LOCUS       NM_001008703             818 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens small integral membrane protein 29 (SMIM29),
            transcript variant 2, mRNA.
ACCESSION   NM_001008703
VERSION     NM_001008703.4
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 818)
  AUTHORS   Deng,X., Sabino,E.C., Cunha-Neto,E., Ribeiro,A.L., Ianni,B.,
            Mady,C., Busch,M.P. and Seielstad,M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 818)
  AUTHORS   N'Diaye,A., Chen,G.K., Palmer,C.D., Ge,B., Tayo,B., Mathias,R.A.,
            Ding,J., Nalls,M.A., Adeyemo,A., Adoue,V., Ambrosone,C.B.,
            Atwood,L., Bandera,E.V., Becker,L.C., Berndt,S.I., Bernstein,L.,
            Blot,W.J., Boerwinkle,E., Britton,A., Casey,G., Chanock,S.J.,
            Demerath,E., Deming,S.L., Diver,W.R., Fox,C., Harris,T.B.,
            Hernandez,D.G., Hu,J.J., Ingles,S.A., John,E.M., Johnson,C.,
            Keating,B., Kittles,R.A., Kolonel,L.N., Kritchevsky,S.B., Le
            Marchand,L., Lohman,K., Liu,J., Millikan,R.C., Murphy,A.,
            Musani,S., Neslund-Dudas,C., North,K.E., Nyante,S., Ogunniyi,A.,
            Ostrander,E.A., Papanicolaou,G., Patel,S., Pettaway,C.A.,
            Press,M.F., Redline,S., Rodriguez-Gil,J.L., Rotimi,C.,
            Rybicki,B.A., Salako,B., Schreiner,P.J., Signorello,L.B.,
            Singleton,A.B., Stanford,J.L., Stram,A.H., Stram,D.O., Strom,S.S.,
            Suktitipat,B., Thun,M.J., Witte,J.S., Yanek,L.R., Ziegler,R.G.,
            Zheng,W., Zhu,X., Zmuda,J.M., Zonderman,A.B., Evans,M.K., Liu,Y.,
            Becker,D.M., Cooper,R.S., Pastinen,T., Henderson,B.E.,
            Hirschhorn,J.N., Lettre,G. and Haiman,C.A.
  TITLE     Identification, replication, and fine-mapping of Loci associated
            with adult height in individuals of african ancestry
  JOURNAL   PLoS Genet 7 (10), e1002298 (2011)
   PUBMED   21998595
  REMARK    Erratum:[PLoS Genet. 2011 Nov;7(11).
            doi:10.1371/annotation/58c67154-3f10-4155-9085-dcd6e3689008]
REFERENCE   3  (bases 1 to 818)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   4  (bases 1 to 818)
  AUTHORS   Kim,J.J., Lee,H.I., Park,T., Kim,K., Lee,J.E., Cho,N.H., Shin,C.,
            Cho,Y.S., Lee,J.Y., Han,B.G., Yoo,H.W. and Lee,J.K.
  TITLE     Identification of 15 loci influencing height in a Korean population
  JOURNAL   J Hum Genet 55 (1), 27-31 (2010)
   PUBMED   19893584
REFERENCE   5  (bases 1 to 818)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 818)
  AUTHORS   Brass,A.L., Dykxhoorn,D.M., Benita,Y., Yan,N., Engelman,A.,
            Xavier,R.J., Lieberman,J. and Elledge,S.J.
  TITLE     Identification of host proteins required for HIV infection through
            a functional genomic screen
  JOURNAL   Science 319 (5865), 921-926 (2008)
   PUBMED   18187620
REFERENCE   7  (bases 1 to 818)
  AUTHORS   Kazmierczak,B., Borrmann,L. and Bullerdiek,J.
