LOCUS       NM_182504                851 bp    mRNA    linear   PRI 09-FEB-2024
DEFINITION  Homo sapiens transmembrane protein 270 (TMEM270), mRNA.
ACCESSION   NM_182504
VERSION     NM_182504.4
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 851)
  AUTHORS   Osborne,L.R., Martindale,D., Scherer,S.W., Shi,X.M., Huizenga,J.,
            Heng,H.H., Costa,T., Pober,B., Lew,L., Brinkman,J., Rommens,J.,
            Koop,B. and Tsui,L.C.
  TITLE     Identification of genes from a 500-kb region at 7q11.23 that is
            commonly deleted in Williams syndrome patients
  JOURNAL   Genomics 36 (2), 328-336 (1996)
   PUBMED   8812460
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY372053.1 and AC093168.3.
            
            On Nov 22, 2018 this sequence version replaced NM_182504.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY372053.1, SRR5189667.251548.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320531.3/ ENSP00000316775.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AY372053.1         6-17
            13-13               AC093168.3         96228-96228
            14-76               AY372053.1         19-81
            77-77               AC093168.3         96292-96292
            78-267              AY372053.1         83-272
            268-268             AC093168.3         100209-100209
            269-650             AY372053.1         274-655
            651-651             AC093168.3         100747-100747
            652-851             AY372053.1         657-856
FEATURES             Location/Qualifiers
     source          1..851
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..851
                     /gene="TMEM270"
                     /gene_synonym="WBSCR28"
                     /note="transmembrane protein 270"
                     /db_xref="GeneID:135886"
                     /db_xref="HGNC:HGNC:23018"
                     /db_xref="MIM:612547"
     exon            1..108
                     /gene="TMEM270"
                     /gene_synonym="WBSCR28"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..834
                     /gene="TMEM270"
                     /gene_synonym="WBSCR28"
                     /note="Williams-Beuren syndrome critical region 28;
                     williams-Beuren syndrome chromosomal region 28 protein;
                     Williams-Beuren syndrome chromosome region 28"
                     /codon_start=1
                     /product="transmembrane protein 270"
                     /protein_id="NP_872310.2"
                     /db_xref="CCDS:CCDS43597.1"
                     /db_xref="GeneID:135886"
                     /db_xref="HGNC:HGNC:23018"
                     /db_xref="MIM:612547"
                     /translation="MEALPPVRSSLLGILLQVTRLSVLLVQNRDHLYNFLLLKINLFN
                     HWVSGLAQEARGSCNWQAHLPLGAAACPLGQALWAGLALIQVPVWLVLQGPRLMWAGM
                     WGSTKGLGLALLSAWEQLGLSVAIWTDLFLSCLHGLMLVALLLVVVTWRVCQKSHCFR
                     LGRQLSKALQVNCVVRKLLVQLRRLYWWVETMTALTSWHLAYLITWTTCLASHLLQAA
                     FEHTTQLAEAQEVEPQEVSGSSLLPSLSASSDSESGTVLPEQETPRE"
     exon            109..537
                     /gene="TMEM270"
                     /gene_synonym="WBSCR28"
                     /inference="alignment:Splign:2.1.0"
     exon            538..851
                     /gene="TMEM270"
                     /gene_synonym="WBSCR28"
                     /inference="alignment:Splign:2.1.0"
     regulatory      830..835
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM270"
                     /gene_synonym="WBSCR28"
                     /note="hexamer: AATAAA"
     polyA_site      851
                     /gene="TMEM270"
                     /gene_synonym="WBSCR28"
                     /note="major polyA site"
ORIGIN      
        1 gcttctccca gctggagtag gtgggggagg ccagacatgg aggcccttcc tccagtcaga
       61 tccagccttt tggggatcct gttgcaggtt acgaggctct cagtgctgtt ggttcagaac
      121 cgagatcacc tctataattt cctgctcctc aagatcaacc tcttcaacca ctgggtgtca
      181 gggctggccc aggaggcccg ggggtcctgt aactggcagg cccacctacc cctgggagct
      241 gcagcctgcc ccctgggcca ggctctctgg gctgggctgg ctctgataca ggtccccgta
      301 tggctggtgc tacagggacc caggctgatg tgggctggca tgtggggcag caccaagggc
      361 ctgggcctgg ccttgctcag tgcctgggag cagctgggcc tgtctgtggc catctggaca
      421 gatctgtttt tgtcatgtct gcacggcctg atgttggtgg ccttgctctt ggtggtagtg
      481 acctggaggg tgtgtcagaa gtcccactgc ttccgactgg gcaggcagct cagtaaggcc
      541 ttgcaagtga actgcgtggt aaggaagctc ctggtacagc tgagacgtct gtattggtgg
      601 gtggagacta tgactgccct cacctcctgg cacctggcct atctcatcac ctggaccacc
      661 tgcctggcct cccacctgct gcaggctgcc tttgagcaca cgacccagct ggccgaggcc
      721 caggaggttg aaccccagga ggtctcaggg tcttccttgc tgccctcact gtctgcgtcc
      781 tcggactcag agtctggaac agttttgcca gagcaagaaa ctcccagaga ataaatgtat
      841 ccccatctgc c
//
