet anomaly
  JOURNAL   Am J Hum Genet 109 (10), 1909-1922 (2022)
   PUBMED   36044892
  REMARK    GeneRIF: Bi-allelic loss-of-function variants in TMEM147 cause
            moderate to profound intellectual disability with facial
            dysmorphism and pseudo-Pelger-Huet anomaly.
REFERENCE   5  (bases 1 to 868)
  AUTHORS   Maimaris,G., Christodoulou,A., Santama,N. and Lederer,C.W.
  TITLE     Regulation of ER Composition and Extent, and Putative Action in
            Protein Networks by ER/NE Protein TMEM147
  JOURNAL   Int J Mol Sci 22 (19), 10231 (2021)
   PUBMED   34638576
  REMARK    GeneRIF: Regulation of ER Composition and Extent, and Putative
            Action in Protein Networks by ER/NE Protein TMEM147.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 868)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   7  (bases 1 to 868)
  AUTHORS   Rosemond,E., Rossi,M., McMillin,S.M., Scarselli,M., Donaldson,J.G.
            and Wess,J.
  TITLE     Regulation of M muscarinic receptor expression and function by
            transmembrane protein 147
  JOURNAL   Mol Pharmacol 79 (2), 251-261 (2011)
   PUBMED   21056967
REFERENCE   8  (bases 1 to 868)
  AUTHORS   Dettmer,U., Kuhn,P.H., Abou-Ajram,C., Lichtenthaler,S.F.,
            Kruger,M., Kremmer,E., Haass,C. and Haffner,C.
  TITLE     Transmembrane protein 147 (TMEM147) is a novel component of the
            Nicalin-NOMO protein complex
  JOURNAL   J Biol Chem 285 (34), 26174-26181 (2010)
   PUBMED   20538592
  REMARK    GeneRIF: TMEM147 is a novel core component of the Nicalin-NOMO
            complex, further emphasizing its similarity with gamma-secretase.
REFERENCE   9  (bases 1 to 868)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   10 (bases 1 to 868)
  AUTHORS   Lehner,B., Semple,J.I., Brown,S.E., Counsell,D., Campbell,R.D. and
            Sanderson,C.M.
  TITLE     Analysis of a high-throughput yeast two-hybrid system and its use
            to predict the function of intracellular proteins encoded within
            the human MHC class III region
  JOURNAL   Genomics 83 (1), 153-167 (2004)
   PUBMED   14667819
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM423809.1, BC001118.2 and AW130399.1.
            
            On Nov 23, 2018 this sequence version replaced NM_032635.3.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: SRR5189658.62246.1,
                                           SRR1163655.97135.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000222284.10/ ENSP00000222284.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                BM423809.1         27-43
            18-829              BC001118.2         1-812
            830-868             AW130399.1         16-54               c
FEATURES             Location/Qualifiers
     source          1..868
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..868
                     /gene="TMEM147"
                     /gene_synonym="NEDFLPH; NIFIE14"
                     /note="transmembrane protein 147"
                     /db_xref="GeneID:10430"
                     /db_xref="HGNC:HGNC:30414"
                     /db_xref="MIM:613585"
     exon            1..191
                     /gene="TMEM147"
                     /gene_synonym="NEDFLPH; NIFIE14"
                     /inference="alignment:Splign:2.1.0"
     CDS             115..789
                     /gene="TMEM147"
                     /gene_synonym="NEDFLPH; NIFIE14"
                     /note="isoform 1 is encoded by transcript variant 1; seven
                     transmembrane domain protein; protein NIFIE 14; BOS
                     complex subunit TMEM147"
                     /codon_start=1
                     /product="BOS complex subunit TMEM147 isoform 1"
                     /protein_id="NP_116024.1"
                     /db_xref="CCDS:CCDS12466.1"
                     /db_xref="GeneID:10430"
                     /db_xref="HGNC:HGNC:30414"
                     /db_xref="MIM:613585"
                     /translation="MTLFHFGNCFALAYFPYFITYKCSGLSEYNAFWKCVQAGVTYLF
                     VQLCKMLFLATFFPTWEGGIYDFIGEFMKASVDVADLIGLNLVMSRNAGKGEYKIMVA
                     ALGWATAELIMSRCIPLWVGARGIEFDWKYIQMSIDSNISLVHYIVASAQVWMITRYD
                     LYHTFRPAVLLLMFLSVYKAFVMETFVHLCSLGSWAALLARAVVTGLLALSTLALYVA
                     VVNVHS"
     exon            192..261
                     /gene="TMEM147"
                     /gene_synonym="NEDFLPH; NIFIE14"
                     /inference="alignment:Splign:2.1.0"
     exon            262..321
                     /gene="TMEM147"
                     /gene_synonym="NEDFLPH; NIFIE14"
                     /inference="alignment:Splign:2.1.0"
     exon            322..458
                     /gene="TMEM147"
                     /gene_synonym="NEDFLPH; NIFIE14"
                     /inference="alignment:Splign:2.1.0"
     exon            459..543
                     /gene="TMEM147"
                     /gene_synonym="NEDFLPH; NIFIE14"
                     /inference="alignment:Splign:2.1.0"
     exon            544..665
                     /gene="TMEM147"
                     /gene_synonym="NEDFLPH; NIFIE14"
                     /inference="alignment:Splign:2.1.0"
     exon            666..868
                     /gene="TMEM147"
                     /gene_synonym="NEDFLPH; NIFIE14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      847..852
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM147"
                     /gene_synonym="NEDFLPH; NIFIE14"
                     /note="hexamer: AGTAAA"
     polyA_site      868
                     /gene="TMEM147"
                     /gene_synonym="NEDFLPH; NIFIE14"
                     /note="major polyA site"
ORIGIN      
        1 agtcaggtgg gtgccaggcc ctggccgtgg cgaaagagcc ggcggagccg gagacccgct
       61 cccggagacg ccgcctcgcg atccccgcgc gggcgggacc gggcggccgg catcatgacc
      121 ctgtttcact tcgggaactg cttcgctctt gcctacttcc cctacttcat cacctacaag
      181 tgcagcggcc tgtccgagta caacgccttc tggaaatgcg tccaggctgg agtcacctac
      241 ctctttgtcc aactctgcaa gatgctgttc ttggccactt tctttcccac ctgggaaggc
      301 ggcatctatg acttcattgg ggagttcatg aaggccagcg tggatgtggc agacctgata
      361 ggtctaaacc ttgtcatgtc ccggaatgcc ggcaagggag agtacaagat catggttgct
      421 gccctgggct gggccactgc tgagcttatt atgtcccgct gcattcccct atgggtcgga
      481 gcccggggca ttgagtttga ctggaagtac atccagatga gcatagactc caacatcagt
      541 ctggtccatt acatcgtcgc gtctgctcag gtctggatga taacacgcta tgatctgtac
      601 cacaccttcc ggccagctgt cctcctgctg atgttcctca gtgtctacaa ggcctttgtt
      661 atggagacct tcgtccacct ctgctcgctg ggcagttggg cagctctact ggcccgagca
      721 gtggtaacgg ggctgctggc cctcagcact ttggccctgt atgtcgccgt tgtcaatgtg
      781 cactcctagg cttggtgtct cagacattga tgtacctttt ccctgcctca ctccaggttt
      841 tagtgaagta aacagtattt ggaaagtt
//
