LOCUS       NM_025268               1548 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens transmembrane protein 121 (TMEM121), transcript
            variant 2, mRNA.
ACCESSION   NM_025268 XM_001132455
VERSION     NM_025268.4
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 1548)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 1548)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1548)
  AUTHORS   Xu,W., Wang,Y., Zhou,J., Zhu,X., Zhang,S., Yuan,W., Liu,X., Shi,Y.,
            Cao,L., Zeng,Q., Jiang,Z., Ye,X., Wan,Y., Peng,X., Deng,Y.,
            Chen,F., Wang,X., Dai,G., Luo,S., Fan,X., Mo,X., Wu,X. and Li,Y.
  TITLE     Cardiac Specific Overexpression of hHole Attenuates
            Isoproterenol-Induced Hypertrophic Remodeling through Inhibition of
            Extracellular Signal-Regulated Kinases (ERKs) Signalling
  JOURNAL   Curr Mol Med 16 (5), 515-523 (2016)
   PUBMED   27211802
  REMARK    GeneRIF: HHole as a novel repressor of cardiac hypertrophy.
REFERENCE   4  (bases 1 to 1548)
  AUTHORS   Zhang,Y., Xu,L., Qiu,J., Li,Z., Li,L., Ren,G., Dong,A., Li,B.,
            Ge,M., Meng,S. and Wang,J.
  TITLE     Association between SNP rs10569304 on the second expressed region
            of hole gene and the congenital heart disease
  JOURNAL   J Huazhong Univ Sci Technolog Med Sci 30 (4), 430-436 (2010)
   PUBMED   20714865
  REMARK    GeneRIF: There is an insertion-deletion (GCC/-) of SNP rs10569304
            in the Southern Chinese people. People with the BB genotype are at
            greater risk of congenital heart disease.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 1548)
  AUTHORS   Zhou,J., Li,Y., Liang,P., Yuan,W., Ye,X., Zhu,C., Cheng,Y.,
            Wang,Y., Li,G., Wu,X. and Liu,M.
  TITLE     A novel six-transmembrane protein hhole functions as a suppressor
            in MAPK signaling pathways
  JOURNAL   Biochem Biophys Res Commun 333 (2), 344-352 (2005)
   PUBMED   15950185
REFERENCE   6  (bases 1 to 1548)
  AUTHORS   Nesset,A.L. and Bader,D.M.
  TITLE     Hole is a novel gene product expressed in the developing heart and
            brain
  JOURNAL   Mech Dev 117 (1-2), 347-350 (2002)
   PUBMED   12204283
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL928654.1, HY134492.1 and BC004221.2.
            
            On Nov 23, 2018 this sequence version replaced NM_025268.3.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC004221.2, BI114248.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392519.7/ ENSP00000376304.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                AL928654.1         205001-205020
            21-33               HY134492.1         2-14
            34-1548             BC004221.2         1-1515
FEATURES             Location/Qualifiers
     source          1..1548
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.33"
     gene            1..1548
                     /gene="TMEM121"
                     /gene_synonym="hhole; hole; TMEM121A"
                     /note="transmembrane protein 121"
                     /db_xref="GeneID:80757"
                     /db_xref="HGNC:HGNC:20511"
     exon            1..71
                     /gene="TMEM121"
                     /gene_synonym="hhole; hole; TMEM121A"