  TITLE     Assignment of a new gene (LBH)
  JOURNAL   Genomics 56 (1), 136-137 (1999)
   PUBMED   10036196
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK290164.1 and BU956518.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001008703.3.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.469308.1, AK290164.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000476320.6/ ENSP00000417604.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-667               AK290164.1         37-703
            668-818             BU956518.1         509-659
FEATURES             Location/Qualifiers
     source          1..818
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     gene            1..818
                     /gene="SMIM29"
                     /gene_synonym="C6orf1; LBH"
                     /note="small integral membrane protein 29"
                     /db_xref="GeneID:221491"
                     /db_xref="HGNC:HGNC:1340"
                     /db_xref="MIM:611419"
     exon            1..28
                     /gene="SMIM29"
                     /gene_synonym="C6orf1; LBH"
                     /inference="alignment:Splign:2.1.0"
     exon            29..212
                     /gene="SMIM29"
                     /gene_synonym="C6orf1; LBH"
                     /inference="alignment:Splign:2.1.0"
     CDS             102..410
                     /gene="SMIM29"
                     /gene_synonym="C6orf1; LBH"
                     /note="isoform 1 is encoded by transcript variant 2;
                     uncharacterized protein C6orf1"
                     /codon_start=1
                     /product="small integral membrane protein 29 isoform 1"
                     /protein_id="NP_001008703.2"
                     /db_xref="CCDS:CCDS4790.2"
                     /db_xref="GeneID:221491"
                     /db_xref="HGNC:HGNC:1340"
                     /db_xref="MIM:611419"
                     /translation="MSNTTVPNAPQANSDSMVGYVLGPFFLITLVGVVVAVVMYVQKK
                     KRVDRLRHHLLPMYSYDPAEELHEAEQELLSDMGDPKVVHGWQSGYQHKRMPLLDVKT
                     "
     exon            213..238
                     /gene="SMIM29"
                     /gene_synonym="C6orf1; LBH"
                     /inference="alignment:Splign:2.1.0"
     exon            239..344
                     /gene="SMIM29"
                     /gene_synonym="C6orf1; LBH"
                     /inference="alignment:Splign:2.1.0"
     exon            345..818
                     /gene="SMIM29"
                     /gene_synonym="C6orf1; LBH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      799..804
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMIM29"
                     /gene_synonym="C6orf1; LBH"
                     /note="hexamer: AATAAA"
     polyA_site      818
                     /gene="SMIM29"
                     /gene_synonym="C6orf1; LBH"
                     /note="major polyA site"
ORIGIN      
        1 gttcctgtcg gggctgcagc ggcgggaggg agcccagtgg aggcgccctc ccgaagcgcc
       61 actgcccatg ctgaccaccc agccctccgg ctgctgatgt catgagtaac accactgtgc
      121 ccaatgcccc ccaggccaac agcgactcca tggtgggcta tgtgttgggg cccttcttcc
      181 tcatcaccct ggtcggggtg gtggtggctg tggtaatgta tgtacagaag aaaaagcggg
      241 tggaccggct gcgccatcac ctgctcccca tgtacagcta tgacccagct gaggaactgc
      301 atgaggctga gcaggagctg ctctctgaca tgggagaccc caaggtggta catggctggc
      361 agagtggcta ccagcacaag cggatgccac tgctggatgt caagacgtga cctgaccccc
      421 ttgccccacc cttcagagcc tggggtcctg gactgcctgg ggccctgcca tctgcttccc
      481 ctgctgtcac ctggctcccc ctgctgggtg ctgggtctcc atttctccct ccacccaccc
      541 tcagcagcat ctgcttccca tgccctcacc atcacctcac tgcccccagg ccttctgccc
      601 tttgtgggtg ttgagctcac cgcccaccca caggcactca tgggaagagg ctttccttct
      661 gggatggggg cggctggtag acacctttgc tttctctagc cctcctgggc tgggcttggg
      721 cacaaatccc caggcaggct ttggagttgt ttccatggtg atggggccag atgtatagta
      781 ttcagtatat attttgtaaa taaaatgttt tgtggcta
//