                     /inference="alignment:Splign:2.1.0"
     exon            72..1548
                     /gene="TMEM121"
                     /gene_synonym="hhole; hole; TMEM121A"
                     /inference="alignment:Splign:2.1.0"
     CDS             185..1144
                     /gene="TMEM121"
                     /gene_synonym="hhole; hole; TMEM121A"
                     /note="transmembrane protein 121A"
                     /codon_start=1
                     /product="transmembrane protein 121"
                     /protein_id="NP_079544.1"
                     /db_xref="CCDS:CCDS10006.1"
                     /db_xref="GeneID:80757"
                     /db_xref="HGNC:HGNC:20511"
                     /translation="MVLPPPDRRHVCLTTLVIMGSMAVMDAYLVEQNQGPRKIGVCII
                     VLVGDVCFLLVLRYVAVWVGAEVRTAKRGYAMILWFLYIFVLEIKLYFIFQNYKAARR
                     GAADPVARKALTLLLSVCVPGLFLLLVALDRMEYVRTFRKREDLRGRLFWVALDLLDL
                     LDMQASLWEPPRSGLPLWAEGLTFFYCYMLLLVLPCVALSEVSMQGEHIAPQKMMLYP
                     VLSLATVNVVAVLARAANMALFRDSRVSAIFVGKNVVALATKACTFLEYRRQVRDFPP
                     PALSLELQPPPPQRNSVPPPPPPLHGPPGRPHMSSPTRDPLDT"
     polyA_site      1548
                     /gene="TMEM121"
                     /gene_synonym="hhole; hole; TMEM121A"
                     /note="major polyA site"
ORIGIN      
        1 gcggccccgg cagtggcggc agaggctggg cgggcgggcc cgggagcggc gcagcatctg
       61 cgggcggcgg ggtttcgagc tcgccgggcc gtgtcgcgcc atgcccgctg gctgagcgcc
      121 gcagggcctc gtcccgccag gcgtgggggc cgcgcgcgcc caggccgggg cccggcggcc
      181 gaccatggtg ctgccgcccc cggaccggcg ccacgtgtgc ctgaccacgc tggtgatcat
      241 gggcagcatg gccgtcatgg acgcgtacct ggtggagcag aaccagggcc cgcgcaagat
      301 cggcgtgtgc atcatcgtgc tggtgggcga cgtgtgcttc ctgctggtgc tgcgctacgt
      361 ggccgtgtgg gtgggcgccg aggtgcgcac ggccaagcgc ggctacgcca tgatcctgtg
      421 gttcctttac atcttcgtgc tggagatcaa gctctacttc atcttccaga actacaaggc
      481 ggcgcggcgc ggcgcggcgg accccgtggc gcgcaaggcg ctgacgctgc tgctgtctgt
      541 gtgtgtgccc ggcctgttcc tgctgctcgt ggcgctggac cgcatggagt acgtgcgcac
      601 cttccgcaag cgcgaggacc tgcgcggccg cctgttttgg gtggcgctgg acctgctgga
      661 cctgctggac atgcaggcca gcctgtggga gccgccgcgc tccgggctgc cgctgtgggc
      721 cgagggcctc accttcttct actgctacat gctgctgctg gtgctgccgt gcgtggcgct
      781 cagcgaggtc agcatgcagg gcgagcacat agcgccgcag aagatgatgc tgtacccggt
      841 gctcagcctc gccaccgtca atgtggtggc cgtgctggcg cgcgccgcca acatggcgct
      901 gttccgggac agccgtgtct cggccatctt cgtcggcaaa aacgtggtgg cgctcgccac
      961 caaggcctgc accttcctgg agtaccgccg ccaggtgcgc gacttcccgc cgcctgcgct
     1021 atcactggag ctgcagccgc cacccccgca gcgcaactcg gtgccgccgc cgccgccgcc
     1081 gctgcacggc ccgcctgggc gcccccacat gtcctcgccc acgcgtgacc ccctggacac
     1141 gtgacagggc ccgcgcggcc cccgacacgc ccctggggcg cagagacacc gggttggctt
     1201 ggggcgcgcg gtttgcatgg gatggggtgg gggcgggctc ccctagggac aggtgcctcg
     1261 agtgcccgtg cctggggtcc cgcggccgct tcttcatctc aggaatctct cggaccgcgg
     1321 atcctcagcc cccgctccac cagcccgccc cagcgcgtgg gtctgtttgg gaggcctggg
     1381 ccggagcaga gcagaggtga tccggcccct gcctgctggg ccgcccgggt tggaagggag
     1441 ggcagtgtgg gcggagatct gctccttcgg tgggggcctc tggctcagat ttggggccaa
     1501 ggaggcctct gtcattttaa agactcgtgt ttacagtttt gtatccaa
//
